Genomic deoxyribonucleic acid  (abbreviated as  gDNA [ 1 ] ) is chromosomal  DNA , in contrast to extra-chromosomal DNAs like  plasmids . Most organisms have the same genomic DNA in every cell; however, only certain genes are  active  in each cell to allow for cell function and  differentiation  within the body. [ 2 ]  gDNA predominantly resides in the cell nucleus packed into dense chromosome structures. Chromatin refers to the combination of DNA and proteins that make up chromosomes. When a cell is not dividing, chromosomes exist as loosely packed chromatin mesh. [ 3 ]


The  genome  of an organism (encoded by the genomic DNA) is the (biological) information of heredity which is passed from one generation of organism to the next.  That genome is  transcribed  to produce various  RNAs , which are necessary for the function of the organism.  Precursor mRNA  (pre-mRNA) is transcribed by  RNA polymerase II  in the  nucleus . pre-mRNA is then processed by  splicing  to remove  introns , leaving the  exons  in the mature messenger RNA ( mRNA ). Additional processing includes the addition of a  5' cap  and a  poly(A) tail  to the pre-mRNA. The mature mRNA may then be transported to the  cytosol  and translated by the  ribosome  into a  protein . Other types of RNA include  ribosomal RNA  (rRNA) and  transfer RNA  (tRNA). These types are transcribed by  RNA polymerase  I and RNA polymerase III, respectively, and are essential for  protein synthesis . However 5s rRNA is the only rRNA which is transcribed by RNA Polymerase III. [ 4 ]


The  genomic signature  refers to the characteristic frequency of  oligonucleotides  in a  genome  or  sequence . [ 1 ]   It has been observed that the genomic signature of  phylogenetically  related genomes is similar. [ 2 ]


48°37′24″N   2°26′22″E  /  48.623412°N 2.439364°E  /  48.623412; 2.439364


The French National Sequencing Center  ( Genoscope ) was created in 1996 in  Évry ,  France . It has been involved in the  sequencing  of the  human genome .


The Genoscope is a part of the  Commissariat à l'énergie atomique et aux énergies alternatives  (CEA); more specifically the  CEA Paris-Saclay  center. The site employs around 130 people. [ 1 ] [ 2 ]


This article about an organization in France is a  stub . You can help Wikipedia by  expanding it .


A  genosome  (also known as a  lipoplex ) is a  lipid  and  DNA  complex that is used to deliver  genes . It can be a form of non-viral  gene therapy  as the complex does not require any components of a  virus  in order to transport genetic material. In presence of  CT-DNA , genosomes can form through  surface electrostatic interaction . [ 1 ]


The  Genetic Investigation of ANthropometric Traits  or  GIANT  consortium is an international collaboration of  human genetics  researchers dedicated to studying the  genetic architecture  of  anthropometric   traits  such as  human height  and  body mass index . The consortium is led by  Joel Hirschhorn . [ 1 ] [ 2 ]


Glycol nucleic acid  ( GNA ), sometimes also referred to as glycerol nucleic acid, is a nucleic acid similar to  DNA  or  RNA  but differing in the composition of its sugar-phosphodiester backbone, using  propylene glycol  in place of ribose or deoxyribose. [ 1 ]  GNA is chemically stable but not known to occur naturally. However, due to its simplicity, it might have played a role in the evolution of life. [ citation needed ]


The 2,3-dihydroxypropyl nucleoside analogues were first prepared by Ueda et al. (1971). Soon thereafter it was shown that phosphate-linked  oligomers  of the analogues do in fact exhibit hypochromicity in the presence of RNA and DNA in solution (Seita et al. 1972). The preparation of the polymers was later described by Cook et al. (1995, 1999) and Acevedo and Andrews (1996). However the ability of GNA-GNA self-pairing was first reported by Zhang and Meggers in 2005. [ 1 ]  Crystal structures of a GNA duplexes were subsequently reported by Essen and Meggers. [ 2 ] [ 3 ]


DNA and RNA have a  deoxyribose  and  ribose  sugar backbone, respectively, whereas GNA's backbone is composed of repeating glycol units linked by  phosphodiester bonds . The glycol unit has just three  carbon  atoms and still shows  Watson–Crick base pairing . The Watson–Crick base pairing is much more stable in GNA than its natural counterparts DNA and RNA as it requires a high temperature to melt a duplex of GNA. It is possibly the simplest of the nucleic acids, making it a hypothetical precursor to RNA. [ citation needed ]


The  GPCR  superfamily is the largest gene family in the human genome containing approximately 800 genes. [ 1 ]  As the vertebrate superfamily can be phylogenetically grouped into five main families the  GRAFS  classification system has been proposed.


GRAFS stands for  Glutamate ,  Rhodopsin ,  Adhesion ,  Frizzled / Taste2 ,  Secretin . [ 2 ]  They correspond to classical classes C ( class C , glutamate), A ( rhodopsin-like ), B2 ( Secretin receptor family , long N-terminal), F ( Frizzled / Smoothened ), and B1+3 (other secretin). [ 3 ]   Taste2  has more recently considered to be closer to  Rhodopsin-like  receptors. [ 4 ]


The  Gruber Prize in Genetics , established in 2001, is one of three international awards worth US$500,000 made by the  Gruber Foundation , a non-profit organization based at  Yale University  in  New Haven ,  Connecticut .


The Genetics Prize honors leading scientists for distinguished contributions in any realm of genetics research. The Foundation’s other international prizes are in Cosmology, Neuroscience, Justice, and Women’s Rights.


Haldane's sieve  is a concept in  population genetics  named after the British geneticist  J. B. S. Haldane . It refers to the fact that dominant advantageous alleles are more likely to fix in the population than recessive alleles. [ 1 ]  Haldane's sieve is particularly relevant in situations where the effects of natural selection are strong and the beneficial mutations have a significant impact on an organism's fitness.


According to Haldane's sieve, when a new advantageous mutation arises in a population, it initially occurs as a single copy (a  de novo mutation ), borne by an  heterozygous  individual.
This way, genetic dominance is important to estimate the fate of new mutations, that is, if new mutations are going to fix or go extinct.
Dominant alleles are more readily exposed to directional selection since the moment they are rare, and thus they are more likely to fix as a result of a " hard sweep ".
The term "sieve" in Haldane's sieve metaphorically represents this filtering effect of natural selection.


When adaptation stems from the species pool of standing genetic variation, a " soft sweep ", the rationale does not apply, because the allele is no longer rare in the beginning of the sweep. In fact, recessive alleles are more likely to sweep than dominant sweeps when alleles are previously maintained in the population. [ 2 ]


Limited dispersal and population structure can reduce the effects of Haldane's sieve. In subdivided populations, limited dispersal increases inbreeding and homozygosity, allowing recessive alleles to express their beneficial effects more frequently and thus accelerate their fixation. This effect is most pronounced when dispersal is strongly limited (e.g.,

 F
 S
 T
 >
 0.2

 {\displaystyle FST>0.2}

 ).  [ 3 ]   [ 4 ]


Haldane's sieve has important implications for understanding the dynamics of adaptation and evolution in  diploid  populations. It highlights the role of natural selection in driving genetic changes in the presence of genetic dominance.


Haplogroup A-P305  also known as  A1  is a  human Y-chromosome DNA haplogroup . Like its parent haplogroup  haplogroup A0-T  (A-L1085), A1 includes the vast majority of living human males. It emerged in  Africa  approximately 161,300 years ago.  [ 1 ]  By comparison, members of its sole sibling  subclade ,  haplogroup A0  – the only other primary subclade of haplogroup A0-T – are found mostly in Africa.


Basal, undivergent A-P305* is largely restricted to populations native to  Africa , though a handful of cases have been reported in  Europe  and  Western Asia . A-P305* is found at its highest rates in  Bakola Pygmies  (South  Cameroon ) at 8.3% and  Berbers  from  Tunisia  at 1.5% [ 2 ]  and in  Ghana . [ 3 ]  The clade also achieves high frequencies in the  Bushmen   hunter-gatherer  populations of  Southern Africa , followed closely by many  Nilotic  groups in  Eastern Africa . However, haplogroup A's oldest sub-clades are exclusively found in  Central - Northwest Africa , where it, and consequently Y-chromosomal Adam, is believed to have originated about 140,000 years ago. [ 2 ]  The clade has also been observed at notable frequencies in certain populations in  Ethiopia , as well as some  Pygmy  groups in Central Africa.


Haplogroup C-B477 , also known as  Haplogroup C1b2 , is a  Y-chromosome   haplogroup . It is one of two primary branches of  Haplogroup C1b , one of the descendants of  Haplogroup C1 .


It is distributed in high frequency in  Indigenous Australians ,  Papuan people ,  Melanesian people , and  Polynesian people .


Haplogroup C-B477 took a  southern route  after the  Out of Africa  through the  Indian subcontinent  to the  Sahul Shelf . [ 8 ]  C-M38 was born 49,600 years before present around  New Guinea . [ 9 ]


Haplogroup C-V20  (also known as  Haplogroup C1a2 ) is a  Y-chromosome   haplogroup . It is one of two primary branches of  Haplogroup C1a , one of the descendants of  Haplogroup C1  (The other is  C1a1  in  Japan  with an average amount of 5% [ 1 ] ). Haplogroup C-V20 is now distributed in  Europe ,  North Africa ,  West Asia , and  South Asia  with very low frequency.


Haplogroup C1a2 (V20) has been discovered in the remains of  Palaeolithic  people in  Czech Republic  (30,000 years ago),  Belgium  (35,000 years ago), [ 3 ]  and the  Sunghir  archaeological site near  Vladimir ,  Russia . [ 4 ]  Regarding more recent prehistory, Haplogroup C-V20 has been found in the remains of a male (died  ca.  7,000 years ago) associated with a late group of the  Alföld Linear Pottery culture  at Kompolt-Kigyósér, Hungary whose mtDNA belonged to  haplogroup J1c1 , the remains of a male (died  ca.  7,000 years ago) associated with the  LBK Culture  at Apc-Berekalja (I.), Hungary whose mtDNA belonged to  haplogroup K1a3a3 , and the remains of a male (died  ca.  7,000 years ago) associated with  Mesolithic  culture at  La Braña-Arintero ,  León ,  Spain  whose mtDNA belonged to  haplogroup U5b2c1 . [ 5 ]  It has also been found [ 6 ]  in ancient DNA from  Anatolia , specifically in the remains of an  Anatolian hunter-gatherers  dating from 13.642-13.073 BCE and belonging to mitochondrial haplogroup K2b.


Haplogroup C-V20 Y-DNA also has been found in a very small number of modern  Europeans , [ 7 ]   Algerians , [ 8 ]   Armenians , [ 9 ]   Turks  and  Nepalis . [ 10 ]  It includes many Y-DNA samples associated with the oldest currently known population of anatomically modern humans in Europe ( Cro-Magnons ), and it is considered to be a carrier of the Upper Paleolithic  Aurignacian  culture that began 40,000 years ago. [ 11 ]


In  human mitochondrial genetics , the  Haplogroup CZ  is a  human mitochondrial DNA (mtDNA) haplogroup .


Haplogroup CZ is a descendant of  haplogroup M8  and is a parent to the haplogroups  C  and  Z . The C and Z subclades share a common ancestor dated to approximately 36,500 years ago. [ 2 ] [ 3 ]


Today, CZ is found in  eastern Asian ,  Central Asian ,  Siberian ,  indigenous American , and  European  populations, and is most common in  Siberian  populations. It is  recognized by a  genetic marker  at 249d.


This phylogenetic tree of haplogroup CZ subclades is based on the paper by Mannis van Oven and Manfred Kayser  Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation [ 1 ]  and subsequent published research.


Haplogroup D-Z27276  also known as  Haplogroup D1a1  is a  Y-chromosome   haplogroup . It is one of two  branches of  Haplogroup D1 , one of the descendants of  Haplogroup D . The other is  D-M55  which is only found in  Japan .


This group is found in about 46.6%  Tibetan people . [ 2 ]  It branched off  D-M55  35,000-40,000 years before present or already 53,000 years before present. [ 1 ] [ 3 ]


One sample of a subgroup of D-Z27276 was also found among ancient samples of the  Koban culture  between  Russia  and  Georgia . [ 4 ]


By ISOGG tree（Version: 14.151）. [ 5 ]


Haplogroup JT  is a  human mitochondrial DNA  (mtDNA) haplogroup.


Haplogroup JT is descended from the macro-haplogroup  R . It is the ancestral clade to the mitochondrial haplogroups  J  and  T .


JT (predominantly  J ) was found among the ancient  Etruscans . [ 2 ]  The root level haplogroup JT* has been assigned to an ancient person found at the Colfiorito necropolis in  Umbria  in central Italy. [ 3 ]


The haplogroup has also been found among  Iberomaurusian  specimens dating from the  Epipaleolithic  at the  Taforalt  prehistoric site. [ 4 ]  One ancient individual carried a haplotype, which correlates with either the JT clade or the haplogroup  H  subclade H14b1 (1/9; 11%). [ 5 ]


This phylogenetic tree of haplogroup JT subclades is based on the paper by Mannis van Oven and Manfred Kayser  Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation [ 1 ]  and subsequent published research.


Maternally inherited ancient mtDNA variants have clear impact on the presentation of disease in a modern society. Superhaplogroup JT is an example of reduced risk of Parkinson's disease [ 6 ]  And mitochondrial and mtDNa alterations continue to be promising disease biomarkers. [ 7 ] [ 8 ]


Haplogroup L4  is a  human mitochondrial DNA  (mtDNA) haplogroup. It is a small maternal clade primarily restricted to Africa. [ 2 ]


L4 is important in  East Africa . The highest frequencies are in  Tanzania  among the  Hadza  at 60-83% and  Sandawe  at 48%. [ 3 ]


It has two branches, L4a and L4b. Subgroup L4a was formerly called L7 and considered a separate subclade of  L3'4'7 . It has  been recognized as a subclade of L4, with  L3  as its outgroup by Behar et al. (2008). [ 4 ]
The parent clade L3'4 is to have emerged at 106–66 kya. [ 5 ]
L4 is not much later than this, estimated at 87 kya by Fernandes et al. (2015). [ 6 ]


The following phylogeny is based on van Oven and Kayser (2008). [ 1 ]


Haplogroup L5  is a  human mitochondrial DNA  (mtDNA) clade. It was previously known as  L1e .


L5 is a small haplogroup centered in  East Africa . The highest frequency is in  Mbuti   Pygmies  from Eastern Central Africa at 15%. [ 3 ]
It is present in relatively small frequencies in Tanzania ( Sandawe  and others), Kenya, Chad, Ethiopia, Sudan, Nubia, Egypt [ 4 ] [ Note 1 ]  and Saudi Arabia. [ 5 ]


Haplogroup L5 has been observed among specimens at the island cemetery in  Kulubnarti ,  Sudan , which date from the Early Christian period (AD 550–800). [ 6 ]


This phylogenetic tree of haplogroup L5 subclades is based on the paper by Mannis van Oven and Manfred Kayser  Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation [ 2 ]  and subsequent published research.


In  human mitochondrial genetics ,   Haplogroup L6  is a  human mitochondrial DNA (mtDNA) haplogroup .  It is a small  haplogroup local to the Ethiopian highlands and Yemen. [ 3 ]


This haplogroup has been found only in  Yemen  and  Ethiopia . [ 4 ]


This  phylogenetic tree  of haplogroup M subclades is based on the paper by Mannis van Oven and Manfred Kayser  Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation [ 2 ]  and subsequent published research.


In  human mitochondrial genetics ,  Haplogroup P  is a  human mitochondrial DNA (mtDNA) haplogroup .


Haplogroup P is a descendant of  Haplogroup R .


Today,  P  is most commonly found in  Oceania , especially in  Papuans ,  Melanesians ,  indigenous Australians , [ 3 ]  It's 1.4% in mainstream Filipinos but 1.13% in  Luzon , 1.78% in  Visayas , 1.43% in  Mindanao . [ 4 ]  It is much higher in Sub-Filipinos groups, 6.67% in  Bugkalot  and 11.2% in  Maranao . [ 5 ]  It was found in the Philippines Negrito  Aeta  of  Bataan  at 40%. [ 6 ]  It is also found in the  Malaysians  at 0.9%, including  Indonesians .


This phylogenetic tree of haplogroup P subclades is based on the paper by Mannis van Oven and Manfred Kayser  Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation [ 2 ]  and subsequent published research.


Haplogroup pre-JT  is a  human mitochondrial DNA haplogroup  (mtDNA). It is also called  R2'JT .


Haplogroup pre-JT is a descendant of the  haplogroup R . It is characterised by the mutation T4216C. The pre-JT clade has two direct descendant lineages,  haplogroup JT  and haplogroup R2. [ citation needed ]


According to YFull MTree, haplogroup R2'JT has allegedly been sequenced in at least three individuals, among whom one came from ancient Egypt [ 1 ]  and one from modern Denmark. [ 2 ]  However, Ian Logan mutationally interpreted the Denmark sample as being a member of T1a. [ 3 ]


One carrier of haplogroup R2'JT was found in an in-depth study of "108 Scandinavian  Neolithic  individuals". [ 4 ]


Its major subclade is  Haplogroup JT , which further divides into  Haplogroup J  and  Haplogroup T . Its other subclade is  Haplogroup R2 , which has such branches as R2a, R2b, and R2c.


In  human genetics ,  Haplogroup S  is a  human mitochondrial DNA (mtDNA) haplogroup  found only among  Indigenous Australians . It is a descendant of macrohaplogroup  N .


Haplogroup S mtDNA evolved within Australia between 64,000 and 40,000 years ago (51 kya). [ 2 ]


It is found in the Indigenous Australian population. Haplogroup S2 found in Willandra Lakes human remain WLH4 dated back Late Holocene (3,000–500 years ago). [ 3 ] [ 4 ]


The following table lists relevant  GenBank  samples:


This phylogenetic tree of haplogroup S subclades is based on the paper by Mannis van Oven and Manfred Kayser  Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation [ 1 ]  and subsequent published research.  The TMRCA for haplogroup S is between 49 and 51 KYA  according to Nano Nagle's  Aboriginal Australian mitochondrial genome variation – an increased understanding of population antiquity and diversity  publication that published in 2017. [ 2 ]


In human genetics,  Haplotype 35 , also called ht35 or the Armenian Modal Haplotype, is a  Y chromosome   haplotype  of  Y-STR   microsatellite  variations, associated with the  Haplogroup R1b . It is characterized by DYS393=12 (as opposed to the  Atlantic Modal Haplotype , another R1b haplotype, which is characterized by DYS393=13). The members of this haplotype are found in high numbers in  Anatolia  and  Armenia , with smaller numbers throughout  Central Asia , the Middle East, the Balkans, the Caucus Mountains, and in Jewish populations. They are also present in Britain in areas that were found to have a high concentration of  Haplogroup J , suggesting they arrived together, perhaps through Roman soldiers. [ 1 ]


HCT116  is a human  colon cancer   cell line  used in therapeutic research and drug screenings. [ 1 ]


HCT116 cells have a mutation in codon 13 of the  KRAS   proto-oncogene , and are suitable  transfection  targets for gene therapy research. [ 2 ]  The cells have an epithelial morphology and can metastasize in  xenograft  models. [ 1 ]  When  transducted  with  viral vectors  carrying the  p53  gene, HCT116 cells remain arrested in the  G1 phase . [ 3 ]  The proliferation of HCT116 colonies was found to be inhibited by 5-Fu/P85 copolymer micelles. [ 4 ]  Furthermore, it was found that the  knockout  of  MARCH2  limited growth of HCT116 cells via stress on the  endoplasmic reticulum . [ 5 ]


HCT116 cells are used in a variety of biomedical studies involving colon cancer proliferation and corresponding inhibitors. The cell line has been used in  tumorigenicity  studies, along with other research that has shown that  Cyclin D1  holds large importance for the activity of lithocholic acid hydroxyamide. HCT116 cells can also function in  xenografts , with  docetaxel ,  5-FU , and  flavopiridol  limiting tumor growth  in vitro .


The HCT116 cell line was found to have two variations; one with a large expression of the Insp8 gene, and the other without. The Insp8 gene is part of a cell's  energy metabolism  process, and can affect the cellular  phenotype  as a result. [ 6 ]


This  oncology  article is a  stub . You can help Wikipedia by  expanding it .


Hexadimethrine bromide  (commercial brand name Polybrene) is a  cationic   polymer   with several uses. In research, it is primarily used to increase the efficiency of  transduction  of certain cells with viruses (such as  retrovirus  or  lentivirus ) in  cell culture . [ 1 ]  Hexadimethrine bromide acts by neutralizing the charge repulsion between  virions  and  sialic acid  on the  cell surface . [ 2 ]  Use of Polybrene can improve transduction efficiency 100-1000 fold [ 3 ]  although it can be toxic to some cell types. Polybrene in combination with DMSO shock is used to transfect some cell types such as NIH-3T3 and CHO. [ 3 ]  It has other uses, including a role in  protein sequencing . [ 4 ]


Hexadimethrine bromide also reverses heparin anticoagulation during  open-heart surgery , and it was the original reversal agents used in the 1950s and 1960s. [ 5 ]  It was replaced by  protamine sulfate  in 1969, after it was shown that hexadimethrine bromide could potentially cause  kidney failure  in dogs when used in doses in excess of its therapeutic range. [ 6 ]  It is still used as an alternative to protamine sulfate for patients who are sensitive to protamine, and at least one surgical center has gone back to using it as their standard reversal agent, since protamine sulfate causes at least a mild hypotensive reaction in most or all patients  [ 5 ]


Hexadimethrine bromide is also used in enzyme kinetic assays in order to reduce spontaneous activation of zymogens that are prone to auto activation. [ citation needed ]


This article about  polymer science  is a  stub . You can help Wikipedia by  expanding it .


High-Mobility Group  or HMG is a group of  chromosomal   proteins  that are involved in the regulation of DNA-dependent processes such as
 transcription ,  replication ,  recombination , and  DNA repair . [ 1 ]


HMG proteins were originally isolated from  mammalian  cells, and named according to their  electrophoretic  mobility in  polyacrylamide  gels. [ 2 ]


The HMG proteins are subdivided into 3 superfamilies each containing a characteristic functional domain:


Proteins containing any of the above  domains  embedded in their sequence are known as HMG-motif proteins.
 HMG-box  proteins are found in a variety of  eukaryotic  organisms.


HMG proteins are thought to play a significant role in various human disorders. Disruptions and rearrangements in the genes coding for some of the HMG proteins are associated with some common benign tumors.  Antibodies  to HMG proteins are found in patients with  autoimmune  diseases. The  SRY  gene on the Y Chromosome, responsible for male sexual differentiation, contains an HMG-Box domain.  A member of the HMG family of proteins,  HMGB1 , has also been shown to have an extracellular activity as a  chemokine , attracting  neutrophils  and mononuclear inflammatory cells to the infected  liver . [ 3 ]  The high-mobility group protein such as HMO1  [ 4 ]  alters DNA architecture by binding, bending and looping. Furthermore, these  HMG-box   DNA-binding proteins  increase the flexibility of the  DNA  upon binding. [ 5 ]


In mammalian  cells , the HMG  non-histone proteins  can modulate the activity of major DNA repair pathways including  base excision repair ,  mismatch repair ,  nucleotide excision repair  and  double-strand break repair . [ 6 ]


HLA-B22  (B22) is an  HLA  -  B   serotype . B22 is a broad antigen serotype that recognizes the  B54 ,  B55 ,  and  B56  split antigen serotypes. [ 1 ]


HLA-Cw4  (Cw4) is a  human leukocyte antigen   serotype  within  HLA-C  serotype group. (For more general information on HLA serotypes, please see the article:  History and naming of human leukocyte antigens .) Cw4 is determined by the antibody recognition of α 4  subset of HLA-Cw α-chains. For the serotype Cw4, the alpha chain are encoded by the HLA-Cw *04  allele group and the β-chain are encoded by  B2M   locus . [ 1 ]   Cw4 and Cw *04  are almost synonymous in meaning. Cw4 is more common in  Southeast Europe , where it is part of the  Cw4-B35  haplotype.


HMGA  is a family of  high mobility group  proteins characterized by an  AT-hook . They code for a "small, nonhistone, chromatin-associated protein that has no intrinsic transcriptional activity but can modulate transcription by altering the chromatin architecture". [ 1 ]  Mammals have two orthologs: HMGA1 and HMGA2.


In mouse embryonic stem cells it has been demonstrated that both HMGA proteins binds uniformly to the DNA due to their  AT-hook  domains, with a slight preference for AT-rich regions/ [ 2 ]  Such regions tend to lack coding genes, an observation that argues against a direct role in transcriptional control and in agreement with previous studies, suggest that these proteins have a structural role in the chromatin, similar to  histone .


Normally, when cells are subjected to increased  DNA damage  (such as the formation of  6-O-methylguanine ) this causes an increase in  apoptosis  (programmed cell death).  However, cells with diminished activity for either proteins  HMGA1  or  HMGA2  (or both together) are more tolerant of such DNA damage than cells in which these proteins are not diminished. [ 3 ]  Thus a normal function of the HMGA1 and HMGA2 proteins appears to be to signal the presence of DNA damage leading to induction of apoptosis. [ 3 ]


Variations in HMGA2 to have a moderate association with adult height. [ 4 ] [ 5 ]


Homothorax  (HTH or HTX) is a transcriptional co-factor to  Hox genes  that is closely connected with  extradenticle . [ 1 ]  It may play a role in the identification of segments during  panarthropod  development. [ 2 ]  The gene acts in a similar way across the panarthropod phyla, although its expression pattern is reversed in the millipedes, centipedes and crustaceans. [ 3 ]


In  genetics , the term  horizontal resistance  was first used by  J. E. Vanderplank [ 1 ]  to describe many-gene resistance, which is sometimes also called  generalized resistance . [ 2 ]  This contrasts with the term  vertical resistance  which was used to describe single-gene resistance.  Raoul A. Robinson [ 3 ]  further refined the definition of horizontal resistance.  Unlike vertical resistance and parasitic ability, horizontal resistance and horizontal parasitic ability are entirely independent of each other in genetic terms.


In the first round of breeding for horizontal resistance, plants are exposed to pathogens and selected for partial resistance. Those with no resistance die, and plants unaffected by the pathogen have vertical resistance and are removed.  The remaining plants have partial resistance and their seed is stored and bred back up to sufficient volume for further testing.  The hope is that in these remaining plants are multiple types of partial-resistance genes, and by crossbreeding this pool back on itself, multiple partial resistance genes will come together and provide resistance to a larger variety of pathogens.


Successive rounds of breeding for horizontal resistance proceed in a more traditional fashion, selecting plants for disease resistance as measured by yield. These plants are exposed to native regional pathogens, and given minimal assistance in fighting them. [ 4 ]


HT-TALENS  ( HIV-targeted transcription activator-like effector nucleases ) is an engineered plant  protein  that is a proposed cure for  AIDS . [ 1 ] [ 2 ]


The  HIV  genome is made from  RNA  rather than  DNA . The  enzyme  that converts RNA to DNA and then inserts it into a cell makes between one and 10 mistakes every time it copies itself. This high error rate means that the  virus  population that inhabits each HIV patients is genetically diverse. [ 1 ]


When the HIV virus infects someone, it copies its DNA and inserts into the DNA of  white blood cells , making the virus part of its host. Even if these genes could be silenced with drugs, (later) stopping the drugs sets the viral DNA free to attack the patient. [ 1 ]


HT-TALENs binds to that sequence and cuts the HIV DNA, but not human DNA. When that cut gets fixed by the cell's  DNA repair  system, it makes a scar that leaves the virus unable to return and make HIV DNA cells. 60% of the cells making the protein damage the viral DNA. [ 1 ]


Human Epigenome  Project  ( HEP ) is a multinational science project, with the stated aim to "identify, catalog, and interpret  genome-wide DNA methylation patterns  of all human genes in all major tissues". [ 1 ]  It is financed by government funds as well as private investment, via a consortium of genetic research organisations.


The call for such a project was widely suggested and supported by cancer research scientists from all over the world. [ 2 ] [ 3 ] [ 4 ] [ 5 ]


The HEP consortium is made up of the following organizations: [ citation needed ]


The  Human Genetics Society of Australasia  ( HGSA ) is a membership organization for individuals in the field of  human genetics  who primarily practise in the  Oceania  region. Members typically hold both a qualification in human genetics and work in the field. Membership is drawn from clinical, laboratory and academic specialties. Members include clinical geneticists; genetic counsellors; laboratory scientists (molecular, cytogenetic and biochemical genetics); and academics (lecturers and researchers).


The objectives of the Society are to:


The Human Genetics Society of Australasia was founded subsequent to the growth in the field of genetics that occurred during the mid-twentieth century. During this time, the role that genetics plays in human health and disease became increasingly recognized. Genetic diagnostic techniques (in particular, in cytogenetics) were progressing rapidly. This coincided with the appreciation by medical specialists that genetic disorders, especially inborn errors of metabolism and birth defects, were of clinical interest.


In 1976, a meeting in clinical genetics was held as part of the celebrations of the Centenary Year of the  Adelaide Children's Hospital . The meeting involved several high-profile international speakers, most of the senior medical practitioners with an interest in heritable disease working in Australia and New Zealand, and delegates of the annual meeting of local cytogeneticists. The group agreed that a small working group should be charged with setting up a human genetics society for the region. Subsequently, the  Human Genetics Society of Australasia  was formally incorporated in South Australia in 1977 to serve the Australia and New Zealand region. [ 1 ]  The original group consisted of 19 Foundation Members, paying just $A10  per annum  for membership. [ 2 ]


The HGSA is governed by a council, presided over by the president. The day-to-day strategic decision making is undertaken by an executive of council, consisting of the president, vice-president, treasurer and secretary. The Society employs a chief executive officer to run the administrative functions of the organization.


Executive members of HGSA council are elected to their positions by popular vote from the membership. The remainder of the council is representative of the membership. The jurisdictions are represented by the chairpersons of HGSA branches, while the special interest groups are represented by their chairs.


Council has the capacity to establish committees to undertake long-term high-level activities of the society. Longstanding committees include the Scientific Programme Committee; Annual Scientific Meeting Local Organising Committee; and the Education, Ethics and Social Issues Committee. [ 3 ]


As of 2021 [update] , the organization had approximately 1200 members. Persons wishing to become members of the Society must be nominated for membership by two existing voting members. Membership then must be endorsed by the Chair of the jurisdictional Branch in which the applicant lives. In the case of overseas applicants, it is the role of the Council Executive to approve admission to the Society.


Most members also belong to at least one of the five Special Interest Groups of the Society that represent members' primary field of practice in human genetics:


The Annual Scientific Meeting of the HGSA is a conference of international regard. It has been held  annually  since 1977, usually in early August. The meeting features plenary presentations from invited international experts in the field of human genetics.


The conference provides a forum for members to showcase their own work in the fields of clinical genetics; genetic counselling; molecular genomics; cytogenomics; biochemical genomics and inborn errors of metabolism; ethics, legal and social issues; and education. A satellite day is held prior to the meeting for the Special Interest Groups to each hold a meeting of their own.


The Society's two peak events, the  HGSA Oration  and the  Sutherland Lecture , are both delivered at the meeting.


The HGSA honours one eminent member annually by inviting them to present the  HGSA Oration  at the Annual Scientific Meeting. Additionally, one outstanding mid-career researcher is invited to deliver a presentation at the Annual Scientific Meeting to showcase their work in the  Sutherland Lecture , named in honour of Prof  Grant Sutherland .


Each year, the membership is invited to nominate eminent retiring members to  Emeritus Membership  of the Society. Nominations are called for members who have contributed significantly to the running and welfare of the Society for a  Service Award . HGSA Council scrutinizes and considers these nominations before awarding.


The HGSA oversees professional training and certification in the fields of Diagnostic Genomics and  Genetic Counseling . Two Boards of Censors oversee training in these two respective fields. The HGSA partners with the  Royal College of Pathologists of Australasia  to train senior diagnostic genomicists to become Fellows of the Faculty of Science. [ 4 ]


The  Australasian Association of Clinical Geneticists  (AACG), a Special Interest Group of the HGSA, has direct ties with the  Royal Australasian College of Physicians  (RACP), which is the body that oversees training and accreditation in  clinical genetics  in  Australasia . The AACG advises the RACP on curricula and training requirements. In addition, members of the AACG supervise the clinical training of RACP trainees in clinical genetics. The AACG also oversees a lecture series for clinical genetics trainees.


The HGSA hosts a large number of educational events throughout the year to help members undertake continuing professional development. In addition to the Society's Annual Scientific Meeting, members have access to a large number of webinars that are broadcast across Australia and New Zealand. Furthermore, each Branch holds face-to-face educational activities, such as lectures and symposia, for local members.


The HGSA oversees the regulation of the  genetic counselling  profession throughout Australia and New Zealand. The profession self-regulates under the auspices of  the National Alliance of Self-Regulation Health Professions . The HGSA maintains a register of appropriately qualified genetic counsellors, accredits and records their mandatory continuing professional development activities, and provides a mechanism to deal with professional concerns and complaints of genetic counsellors. [ 5 ]


As the pre-eminent body representing human genetics in  Oceania , the HGSA authors numerous policies and position statements to guide practitioners in the region. Such documents cover diverse topics such as genomic testing; screening for genetic disorders; ethical practice in genomics; genetic education; and clinical service delivery. [ 6 ]


In addition, the HGSA actively comments on policy and guidelines authored by other institutions and provides expert advice to government and genomic regulatory authorities. [ 7 ]


The  human identical sequence (HIS)  is a sequence of RNA elements, 24-27  nucleotides  in length, that  coronavirus  genomes share with the  human genome . [ 1 ]  In pathogenic progression, HIS acts as a  NamiRNA  (nuclear activating miRNA) through the NamiRNA- enhancer  network to activate neighboring host genes. [ 2 ] [ 3 ]  The first HIS elements was identified in the  SARS-CoV-2  genome, which has five HIS elements; other human coronaviruses have one to five. [ 1 ]  It has been suggested that these sequences can be more generally termed "host identical sequences" since similar correlations have been found between the genome of SARS-CoV-2 and multiple potential hosts ( bats ,  pangolins , ferrets, and cats). [ 1 ]


Human satellite II  is an exceptionally high-copy but unexplored sequence of the human genome thought of as  junk DNA  has a surprising ability to impact master regulators of our genome, and it goes awry in 50 percent of tumors. [ 1 ]


Because HSAT-II DNA is normally methylated (a form of  gene regulation ), it remains dormant in healthy cells. For this reason, the HSAT-II hasn't been extensively studied and has not been thought to have a function. Due to its similarities to Human Satellite 3, the primary sequence component of the traditional human satellite fraction II (also known as Human Satellite 2 or HSat2) is sometimes incorrectly marked by RepeatMasker. In RepeatMasker annotations, both repeats frequently appear as a mixed pattern of "HSATII" and "(CATTC)n simple repeats." Based on this problem, Oxford Nanopore Technologies researcher used their  own characterization of these sequences inside the CHM13 genome To further classify each HSat2 array into its previously identified subfamilies. [ 2 ]


In fact, standard genomic experiments intentionally screen HSAT-II out of the results. Both  herpes  viruses and cancer manipulate this same pathway causing genetic instability and disease. [ 3 ]


A  humster  is a  hybrid   cell line  made from a  zona-free   hamster   oocyte  fertilized with human sperm. [ 1 ]  It always consists of single cells, and cannot form a multi-cellular being. Humsters are usually destroyed before they  divide into two cells ; if isolated and left alone to divide, they would still be  unviable . [ 2 ]


Humsters are routinely created mainly for two reasons:


Somatic cell hybrids between humans and hamsters or mice have been used for the mapping of various traits since at least the 1970s. [ 3 ]


Hybrid growth disorders  refer to reduced growth or overgrowth in an organism that is a  hybrid  of two different species. [ 1 ]  In some sense, it is a type of  hybrid dysgenesis  when the growth disorder proves deleterious, making it the opposite of  heterosis or hybrid vigour . [ 2 ] [ 3 ]


Hybrid growth disorders may be referred to as a  growth dysplasia , especially when resulting in overgrowth, although this terminology may be confusing since the term  dysplasia  is commonly used to imply an impending cancer. [ 4 ]  However, a hybrid growth disorder is not caused by cancer.


Hybrid growth disorders are exhibited among a variety organisms, including  ligers ,  tigons , hybrid mice, and hybrid dwarf hamsters. [ 5 ] [ 6 ]


A study on hybrid mice which investigated the possible causes for hybrid growth disorders reveals  genomic imprinting  to have a major effect. [ 6 ]  Paternal imprinting may increase growth to maximize maternal resources allocated to his progeny, while maternal imprinting may suppress growth in favor of ensuring her own survival and equal allocation of resources between offspring. [ 7 ]  This suggests that the extent of a disorder depends on the combination of parental species and their respective sexes, as demonstrated by the Vrana study. [ 6 ]  The study concludes that hybrid growth disorders most commonly affect the  heterozygous  sex, as expected by  Haldane's rule . [ 8 ] [ 9 ]  This would also explain why hybrid growth disorders often appear to affect one sex more than the other.


Similarly, a study of hybrids between dwarf hamster species  Phodopus campbelli  and  Phodopus sungorus  suggests that gene imprinting causes abnormal interactions between growth-promoting and growth-repressing genes which regulate placental and embryonic growth. [ 1 ]


Alleles  have  identity by type  ( IBT ) when they have the same  phenotypic effect  or, if applied to a variation in the composition of DNA such as a  single nucleotide polymorphism , when they have the same  DNA sequence .


Alleles that are identical by type fall into two groups; those that are  identical by descent  (IBD) because they arose from the same allele in an earlier generation; and those that are  non-identical by descent  (NIBD) because they arose from separate  mutations . NIBD can also be  identical by state  ( IBS ) though, if they share the same mutational expression but not through a recent common ancestor.  Parent-offspring pairs share 50% of their genes IBD, and monozygotic twins share 100% IBD.


The  Illinois long-term selection experiment  is an ongoing  long-term   artificial selection  experiment that has been conducted on the kernel of  maize  ( Zea mays ) in  Illinois  since 1896, making it the longest-running  directional selection  project conducted on  plants  and one of the longest-running experiments in all of  biology . The experiment was initiated by  Cyril G. Hopkins , originally with the goal of altering the levels of oil and protein in the kernel. It has proven successful at increasing levels of oil and protein, as well as other related  quantitative traits , over more than 100 generations. [ 1 ] [ 2 ] [ 3 ]  A 2007 paper about the experiment noted that "progress from selection was much greater than could have been predicted". The paper also highlighted that limits to selection were observed for low, but not high, oil and protein levels. [ 4 ]


Impalefection  is a method of  gene delivery  using  nanomaterials , such as  carbon nanofibers ,  carbon nanotubes ,  nanowires . [ 1 ]  Needle-like  nanostructures  are synthesized perpendicular to the surface of a  substrate .  Plasmid   DNA  containing the gene, and intended for  intracellular delivery , is attached to the nanostructure surface. A chip with arrays of these needles is then pressed against cells or tissue. Cells that are impaled by nanostructures can express the delivered gene(s).


As one of the types of  transfection , the term is derived from two words –  impalement  and  infection .


One of the features of impalefection is spatially resolved  gene delivery  that holds potential for such  tissue engineering  approaches in  wound healing  as  gene activated matrix  technology. [ 2 ]  Though impalefection is an efficient approach  in vitro , it has not yet been effectively used  in vivo  on live organisms and tissues. [ 3 ]


Vertically aligned  carbon nanofiber  arrays prepared by  photolithography  and plasma enhanced chemical vapor deposition are one of the suitable types of material. [ 4 ]  Silicon nanowires are another choice of  nanoneedles  that have been utilized for impalefection.


Index selection  is a method of  artificial selection  in which several useful traits are selected simultaneously. [ 1 ]  First, each trait that is going to be selected is assigned a weight – the importance of the trait. I.e., if you were selecting for both height and the coat darkness in dogs, if height were the more important of the two one would assign that a higher weighting. For instance, height's weighting could be ten and coat darkness could be one. This weighting value is then multiplied by the observed value in each individual animal and then the score for each of the characteristics is summed for each individual. This result is the index score and can be used to compare the worth of each organism being selected. Therefore, only those with the highest index score are selected for breeding via artificial selection.


This method has advantages over other methods of artificial selection, such as  tandem selection , in that you can select for traits simultaneously rather than sequentially. Thereby, no useful traits are being excluded from selection at any one time and so none will stagnate or reverse while you concentrate on improving another property of the organism. However, its major disadvantage is that the weightings assigned to each characteristic are inherently quite hard to calculate precisely and so require some elements of trial and error before they become optimal to the breeder. [ 2 ]


The selection index theory is well described in  Erling Strandberg and Birgitte Malmfors's notes  under the headings Genetic Evaluation.
Calculation of a selection index based on actual data can be carried out using an applet made by Knud Christensen. The applet can be found  here


The  infinitesimal model , also known as the  polygenic model , is a widely used  statistical model  in  quantitative genetics  and in  genome-wide association studies . Originally developed in 1918 by  Ronald Fisher , it is based on the idea that variation in a  quantitative trait  is influenced by an infinitely large number of  genes , each of which makes an infinitely small (infinitesimal) contribution to the phenotype, as well as by environmental factors. [ 1 ]  In " The Correlation between Relatives on the Supposition of Mendelian Inheritance ", the original 1918 paper introducing the model, Fisher showed that if a trait is  polygenic , "then the random sampling of  alleles  at each gene produces a continuous,  normally distributed   phenotype  in the population". [ 2 ]  However, the model does not necessarily imply that the trait must be normally distributed, only that its genetic component will be so around the average of that of the individual's parents. [ 3 ]  The model served to reconcile  Mendelian genetics  with the continuous distribution of quantitative traits documented by  Francis Galton . [ 4 ]


The model allows  genetic variance  to be assumed to remain constant even when  natural selection  is occurring, because each locus makes an infinitesimal contribution to the variance. [ 5 ]  Consequently, all decline in genetic variance is assumed to be due to  genetic drift . [ 6 ]  It also relies on the fact that there must be a large enough number of loci for the distribution of loci to be normal, an assumption which breaks down if a trait is influenced by a small number of loci. According to one research group, the model "…is obviously not an exact representation of the genome of any species," as humans do not have an infinite number of genes, "but is a useful assumption to make in genetic evaluation," such as "explaining the underlying variation of a trait." [ 7 ]  Some phenotypes undergo  evolutionary adaptation  such that they involve a modest number of loci of large effect. [ 8 ]  Complex traits, however, have been shown to be largely explained by additive effects, with dominance being of negligible importance, though dominance and epistasis are still relevant for rare Mendelian disorders. [ improper synthesis? ] [ 9 ] [ 10 ] [ 11 ] [ 12 ] [ 13 ] [ 14 ] [ 15 ]


Inflammatory bowel disease-22  is a human  phenotype  with  Mendelian Inheritance in Man  (MIM) symbol IBD22 [ 1 ]  and associated with genetic  locus  17q21.2 on the long arm of  chromosome 17 . [ 2 ]


The phenotype may be associated with variation in  STAT3  or  ORMDL3  genes. [ 1 ]


The Institute of Predictive and Personalized Medicine of Cancer  (IMPPC) ( Barcelona ) is located in  Badalona  as a research institute set up by the  Consejo Superior de Investigaciones Científicas  (CSIC), the  Universitat Autònoma de Barcelona  (UAB), the City Council of  Badalona , the  Catalan Institute of Health  (ICS), The  Germans Trias i Pujol University Hospital  (HUGTiP) and the  Institute for Health Science Research Germans Trias i Pujol  (FIICSGTiP). The IMPCC is adjacent to the Institute for Health Science Research Germans Trias i Pujol. The mission of the IMPPC is to identify the molecular patterns that are predictors of the development of a cancer and can inform its personalized treatment.


Integrons  are genetic mechanisms that allow bacteria to adapt and evolve rapidly through the stockpiling and expression of new genes. [ 1 ]  These genes are embedded in a specific genetic structure called  gene cassette  (a term that is lately changing to integron cassette) that generally carries one promoterless  open reading frame  (ORF) together with a recombination site ( attC ). Integron cassettes are incorporated to the  attI  site of the integron platform by  site-specific recombination  reactions mediated by the integrase.


Integrons were initially discovered on conjugative plasmids through their role in antibiotic resistance. [ 2 ]  Indeed, these mobile integrons, as they are now known, can carry a variety of cassettes containing genes that are almost exclusively related to antibiotic resistance. Further studies have come to the conclusion that integrons are chromosomal elements, and that their mobilisation onto plasmids has been fostered by transposons and selected by the intensive use of antibiotics. The function of the majority of cassettes found in chromosomal integrons remains unknown.


Cassette maintenance requires that they be integrated within a replicative element (chromosome, plasmids). The integrase encoded by the integron preferentially catalyses two types of recombination reaction: 1) attC x attC, which results in cassette excision, 2) attI x attC, which allows integration of the cassette at the attI site of the integron. Once inserted, the cassette is maintained during cell division. [ 3 ]  Successive integrations of gene cassettes result in the formation of a series of cassettes. The cassette integrated last is then the one closest to the Pc promoter at the attI site. The IntI-catalysed mode of recombination involves structured single-stranded DNA and gives the attC site recognition mode unique characteristics. [ 4 ]  The integration of gene cassettes within an integron also provides a Pc promoter that allows expression of all cassettes in the array, much like an operon. [ 3 ]  The level of gene expression of a cassette is then a function of the number and nature of the cassettes that precede it. In 2009,  Didier Mazel  and his team showed that the expression of the IntI integrase was controlled by the bacterial SOS response, thus coupling this adaptive apparatus to the stress response in bacteria. [ 5 ]


An integron is minimally composed of: [ 6 ] [ 7 ]


Additionally, an integron will usually contain one or more gene cassettes that have been incorporated into it. The gene cassettes may encode genes for  antibiotic resistance , [ 9 ]  although most genes in integrons are uncharacterized. An  attC  sequence (also called 59-be) is a repeat that flanks cassettes and enables cassettes to be integrated at the  attI  site, excised and undergo  horizontal gene transfer .


Integrons may be found as part of  mobile genetic elements  such as  plasmids  and  transposons . Integrons can also be found in  chromosomes .


The term  super-integron  was first applied in 1998 (but without definition) to the integron with a long cassette array on the small chromosome of  Vibrio cholerae . [ 10 ] [ 11 ]  The term has since been used for integrons of various cassette array lengths or for integrons on bacterial chromosomes (versus, for example, plasmids).  Use of "super-integron" is now discouraged since its meaning is unclear. [ 10 ]


In more modern usage, an integron located on a bacterial chromosome is termed a  sedentary chromosomal integron , and one associated with transposons or plasmids is called a  mobile integron . [ 12 ]


Interkinesis  or  interphase II  is a period of rest that  cells  of some species enter during  meiosis  between  meiosis I  and  meiosis II . [ 1 ] [ 2 ]  No  DNA replication  occurs during interkinesis; however, replication does occur during the interphase I stage of meiosis (See  meiosis I ). During interkinesis, the  spindles of the first meiotic division disassembles and the microtubules reassemble into two new spindles for the second meiotic division. [ 3 ]   Interkinesis follows telophase I; however, many plants skip  telophase  I and interkinesis, going immediately into  prophase  II. Each  chromosome  still consists of two  chromatids . In this stage other organelle number may also increase.


The  International Congress of Human Genetics  is the foremost meeting of the international  human genetics  community. The first Congress was held in 1956 in  Copenhagen , and has met every five years since then with the exception of the 2021 meeting which was postponed for two years because of the global  COVID-19 pandemic . The Congress is held under the auspices of the International Federation of Human Genetics Societies, [1]  an umbrella organization founded by the  American Society of Human Genetics , the  European Society of Human Genetics  and the  Human Genetics Society of Australasia . Congresses have been held in such diverse venues as  Berlin ,  Brisbane ,  Chicago ,  The Hague ,  Jerusalem ,  Mexico City ,  Paris ,  Rio de Janeiro ,  Vienna  and  Washington .


The purview of the International Congress of Human Genetics is all aspects of human genetics, including research, clinical practice, and education. The Congress now attracts thousands of participants, including  M.D.  medical geneticists,  Ph.D.  human geneticists and  genetic counselors  from 80 or more countries. It is by far the largest human genetics meeting in the world.


The  IsrM RNA  is a small  non-coding RNA  discovered in  Salmonella   pathogenicity island , which is not found in  E.coli . [ 1 ]  It is important for invasion of epithelial cells, intracellular replication inside macrophages, virulence and colonisation in mice. It targets the SopA and HilE mRNAs, virulence factors essential for bacterial invasion. It is a first pathogenicity island-encoded sRNA shown to be directly involved in  Salmonella  pathogenesis. [ 2 ]


NM_001267593 NM_010603


NP_001254522 NP_034733


ATP-sensitive inward rectifier potassium channel 12  is a  lipid-gated ion channel  that in humans is encoded by the  KCNJ12   gene . [ 5 ] [ 6 ] [ 7 ] [ 8 ] [ 9 ]


This gene encodes an  inwardly rectifying K +  channel  that may be blocked by divalent cations. This protein is thought to be one of multiple inwardly rectifying channels that contribute to the cardiac inward rectifier current (IK1). The gene is located within the  Smith–Magenis syndrome  region on chromosome 17. [ 9 ]


KCNJ12 has been shown to  interact  with:


Korean Genome Project  (Korea1K) is the largest  genome sequencing  project in  Korea , first launched in 2015 as part of the  Genome Korea in Ulsan . As of 2021, the project has sequenced over 10,000 human genomes and is the first large-scale data base for constructing a genetic map and diversity analysis of Koreans. [ 1 ] [ 2 ]


KGP was originated from the national initiative of sequencing the reference Korean and whole population genomes in 2006 by  KOBIC ,  KRIBB  and  NCSRD , KRISS,  Daejeon  in Korea. From 2009, KGP was supported by the  Genome Research Foundation  and TheragenEtex to build the  Variome  of Koreans as well as the Korean Reference Genome ( KOREF ). Starting from KOREF, a consensus variome reference, providing information on millions of variants from 40 additional ethnically homogeneous genomes from the Korean  Personal Genome Project  was completed in 2017. [ 3 ]  Updating the technology an improved version of KOREF was then constructed using  long-read sequencing  data produced by  Oxford Nanopore  PromethION and  PacBio  technologies has been released showcasing newer assembly technologies and techniques. [ 4 ]  In 2022 a new chromosome-level  haploid  assembly of KOREF was published, assembled using  Oxford Nanopore Technologies  PromethION,  Pacific Biosciences  HiFi-CCS, and Hi-C technology. [ 5 ]


Since 2014, KGP has been supported by  Ulsan National Institute of Science and Technology , Clinomics, and Ulsan City, Ulsan, Korea. [ citation needed ]


Korea1K) has been used in sequencing technologies such as  MGI  DNBSEQ-T7 and  Illumina  HiSeq2000, HiSeq2500, HiSeq4000, HiSeqX10, and NovaSeq6000 sequencing technologies. [ 6 ]  The variome data has been a reference to study the origin and composition of Korean ethnicity when compared to  ancient DNA  sequences. [ 7 ]


Korea1K released 1,094 Korean whole genome sequences on 27 May 2020, published in  Science Advances . [ 8 ]


In April 2024, Korea4K was published, making whole genome sequences of 4,157 Koreans publicly accessible alongside an imputation reference panel and 107  phenotypes  derived from extensive health check-ups. [ 9 ]


KoVariome  is the  variome  of Korean ethnic groups. It was initiated in 2010 when the Genome Research Foundation in Korea was established. KoVariome has produced around 100 Korean genome diversity data on 4 April 2018 in Scientific Reports [ 1 ]  and 1,094 Korean genome variation information on 27 May 2020. [ 2 ]


This article about  ethnicity  is a  stub . You can help Wikipedia by  expanding it .


LAMB4  is a  laminin  gene.


The  lineage markers  are characteristic molecules for  cell lineages , e.g.  cell surface markers ,  mRNAs , or internal  proteins . Certain antibodies can be used to detect or purify cells with these markers by binding to their surface antigens. A standard cocktail of  antibodies  can be designed to remove or purify mature  hematopoietic cells  or to detect  Cluster of differentiation  from a sample. Those antibodies are e.g. targeted to  CD2 ,  CD3 ,  CD4 ,  CD5 ,  CD8 ,  NK1.1 ,  B220 , TER-119, and Gr-1 in mice and CD3 (T lymphocytes),  CD14  (Monocytes),  CD16  (NK cells, granulocytes),  CD19  (B lymphocytes),  CD20  (B lymphocytes), and  CD56  (NK cells) in humans. [ 1 ]


Lineage markers  include mitochondrial  DNA  ( mtDNA ) and  Y-chromosome  short tandem repeat ( Y-STR ) haplotypes that are transferred directly from generation to generation either from mother to child in the case of mtDNA, or from father to son in the case of the  Y-chromosome .  X-chromosome  markers are another tool that can be used for genetic identity testing. Lineage markers can be helpful in missing persons investigations, disaster victim identification, forensic casework where other evidence is limited, and some complex kinship situations.  X-chromosome  analysis is especially helpful in assessing some kinship scenarios. [ 2 ]


In  statistical genetics ,  linkage disequilibrium score regression  ( LDSR [ 1 ]  or  LDSC [ 2 ] ) is a technique that aims to quantify the separate contributions of  polygenic  effects and various  confounding  factors, such as  population stratification , based on  summary statistics  from  genome-wide association studies  (GWASs). The approach involves using  regression analysis  to examine the relationship between  linkage disequilibrium  scores and the  test statistics  of the  single-nucleotide polymorphisms  (SNPs) from the GWAS. Here, the "linkage disequilibrium score" for a SNP "is the sum of LD  r 2  measured with all other SNPs". [ 3 ]


LDSC can be used to produce SNP-based  heritability  estimates, to partition this heritability into separate categories, and to calculate  genetic correlations  between separate  phenotypes . Because the LDSC approach relies only on summary statistics from an entire GWAS, it can be used efficiently even with very large sample sizes. [ 4 ]  In LDSC, genetic correlations are calculated based on the deviation between  chi-square statistics  and what would be expected assuming the  null hypothesis . [ 1 ]


LDSC can also be applied across traits to estimate genetic correlations. This extension of LDSC, known as  cross-trait LD score regression , has the advantage of not being biased if used on overlapping samples. [ 5 ] [ 6 ]  Another extension of LDSC, known as  stratified LD score regression  (abbreviated  SLDSR ), [ 7 ]  aims to partition heritability by functional annotation by taking into account  genetic linkage  between  markers . [ 8 ] [ 9 ]


In  genetics ,  macrosatellites  are the largest of the  tandem repeats  within  DNA . Each macrosatellite repeat typically is several thousand  base pairs  in length, and the entire repeat array often spans hundreds of kilobases. [ 1 ]  Reduced number of repeats on  chromosome 4  (D4Z4 repeats) causes  euchromatization  of local DNA and is the predominant cause of  facioscapulohumeral muscular dystrophy  (FSHD). [ 2 ]  Other macrosatellites are RS447, NBL2 and  DXZ4 , [ 3 ] [ 1 ] [ 4 ] [ 5 ]  although RS447 is also commonly referred to as a "megasatellite."


In  bacterial   genetics , the  mal regulon  is a  regulon  - or group of  genes  under common  regulation  - associated with the  catabolism  of  maltose  and  maltodextrins . The system is especially well characterized in the  model organism   Escherichia coli , where it is classically described as a group of ten genes in multiple  operons  whose  expression  is regulated by a single  regulatory protein ,  malT . MalT binds to maltose or maltodextrin and undergoes a  conformational change  that allows it to bind  DNA  at sequences near the  promoters  of genes required for uptake and catabolism of these sugars. The maltose regulation system in  E. coli  is a classic example of  positive regulation . [ 1 ] [ 2 ] : 344, 546   malT is regulated by  catabolite repression  via the  catabolite activator protein . [ 1 ]  Genes under the control of malT include  ATP-binding cassette transporter  components,  maltoporin ,  maltose binding protein , and several  enzymes . [ 1 ] [ 3 ]  Other  Gram-negative  bacteria such as  Klebsiella pneumoniae  have additional genes under the control of malT. [ 1 ]


In many  Gram-positive  bacteria, such as  Streptococcus pneumoniae , maltose catabolism is regulated differently, via a  transcriptional   repressor  called malR, in the  lac repressor  family. [ 4 ]


Mammaglobin  is a  gene  that encodes a 10- kilodalton   glycoprotein . [ 1 ]  In humans,  expression of the gene  is limited to the adult  mammary gland , a  correlation  between increased expression of the gene and  breast cancer  has been reported. [ 2 ] [ 3 ]


Membrane-spanning 4A  genes are members of the  CD20-like family . The MS4A genes are usually organized in a single genomic clusters in mammals, suggestive of  gene duplication  events. [ 1 ]  MS4A genes encode a class of four-transmembrane spanning proteins. MS4A genes have been described to act as a specific kind of  olfactory receptor  in the necklace  olfactory sensory neurons  in mice ( Mus musculus ). [ 2 ]


In human ( Homo sapiens ) the members of this family include:


A  Mendelian error  in the  genetic  analysis of a species,  describes an  allele  in an individual which could not have been received from either of its biological parents by  Mendelian inheritance . Inheritance is defined by a set of related individuals who have the same or similar  phenotypes  for a locus of a particular gene.  A Mendelian error means that the very structure of the inheritance as defined by analysis of the parental genes is incorrect: one parent of one individual
is not actually the parent indicated; therefore the assumption is that the parental information is incorrect. [ 1 ]


Possible explanations for Mendelian errors are  genotyping  errors, erroneous assignment of the individuals as relatives, or  de novo  mutations.  Mendelian error is established by demonstrating the existence of a trait which is inconsistent with every possible combination of  genotype  compatible with the individual.  This method of determination requires  pedigree  checking, however, and establishing a contradiction between phenotype and pedigree is an  NP-complete  problem.  Genetic inconsistencies which do not correspond to this definition are Non-Mendelian Errors.


Statistical genetics analysis is used to detect these errors and to detect the possibility of the individual being linked to a specific disease linked to a single gene. Examples of such diseases in humans  caused by single genes are  Huntington's disease  or  Marfan syndrome . [ 2 ]


Methylation specific oligonucleotide microarray , also known as  MSO microarray , was developed as a technique to map  epigenetic methylation  changes in  DNA  of  cancer  cells. [ 1 ]


The general process starts with modification of DNA with  bisulfite , specifically to convert  unmethylated  cytosine in  CpG sites  to uracil, while leaving  methylated  cytosines untouched. [ 1 ]  The modified DNA region of interest is amplified via  PCR  and during the process, uracils are converted to thymine. The  amplicons  are labelled with a  fluorescent dye  and hybridized to oligonucleotide  probes  that are fixed to a glass slide. [ 2 ]  The probes differentially bind to cytosine and thymine residues, which ultimately allows discrimination between methylated and unmethylated CpG sites, respectively. [ 1 ]


A calibration curve is produced and compared with the microarray results of the amplified DNA samples. This allows a general quantification of the proportion of methylation present in the region of interest. [ 3 ]


This microarray technique was developed by Tim Hui-Ming Huang and his laboratory and was officially published in 2002. [ 1 ]


Cancer  cells often develop atypical  methylation  patterns, at  CpG sites  in promoters of  tumour suppressor genes . High levels of methylation at a promoter leads to downregulation of the corresponding genes and is characteristic of  carcinogenesis . It is one of the most consistent changes observed in early stage tumour cells. [ 1 ]  Methylation specific oligonucleotide microarray allows for the high resolution and high throughput detection of numerous methylation events on multiple gene promoters. Therefore, this technique can be used to detect aberrant methylation in tumour suppressor promoters at an early stage and has been used in gastric and colon cancers and multiple others. [ 4 ] [ 5 ]  Because it allows one to detect presence of atypical methylations in cancer cells, it can also be used to reveal the major cause behind the malignancy, whether its main contributor is mutations on chromosomes or epigenetic modifications, as well as which tumour suppressor genes' transcription levels are affected. [ 2 ] [ 6 ]  An interesting use of this microarray includes specific classification of cancers based on the methylation patterns alone, such as differentiating between classes of  leukemia , suggesting that different classes of cancer show relatively unique methylation patterns. [ 7 ]  This technique has also been proposed to monitor  cancer treatments that involve modifying the methylation patterns  in mutant cancer cells. [ 2 ]


MicL   RNA  (mRNA-interfering complementary RNA regulator of Lpp) is a   σ  E  transcription factor -dependent small  non-coding RNA . It was discovered in  E. coli.   Together with  MicA  and  RybB  sRNAs, MicL sRNA down-regulates the synthesis of abundant outer membrane proteins in response to stress. MicL specifically targets mRNA of lipoprotein Lpp, preventing its translation. [ 1 ]


In  human genetics  the  midparent  value of a  trait  is defined as the  average  of the trait value of the father and a scaled version of that of the mother. This value can be used in a study to analyze the  data set  without heeding sex effects. Studying  quantitative traits  in  heritability  studies may be complicated by  sex differences  observed for the trait.


Well-known examples include studies of humans' height, whose midparent value  h mp  is given by: [ 1 ]


where  h f  is the father's height, and  h m  the mother's.


The  coefficient  1.08 serves as a  scaling factor . After the 1.08 scaling, the mean of the mother's height is the same as that of the father's, and the variance is closer to the father's; in this way, sex difference can be ignored.


Minor allele frequency  ( MAF ) is the frequency at which the  second most common   allele  occurs in a given population. They play a surprising role in  heritability  since MAF variants which occur only once, known as "singletons", drive an enormous amount of selection. [ 1 ]


Single nucleotide polymorphisms  (SNPs) with a minor allele frequency of 0.05 (5%) or greater were targeted by the  HapMap  project. [ 2 ]


MAF is widely used in  population genetics  studies because it provides information to differentiate between common and rare variants in the population.
As an example, a 2015 study sequenced the whole  genomes  of 2,120  Sardinian individuals . The authors classified the variants found in the study in three classes according to their MAF. It was observed that rare variants (MAF < 0.05) appeared more frequently in coding regions than common variants (MAF > 0.05) in this population. [ 3 ]


1.  Introduce the reference of a SNP of interest, as an example:  rs429358 , in a database (dbSNP or other).


2.  Find MAF/MinorAlleleCount link.  MAF/MinorAlleleCount: C=0.1506/754  (1000 Genomes, where number of genomes sampled = N = 2504); [ 4 ]  where  C  is the minor allele for that particular  locus ;  0.1506  is the frequency of the C allele (MAF), i.e. 15% within the 1000 Genomes database; and  754  is the number of times this SNP has been observed in the population of the study. To find the number, note that

 0.1506
 =

 754

 2
 ×
 2504

 {\displaystyle 0.1506={\frac {754}{2\times 2504}}}

 , where

 2
 ×

 {\displaystyle 2\times }

  is to account for  diploidy .


In molecular biology  mir-3 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms. [ 1 ]


In molecular biology  mir-5 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms. mir-5 has been implicated in regulation of  VEGF  in an experiment where a plasmid containing a cluster of mir-5, mir-10 and mir-7 was shown to down-regulate VEGF by 75%. [ 1 ]  mir-5 in chicken has been implicated in targeting genes involved in metabolism. [ 2 ]


In molecular biology  mir-11 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms. There is an evidence to suggest that miR-11 plays a role in  apoptosis . [ 1 ]


Alignment has shown that miR-11 shares the same family motif as  miR-2b  and  miR-6 , together making up the mir-2 clan. There is however little similarity in the 3' ends between these clan members.


In molecular biology  mir-14 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms.


In molecular biology  mir-23 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms. [ 1 ]


In molecular biology  mir-25 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms. mir-25 levels increase in human heart failure, and treatment with an anti-sense RNA molecule (antagomiR) was recently reported to halt disease progression and improves cardiac function in a mouse heart failure model. [ 1 ]


In molecular biology,  mir-42 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms.


mir-48 microRNA  is a  microRNA  which is found in  nematodes , in which it controls developmental timing. It acts in the  heterochronic  pathway, where it controls the timing of cell fate decisions in the vulva and hypodermis during larval development. [ 1 ]


Along with mir-241, mir-48 is found in the lin-58  allele  between the genes hum-5 and  unc-76 . [ 2 ]  It is related to (at least) three other miRNAs  ( let-7 ,mir-84 and mir-241), with which it shares eight identical bases at the 5′ end of the mature miRNA. [ 3 ]


mir-48, along with let-7, mir-84 and mir-241, controls developmental timing events in  C. elegans  proliferative seam cells and hypodermal syncytial cells. Double mutations in mir-48 and mir-214 result in worms displaying a retarded cell lineage phenotype; extra seam cells are observed in the L3 and L4 developmental stages when compared to wild-type worms. It is thought that the extra cells arise due to mutant miRNAs being unable to repress the gene hbl-1, which also plays a role in developmental timing. [ 3 ]


In molecular biology  mir-52 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms.


In molecular biology  mir-58 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms.


In molecular biology  mir-61 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms.


In molecular biology  mir-62 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms.


In molecular biology  mir-67 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms.


In molecular biology  mir-71 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms.


In molecular biology  mir-84 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms.


In molecular biology  mir-153 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms.


In molecular biology  mir-154 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms.


In molecular biology  mir-186 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms.


In molecular biology  mir-187 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms.


miR-187 has been found to be expressed at higher levels in ovarian cancers compared with benign tumours. [ 1 ]  It is known to target  DAB2  (disabled homolog-2), a protein encoded by the  DAB2  gene, with miR-187's target site at the 3'UTR of the  DAB2  gene. DAB2 has been seen to play roles in both  cell proliferation  and tumour progression, and initial expression of miR-187 in cancer cells promotes cell proliferation. However, overexpression suppresses DAB2 and inhibits epithelial to mesenchymal cell transition. High miR-187 levels have accordingly been associated with higher survival rates in ovarian cancer patients. [ 1 ]


[ 2 ]
 [ 3 ]
 [ 4 ]
 [ 5 ]
 [ 6 ]
 [ 7 ]
 [ 8 ]


Expandable. We make separate entries for proteins, etc. Why not these?


In molecular biology  mir-188 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms.


In molecular biology  mir-190 microRNA  is a short  RNA  molecule.  MicroRNAs  function is to regulate the expression levels of other genes by several mechanisms.


In molecular biology  mir-193 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms.


miRNA-193 controls Wing Pigmentation in Lepidoptera


In molecular biology  mir-198 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms.


In molecular biology  mir-202 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms.
The pre-miR-202 in the mouse genome is located fully within an exon, whereas in human it lies across a splice junction. This implies that human miR-202 is exposed to a negative regulation by splicing, whereas murine miR-202 is not. [ 1 ]


MiR-212  is a short  non-coding RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms, generally reducing protein levels through the cleavage of  mRNAs  or the repression of their  translation . Several targets for  miR-132  have been described, including mediators of neurological development,  synaptic transmission , inflammation and  angiogenesis .


Mir-212 has shown a promising value in cancer prognosis and diagnosis. [ 1 ]


The RNA molecule miR-212 arises from the miR-212/132 cluster located in the  intron  of a non-coding gene on mouse  chromosome 11 .


Research in Germany has found that miR-132  and  mir-132  can inhibit cardiac pathology in rodents. [ 2 ]


In molecular biology  mir-216 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms.


In molecular biology  mir-241 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms.


In molecular biology  mir-275 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms.


In molecular biology  mir-277 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms.


In molecular biology  mir-278 microRNA  is a short  RNA  molecule belonging to a class of molecules referred to as  microRNAs . These function to regulate the expression levels of other genes by several mechanisms, primarily binding to their target at its  3'UTR .


miR-278 affects  energy metabolism  in the  Drosophila melanogaster  species. Elevated  insulin  production has been observed in miR-278 mutants, due to insulin resistance in the absence of this microRNA. miR-278 is now known to act through regulation of the  expanded  gene transcript, and most likely through further miR-278 targets as well. [ 1 ]


Misexpression in the developing eye has been found to result in overgrowth, partially through  apoptotic  inhibition. [ 2 ]  There is a  single base substitution  which blocks the gain-of-function  phenotype , indicating the acquisition of novel functions by misexpressed miRNAs which  bring about unscheduled  cell proliferation   in vivo . This is reflective of a microRNA potential in the promotion of tumour formation.


In molecular biology,  mir-281 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms. mir-281 is found in an  intron  of the Drosophila  ornithine decarboxylase antizyme  (ODA) gene. Using the RACE technique the pri-miRNA was shown to be 2,149 nucleotides in length. The expression level of the microRNA was found to be independent of the level of ODA. [ 1 ]


In molecular biology,  mir-282 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms.


In molecular biology  mir-299 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms.


In molecular biology  mir-301 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms.


In molecular biology  mir-305 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms.


In molecular biology  mir-320 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms.


The biogenesis of miR-320 is different from the canonical Microprocessor-dependent miRNAs. The pre-miR-320 is transcribed directly as a precursor microRNA hairpin and thus contains a 5′ m7G-cap.


[ 1 ]
 [ 2 ]
 [ 3 ]
 [ 4 ]
 [ 5 ]
 [ 6 ]
 [ 7 ]
 [ 8 ]


In molecular biology  mir-322 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms.


In molecular biology  mir-326 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms.


In molecular biology  mir-330 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms.


In molecular biology  mir-331 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms.


In  molecular biology ,  mir-337 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms.


In molecular biology  mir-339 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms. miR-339-5p expression was associated with overall survival in breast cancer. [ 1 ]


In molecular biology  mir-340 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms.


In  molecular biology ,  mir-344 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms. The pre-miR-344 is transcribed directly as a precursor microRNA hairpin and thus contains a 5' m7G-cap.


In molecular biology  mir-345 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms.


In molecular biology  mir-346 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms.


In molecular biology  mir-350 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms.


In molecular biology  mir-351 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms.


In molecular biology  mir-361 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms. For example, miR-361-5p might act as a suppressor in triple-negative  breast cancer  (TNBC) by targeting RQCD1 to inhibit the  EGFR/PI3K/Akt signaling pathway . [ 1 ]


In molecular biology  mir-363 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms.


In molecular biology  mir-365 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms.


In molecular biology  mir-367 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms.


miR302/367 cluster , together with  Hdac2  inhibition,  reprograms  human and mouse  fibroblasts  to  iPS cells , faster and more efficient than the custom viral infection ( OSKM ) strategy. Expression of miR367 is essential for  Oct4  expression and miR302/367-mediated reprogramming. [ 1 ]


1. [ 2 ]
2. [ 3 ]
3. [ 4 ]
4. [ 5 ]
5. [ 6 ]
6. [ 7 ]
7. [ 8 ]
8. [ 9 ]
9. [ 10 ]
10. [ 11 ]
11. [ 12 ]


In molecular biology  mir-370 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms. This microRNA, mir-370-3p, has been shown to play a role in heart failure. The upregulation of mir-370-3p in the sinus node leads to downregulation of the pacemaker ion channel, HCN4, and thus downregulation of the corresponding ionic current, which causes sinus bradycardia. [ 1 ]


In molecular biology  mir-374 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms.


In molecular biology  mir-383 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms.


In molecular biology  mir-384 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms.


In  molecular biology   mir-390 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms.


[ 1 ]
 [ 2 ]
 [ 3 ]
 [ 4 ]
 [ 5 ]
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 [ 10 ]
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 [ 20 ]
 [ 21 ]
 [ 22 ]
 [ 23 ]
 [ 24 ]
 [ 25 ]
 [ 26 ]
 [ 27 ]
 [ 28 ]
 [ 29 ]
 [ 30 ]


In molecular biology  mir-394 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms.


In molecular biology  mir-396 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms.


In molecular biology  mir-397 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms.


In molecular biology  mir-398 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms.


mir-399  is a  microRNA  that was identified in both  Arabidopsis thaliana  and  Oryza sativa  computationally and was later experimentally verified. mir-399 is thought to target  mRNAs  coding for a  phosphate  transporter. [ 1 ]  The mature sequence is excised from the 3' arm of the  hairpin . There are multiple copies of MIR399 in each plant genome, for example  A. thaliana  contains six microRNA precursors that all give rise to an almost identical mature miR-399 sequence.


In molecular biology  mir-403 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms.


In molecular biology  mir-408 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms.


Mir-423 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms.


In molecular biology  mir-425 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms.


In  molecular biology   mir-430 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms.


[ 1 ]
 [ 2 ]
 [ 3 ]
 [ 4 ]
 [ 5 ]
 [ 6 ]
 [ 7 ]
 [ 8 ]
 [ 9 ]
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 [ 13 ]
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 [ 15 ]
 [ 16 ]
 [ 17 ]
 [ 18 ]


In molecular biology  mir-431 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms.


In molecular biology  mir-432 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms.


In molecular biology  mir-434 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms.


In molecular biology  mir-444 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms.


In molecular biology  mir-448 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms.


In molecular biology  mir-451 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms.


miR-451 regulates the drug-transporter protein  P-glycoprotein , potentially promoting resistance to the chemotherapy drug  Paclitaxel . [ 1 ]


A  proof-of-concept  experiment has shown that miR-451, as well as  mir-126  and  mir-150 , could be using in  forensic science  to distinguish between  blood  and  saliva  samples. [ 2 ]  This is made possible by different miRNA profiles of miRNAs in the different tissue types. [ 2 ]


In molecular biology  mir-452 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms.


In molecular biology  mir-454 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms.


In molecular biology  mir-455 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms.


In molecular biology  mir-474 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms.


In molecular biology  mir-484 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms.
The precursor hairpin of miR-484 is transcribed directly and contains a 7-methylguanylated cap. The biogenesis of miR-484 is independent of Drosha.


In molecular biology  mir-488 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms.


In molecular biology  mir-489 microRNA  is a short  RNA  molecule.  MicroRNAs  function is to regulate the expression levels of other genes by several mechanisms.


In molecular biology  mir-491 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms.


In molecular biology  mir-492 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms.


In molecular biology  mir-498 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms.


In molecular biology  mir-500 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms.


In molecular biology  mir-504 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms.


In molecular biology  mir-505 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms.


In molecular biology  mir-506 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms.


In molecular biology  mir-529 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms.


In molecular biology  mir-535 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms.


In molecular biology  mir-541 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms.


In molecular biology  mir-542 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms.


In molecular biology  mir-544 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms.


In molecular biology  mir-548 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms.


In  molecular biology   mir-549 microRNA  is a  microRNA , i.e. a short  RNA  molecule. The function of microRNAs is to regulate the  expression  levels of other  genes  by several mechanisms.


In molecular biology  mir-550 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms.


In molecular biology  mir-552 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms. Researchers have detected elevated levels of mir-522 expression in colorectal cancer metastases. [ 1 ]


In molecular biology  mir-558 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms.


In  molecular biology   mir-562 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms.


In molecular biology  mir-569 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms.


In molecular biology  mir-572 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms.


In molecular biology  mir-575 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms.


In molecular biology  mir-580 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms.


In molecular biology  mir-584 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms.


In molecular biology  mir-589 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms.


miR-589 has been implicated in the regulation of antimicrobial targets in  bovine  lung  alveolar macrophages , and alongside other miRNAs has been suggested to play a part in the immune response against  Mycobacterium tuberculosis . [ 1 ]  It has additionally been linked to  HLA-G  expression, having been found to target the  3'UTR  14-base pair sequence region of the HLA-G gene. [ 2 ]


In molecular biology  mir-590 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms.


Downregulation of miR-590 by nicotine has been found to play a key part in the generation of atrial fibrosis by atrial structural remodelling. This downregulation sees the removal of  post-transcriptional  repression of  TGF-β1  and  TGF-β receptor type II  (TGF-βRII), and consequent  collagen  production. [ 1 ]  miR-590 downregulation has further been shown to be mediated by activation of  alpha-7 nicotinic acetylcholine receptors  (α7-nAChRs).


In molecular biology  mir-592 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms.


Significantly altered expression of miR-592 has been observed between tumours deficient and proficient for mismatch repair in  colon cancer . [ 1 ]  Expression levels are lower in the proficient form compared to the deficient, with a more than two-fold change. [ 2 ]  This altered expression has been proposed to reflect a reversion to regulatory programs seen in earlier undifferentiated and proliferative developmental states.


miR-592 expression is also altered in  hepatocellular carcinoma ; it has been shown to be downregulated along with nine other microRNAs.


In molecular biology  mir-598 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms.


In molecular biology  mir-601 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms.


miR-601 has been found to affect a number of different  cell signalling  pathways, more specifically bringing about downregulation of  Fas -induced  apoptosis  and  NF-kappa B  signalling. There is additionally upregulation of the actin  cytoskeleton  and increased negative regulation of  translational  initiation by miR-601. [ 1 ]  The importance of NF-kappa B in tumour cell proliferation and enhanced survival means that miR-601 mimics may hold a lot of promise for prevention or treatment of  carcinogenesis .


miR-602 has further been linked to the development and progression of  gastric cancer , with levels significantly upregulated compared with normal gastric tissue. [ 2 ]


In molecular biology  mir-605 microRNA  is a short  RNA  molecule.  MicroRNAs  function to regulate the expression levels of other genes by several mechanisms.


miR-605 is  transcriptionally  activated by the  p53  protein through interaction with the  promoter region  of its gene. This microRNA in turn  post-transcriptionally  represses the oncoprotein and p53 suppressor  Mdm2 , which acts with p53 in a  negative feedback loop  in p53- wildtype  cancers. Introduction of miR-605 interrupts this p53:Mdm2 interaction and instead there is a  positive feedback loop  in place, enabling rapid p53 accumulation in response to stress. Such p53 accumulation induces cell cycle arrest and  apoptosis . [ 1 ]


mir-612 microRNA  is a short  non-coding RNA  molecule belonging both to the family of  microRNAs  and to that of  small interfering RNAs  (siRNAs). MicroRNAs function to regulate the  expression  levels of other genes by several mechanisms, whilst siRNAs are involved primarily with the  RNA interference  (RNAi) pathway. siRNAs have been linked through some members to the regulation of  cancer  cell growth, specifically in  prostate   adenocarcinoma .


The microRNA miR-2185 has a strong inhibitory effect on the tumour suppressor protein  p53 , acting through targeting its  3'UTR . MiR-612 is of the same seed sequence as miR-2185 but, despite this, is yet to be identified as a p53  inhibitor . [ 1 ]


mir-615 microRNA  is a short  non-coding RNA  molecule belonging both to the family of  microRNAs  and to that of  small interfering RNAs  (siRNAs). MicroRNAs function to regulate the  expression  levels of other genes by several mechanisms, whilst siRNAs are involved primarily with the  RNA interference  (RNAi) pathway. siRNAs have been linked through some members to the regulation of  cancer  cell growth, specifically in  prostate   adenocarcinoma .


Nasopharyngeal carcinoma -associated gene 6 (NGX6) acts as a tumour suppressor gene in  colon cancer . miR-615 has been found to be  downregulated  in NGX6-transfected cells, although identification of its target genes has not yet been achieved. [ 1 ]


miR-615 has been found to reside within  Hox gene  clusters, alongside  Hox  genes other miRNAs.  Hox  genes are involved in  anterior-posterior axis   patterning . miR-615 is located at the  HOXC5  (encdoing the  HOXC5 homeobox protein )  intron  in mammals. [ 2 ]


mir-616 microRNA  is a short  non-coding RNA  molecule belonging both to the family of  microRNAs  and to that of  small interfering RNAs  (siRNAs). MicroRNAs function to regulate the  expression  levels of other genes by several mechanisms, whilst siRNAs are involved primarily with the  RNA interference  (RNAi) pathway. miR-616 has been found to induce the specifically  androgen -independent growth of  prostate cancer  cells. [ 1 ]