Heart malformations, ocular anomalies, and bilateral mixed hearing loss are often present in patients. Genital malformations such as cryptorchidism, hypospadias, clitoromegaly, and hypoplasia are common. In a smaller number of cases, thyroid agenesis, hypothyroidism, intestinal malrotation, and respiratory difficulties are present.


Say-Barber-Biesecker-Young-Simpson syndrome, a variant of Ohdo syndrome is primarily inherited through autosomal dominance. Young-Simpson syndrome is associated with the mutation of the KAT6B gene on chromosome 10q22. [ 11 ]  This is caused by a heterozygous mutation in the KAT6B gene.


The KAT6B gene possesses the instructions to make the enzyme histone acetyltransferase. This enzyme is known to modify histones, which are proteins that can bind to DNA. Histones shape chromosomes, making certain areas of genes active or inactive. [ 8 ]  Additionally, acetyltransferase can add acetyl groups to histones which also controls the activity of certain genes. In Young Simpson syndrome, a mutation of the KAT6B gene and shortage of enzyme acetyltransferase impairs gene regulation during early development, for example, nervous system and skeleton development. [ 8 ]  There is little known about how the specific changes within the KAT6B lead to specific features within the disease or the severity of the disease.


Source [ 8 ]
Diagnosis of Ohdo syndrome, SBBYS variant, is done through clinical examination, brain imaging, and molecular studies. The diagnosis of Ohdo Syndrome, SBBYS variant is based on:


Diagnosis of Ohdo syndrome, SBBYS variant, is often confused with genitopatellar syndrome due to overlapping signs and symptoms. However, mask-like faces, blepharophimosis, and ptosis are symptoms that allow Ohdo syndrome, SBBYS variant, to be distinguished from genitopatellar syndrome. Nevertheless, there is difficulty in distinguishing between the two genetic disorders.


Ohdo syndrome, SBBYS variant was previously diagnosed through clinical examination. Symptoms such as mental retardation, facial dysmorphism, thyroid dysfunction, impaired intellectual development, etc. Additionally, tests such as diffusion tensor magnetic resonance imaging (MRI) and tractography of the brain were used to diagnose the disorder.


Source [ 10 ]
There are currently no known treatments for Ohdo syndrome, SBBYS variant. Management of the syndrome includes regular follow-up based on current complications of the patient and requires specific examinations (pediatric, cardiological, audiometric, orthopedic, neuropsychiatric, ophthalmological, and genetic). Additionally, occupational, physical, speech, feeding, and educational therapy must be conducted depending on the needs of the patient.


Cases of SBBYS are not caused by the parents affected genes however, they are affected by their own mutation on the KAT6B gene. If a doctor does suspect that a child or patient will suffer from SBBYS they are able to diagnose the individual through  genetic testing . SBBYS has no cure and is hard to treat because of how hard it is to diagnose. SBBYS occurs in les than 1 in a million kids.


Zadik–Barak–Levin syndrome (ZBLS)  is a  congenital disorder  in humans. Presenting conditions include primary  hypothyroidism ,  cleft palate ,  hypodontia , and  ectodermal   dysplasia . It is the result of an  embryonic  defect in the  mesodermal -ectodermal midline development.


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


Zamzam–Sheriff–Phillips syndrome  is a rare [ 1 ]   autosomal   recessive   congenital disorder . It is characterized by  aniridia ,  ectopia lentis , abnormal  upper incisors  and  intellectual disability . [ 2 ]  Little research has been undertaken regarding this particular disease, so thus far there is no known gene that affects this condition. However it has been hypothesised that the symptoms described are found at a particular gene, though intellectual disability is believed to be due to a different genetic cause.


Consanguinuity (intermarrying among relatives such as cousins), often associated with autosomal recessive inheritance, has been attributed to the inheritance of this disease. [ 3 ]


Genetics  (from  Ancient Greek   γενετικός   genetikos , “genite” and that from  γένεσις   genesis , “origin” [ 1 ] [ 2 ] [ 3 ] ), a discipline of  biology , is the  science  of  heredity  and  variation  in living  organisms . [ 4 ]


Articles (arranged alphabetically) related to  genetics  include:


The  historical  application of  biotechnology  throughout time is provided below in chronological order.


These discoveries, inventions and modifications are evidence of the application of biotechnology since before the common era and describe notable events in the research, development and regulation of biotechnology.


Some of these items may also have potential nonmedical applications and vice versa.


The  list of organisms by chromosome count  describes  ploidy  or numbers of  chromosomes  in the  cells  of various  plants ,  animals ,  protists , and other living  organisms . This number, along with the visual appearance of the chromosome, is known as the  karyotype , [ 1 ] [ 2 ] [ 3 ]  and can be found by looking at the chromosomes through a  microscope . Attention is paid to their length, the position of the  centromeres , banding pattern, any differences between the  sex chromosomes , and any other physical characteristics. [ 4 ]  The preparation and study of karyotypes is part of  cytogenetics .


(Olea Europaea)


This is a list of notable individuals who have been romantically or maritally coupled with a  full first cousin .


Worldwide, more than 10% of  marriages  are between  first  or  second cousins . [ 1 ]


Cousin marriage  is an important subject in  sociology ,  anthropology , and  alliance theory . [ 2 ]


A


B


C


D


E


F


G


H


J


K


L


M


N


O


P


R


S


T


U


V


W


Y


The following is a list of  United States court  cases on  cousin marriage . Currently only certain cases at the appellate level in the last sixty years are listed.


While there is much commonality, different parts of the tree of life use slightly different  genetic codes . [ 1 ]  When translating from genome to protein, the use of the correct genetic code is essential. The mitochondrial codes are the relatively well-known examples of variation. The translation table list below follows the numbering and designation by NCBI. [ 2 ]  Four novel alternative genetic codes were discovered in bacterial genomes by Shulgina and Eddy using their codon assignment software Codetta, and validated by analysis of tRNA anticodons and identity elements; [ 3 ]  these codes are not currently adopted at NCBI, but are numbered here 34-37, and specified in the table below.


The alternative translation tables (2 to 37) involve  codon reassignments  that are recapitulated in the  DNA and RNA codon tables .


Comparison of alternative translation tables for all codons (using  IUPAC amino acid codes ):


Three translation tables have a peculiar status:


Other mechanisms also play a part in  protein biosynthesis , such as  post-transcriptional modification .


National and international associations and societies for human genetics host regular meetings to advance  human genetics  in science, health, and society through excellence in research, education, and advocacy.


This is a shortened version of the  fourteenth chapter of the ICD-9: Congenital Anomalies . It covers  ICD codes 740 to 759 . The full chapter can be found on pages 417 to 437 of Volume 1, which contains all (sub)categories of the ICD-9. Volume 2 is an alphabetical index of Volume 1. Both volumes can be  downloaded for free  from the website of the  World Health Organization .


The following is a  list of  genetic disorders  and if known, type of  mutation  and for the  chromosome  involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an  abnormality  in the parents that causes the impairment to develop within the child. There are over 6,000 known genetic disorders in  humans .


1:8,000 females


1:40,000 males (hemophilia B)


autosomal dominant, autosomal recessive or X-linked recessive


1:150,000 (type C)


This article provides a list of  genetic engineering  software.


This is a list of  gene families  or  gene complexes , i.e. sets of genes which are related ancestrally and often serve similar biological functions. These gene families typically encode functionally related  proteins , and sometimes the term gene families is a shorthand for the sets of proteins that the genes encode. They may or may not be physically adjacent on the same  chromosome .


The following tables give an overview of notable finds of  hominin   fossils  and  remains  relating to  human evolution , beginning with the formation of the tribe Hominini (the divergence of the  human and chimpanzee lineages ) in the late  Miocene , roughly 7 to 8 million years ago.


As there are thousands of fossils, mostly fragmentary, often consisting of single bones or isolated teeth with complete skulls and skeletons rare, this overview is not complete, but shows some of the most important findings. The fossils are arranged by approximate age as determined by  radiometric dating  and/or  incremental dating  and the species name represents current consensus; if there is no clear scientific consensus the other possible classifications are indicated.


The early fossils shown are not considered ancestors to  Homo sapiens  but are closely related to ancestors and are therefore important to the study of the lineage. After 1.5 million years ago (extinction of  Paranthropus ), all fossils shown are human (genus  Homo ). After 11,500 years ago (11.5 ka, beginning of the  Holocene ), all fossils shown are  Homo sapiens  ( anatomically modern humans ), illustrating  recent divergence  in the formation of  modern human sub-populations .


The chimpanzee–human divergence likely took place during around 10 to 7 million years ago. [ 1 ]  The list of fossils begins with  Graecopithecus , dated some 7.2 million years ago, which may or may not still be ancestral to both the human and the chimpanzee lineage. For the earlier history of the human lineage, see  Timeline of human evolution#Hominidae ,  Hominidae#Phylogeny .


(Niño de la Gran Dolina 342)


Homo neanderthalensis


Denisovan


This is a list of people who have made notable contributions to genetics. The growth and development of genetics represents the work of many people. This  list of geneticists  is therefore by no means complete. Contributors of great distinction to genetics are not yet on the list.


This is a  list of genetic genealogy topics .


This  glossary of cellular and molecular biology  is a list of definitions of terms and concepts commonly used in the study of  cell biology ,  molecular biology , and related disciplines, including  genetics ,  biochemistry , and  microbiology . [ 1 ]  It is split across two articles:


This glossary is intended as introductory material for novices (for more specific and technical detail, see the article corresponding to each term). It has been designed as a companion to  Glossary of genetics and evolutionary biology , which contains many overlapping and related terms; other related glossaries include  Glossary of virology  and  Glossary of chemistry .


Also  three-prime untranslated region ,  3' non-translated region (3'-NTR) , and  trailer sequence .


Also  three-prime end .


Also  five-prime cap .


Also  five-prime untranslated region ,  5' non-translated region (5'-NTR) , and  leader sequence .


Also  five-prime end .


Also  binding site  and  catalytic site .


Also  sex chromosome ,  heterochromosome , or  idiochromosome .


Also  differential splicing  or simply  splicing .


Also  tRNA-ligase .


Also  aminoacylated tRNA  and  charged tRNA .


Also  antisense transcript  and  antisense oligonucleotide (ASO) .


Also  anuclear .


Also  compound X .


Also  biological molecule .


Also  5-bromodeoxyuridine .


Also  CAAT box  or  CAT box .


Also  cellular biology .


Also  plasma membrane ,  cytoplasmic membrane , and  plasmalemma .


Also  cell communication .


Also  cell-mediated immunity .


Also  map unit (m.u.) .


(pl.)  chiasmata


Also  idiomere .


Also  crossing over .


(pl.)  cilia


Also  cis -regulatory module (CRM) .


(pl.)  cisternae


Also  sense strand ,  positive (+) sense strand , and  nontemplate strand .


Also  copy DNA .


Also  confluency .


Also  canonical sequence .


Also  contact inhibition of growth  or  density-dependent inhibition .


Also  cooperative binding .


Also  CG island  and  C-G island .


Also  CG site  and  C-G site .


Also  CRISPR/Cas9 gene editing .


(pl.)  cristae


Also  cross-link .


Also  carboxyl terminus .


Also  C-value paradox .


Also  protoplasmic streaming  and  cyclosis .


Also  hyaloplasm  and  groundplasm .


Denoted in shorthand with the symbol  Δ .


Abbreviated in shorthand with  dA .


Abbreviated in shorthand with  dC .


Abbreviated in shorthand with  dG .


Also  2-deoxyribose .


Denoted in shorthand with the somatic number  2n .


Also  diplotene stage .


Also  repression  or  suppression .


Also  electropermeabilization .


Also  extension .


Also  antigenic determinant .


Also  open chromatin .


Also  expression construct .


Also  intercellular matrix .


Also  extranuclear DNA  and  cytoplasmic DNA .


(pl.)  flagella


Formerly known by the abbreviation  MGED .


Also  Giemsa banding  or  G-banding .


Also  gene amplification .


Also  genetic modification  or  genetic manipulation .


Also  DNA testing  or  genetic screening .


Also  chromosomal DNA .


Also abbreviated  GC-content .


Also  single guide RNA (sgRNA) .


Denoted in shorthand with the somatic number  n .


Also  inheritance .


Also  histone octamer  and  core particle .


Also  homeodomain responsive element .


Also  homologs  or  homologues .


Also  lateral gene transfer (LGT) .


Sometimes used interchangeably with  lipophilic .


Also  ideogram .


Also  insertion element  or simply  insert .


Also  intrinsic membrane protein .


Also  transmembrane protein .


Also  interphase II .


Also  intragenic region .


Also  karyosphere .


Also simply  Kozak sequence .


Also  tagging .


Also  donor splicing junction  or  donor splicing site .


Also  leptotene stage .


Also  phospholipid bilayer .


Plural  loci .


Denoted in shorthand with the symbol  q .


This  glossary of cellular and molecular biology  is a list of definitions of terms and concepts commonly used in the study of  cell biology ,  molecular biology , and related disciplines, including  molecular genetics ,  biochemistry , and  microbiology . [ 1 ]  It is split across two articles:


Also  meganucleus .


Also  next-generation sequencing (NGS)  and  second-generation sequencing .


Also  short tandem repeat (STR)  or  simple sequence repeat (SSR) .


(pl.)  microtrabeculae


Also  ectosome  and  microparticle .


Also  mispairing .


(pl.)  mitochondria ; also formerly  chondriosome .


Also  M phase .


Also  somatic  crossing over .


Also  phosphorodiamidate Morpholino oligomer .


Also  polylinker .


Also  negative regulation .


Sometimes used interchangeably with  nucleobase  or simply  base .


Also  non-standard amino acid .


Also  point-nonsense mutation .


Also  nonsynonymous substitution  or  replacement mutation .


Also  amine terminus  and  amino terminus .


Also  nuclear localization sequence .


Sometimes used interchangeably with  nitrogenous base  or simply  base .


Also  prokaryon .


Also  karyoplasm .


Also  karyolymph  or  nuclear hyaloplasm .


Also  nucleoside monophosphate (NMP) .


pl.  nuclei


Also abbreviated  oligo .


Also  one gene–one protein  or  one gene–one enzyme .


Also  umber .


Also  replication origin  or simply  origin .


Also  osmotic stress .


Also  Tumor protein P53 (TP53) ,  transformation-related protein 53 (TRP53) , and  cellular tumor antigen p53 .


Also  pachytene stage .


Also  palindrome .


Also  extrinsic membrane protein .


Also  phosphodiester backbone ,  sugar–phosphate backbone , and  phosphate–sugar backbone .


Also  polyribosome  or  ergosome .


Also  map-based cloning .


Also  blast cell .


Also  peptidase .


Also  protein targeting .


Abbreviated in shorthand with the letter  R .


Also  pycnosis  or  karyopyknosis .


Abbreviated in shorthand with the letter  Y .


Also  real-time PCR (rtPCR) .


Also  repetitious DNA .


Also  replication bubble .


Also  Y fork .


Also  restriction endonuclease ,  restriction exonuclease , or  restrictase .


Also  restriction recognition site .


Also  ribonucleoside diphosphate reductase .


Often abbreviated  RNAP  or  RNApol .


Also  synthesis phase  or  synthetic phase .


Also  selfish DNA  or  parasitic DNA .


Denoted in shorthand with the symbol  p .


Also  vegetal cell  or  soma .


Also  intergenic spacer (IGS)  or  non-transcribed spacer (NTS) .


Also  hairpin  or  hairpin loop .


Also  termination codon .


Also  sumoylation .


Also  symplasm ; pl.  syncytia .


Also  synonymous substitution  or  samesense mutation .


Also  Goldberg-Hogness box .


Also  antisense strand ,  negative (-) sense strand , and  noncoding strand .


Also  deoxythymidine .


Also  5-methyluracil .


Also  transcription initiation site .


Formerly referred to as  soluble RNA (sRNA) .


Also  transporter .


Also  transposon .


Also  triacylglycerol  and  triacylglyceride .


Also  tropic movement .


Also  turgidity .


Also  ubiquitylation .


Also  non-repetitive DNA .


Also  promotion .


Denoted in shorthand with a  +  superscript.


Also  zygotene stage .


This is a  list of haplogroups of historic people .  Haplogroups  can be determined from the remains of historical figures, or derived from  genealogical DNA tests  of people who trace their direct maternal or paternal ancestry to a noted historical figure. Some contemporary notable figures have made their test results public in the course of news programs or documentaries about this topic; they may be included in this list too.


MtDNA  results indicate direct maternal descent while  Y-DNA  results indicate direct  paternal descent ; these are only two of many lines of descent. Scientists make inferences of descent as  hypotheses  which could be disproved or modified by future research.


These are results from 'ancient' samples, those collected from the remains or reputed remains of the person. Because mtDNA breaks down more slowly than nuclear DNA, it is often possible to obtain mtDNA results where other testing fails.


Genetic samples from 19 individuals were collected at the necropolis in  Abasár , from the political centre of the  Aba clan . In 2024, archaeogenetic analysis revealed East Eurasian paternal origin to the Aba royal family of Hungary. It revealed that members of the Aba family were related to members of prominent Hungarian medieval noble families, including the Hungarian royal  House of Árpád , the  Báthory  family, and the  Hunyadi  family, as well as to the first-generation immigrant elite of the  Hungarian conquest , all of which had been previously studied through archaeogenetic analysis. In medieval  Hungarian chronicles  both the Aba and the  Árpád dynasty  are identified as descendants of  Attila , King of the  Hunnic empire . Detailed  whole genome sequencing  data revealed the paternal ancestry of the Árpád dynasty originating from East Eurasia, with potential Hun connections. In the archaeogenetic study, the Abas also demonstrated Asian Hun ( Xiongnu ) phylogenetic connections. [ 1 ]


The  Aisin Gioro  clan belongs to  haplogroup C3b1a3a2-F8951 , a brother branch of C3*-Star Cluster (currently named as C3b1a3a1-F3796, once linked to  Genghis Khan ). [ 2 ]


The Institute of Hungarian Research determinated the whole genome data of King  Béla III of Hungary , which was published in 2020, analyzed on 7 July through the royal remains from the  Royal Basilica of Székesfehérvár , along with eight other royal bodies (eight men, two women), [ 3 ] [ 4 ]  and King  Saint Ladislaus of Hungary  which was published in 2023. [ 5 ]  The paternal  Y chromosome  of both member of the  Hungarian royal   Árpád dynasty  belong to the haplogroup R-ARP (R1a1a1b2a2a1c3a3b) which is a sub-haplogroup of the  haplogroup R1a-SUR51  which belongs to the R-Z2123 clade. [ 3 ] [ 5 ]  From this groundbreaking research, researchers discovered a new R-ARP haplogroup specific to the Árpad house. Since then, genealogy and DNA reports have traced modern lineages to northern  Afghanistan ,  Russia ,  Northern Europe ,  Iberia , and  Mexico , [ 6 ]  which include the current chief of the County of Miravalle,  María del Carmen Enríquez de Luna , the current chief of the house of Macias-Valadèz the Spanish-French politician Luis Ruben Jr. (née Valadèz), and also the Secretary of Infrastructure, Communications and Transportation, Gerardo Ruiz de Esparza. [ 7 ] [ 8 ]


Birger Jarl , the founder of  Stockholm , the modern capital of Sweden, belonged to Y  Haplogroup I-M253 , according to Andreas Carlsson at the National Board of Forensic Medicine of Sweden. Birger Magnusson was the ancestor of a line of kings of both Sweden and Norway, starting with his son,  Valdemar, King of Sweden . [ 9 ]


Che Guevara , the Argentine Marxist revolutionary and major figure of the Cuban Revolution, forensic identification of his skeletal remains revealed that he belonged to  haplogroup R1b-L21 . [ 10 ]


A genetic study on the origins of Rurikids (Zhur et al. 2023) analysed "for the first time", remains belonging to Prince  Dmitry of Pereslavl . The study found that Dmitry Alexandrovich and most of the "medieval and modern Rurikids", starting with Prince  Yaroslav the Wise , belong to paternal haplogroup  N-M231 (N1a) . The genetic results suggest that the formation of the Rurikid lineage included a population from eastern  Scandinavia  ( Öland ), a population from  Central Europe  or the  Iron Age  Eurasian Steppe, and an  East Asian  component via Siberian geneflow to Northeastern Europe. [ 11 ]


Noble burials of  Mongols  in the  Yuan dynasty  in Shuzhuanglou Site (northernmost  Hebei , China, 700YBP) were excavated. All three men excavated belong to Y  haplogroup Q , with subclade not analysed.


The most principal occupant, Gaodang King Korguz, had mtDNA of  haplogroup D4m2 . Two others' mtDNA are  A [ 12 ]


Korguz ( Chinese :  高唐王闊裏吉思 ) was the son of a princess of  Kublai Khan  and he was the king of the  Ongud  and a descendant of Gok-Turk. The Ongud claimed descent from the  Shatuo , prominent in the era of the  Five Dynasties and Ten Kingdoms period . His two wives were all princesses of Yuan Dynasty. It was very important for the Yuan dynasty to maintain marriage-alliance with the Onguds, which had been very important assistant since  Genghis Khan . About 16 princesses of Yuan dynasty were married to khans of the Ongud.


The genetic study "Population genomics of the Viking world" was published September 16, 2020 in  Nature , and showed that  Gleb Svyatoslavich  (sample VK542), an 11th century  Rurikid   Prince of Tmutarakan  and  Novgorod  in  Kievan Rus' , was found to belong to  Y-DNA   haplogroup I2a1a2b1a1a (I-Y3120)  and  mtDNA   haplogroup H5a2a . [ 13 ]  In YFull's YTree a more detailed position is given for his Y-DNA under I-Y3120's subclades Y4460 > Y3106 > Y91535. [ 14 ]


Bone samples were collected in the Corvinus grave from the remains of  John Corvinus  and  Christopher Corvinus  in the church of the Blessed Virgin Mary in  Lepoglava  by the Institute of Hungarian Research in 2021 to define their genetic composition. This information will be crucial for possible identification of the remains of King  Matthias Corvinus  from among the bones stored in the ossuary at  Székesfehérvár . The team of Endre Neparáczki successfully identified the DNA profile of the last two male members of the Hunyadi family by next-generation sequencing technology, and the genetic study was published in  Heliyon  in 2022. [ 15 ] [ 16 ] [ 17 ] [ 18 ]


John Corvinus and Christopher Corvinus carried the paternal Y-chromosome haplogroup E1b1b1a1b1a6a1c~ (E-BY4281), which is widespread in Eurasia. This haplogroup belongs to the  E-V13  clade which is part of the  E-M78  branch. The father-son relationship was also verified. The closest ancient genetic matches to the paternal haplogroup of the Hunyadi descendants are a sample from the  Otrar - Karatau  culture in the Iron Age Kazakh steppe and a sample from Medieval  Sardinia . The closest genetic sample matches from the Carpathian Basin to the Hunyadi genome were detected in  Avar  individuals, elite  Hungarian Conquerors  and in a Medieval  Hungarian nobleman  from the Hungarian  Royal Basilica . [ 19 ] [ 17 ]


John Corvinus belongs to the T2b mitochondrial haplogroup, his maternal lineage widespread haplogroup throughout Eurasia. His son Christopher Corvinus belongs to the rare T2c1+146 mitochondrial haplogroup, his maternal lineage was already present in the Neolithic era on the territory of present-day Hungary but most frequent around the  Mediterranean . Both maternal lines are consistent with the known origin of their mothers. [ 19 ] [ 17 ]


Archaeogenomic analysis indicated that John and Christopher Corvinus had an ancient European genome composition. The majority genome components of John Corvinus were present in the  Carpathian Basin  thousands of years ago, the highest shared drift are with European Neolithic samples (which peoples can also be traced back to the Carpathian Basin [ 17 ] ) and Hungarian Neolithic samples:  Transdanubian Lengyel culture ,  Bodrogkeresztúr culture ,  Kőrös culture ,  Alföld Linear Pottery culture . The genome of Christopher Corvinus also has a shared drift with a sample from the Croatian Copper Age  Vučedol culture , which was received from his mother. The Corvinus genome contains these admixture components: 50% Neolithic Anatolian, 31% Ancient North Eurasian, 8% Iranian Neolithic, 5% Western Hunter gatherer, 3% Early Bronze Age and 2% Han. At the individual level, the 10 most similar samples were from  Russia ,  Croatia ,  Romania  and  Hungary , while at the population level, it clustered with populations from northern  Italy ,  Spain ,  Basque Country ,  France ,  Croatia  and  Hungary . The greatest similarity to this medieval Corvinus genome is found with today's southern European and Carpathian Basin populations, and also with individuals from the Eastern European steppe. [ 19 ] [ 17 ]


In 2020, a genetic study showed that the figure of the  French Revolution   Jean-Paul Marat  killed in 1793, had the  haplogroup H2  (mtDNA). [ 20 ]


Luke the Evangelist  is a  Christian  saint and apostle born on 1st century A.D. in  Roman Syria  and died in  Roman Greece . Remains reputed to have been his had  haplogroup H2  (mtDNA). [ 21 ] [ 22 ] [ better source needed ]


Louis XVII  was the younger son of King of  France   Louis XVI  and Queen  Marie Antoinette . His maternal haplogroup is  H . [ 23 ]


German composer  Ludwig van Beethoven  belonged to  haplogroup I-FT396000  and  haplogroup H1b1+16,362C . [ 24 ]


The maternal haplogroup of  Marie Antoinette  is  H . [ 23 ] [ 25 ]


A lock of hair kept at a reliquary at  Saint-Maximin-la-Sainte-Baume  basilica, France, which local tradition holds belonged to the biblical figure  Mary Magdalene , was allegedly assigned to mitochondrial  haplogroup K . Ancient DNA sequencing of a capillary bulb bore the K1a1b1a subclade according to the author Gérard Lucotte, who concluded that she was likely of  Pharisian  maternal origin. [ 26 ]  Gérard Lucotte, [ 27 ] [ circular reference ]  the controversial geneticist in charge of analyzing the hair material, also publicly claimed in France in 2005 to have "discovered" the DNA of  Jesus Christ  from the Argenteuil Tunic relic. [ 28 ]


The mummy " Juanita " of Peru, also called the "Ice Maiden", has been shown to belong to mitochondrial  haplogroup A . [ 29 ] [ 30 ]


The last tsar of Russia,  Nicholas II of Russia , was assigned to mtDNA  haplogroup T , based on mutations 16126C, 16169Y, 16294T, 16296T, 73G, 263G, and 315.1C. His results matched those of a cousin, Prince Nikolai  Trubetskoy , but showed a heteroplasmy – a mix of two different sequences – indicating a recent mutation. To further confirm the identity, the tsar's brother,  Grand Duke George , was exhumed and found to have the same mitochondrial heteroplasmy. [ 31 ] [ 32 ]


Empress  Alexandra of Russia  and her children,  Olga ,  Tatiana ,  Maria ,  Anastasia , and  Alexei  were identified as belonging to mtDNA  haplogroup H  (16111T, 16357C, 263G, 315.1C). This identity was confirmed by match to that of her grand-nephew,  Prince Philip, Duke of Edinburgh . [ 31 ] [ 33 ]


As part of the same analysis, mitochondrial types were determined for four further individuals, thought to have been the Royal Physician and servants.


Nicholas II has been predicted as having a Y-DNA  R1b  haplotype. [ 34 ] [ 35 ]


The remains of the younger of the two women buried with the  Oseberg Ship  were tested and discovered to have mtDNA of  U7 . [ 36 ]


The man known as " Ötzi " – whose remains, dating from the  4th millennium BCE , were found on the modern border between Austria and Italy – is a member of  G-L91 (G2a2b)  and  K-1 .


The purported remains of  Francesco Petrarca , known as Petrarch, were tested for DNA in 2003. [ 37 ]  Another analysis revealed that purported skull of Petrarca belonged to a woman, the DNA from rib belonged to mtDNA  haplogroup J2 . [ 38 ]


Pierre Terrail  (1473 – 30 April 1524), seigneur de Bayard, the legendary medieval French knight "without fear and beyond reproach", is thought to have carried mtDNA  haplogroup H10e . This has been determined by DNA-testing both his exhumed remains and DNA-matching with living relatives on the maternal line. [ 39 ]   Marguerite de Baugé , dame de Mirabel (1200–1252), is an ancestor of Pierre Terrail and the presently oldest known member of H10e with an unbroken genealogical tree on the maternal line up the present. [ 40 ]


In December 2012, a genetic study conducted by the same researchers who decoded King  Tutankhamun 's DNA predicted using an  STR -predictor that  Ramesses III , second pharaoh of the  Twentieth Dynasty of Egypt  and considered to be the last great  New Kingdom  regent to wield any substantial authority over Egypt, belonged to Y-DNA  haplogroup E-M2 , alternatively known as  haplogroup E1b1a . [ 41 ]  Another study established a connection between Ramses III and  Pentawer  through haplogroup E1b1a. [ 42 ]


Richard III's mitochondrial haplotype was inferred from living descendants and then the identity of his remains confirmed through a multidisciplinary process including genetic analysis of both his mitochondrial and Y-DNA. In 2004 British historian John Ashdown-Hill traced a British-born woman living in Canada, Joy Ibsen (née Brown), who is a direct maternal line descendant of  Anne of York, Duchess of Exeter , a sister of  Richard III of England . Joy Ibsen's mtDNA was tested and belongs to mtDNA  haplogroup J1c2c . [ 43 ] [ 44 ]  Joy Ibsen died in 2008. On 4 February 2013, University of Leicester researchers announced that there was an mtDNA match between that of a skeleton exhumed in Leicester suspected of belonging to Richard III and that of Joy Ibsen's son, Michael Ibsen, and a second direct maternal line descendant named Wendy Duldig. [ 45 ] [ 46 ] [ 47 ] [ 48 ]  They share mtDNA haplogroup  J1c2c3 . [ 49 ] [ 50 ] [ 51 ] [ 52 ]  Richard's maternal line descends from the herald and courtier  Paon de Roet , from  Hainaut, Belgium ; a daughter of his, and a great-great-grandaunt of Richard,  Philippa Roet  married the author  Geoffrey Chaucer  and had  Thomas Chaucer  MP.


The Y haplogroup of Richard III, last king of the House of York and last of the  House of Plantagenet , was identified as Y-DNA  G-P287 , in contrast to the Y haplotypes of five of the putative modern relatives, descendants of  Henry Somerset, 5th Duke of Beaufort , of whom four belong to  haplogroup R1b-U152 (x L2, Z36, Z56, M160, M126 and Z192)  and one belongs to  haplogroup I-M170 (x M253, M223) . [ 53 ]


DNA testing on  Spytihněv I, Duke of Bohemia 's remains suggests that his Y-haplogroup was  R1b . [ 17 ]


The  Rurikid  Prince  Sviatopolk I of Kiev  (son of  Vladimir the Great ) belonged to  haplogroup I1-S2077 . [ 54 ] [ 55 ] [ 56 ]


In order to verify whether the body of a woman entombed near  Sweyn II of Denmark  in Roskilde Cathedral is that of his mother Estrid, mtDNA from pulp of teeth from each of the two bodies was extracted and analysed. The king was assigned to mtDNA haplogroup  H  and the woman was assigned to mtDNA  haplogroup H5a . Based on the observation of two  HVR1  sequence differences, it was concluded that it is highly unlikely that the woman was the king's mother. [ 57 ]


There is controversy regarding Tutankhamun's Y-DNA profile. It was not discussed in a 2010 academic study that included  DNA profiling  of some of the male mummies of the  Eighteenth Dynasty of Egypt , and was published in the  Journal of the American Medical Association .


The team that analysed the Eighteenth Dynasty mummies disputed a claim later made by the  personal genomics  company iGENEA regarding Tutankhamun's Y-DNA profile. Staff from iGENEA examined images from news coverage of the above study, that purportedly showed data from Tutankhamun's Y-DNA profile. Based on the unverified images, iGENEA claimed that Tutankhamun belonged to Y-DNA haplogroup  R1b1a2 , [ 58 ] [ 59 ]  a claim that was rejected as "unscientific" by members of the team that had actually analysed the Eighteenth Dynasty mummies. The original researchers also stated they had not been consulted by iGENEA before it published the haplogroup information. However, in a 2020 publication, those same researchers confirmed that the y-haplogroup of Tutankhamun was, indeed, R1b. [ 60 ] [ 61 ]  However, conflicting DNA analysis on the Amarna royal mummies which included Tutankhamun performed by other researchers had found much closer affinities to  Sub-Saharan African  populations. This has led to a lack of consensus on the genetic makeup of the ancient Egyptians and their geographic origins. [ 62 ] [ 63 ]  Nevertheless, it was established a connection between the mummies of  Amenhotep III ,  Akhenaten  and  Tutankhamun  through  Haplogroup R1b . [ 42 ]  The mummy of Tutankhamun had both the Y-haplogroup R1b and the  mtDNA haplogroup K . He inherited this Y-haplogroup from his father, the  KV55  mummy believed by many to be Akhenaten, and his grandfather, Amenhotep III, whose mummy was found entombed at  KV35  with numerous relatives. [ 64 ] [ 65 ]


Yuya  was one of Tutankhamun's maternal great grandfathers. Predicted Y-DNA  haplogroup G2a , based on ancient Y-STR profiles. [ 60 ]  Yuya and his wife  Thuya , an Egyptian noblewoman associated with the royal family, both belonged to the maternal  haplogroup K , as did their descendants Queen  Tiye , Pharaoh  Akhenaten ,  The Younger Lady  (KV35YL) and Pharaoh  Tutankhamun . [ 42 ]  Yuya served as a key adviser for  Amenhotep III , and held posts such as "King’s Lieutenant" and "Master of the Horse"; his title "Father-of-the-god" possibly referred specifically to his being Amenhotep's father-in-law. In his native town of  Akhmin , Yuya was a prophet of  Min , the chief "god" of the area, and served as this deity's "Superintendent of Cattle". [ 66 ]


Because mtDNA is carried through the direct female line, some researchers have identified the haplotype of historic persons by testing descendants in their direct female line. In the case of males, their mother's direct female lineage descendants are tested. Y-DNA testing may be carried out on male relatives.


He was the first Vice President and second President of the U.S. His Y-DNA Haplogroup was  R1b1 [ 67 ]  or, more exactly,  R-M269 . [ 68 ]


He was the sixth President of the U.S. His Y-DNA Haplogroup was R1b1 [ 67 ]  or, more exactly,  R-M269 . [ 68 ]


The Irish King Brian Boru, founder of the  O'Brien Dynasty  is associated with the  Dalcassian  haplogroup  R1B-L226 . [ 69 ]


At least two reported descendants of  William Bradford ,  Mayflower  passenger and leader of the  Plymouth Colony , have tested under  haplogropup I-Z63  to  I-Y21381  > Y21371 > Y21370 > Y21372 > FGC72882. [ 70 ]


Descendants of  William Brewster , an early colonist who emigrated to America on the  Mayflower , tested under  haplogroup I-M253 . [ 70 ]


The male lineage of the medieval  Bure kinship  from Sweden has been identified as Y-DNA  haplogroup G2a , based on several BigY tests carried out in 2014 on people living today. Descendants of two of the sons of Old Olof (who was born about 1380) were identified as G-Y12970*, and descendants of his alleged brother Fale as G-Y16788. The test result supports genealogical information recorded in about 1610 by  Johannes Bureus . The DNA results also disproved a branch that was later added to the family book. [ 71 ]


Chinese warlord  Cao Cao , who was posthumously titled Emperor Wu of the state of  Cao Wei , belonged to Y-DNA Haplotype O2-M268 according to DNA tests of some documented present-day descendants with lineage records. [ 72 ]  Ancient DNA analysis of the tooth of Cao Cao's granduncle, Cao Ding, showed that Cao Cao belonged to Y-DNA  haplogroup O-M175 . [ 73 ]  A followup publication precisely identified the haplogroup more precisely as a subgroup of O-M175, designated O1b1-F1462(xPK4). [ 74 ]


Charles Darwin  belonged to Y  haplogroup R1b  based on a sample from his great-great-grandson. [ 75 ]


Edward IV of England  and his brother  Richard III of England , both sons of  Cecily Neville, Duchess of York , would have shared the same mtDNA haplogroup J1c2c. [ 49 ]


Albert Einstein  is alleged to belong to Y  Haplogroup E . [ 76 ] [ 77 ]  Tested Einsteins from Germany belong to E1b1b1b2* (cluster SNP PF1952, formerly known as the E-Z830-B or "Jewish cluster"). [ 78 ]  A patrilineal descendant of Naphtali Hirsch Einstein (1733–1799), Albert Einstein's great-grandfather, was tested and belonged to  E-M35  (E1b1b1). [ 79 ]


Fath-Ali Shah Qajar  (1772–1834), the second emperor and shah of the  Qajar dynasty  of  Iran  belonged to  Haplogroup J-M267  with DYS388 = 13 as deduced from testing of descendants of several of his sons. [ 80 ]


Doras Folger, one of Benjamin Franklin's mother Abiah Lee Folger's six sisters, passed on her mtDNA to her 9th-great-granddaughter, Charlene Chambers King, indicating that Franklin belonged to  mitochondrial haplogroup V , with the following mutations: T16298C, 315.1C, 309.1C, A263G, and T72C. [ 67 ]


In 2010, journalist Jean-Paul Mulders and historian Marc Vermeeren publicised analysis of samples taken from 39 patrilineal relatives of  Adolf Hitler  which revealed that Hitler belonged to Y-DNA  Haplogroup E (Y-DNA)  (E1b1b) the subclade being undisclosed. [ 81 ] [ 82 ]


Mulders contradicted interpretations of his research by some media outlets, which claimed that Hitler definitively had Jewish ancestry. Mulders commented:


I never wrote that Hitler was a Jew, or that he had a Jewish grandfather. I only wrote that Hitler's haplogroup is E1b1b. All the rest are speculations of journalists who didn't even take the trouble to read my article, although I had it translated into English especially for this purpose. [ 83 ]


The accuracy of some of the coverage arising from this study was questioned. Professor Michael Hammer of Family Tree DNA said that "scientific studies as well as records from our own database[,] make it clear that one cannot reach the kind of conclusion featured in the published articles." Citing Family Tree DNA's own data that shows that no more than 9% of the German and Austrian population have the Haplogroups E1b1b, and that about 80% of these are not Jewish, Hammer concluded, "[t]his data clearly shows that just because one person belongs to the branch of the Y-chromosome referred to as haplogroup E1b1b, that does not mean the person is likely to be of Jewish ancestry." [ 83 ]


In 2019,  Leonard Sax  published an article titled "Aus den Gemeinden von Burgenland: Revisiting the question of Adolf Hitler’s paternal grandfather". In this article, Sax states that the methods by which the DNA samples were taken from Hitler's relatives in this study would be disqualified from a reputable journal. Sax commented:


Such methods – obtaining material without the consent of the donor – would generally disqualify
the study from publication in a reputable journal. [ 84 ]


Several scientists have created their own theories about the  Y-chromosomal haplogroup  (and therefore the  patrilineal  ancestry) of Genghis Khan. The proposed candidates include  haplogroup C3 ,  haplogroup Q ,  haplogroup R1b ,  haplogroup C2 , [ 85 ]  and  haplogroup O . [ 86 ]


Y chromosome haplogroup C2c1a1a1-M407 is carried by Mongol descendants of the  Northern Yuan  ruler from 1474–1517,  Dayan Khan , who is a male line descendant of Genghis Khan which was found out after geneticists in Mongolia conducted tests on them. This is a different haplogroup from the infamous widespread C2b1a3a1c2-F5481 clade of C2*-ST which is widespread in Central Asia among Kazakhs, Hazaras and ordinary commoner Mongols since Kazakhs and Hazaras were descended from ordinary Mongol soldiers during the Mongol empire conquests but not from Genghis himself. [ 87 ]  The Kerey clan of the Kazakhs have a high amount of the C3* star-cluster (C2*-ST) Y chromosome and is very high among Hazaras, Kazakhs and Mongols in general. [ 88 ]


Toghan, Genghis Khan's sixth son has claimed descendants who have Y haplogroup C2b1a1b1-F1756 just like the first son of Genghis Khan,  Jochi 's descendants in the Kazakh  Tore  clan. [ 85 ]


Numerous studies by teams of biochemists led by M. V. Derenko (2007), based on the Y-DNA of people who claim to be modern descendants of Genghis Khan, have indicated that Genghis Khan may have belonged to a subclade of  Haplogroup C-M217  (C2) such as C-F4002 (C2b1a3). [ 89 ]


However, research published in 2016 analyzed DNA from a  Borjigin  burial site in Mongolia, and suggested that Genghis Khan may have belonged to the West Eurasian haplogroup  R-M343  (R1b) instead of haplogroup C. The remains of the burials were described as having an East Asian appearance, which the authors attributed to their East Eurasian  mitochondrial DNA haplogroups . [ 90 ]


A 2019 study proposed that the Y lineage of  Jochi  (Genghis Khan's eldest son) may have been  haplogroup C2b1a1b1 (C2) , which they identify as a new potential candidate for Genghis Khan's true Y-DNA lineage. [ 85 ]


Gia Long , who was the first emperor of the  Nguyễn dynasty  of Vietnam founded by the Nguyễn-Phuoc family may have belonged to Y-DNA haplogroup O-M95 according to the DNA tests of one documented descendant (if paternity matches genealogy). [ 91 ]  Given the sample size, however, this result cannot be regarded as conclusive and further testing of other documented descendants is necessary to help confirm or refute this finding.


He is one of the  Founding Fathers of the United States . His Y-DNA Haplogroup was  I1a . [ 67 ] [ 92 ] [ 93 ]


Direct male-line descendants of a cousin of United States president  Thomas Jefferson  were  genotyped  to investigate historical assertions that Jefferson fathered children with his slave  Sally Hemings . [ 94 ]


An extended 17-marker haplotype was published in 2007, [ 95 ]  and the company  Family Tree DNA  has also published results for other markers in its standard first 12-marker panel. [ 96 ]  Combining these sources gives the consolidated 21-marker haplotype below. The Jeffersons belong to  Haplogroup T  (M184) (formerly known as K2).


Lincoln  was the sixteenth President of the U.S.A. His mtDNA Haplogroup was  X1c . [ 97 ]


Analysis of a handkerchief with blood traces said to have been obtained at the execution of  Louis XVI of France , suggested that he may have belonged to Y-DNA  haplogroup G-M201 . However, testing on some of his supposed relatives show he might have belonged to  haplogroup R-U106  (a subclade of R1b). [ 98 ]  The  House of Bourbon , which has ruled as kings in France, Spain, and other European countries, have the  R1b1b haplogroup . [ 99 ]


Tested relatives of Protestant reformer  Martin Luther  belonged to  Haplogroup I2a -Din-N (L147.2+). [ 100 ]


Analysis of two beard hairs revealed that  Napoleon Bonaparte  belonged to Y haplogroup  E1b1b1c1* (E-M34*) . [ 101 ] [ 102 ]


A study conducted at Trinity College, Dublin, [ 103 ]  found that a striking percentage of men in Ireland (and quite a few in Scotland) share the same Y chromosome. [ 104 ]  Niall established a royal dynasty which dominated the island for six centuries. Niall belongs to  Haplogroup R1b1c7  (M222). [ citation needed ]  Dr. Moore's results examined some different parts of DNA (loci) from the result given here. More recently, however, it has been determined that the emergence of R-M222 predates Niall and may be more than 2,000 years old. Therefore, not all men who belong to this haplogroup are descendants of Niall. A history of the lineage of Irish kings that was compiled by Irish monks, known as "the Annals of the Four Masters" lists "Conn of the Hundred Battles" among the ancestors of Niall. So, it may be that the haplogroup previously attributed to Niall is actually attributable to  Conn of the Hundred Battles .


Y Haplogroup C3b2b1* (C-M401*, (xF5483)  has been identified as a possible marker of the Aisin Gioro (who were founders of the  Qing dynasty ) and is found in ten different ethnic minorities in northern China, but relatively rare in Han Chinese. [ 105 ] [ 106 ]


Men of the Jewish  Rothschild family , who established an international banking business, acquired the largest fortune in modern world history and established a true dynasty in the 19th century, apparently belong to  haplogroup J2a1-L210 . [ 107 ] [ 108 ]


Haplogroup J2  is commonly found within  Asia Minor ,  Persia ,  Central Asia  and the  Caucasus Mountains  and is frequent in modern and historical inhabitants of the  Levant  and  Fertile Crescent  especially among  Jews  and in  Lebanon .  Subclade J2a  is very common amongst  Ingush , and has been found in  West Eurasian  corpses discovered in the  Altai Mountains . [ 109 ] [ 110 ] [ 111 ]


Asano Sōichirō  ( 浅野 総一郎 , April 13, 1848 – November 9, 1930)  's Y-DNA is  D1a2a1a2b1a1a8a  (D-CTS4093). [ 112 ]  He was a Japanese businessman responsible for founding a number of companies, including what became today's  Sapporo Breweries , [ 113 ]   Toa Construction Corporation , [ 114 ]   Oki Electric Industry , [ 115 ]   JFE Group [ 116 ]  and  Taiheiyo Cement  (formerly  Asano Cement ). [ 117 ]


In 2003 Oxford University researchers traced the Y-chromosome signature of Somerled of Argyll, one of  Scotland 's greatest warriors, who is credited with driving out the  Vikings . He was also paternal grandfather of the founder of  Clan Donald . Through clan genealogies, the genetic relation was mapped out. [ 118 ]  Somerled belongs to  haplogroup R1a1 .


In 2005 a study by Professor of Human Genetics  Bryan Sykes  of  Oxford University  led to the conclusion that Somerled has possibly 500,000 living descendants. [ 119 ]  Sykes deduced that despite Somerled's reputation for having driven out the Vikings from Scotland, Somerled's own Y-DNA closely matched that of the Vikings he fought.


In 2024 a study by Peter Biggins, Administer of the Clan Colla Project at Family Tree DNA, points out that the chiefs of Clan Donald who have Viking DNA are descended Angus Og. Descendants of his older brother Alasdair Og, a descendant of Somerled, have the Celtic DNA of The Three Collas, which is R-Z3008. [ 120 ]


Joseph Stalin , from genetic testing of his grandson (his son Vasily's son; Alexander Burdonsky) belongs to  haplogroup G2a1a1 . [ 121 ]


Emanuel Swedenborg  (1688–1772), the 18th century scientist and mystic from Sweden likely belonged to the haplogroup I1-BY229, [ 122 ]  a haplogroup with a common ancestor about 1500 years ago who lived somewhere in central Scandinavia. [ 123 ]


The testing of relatives of Serb scientist and inventor  Nikola Tesla  (1856-1943), published on the Serbian DNA Project at Poreklo, showed that his Y-DNA line was R1a-M458 (L1029 subclade).


According to  FamilyTreeDNA , the  Turco-Mongol  founder of the  Timurid Empire   Amir Timur's  Haplogroup was  J-M172 . But Timur's uncle  Haji Barlas  has  R-M512 . [ 124 ] [ 125 ]


Queen Victoria  belonged to  mtDNA Haplogroup H  (16111T, 16357C, 263G, 315.1C).  Empress Alexandra of Russia 's identity was confirmed by matching her mtDNA with that of her grand-nephew,  Prince Philip, Duke of Edinburgh . [ 31 ]  Their common maternal ancestor,  Princess Alice of the United Kingdom , and her mother,  Queen Victoria , must therefore have shared this haplotype. Genealogies show that  Charles II of England  had the same matrilineal ancestress as Queen Victoria, namely  Anne of Bohemia and Hungary .  Catherine the Great  is 11-knee relation of Queen Victoria on this lineage.


Lists of human genes are as follows:


Human chromosomes , each of which contains an incomplete list of genes located on that chromosome, are as follows:


The lists below constitute a complete list of all known human  protein-coding genes :


1639 genes which encode proteins that are known or expected to function as human  transcription factors :


There are many  human leukocyte antigen  (HLA) alleles associated with conditions of or affecting the human integumentary system


In  human genetics , a  human mitochondrial DNA haplogroup  is a  haplogroup  defined by differences in  human mitochondrial DNA .  Haplogroups are used to represent the major branch points on the mitochondrial phylogenetic tree. Understanding the evolutionary path of the female lineage has helped population geneticists trace the  matrilineal  inheritance of modern humans back to human origins in  Africa  and the subsequent spread around the globe.


The letter names of the haplogroups (not just mitochondrial DNA haplogroups) run from A to Z. As haplogroups were named in the order of their discovery, the alphabetical ordering does not have any meaning in terms of actual genetic relationships.


The hypothetical woman at the root of all these groups (meaning just the mitochondrial DNA haplogroups) is the  matrilineal   most recent common ancestor (MRCA)  for  all currently living   humans . She is commonly called  Mitochondrial Eve .


The rate at which mitochondrial DNA mutates is known as the  mitochondrial molecular clock . It is an area of ongoing research with one study reporting one mutation per 8000 years. [ 2 ]


This phylogenetic tree is based Van Oven (2009). [ 4 ]  In June 2022, an alternative phylogeny for haplogroup L was suggested [ 5 ]


Macro-haplogroup L  is the most basal of human mtDNA haplogroups, from which all other haplogroups descend (specifically, from haplogroup L3). It is found mostly in Africa.


Macro-haplogroup M is found mostly in Asia and the Americas. Its descendants are  haplogroup M ,  haplogroup C ,  haplogroup Z ,  haplogroup D ,  haplogroup E ,  haplogroup G  and  haplogroup Q .


Macro-haplogroup N is found mostly in Australia, the Americas and parts of Asia. Its descendants are  haplogroup N ,  haplogroup O ,  haplogroup A ,  haplogroup S ,  haplogroup I ,  haplogroup W ,  haplogroup X  and  haplogroup Y , as well as macro-haplogroup R.


Macro-haplogroup R is found mostly in Europe, Northern Africa, the Pacific and parts of Asia and the Americas. Its descendants are  haplogroup R ,  haplogroup B ,  haplogroup F ,  haplogroup H ,  haplogroup V ,  haplogroup J ,  haplogroup T ,  haplogroup U  and  haplogroup K


A 2004 paper suggested that the haplogroups most common in modern West Asian, North African and European populations were:
H, J, K, N1, T, U4, U5, V, X and W. [ 7 ]


African haplogroups:  L0, L1, L2, L3, L4, L5, L6, T, U5a


Australian haplogroups: M42a, M42c, M14, M15, Q, S, O, N, P. (Refs 1, 2, 3, 4, 5, 6)


Asian haplogroups: F, C, W, M, D, N, K, U, T, A, B, C, Z, U many number variants to each section


Phylogenetic tree of  human mitochondrial DNA (mtDNA) haplogroups


In  human genetics , a  human Y-chromosome DNA haplogroup  is a  haplogroup  defined by specific  mutations  in the non- recombining  portions of  DNA  on the male-specific  Y chromosome  (Y-DNA). Individuals within a haplogroup share similar numbers of  short tandem repeats  (STRs) and  single-nucleotide polymorphisms  (SNPs). [ 2 ]  The Y-chromosome accumulates approximately two mutations per generation, [ 3 ]  and Y-DNA haplogroups represent significant branches of the Y-chromosome  phylogenetic tree , each characterized by hundreds or even thousands of unique mutations.


The Y-chromosomal most recent common ancestor (Y-MRCA), often referred to as  Y-chromosomal Adam , is the  most recent common ancestor  from whom all currently living humans are descended  patrilineally . Y-chromosomal Adam is estimated to have lived around 236,000 years ago in Africa [ citation needed ] . By examining other  population bottlenecks , most  Eurasian  men trace their descent from a man who lived in Africa approximately 69,000 years ago ( Haplogroup CT ). Although Southeast Asia has been proposed as the origin for all non-African human Y chromosomes, [ 4 ]  this hypothesis is considered unlikely. [ 5 ]  Other bottlenecks occurred roughly 50,000 and 5,000 years ago, and the majority of Eurasian men are believed to be descended from four ancestors who lived 50,000 years ago, all of whom were descendants of an African lineage (Haplogroup E-M168). [ 6 ] [ 7 ] [ 8 ]


Y-DNA haplogroups are defined by the presence of a series of Y-DNA  single-nucleotide polymorphisms   genetic markers .  Subclades  are defined by a  terminal SNP , the SNP furthest down in the Y-chromosome phylogenetic tree. [ 9 ] [ 10 ]  The  Y Chromosome Consortium  (YCC) developed a system of naming major Y-DNA haplogroups with the capital letters A through T, with further subclades named using numbers and lower case letters (YCC longhand  nomenclature ). YCC shorthand nomenclature names Y-DNA haplogroups and their subclades with the first letter of the major Y-DNA haplogroup followed by a dash and the name of the defining terminal SNP. [ 11 ]


Y-DNA haplogroup nomenclature is changing over time to accommodate the increasing number of SNPs being discovered and tested, and the resulting expansion of the Y-chromosome phylogenetic tree. This change in nomenclature has resulted in inconsistent nomenclature being used in different sources. [ 2 ]  This inconsistency, and increasingly cumbersome longhand nomenclature, has prompted a move toward using the simpler shorthand nomenclature. [ 12 ]


Y-chromosomal Adam


Haplogroup A


Haplogroup B


Haplogroup D


Haplogroup E


Haplogroup C


Haplogroup G


Haplogroup H


Haplogroup I


Haplogroup J


Haplogroup L


Haplogroup T


Haplogroup N


Haplogroup O


Haplogroup S


Haplogroup M


Haplogroup Q


Haplogroup R


Haplogroup A is the NRY ( non-recombining Y ) macrohaplogroup from which all modern paternal haplogroups descend. It is sparsely distributed in Africa, being concentrated among  Khoisan  populations in the southwest and  Nilotic  populations toward the northeast in the Nile Valley. BT is a subclade of haplogroup A, more precisely of the A1b clade (A2-T in Cruciani et al. 2011), as follows:


The defining mutations separating CT (all haplogroups except for A and B) are M168 and M294. The site of origin is likely in Africa. Its age has been estimated at approximately 88,000 years old, [ 14 ] [ 15 ]  and more recently at around 100,000 [ 16 ]  or 101,000 years old. [ 17 ]


The groups descending from haplogroup F are found in some 90% of the world's population, but almost exclusively outside of sub-Saharan Africa.


F xG,H,I,J,K is rare in modern populations and peaks in  South Asia , especially  Sri Lanka . [ 13 ]  It also appears to have long been present in  South East Asia ; it has been reported at rates of 4–5% in  Sulawesi  and  Lembata . One study, which did not comprehensively screen for other subclades of F-M89 (including some subclades of GHIJK), found that Indonesian men with the  SNP  P14/PF2704 (which is equivalent to M89), comprise 1.8% of men in  West Timor , 1.5% of  Flores  5.4% of  Lembata  2.3% of  Sulawesi  and 0.2% in  Sumatra . [ 18 ] [ 19 ]  F* (F xF1,F2,F3) has been reported among 10% of males in Sri Lanka and  South India , 5% in Pakistan, as well as lower levels among the  Tamang people  (Nepal), and in  Iran . F1 (P91), F2 (M427) and F3 (M481; previously F5) are all highly rare and virtually exclusive to regions/ethnic minorities in Sri Lanka, India, Nepal,  South China ,  Thailand ,  Burma , and  Vietnam . In such cases, however, the possibility of misidentification is considered to be relatively high and some may belong to misidentified subclades of  Haplogroup GHIJK . [ 20 ]


Haplogroup G  (M201) originated some 48,000 years ago and its most recent common ancestor likely lived 26,000 years ago in the Middle East. It spread to Europe with the  Neolithic Revolution .


It is found in many ethnic groups in Eurasia; most common in the  Caucasus ,  Iran ,  Anatolia  and the  Levant . Found in almost all European countries, but most common in  Gagauzia , southeastern  Romania ,  Greece ,  Italy ,  Spain ,  Portugal ,  Tyrol , and  Bohemia  with highest concentrations on some  Mediterranean  islands; uncommon in  Northern Europe . [ 21 ] [ 22 ]


G-M201 is also found in small numbers in northwestern  China  and  India ,  Bangladesh ,  Pakistan ,  Sri Lanka ,  Malaysia , and  North Africa .


Haplogroup H (M69) probably emerged in  Southern Central Asia ,  South Asia  or  West Asia , about 48,000 years BP, and remains largely prevalent there in the forms of H1 (M69) and H3 (Z5857). Its sub-clades are also found in lower frequencies in Iran, Central Asia, across the middle-east, and the Arabian peninsula.


However, H2 (P96) is present in Europe since the Neolithic and H1a1 (M82) spread westward in the  Medieval era  with the migration of the  Roma people .


Haplogroup I  (M170, M258) is found mainly in  Europe  and the  Caucasus .


Haplogroup J  (M304, S6, S34, S35) is found mainly in the  Middle East ,  Caucasus  and  South-East Europe .


Haplogroup K  (M9) is spread all over  Eurasia ,  Oceania  and among  Native Americans .


K(xLT,K2a,K2b) – that is, K*, K2c, K2d or K2e – is found mainly in  Melanesia ,  Aboriginal Australians ,  India ,  Polynesia  and  Island South East Asia .


Haplogroup L  (M20) is found in South Asia, Central Asia, South-West Asia, and the Mediterranean.


Haplogroup T  (M184, M70, M193, M272) is found at high levels in the  Horn of Africa  (mainly  Cushitic -speaking peoples), parts of  South Asia , the  Middle East , and the  Mediterranean . T-M184 is also found in significant minorities of  Sciaccensi ,  Stilfser ,  Egyptians ,  Omanis ,  Sephardi Jews , [ 23 ]   Ibizans  (Eivissencs), and  Toubou . It is also found at low frequencies in other parts of the  Mediterranean  and  South Asia .


The only living males reported to carry the basal  paragroup  K2* are  indigenous Australians . Major studies published in 2014 and 2015 suggest that up to 27% of  Aboriginal Australian  males carry K2*, while others carry a subclade of K2.


Haplogroup N  (M231) is found in northern Eurasia, especially among speakers of the  Uralic languages .


Haplogroup N possibly originated in eastern Asia and spread both northward and westward into  Siberia , being the most common group found in some  Uralic-speaking peoples .


Haplogroup O  (M175) is found with its highest frequency in  East Asia  and  Southeast Asia , with lower frequencies in the  South Pacific ,  Central Asia ,  South Asia , and islands in the  Indian Ocean  ( e.g.  Madagascar, the Comoros).


No examples of the basal  paragroup  K2b1* have been identified. Males carrying  subclades  of K2b1 are found primarily among  Papuan peoples ,  Micronesian peoples ,  indigenous Australians , and  Polynesians .


Its primary subclades are two major haplogroups:


Haplogroup P  (P295) has two primary branches:  P1  (P-M45) and the extremely rare  P2  (P-B253). [ 24 ]


P*, P1* and P2 are found together only on the island of  Luzon  in the  Philippines . [ 24 ]  In particular, P* and P1* are found at significant rates among members of the  Aeta  (or Agta) people of Luzon. [ 25 ]  While, P1* is now more common among living individuals in  Eastern Siberia  and  Central Asia , it is also found at low levels in mainland  South East Asia  and  South Asia . Considered together, these distributions tend to suggest that P* emerged from K2b in South East Asia. [ 25 ] [ 26 ]


P1 is also the parent node of two primary clades:


Haplogroup Q (MEH2, M242, P36)  found in  Siberia  and the  Americas
Haplogroup R (M207, M306):  found in  Europe ,  West Asia ,  Central Asia , and  South Asia


Q  is defined by the SNP M242. It is believed to have arisen in  Central Asia  approximately 32,000 years ago. [ 27 ] [ 28 ]  The subclades of Haplogroup Q with their defining mutation(s), according to the 2008  ISOGG  tree [ 29 ]  are provided below. ss4 bp, rs41352448, is not represented in the ISOGG 2008 tree because it is a value for an STR. This low frequency value has been found as a novel Q lineage (Q5) in Indian populations [ 30 ]


The 2008 ISOGG tree


Haplogroup R is defined by the SNP M207. The bulk of  Haplogroup R  is represented in the descendant subclade  R1  (M173), which originated in  Siberia . R1 has two descendant subclades:  R1a  and  R1b .


R1a is associated with the  proto-Indo-Iranian  and  Balto-Slavic  peoples, and is now found predominantly in  Central Asia ,  South Asia , and  Eastern Europe .


Haplogroup R1b  is the dominant haplogroup of Western Europe and is also found sparsely distributed among various peoples of  Asia  and  Africa . Its subclade R1b1a2 (M269) is the haplogroup that is most commonly found among modern Western European populations, and has been associated with the  Italo-Celtic  and  Germanic  peoples.


The following is a partial list of the "C" codes for  Medical Subject Headings  (MeSH), as defined by the  United States National Library of Medicine  (NLM).


This list continues the information at  List of MeSH codes (C15) . Codes following these are found at  List of MeSH codes (C17) . For other MeSH codes, see  List of MeSH codes .


The source for this content is the set of  2006 MeSH Trees  from the NLM.


The list continues at  List of MeSH codes (C17) .


The following is a partial list of the "D" codes for  Medical Subject Headings  (MeSH), as defined by the  United States National Library of Medicine  (NLM).


This list continues the information at  List of MeSH codes (D12.776) . Codes following these are found at  List of MeSH codes (D20) . For other MeSH codes, see  List of MeSH codes .


The list continues at  List of MeSH codes (D20) .


The following is a partial list of the "G" codes for  Medical Subject Headings  (MeSH), as defined by the  United States National Library of Medicine  (NLM).


This list continues the information at  List of MeSH codes (G04) . Codes following these are found at  List of MeSH codes (G06) . For other MeSH codes, see  List of MeSH codes .


The list continues at  List of MeSH codes (G06) .


This list continues the information at  List of MeSH codes (G13) . Codes following these are found at  List of MeSH codes (H01) . For other MeSH codes, see  List of MeSH codes .


The list continues at  List of MeSH codes (H01) .


A number of gene mutations have been linked to conditions of or affecting the human integumentary system.


Databases for oncogenomic research  are  biological databases  dedicated to  cancer  data and  oncogenomic research . They can be a primary source of cancer data, offer a certain level of analysis (processed data) or even offer online  data mining .


The table below gives an overview of databases for that serve specifically for oncogenomic research. Note that this is not a comprehensive list and does not contain databases that have a generic focus. You may find databases containing cancer data among the  List of biological databases  or  Microarray databases .


This is a list of disorder codes in the  Online Mendelian Inheritance in Man  (OMIM) database. These are diseases that can be inherited via a  Mendelian  genetic mechanism. OMIM is one of the databases housed in the U.S.  National Center for Biotechnology Information .


This is a list of computer  software  which is made for  bioinformatics  and released under  open-source software  licenses with articles in Wikipedia.


This is a  list of organizations involved in genetics research .


Research Centre for Medical Genetics (RCMG) ,  Moscow


This is a  list of  population genetics  projects .


This is a list of  software  tools and  web portals  used for  gene prediction .


Metagenomes


This is a list of human  pseudogenes  that are known to be disabled genes.


Dubious pseudogenes:


Resurrected pseudogenes:


R1a1a *


Haplogroup R1a  is one of the major classifications (called  clades ) of  Y-chromosome  types found in human  male lines . It is widespread all across  Eurasia . Many sample studies therefore carry information on the incidence of R1a and/or its subclassifications, in particular the dominant branching line represented by the haplogroups R1a1 and R1a1a.


The table below collates information from a number of such sample studies, with incidence frequencies in sample data reported as percentages, along with the associated sample sizes.


This is a list of genes, proteins or receptors named  A1  or  Alpha-1  :


This is a  list of  cis -regulatory RNAs . These are  RNA  motifs which regulate  nucleic acid  regions on the same molecule, as opposed to  trans -acting motifs which regulate a distal molecule. Some of these RNAs are broadly distributed while others are single RNA families.


Ribonucleic acid  (RNA) occurs in different forms within organisms and serves many different roles. Listed here are the types of RNA, grouped by role. Abbreviations for the different types of RNA are listed and explained.


For related information, see the articles on  History of RNA Biology ,  History of Molecular Biology , and  History of Genetics .


RNA-Seq [ 1 ] [ 2 ] [ 3 ]  is a technique [ 4 ]  that allows  transcriptome  studies (see also  Transcriptomics technologies ) based on  next-generation sequencing  technologies. This technique is largely dependent on  bioinformatics  tools developed to support the different steps of the process. Here are listed some of the principal tools commonly employed and links to some important web resources.


Design is a fundamental step of a particular RNA-Seq experiment. Some important questions like sequencing depth/coverage or how many biological or technical replicates must be carefully considered. Design review. [ 5 ]


Quality assessment of raw data [ 6 ]  is the first step of the bioinformatics pipeline of RNA-Seq. Often, is necessary to filter data, removing low quality sequences or bases (trimming), adapters, contaminations, overrepresented sequences or correcting errors to assure a coherent final result.


Improvement of the RNA-Seq quality, correcting the bias is a complex subject. [ 16 ] [ 17 ]  Each RNA-Seq protocol introduces specific type of bias, each step of the process (such as the sequencing technology used) is susceptible to generate some sort of noise or type of error. Furthermore, even the species under investigation and the biological context of the samples are able to influence the results and introduce some kind of bias.
Many sources of bias were already reported – GC content and PCR enrichment, [ 18 ] [ 19 ]  rRNA depletion, [ 20 ]  errors produced during sequencing, [ 21 ]  priming of reverse transcription caused by random hexamers. [ 22 ]


Different tools were developed to attempt to solve each of the detected errors.


Recent sequencing technologies normally require DNA samples to be amplified via polymerase chain reaction (PCR). Amplification often generates chimeric elements (specially from ribosomal origin) - sequences formed from two or more original sequences joined.


High-throughput sequencing errors characterization and their eventual correction. [ 30 ]


Further tasks performed before alignment, namely paired-read mergers.


After quality control, the first step of RNA-Seq analysis involves alignment of the sequenced reads to a reference genome (if available) or to a transcriptome database. See also   List of sequence alignment software .


Short aligners are able to align continuous reads (not containing gaps result of splicing) to a genome of reference. Basically, there are two types: 1) based on the  Burrows–Wheeler transform  method such as Bowtie and BWA, and 2) based on Seed-extend methods,  Needleman–Wunsch  or  Smith–Waterman  algorithms. The first group (Bowtie and BWA) is many times faster, however some tools of the second group tend to be more sensitive, generating more correctly aligned reads.


Many reads span exon-exon junctions and can not be aligned directly by Short aligners, thus specific aligners were necessary - Spliced aligners. Some Spliced aligners employ Short aligners to align firstly unspliced/continuous reads (exon-first approach), and after follow a different strategy to align the rest containing spliced regions - normally the reads are split into smaller segments and mapped independently. See also. [ 45 ] [ 46 ]


In this case the detection of splice junctions is based on data available in databases about known junctions. This type of tools cannot identify new splice junctions. Some of this data comes from other expression methods like  expressed sequence tags  (EST).


De novo Splice aligners allow the detection of new Splice junctions without need to previous annotated information (some of these tools present annotation as a suplementar option).


These tools perform normalization and calculate the abundance of each gene expressed in a sample. [ 51 ]  RPKM,  FPKM  and TPMs [ 52 ]  are some of the units employed to quantification of expression.
Some software are also designed to study the variability of genetic expression between samples (differential expression). Quantitative and differential studies are largely determined by the quality of reads alignment and accuracy of isoforms reconstruction. Several studies are available comparing differential expression methods. [ 53 ] [ 54 ] [ 55 ]


Genome arrangements result of diseases like cancer can produce aberrant genetic modifications like fusions or translocations. Identification of these modifications play important role in carcinogenesis studies. [ 85 ]


Single cell sequencing . The traditional RNA-Seq methodology is commonly known as "bulk RNA-Seq", in this case RNA is extracted from a group of cells or tissues, not from the individual cell like it happens in single cell methods. Some tools available to bulk RNA-Seq are also applied to single cell analysis, however to face the specificity of this technique new algorithms were developed.


These Simulators generate  in silico  reads and are useful tools to compare and test the efficiency of algorithms developed to handle RNA-Seq data. Moreover,  some of them make possible to analyse and model RNA-Seq protocols.


The  transcriptome  is the total population of RNAs expressed in one cell or group of cells, including non-coding and protein-coding RNAs.
There are two types of approaches to assemble transcriptomes. Genome-guided methods use a reference  genome  (if possible a finished and high quality genome) as a template to align and assembling reads into transcripts. Genome-independent methods does not require a reference genome and are normally used when a genome is not available. In this case reads are assembled directly in transcripts.


This  list of RNA structure prediction software  is a compilation of software tools and web portals used for  RNA structure  prediction.


[ 17 ] [ 21 ] [ 22 ] [ 23 ] [ 24 ]


[ 27 ] [ 28 ]


webserver


The single sequence methods mentioned above have a difficult job detecting a small sample of reasonable secondary structures from a large space of possible structures. A good way to reduce the size of the space is to use evolutionary approaches. Structures that have been conserved by evolution are far more likely to be the functional form. The methods below use this approach.


(Year)


Many  ncRNAs  function by binding to other  RNAs . For example,  miRNAs  regulate protein coding gene expression by binding to  3' UTRs ,  small nucleolar RNAs  guide post-transcriptional modifications by binding to  rRNA ,  U4 spliceosomal RNA  and  U6 spliceosomal RNA  bind to each other forming part of the  spliceosome  and many small bacterial RNAs regulate gene expression by antisense interactions E.g.  GcvB ,  OxyS  and  RyhB .


The below table includes interactions that are not limited to UTRs.


MicroRNAs  regulate protein coding gene expression by binding to  3' UTRs , there are tools specifically designed for predicting these interactions. For an evaluation of target prediction methods on high-throughput experimental data see (Baek  et al. , Nature 2008), [ 125 ]  (Alexiou  et al. , Bioinformatics 2009), [ 126 ]  or (Ritchie et al., Nature Methods 2009) [ 127 ]


sourcecode


The  RNA Tie Club  was an informal scientific club, meant partly to be humorous, [ 1 ]  of select scientists who were interested in how  proteins were synthesised  from genes, specifically the  genetic code . [ 2 ]  It was created by  George Gamow  upon a suggestion by  James Watson  in 1954 [ 2 ]  when the relationship between nucleic acids and amino acids in  genetic information  was unknown. The club consisted of 20 full members, each representing an amino acid, and four honorary members, representing the four  nucleotides . The function of the club members was to think up possible solutions and share with the other members.


The first important document of the RNA Tie Club was  Francis Crick 's  adaptor hypothesis  in 1955. Experimental work on the hypothesis led to the discovery of  transfer RNA , a molecule that carries the key to genetic code. Most of the theoretical groundwork and preliminary experiments on the genetic code were done by the club members within a decade. However, the specific code was discovered by  Marshall Nirenberg , a non-member, who received  Nobel Prize in Physiology or Medicine  in 1968 for the discovery.


In 1953, English biophysicist  Francis Crick  and American biologist  James Watson , working together at the  Cavendish Laboratory  of the University of Cambridge, deduced the  structure of DNA , the principal genetic material of organisms, [ 3 ]  thought to link genetic information in DNA to proteins. [ 4 ]  By 1954, it was becoming understood that the genetic information pathway involved  DNA , RNA and proteins. However, the structure and nature of RNA were still a mystery (specific RNA molecules were not known until 1960 [ 5 ] ), especially how RNA is involved in protein synthesis. [ 6 ]  Watson called this problem "the mystery of life" in his letter to Crick. [ 5 ]


Soviet-American physicist  George Gamow  at  George Washington University  suggested the first scheme for protein synthesis from DNA. [ 7 ] [ 8 ]  In early 1954, he spent several days at  Woods Hole  on  Cape Cod  with Crick, Watson and  Sydney Brenner , discussing genetics. [ 2 ]  Based on the  Watson-Crick model , he proposed a "direct DNA template hypothesis" stating that proteins are synthesised directly from the double-stranded grooves of DNA. [ 9 ]  The four  bases  of DNA were assumed to synthesise 20 different amino acids as triplets with overlapping nucleotide sequences. [ 10 ]  He published the hypothesis in the 13 February 1954 issue of  Nature , explaining:


It seems to me that such translation procedure can be easily established by considering the ' key-and-lock ' relation between various amino-acids, and the rhomb-shaped 'holes' formed by various nucleotides in the deoxyribonucleic acid chain... One can speculate that free amino-acids from the surrounding medium get caught into the 'holes' of deoxyribonucleic acid molecules, and thus unite into the corresponding peptide chains. [ 11 ]


In May 1954, Watson visited Gamow, who was on sabbatical at the  University of California, Berkeley . While discussing Gamow's hypothesis, he suggested that they form a 20-member club to work out the genetic code. [ 2 ]  Gamow instantly came up with the RNA Tie Club to "solve the riddle of the RNA structure and to understand how it built proteins", adding the motto "do or die; or don't try." [ 12 ]


The club thus consisted of 20 eminent scientists, each of whom corresponded to an amino acid, plus four honorary members (S. Brenner, VAL. F. Lipmann,  A. Szent-Gyorgyi , and another individual), one for each  nucleotide . [ 12 ]


Each member received a woolen necktie having an embroidered helix, hence the name "RNA Tie Club". [ 12 ]


Members of the RNA Tie Club received a black wool-knit tie with a green and yellow RNA helix emblazoned on it. The original design of the tie came from Orgel, with the final pattern re-imagined by Gamow. [ 12 ]  Gamow's tie pattern was delivered to a Los Angeles haberdasher on Colorado Avenue by Watson, with the shop tailor promising to make the ties for $4 each. [ 13 ]
Along with each tie, members of the club were to receive a golden tiepin with the three letter abbreviation of their club amino acid designation. Not all members may have received their pin. Gamow, however, wore his pin on several occasions, often causing confusion and questioning of why he was wearing the "wrong initials". [ 13 ]


The RNA Tie Club never had a formal meeting of all its members. [ 2 ]  Members visited each other to discuss the scientific developments, usually involving cigars and alcohol. This allowed bonding and close friendships to develop among this scientific elite, and it turned out to be a breeding ground for creative ideas. The members mailed letters and preprints of articles to each other suggesting new concepts and ideas. [ 14 ]


Using mathematics, Gamow postulated that a nucleotide code consisting of three letters (triplets) would be enough to define all 20 amino acids. [ 11 ]  This concept is the basis of " codons ", and set an upper and lower limit on their size. Gamow had simply estimated that the number of bases and their complementary pairs in a DNA strand could create 20 cavities for amino acids, meaning that 20 different amino acids could be involved in protein synthesis. [ 15 ]  He named this DNA–protein interaction the "diamond code." [ 16 ]  Although Gamow's premise that DNA directly synthesized proteins was proven wrong, [ 10 ]  the triplet code became the foundation of genetic code. [ 16 ]


Sydney Brenner proposed the concept of the codon, the idea that three non-overlapping nucleotides could code for one amino acid. [ 17 ]  His proof involved statistics and experimental evidence from amino acid protein sequences.


Francis Crick proposed the " adaptor hypothesis " (a name given by Brenner [ 18 ] ) suggesting that some molecule ferried the amino acids around, and put them in the correct order corresponding to the nucleic acid sequence. [ 19 ]  The hypothesis contradicted Gamow's direct DNA template hypothesis, positing that DNA could not synthesise proteins directly, but instead requires other molecules, adaptors to convert the DNA sequences to amino acid sequences. He also suggested that there were such 20 separate adaptor molecules. [ 20 ] [ 21 ]  This was later confirmed by  Robert Holley  and the adaptor molecules were named  transfer RNAs  (tRNAs). [ 22 ]


The typed paper distributed to the members of the RNA Tie Club in January 1955 as "On Degenerate Templates and the Adaptor Hypothesis: A Note for the RNA Tie Club" is described as "one of the most important unpublished articles in the history of science", [ 23 ] [ 24 ]  and "the most famous unpublished paper in the annals of molecular biology." [ 24 ]  Watson recalled, "The most famous of these [unpublished] notes, by Francis, in time would totally change the way we thought about protein synthesis. [ 2 ]


Six members of the RNA Tie Club became Nobel laureates: Richard Feynman, Melvin Calvin, James Watson, Max Delbruck, Francis Crick and Sydney Brenner. However, the ultimate goal of understanding and deciphering the code linking nucleic acids and amino acids was achieved by  Marshall Nirenberg , who was not a member of the RNA Tie Club, [ 25 ]  and received the Nobel Prize in Physiology or Medicine in 1968 with Holley and  Har Gobind Khorana . [ 26 ]


This  list of sequence alignment software  is a compilation of software tools and web portals used in pairwise  sequence alignment  and  multiple sequence alignment . See  structural alignment software  for  structural alignment  of proteins.


* Sequence type:  protein or nucleotide


* Sequence type:  protein or nucleotide ** Alignment type:  local or global


* Sequence type:  protein or nucleotide. ** Alignment type:  local or global


Please see  List of alignment visualization software .


[ 51 ]
 [ 52 ]


The following  X-STR  markers are used in  genealogical DNA testing  and other forms of relationship testing.


The following articles are lists of  human Y-chromosome DNA haplogroups  found in populations around the world.


The various  ethnolinguistic groups  found in the  Caucasus ,  Central Asia ,  Europe , the  Middle East ,  North Africa  and/or  South Asia  demonstrate differing rates of particular  Y-DNA   haplogroups .


In the table below, the first two columns identify  ethnolinguistic groups . Subsequent columns represent the  sample size  ( n ) of the study or studies cited, and the  percentage  of each haplogroup found in that particular sample.


(Data from studies conducted before 2004 may be inaccurate or a broad estimate, due to  obsolete haplogroup naming systems  – e.g. the former  Haplogroup 2  included members of the relatively unrelated haplogroups known later as  Haplogroup G  and  macrohaplogroup IJ  [which comprises haplogroups I and J].)


( Oryol region )


( Voronezh region )


( Tver region )


The  Y-STR  markers in the following list are commonly used in  forensic [ 1 ]  and  genealogical DNA testing .


DYS454  is the least diverse, and multi-copy marker  DYS464  is the most diverse  Y-STR  marker.


The location on the Y-chromosome of numbered Y-STR markers can be roughly given with  cytogenetic localization . For example, DYS449 is located at Yp11.2 - meaning the Y-chromosome, petit arm, band 1, sub-band 1, sub-sub-band 2 - DYS449. [ 2 ]


Forensic  labs usually use PowerPlex Y (Promega Corporation) and Yfiler (Applied Biosystems) kits that examine 12 or 17 Y-STRs, respectively.  Genealogical DNA test  labs examine up to 700 Y-STRs.


Mutation rates are those per generation, as estimated in Chandler (2006). [ 3 ]  The quoted estimated errors are typically +/- 15-20%.  Alternative estimates (for forensic use therefore not all markers are covered) from observed pedigrees are also available at the  Y Chromosome Haplotype Reference Database .


It appears that some trinucleotide markers may have much higher mutation rates at some repeat lengths than at others.  For example, variation of the trinucleotide DYS388 is generally very slow in most haplogroups, when it takes the values 11–13.  But there appears to be much greater variation and more rapid mutation in  Haplogroup J , where it typically has values 14–18.  Similarly the trinucleotide DYS392 is reported to be "fast" in haplogroups  N  and  Q , where it takes values 14-16 which are rare in other groups. [ 4 ]


DYS464X testing [ permanent dead link  ]
 DYS464 discrepancies


DNA testing companies or labs in certain cases use different nomenclatures to designate the same Y-STR allele.  Thus, a conversion must be applied in these cases to accurately compare Y-STR results obtained from different companies. The most common nomenclature is based on guidance provided by  NIST  for Y-STR markers historically reported differently by various companies. The NIST standard is the proposal of  ISOGG  (International Society of Genetic Genealogy) for genetic genealogy companies. [ 6 ] [ 7 ]


Behavioural genetics , also referred to as  behaviour genetics , is a field of  scientific   research  that uses  genetic   methods  to investigate the  nature and origins  of  individual differences  in  behaviour . While the name "behavioural genetics" connotes a focus on genetic influences, the field broadly investigates the extent to which genetic and environmental factors influence individual differences, and the development of  research designs  that can remove the  confounding  of genes and environment. Behavioural genetics was founded as a  scientific discipline  by  Francis Galton  in the late 19th century, only to be discredited through association with  eugenics  movements before and during  World War II . In the latter half of the 20th century, the field saw renewed prominence with research on  inheritance  of behaviour and  mental illness  in humans (typically using  twin and family studies ), as well as research on genetically informative  model organisms  through  selective breeding  and  crosses . In the late 20th and early 21st centuries, technological advances in molecular genetics made it possible to measure and modify the  genome  directly. This led to major advances in model organism research (e.g.,  knockout mice ) and in human studies (e.g.,  genome-wide association studies ), leading to new scientific discoveries.


Findings from behavioural genetic research have broadly impacted modern understanding of the role of genetic and environmental influences on behaviour. These include evidence that nearly all researched behaviours are under a significant degree of genetic influence, and that influence tends to increase as individuals develop into adulthood. Further, most researched human behaviours are influenced by a  very large number of genes  and the  individual effects  of these genes are very small. Environmental influences also play a strong role, but they tend to make family members more different from one another, not more similar.


Selective breeding  and the  domestication  of animals is perhaps the earliest evidence that humans considered the idea that individual differences in behaviour could be due to natural causes. [ 1 ]   Plato  and  Aristotle  each speculated on the basis and mechanisms of  inheritance  of behavioural characteristics. [ 2 ]  Plato, for example, argued in  The Republic  that selective breeding among the citizenry to encourage the development of some traits and discourage others, what today might be called  eugenics , was to be encouraged in the pursuit of an ideal society. [ 2 ] [ 3 ]  Behavioural genetic concepts also existed during the  English Renaissance , where  William Shakespeare  perhaps first coined the phrase " nature versus nurture " in  The Tempest , where he wrote in Act IV, Scene I, that  Caliban  was "A devil, a born devil, on whose nature Nurture can never stick". [ 3 ] [ 4 ]


Modern-day behavioural genetics began with  Sir Francis Galton , a nineteenth-century intellectual and cousin of  Charles Darwin . [ 3 ]  Galton was a  polymath  who studied many subjects, including the  heritability  of human abilities and mental characteristics. One of Galton's investigations involved a large  pedigree  study of social and  intellectual achievement  in the  English   upper class . In 1869, 10 years after Darwin's  On the Origin of Species , Galton published his results in  Hereditary Genius . [ 5 ]  In this work, Galton found that the rate of "eminence" was highest among close relatives of eminent individuals, and decreased as the degree of relationship to eminent individuals decreased. While Galton could not rule out the role of environmental influences on eminence, a fact which he acknowledged, the study served to initiate an important debate about the  relative roles of genes and environment  on behavioural characteristics. Through his work, Galton also "introduced  multivariate analysis  and paved the way towards modern  Bayesian statistics " that are used throughout the sciences—launching what has been dubbed the "Statistical Enlightenment". [ 6 ]


The field of behavioural genetics, as founded by Galton, was ultimately undermined by another of Galton's intellectual contributions, the founding of the  eugenics  movement in 20th century society. [ 3 ]  The primary idea behind  eugenics  was to use selective breeding combined with knowledge about the inheritance of behaviour to improve the human species. [ 3 ]  The  eugenics  movement was subsequently discredited by scientific  corruption and genocidal actions  in  Nazi Germany . Behavioural genetics was thereby discredited through its association to eugenics. [ 3 ]  The field once again gained status as a distinct scientific discipline through the publication of early texts on behavioural genetics, such as  Calvin S. Hall 's 1951 book chapter on behavioural genetics, in which he introduced the term "psychogenetics", [ 7 ]  which enjoyed some limited popularity in the 1960s and 1970s. [ 8 ] [ 9 ]  However, it eventually disappeared from usage in favour of "behaviour genetics".


The start of behaviour genetics as a well-identified field was marked by the publication in 1960 of the book  Behavior Genetics  by  John L. Fuller  and William Robert (Bob) Thompson. [ 1 ] [ 10 ]  It is widely accepted now that many if not most behaviours in animals and humans are under significant genetic influence, although the extent of genetic influence for any particular trait can differ widely. [ 11 ] [ 12 ]  A decade later, in February 1970, the first issue of the journal  Behavior Genetics  was published and in 1972 the  Behavior Genetics Association  was formed with  Theodosius Dobzhansky  elected as the association's first president. The field has since grown and diversified, touching many scientific disciplines. [ 3 ] [ 13 ]


The primary goal of behavioural genetics is to investigate the nature and origins of  individual differences  in behaviour. [ 3 ]  A wide variety of different methodological approaches are used in behavioural genetic research, [ 14 ]  only a few of which are outlined below.


Investigators in animal behaviour genetics can carefully control for environmental factors and can experimentally manipulate genetic variants, allowing for a degree of causal inference that is not available in studies on  human behavioural genetics . [ 15 ]  In animal research  selection experiments  have often been employed. For example, laboratory  house mice  have been bred for  open-field behaviour , [ 16 ]   thermoregulatory   nesting , [ 17 ]  and voluntary  wheel-running  behaviour. [ 18 ]  A range of methods in these designs are covered on those pages.
Behavioural geneticists using  model organisms  employ a range of  molecular  techniques to alter, insert, or delete genes. These techniques include  knockouts ,  floxing ,  gene knockdown , or  genome editing  using methods like  CRISPR -Cas9. [ 19 ]  These techniques allow behavioural geneticists different levels of control in the model organism's genome, to evaluate the molecular,  physiological , or behavioural outcome of genetic changes. [ 20 ]  Animals commonly used as model organisms in behavioural genetics include mice, [ 21 ]   zebra fish , [ 22 ]   Drosophila , [ 23 ]  and the  nematode  species  C. elegans . [ 24 ]


Machine learning and A.I. developments are allowing researchers to design experiments that are able to manage the complexity and large data sets generated, allowing for increasingly complex behavioural experiments. [ 25 ]


Some research designs used in behavioural genetic research are variations on  family designs  (also known as  pedigree  designs), including  twin studies  and  adoption studies . [ 14 ]   Quantitative genetic  modelling of individuals with known genetic relationships (e.g., parent-child, sibling, dizygotic and monozygotic  twins ) allows one to estimate to what extent genes and environment contribute to  phenotypic  differences among individuals. [ 26 ]


The basic intuition of the twin study is that  monozygotic  twins share 100% of their genome and  dizygotic  twins share, on average, 50% of their segregating genome. Thus, differences between the two members of a monozygotic twin pair can only be due to differences in their environment, whereas dizygotic twins will differ from one another due to genes in addition to the environment. Under this simplistic model, if dizygotic twins differ more than monozygotic twins it can only be attributable to genetic influences. An important assumption of the twin model is the  equal environment assumption [ 27 ]  that monozygotic twins have the same shared environmental experiences as dizygotic twins. If, for example, monozygotic twins tend to have more similar experiences than dizygotic twins—and these experiences themselves are not genetically mediated through  gene-environment correlation  mechanisms—then monozygotic twins will tend to be more similar to one another than dizygotic twins for reasons that have nothing to do with genes. [ 28 ]  While this assumption should be kept in mind when interpreting the results of twin studies, research tends to support the equal environment assumption. [ 29 ]


Twin studies of monozygotic and dizygotic twins use a biometrical formulation to describe the influences on twin similarity and to infer heritability. [ 26 ] [ 30 ]
The formulation rests on the basic observation that the  variance  in a phenotype is due to two sources, genes and environment. More formally,

 V
 a
 r
 (
 P
 )
 =
 g
 +
 (
 g
 ×
 ϵ
 )
 +
 ϵ

 {\displaystyle Var(P)=g+(g\times \epsilon )+\epsilon }

 , where

 P

 {\displaystyle P}

  is the phenotype,

 g

 {\displaystyle g}

  is the effect of genes,

 ϵ

 {\displaystyle \epsilon }

  is the effect of the environment, and

 (
 g
 ×
 ϵ
 )

 {\displaystyle (g\times \epsilon )}

  is a  gene by environment interaction . The

 g

 {\displaystyle g}

  term can be expanded to include  additive  (

 a

 2

 {\displaystyle a^{2}}

 ),  dominance  (

 d

 2

 {\displaystyle d^{2}}

 ), and  epistatic  (

 i

 2

 {\displaystyle i^{2}}

 ) genetic effects. Similarly, the environmental term

 ϵ

 {\displaystyle \epsilon }

  can be expanded to include shared environment (

 c

 2

 {\displaystyle c^{2}}

 ) and non-shared environment (

 e

 2

 {\displaystyle e^{2}}

 ), which includes any  measurement error . Dropping the gene by environment interaction for simplicity (typical in twin studies) and fully decomposing the

 g

 {\displaystyle g}

  and

 ϵ

 {\displaystyle \epsilon }

  terms, we now have

 V
 a
 r
 (
 P
 )
 =
 (

 a

 2

 +

 d

 2

 +

 i

 2

 )
 +
 (

 c

 2

 +

 e

 2

 )

 {\displaystyle Var(P)=(a^{2}+d^{2}+i^{2})+(c^{2}+e^{2})}

 . Twin research then models the similarity in monozygotic twins and dizygotic twins using simplified forms of this decomposition, shown in the table. [ 26 ]


The simplified Falconer formulation can then be used to derive estimates of

 a

 2

 {\displaystyle a^{2}}

 ,

 c

 2

 {\displaystyle c^{2}}

 , and

 e

 2

 {\displaystyle e^{2}}

 . Rearranging and substituting the

 r

 M
 Z

 {\displaystyle r_{MZ}}

  and

 r

 D
 Z

 {\displaystyle r_{DZ}}

  equations one can obtain an estimate of the additive genetic variance, or  heritability ,

 a

 2

 =
 2
 (

 r

 M
 Z

 −

 r

 D
 Z

 )

 {\displaystyle a^{2}=2(r_{MZ}-r_{DZ})}

 , the non-shared environmental effect

 e

 2

 =
 1
 −

 r

 M
 Z

 {\displaystyle e^{2}=1-r_{MZ}}

  and, finally, the shared environmental effect

 c

 2

 =
 2

 r

 D
 Z

 −

 r

 M
 Z

 {\displaystyle c^{2}=2r_{DZ}-r_{MZ}}

 . [ 26 ]  The Falconer formulation is presented here to illustrate how the twin model works. Modern approaches use  maximum likelihood  to estimate the genetic and environmental  variance components . [ 31 ]


The  Human Genome Project  has allowed scientists to directly  genotype  the  sequence  of human  DNA   nucleotides . [ 32 ]  Once genotyped,  genetic variants  can be tested for  association  with a behavioural  phenotype , such as  mental disorder ,  cognitive ability ,  personality , and so on. [ 33 ]


Some behavioural genetic designs are useful not to understand genetic influences on behaviour, but to  control  for genetic influences to test environmentally-mediated influences on behaviour. [ 52 ]  Such behavioural genetic designs may be considered a subset of  natural experiments , [ 53 ]   quasi-experiments  that attempt to take advantage of naturally occurring situations that mimic true  experiments  by providing some  control  over an  independent variable . Natural experiments can be particularly useful when  experiments  are infeasible, due to practical or  ethical  limitations. [ 53 ]


A general limitation of  observational studies  is that the relative influences of genes and environment are  confounded . A simple demonstration of this fact is that measures of 'environmental' influence are heritable. [ 54 ]  Thus, observing a  correlation  between an environmental risk factor and a health outcome is not necessarily evidence for environmental influence on the health outcome. Similarly, in  observational studies  of parent-child behavioural transmission, for example, it is impossible to know if the transmission is due to genetic or environmental influences, due to the problem of passive  gene–environment correlation . [ 53 ]  The simple observation that the children of parents who use  drugs  are more likely to use drugs as adults does not indicate  why  the children are more likely to use drugs when they grow up. It could be because the children are  modelling  their parents' behaviour. Equally plausible, it could be that the children inherited drug-use-predisposing genes from their parent, which put them at increased risk for drug use as adults regardless of their parents' behaviour. Adoption studies, which parse the relative effects of rearing environment and genetic inheritance, find a small to negligible effect of rearing environment on  smoking ,  alcohol , and  marijuana  use in adopted children, [ 55 ]   [ non-primary source needed ]  but a larger effect of rearing environment on  harder drug  use. [ 56 ] [ non-primary source needed ]


Other behavioural genetic designs include discordant twin studies, [ 52 ]  children of twins designs, [ 57 ]  and  Mendelian randomization . [ 58 ]


There are many broad conclusions to be drawn from behavioural genetic research about the nature and origins of behaviour. [ 3 ] [ 59 ]  Three major conclusions include: [ 3 ]