In the 2014 Y-DNA and mtDNA study, one Mesolithic sample dated 6080–6020 BCE from  Vela Spila  near  Vela Luka  on island  Korčula  belonged to mtDNA haplogroup U5b2a5 common in hunter-gatherer communities, while other eleven Neolithic  Starčevo culture  samples dated circa 6000–5400 BCE from  Vinkovci  were assigned haplogroups J1c, K1a, T2b, HV0, K, V, V6, which reveal similar mtDNA diversity and shared ancestry in early farming populations from the  Pannonian Basin  and the populations of the Central European  LBK , accompanied by a reduction of the Mesolithic mtDNA substratum. [ 1 ]  Preliminary results from 2016 mtDNA study, which will approximately include 30 samples from Neolithic and 5 samples from Early to Late Bronze Age, on 5 ancient Croatian  petrous bones  (3 Neolithic  Cardial Impresso  from Zemunica Cave near  Bisko , 1 Middle Neolithic  Danilo culture  from Zidana Cave near Staničići Žumberački, 1 Mid/Late Bronze Age from Jazinka Cave near  Nečven ) indicated mtDNA haplogroups K2 and K1b1a, H1e/H41, H1b for Neolithic samples similar to  Early European Farmers  (EEFs) and modern  Sardinians  and Southern Europeans, while haplogroup HV or H4 for Bronze Age sample similar to modern day Croatian and Balkan population, but without clear evidence for connection with the Indo-European migration. [ 47 ]  The 2018 study which included 17 samples from Croatia; Mesolithic (7308–7027 BCE) from Vela Spila to U5b2b, three Croatia Cardial Neolithic (6005–5751 BCE) samples from Zemunica Cave to H1, K1b1a and N1a1, Early-Neolithic Starčevo (5837–5659 BCE) from Beli Manastir-Popova zemlja to U8b1b1, two Early-Neolithic Croatia Impressa (5670–5560 BCE) samples from Kargadur to H5a and H7c, two Middle-Neolithic Sopot (5207–4546 BCE) samples from Osijek to U5a1a2 and H10, two Late-Neolithic Sopot (4790–4536 BCE) samples from Beli Manastir-Popova zemlja to U5b2b and N1a1, Eneolithic (3710–3360 BCE) from Radovanci to J1c2, three  Vučedol  (3000–2582 BCE) samples from Beli Manastir-Popova zemlja and Vucedol Tell to T2e, T2c2 and U4a, Early-Middle Bronze Age (1631–1521 BCE) from Veliki Vanik to I1a1, and the Late Bronze Age (805–761 BCE) sample from Jazinka Cave belonged to HV0e. [ 2 ]  The 2021 study included 38 Neolithic (4200 BCE) samples from Potočani in Eastern Croatia and belonged to H, H4a1, H5b, H7, H13b1, H26, H42, HV, J1, K1a1, K1a3a, K1a4a1, K1b1b1, N1a1a1, N1a1a1a2, N1a1a1a3, T1a2, T2b, T2b23, T2f, U2, U5b1d1 and X2b, "suggesting that the Potočani victims belonged to a large community with a diverse pool of female lineages". [ 6 ]  In the same year study of 28 samples from Neolithic up to Roman times in Eastern Croatia found H, HV9, J2b1a5, K1a, K1a1, K1a1a, K1a4, K1a5, K1b1b1, K2a, K2b1, N1a1a1, N1a1a1a2, N1a1a1a3, T2b, T2b11, T2b21, T2b3, T2c1d1, T2f2, U2e1a1, U5a1g, U5b1b1a, U5b2b, U8b1a1. [ 8 ]


The 2011 mtDNA study on 27 early medieval skeletal remains in Naklice near  Omiš  in Southern Dalmatia showed that 67% belonged to haplogroup H, 18% to J, 11% to U5, and 4% to HV. [ 48 ]  The 2015 mtDNA study on medieval skeletal remains in  Šopot  (14th-15th century) and  Ostrovica  (9th century) in Northern Dalmatia confirmed that profiles inherited by the maternal line differed neither between Ostrovica and Šopot site nor between medieval and modern populations, showing the same haplogroup prevalence (H, J, U) in both medieval and contemporary populations. [ 49 ]  The 2014 study of a male skeleton found in  Split  from Late Roman Period (dated 1760±80 YBP) showed that it belonged to haplogroup H. [ 50 ]


Genetically, on the maternal  mitochondrial DNA  line, a majority (>65%) of Croats from Croatia (mainland and coast) belong to three of the eleven major European mtDNA haplogroups –  H  (25.5-45%),  U  (18.85-22%),  J  (7.5-11%), while a large minority (>35%) belongs to many other smaller haplogroups. [ 51 ] [ 52 ]


In all the studies, haplogroup H is the most frequent (45% in 2014) maternal haplogroup in Croatian mainland (continental) and coast respectively, but in most recent 2020 study is at lower frequencies of 25.5% due to nomenclature differences primarily of R/R0 (7.5%) lineages. [ 52 ]  The highest frequency in Croatia observed in population of island  Korčula  (60.2%),  Susak  (66%) and  Mljet  (73.5%), [ 51 ] [ 53 ]  while lowest frequency in islands  Cres  (27.7%), [ 54 ]  and  Hvar  (27.8%). [ 55 ]  It is the dominant European haplogroup. [ 51 ]  The elevated frequency of subhaplogroup H1b in Mljet (30.9%), otherwise rare in other studies, is a typical example of a founder effect – migration from the nearest coastal region and micro-evolutionary expansion in the island. [ 51 ]


Haplogroup U (18.85% in 2014, [ 56 ]  22% in 2020 [ 52 ] ) is mostly represented by its subclade  U5  which is the second most frequent haplogroup, with 11.6% in the mainland and 10.4% in the coast, with similar frequencies in the islands of  Brač  (8.6%),  Krk  (11.3%), and Hvar (14.8%), while lowest in Korčula (2%). [ 55 ]  Overall the haplogroup U, including its subclades like U5, is the most frequent in the city of  Dubrovnik  (19.9%) and islands  Lastovo  (23.5%) and Cres (29.4%). [ 54 ] [ 51 ]  It is the oldest European haplogroup (coalescence age circa 50,000 YBP) and its subclade U5 makes the majority of the haplogroup diversity in Europe. The high frequency of  U4  in Lastovo (11.8%) indicates founder effect. [ 51 ]


Haplogroup J is the third most frequent haplogroup (7.5% in 2020 [ 52 ] ), with 11.9% in the mainland but only 3.1% in the coast, however the islands had higher frequencies than the coastal population Korčula (6.1%), Brač (8.6%), Krk (9%), Hvar (9.3%), [ 55 ]  peak in  Žumberak  (12.34%) [ 56 ]  and Lastovo (19.6%), [ 51 ]  while in Cres is almost totally absent. [ 54 ]


Haplogroup  T  is third or fourth most frequent haplogroup (10% in 2020 [ 52 ] ). Its subclade T2 has similar frequency of 3.1-5.8% in both the coastal and mainland as well insular population, with exceptional peak in island Hvar (12%), [ 55 ] [ 54 ]  and Susak (33%), [ 53 ]  however the overall haplogroup T has lower frequency in Mljet (1.5%), Lastovo (3.9%) and Dubrovnik (2.3). [ 51 ]


Haplogroup  K  (7.5% in 2020 [ 52 ] ) has average frequency of 3.6% in the mainland and 6.3% in the coast, it is absent in Lastovo [ 51 ]  and it has lowest frequency in the islands Cres (3.36%) [ 54 ]  and Hvar (3.7%), while highest in the island Brač (9.5%). [ 55 ]


Haplogroup  V  (under  HV  > HV0) is a younger sister clade of haplogroup H, [ 51 ]  and has almost the same minimum and maximum frequency (4-5.7%) in both continental and insular populations, with exception in Korčula (8.2%), [ 55 ]  as well lower frequency in Mljet (1.5%), Lastovo (2%) and Dubrovnik (3.3%). [ 51 ]


Haplogroup  W  frequency in the mainland and coastal population is between 2.2 and 4.2%, while between insular populations 1.9-3.1%, with exception in Krk (7.5%), [ 55 ]  and Cres (12.6%). [ 54 ]  In islands Mljet and Lastovo is between 4.4 and 5.9%, while in Dubrovnik is almost absent (0.6%). [ 51 ]


Other mtDNA haplogroup with notable local peaks are: HV subclades with low frequencies in the mainland and coast (0.4-2.1%) but average (4.1-4.6) in islands, and high in Dubrovnik (7.7%) [ 51 ]  and Brač (10.5%). [ 55 ]  Haplogroup  N1a  in Cres (9.24%) is the northernmost finding till now of this branch in Europe, and haplotypes indicate a relatively recent founder effect. [ 54 ]  It is a characteristic haplogroup of the early farmers. [ 1 ]  Haplogroup  F  which is almost absent (only 0.2-0.4% in the mainland), but peaks at 8.3% in Hvar. [ 55 ] [ 56 ]  Haplogroup  I  in Krk (11.3%), which subhaplogroups separated around the LGM. [ 57 ]  Haplogroup  X  ranges 0.63-3.17%, mainly belonging to subclade X2 > X2b, [ 56 ]  and recent research of Cres and Rab possibly found a "new, island-specific" X3 lineage which "formed within the Croatian population". [ 58 ]


For decades the Croatian insular populations have been studied because of their isolation which can trace micro-evolutionary processes and understand evolutionary forces, like genetic drift (specific genetic expression), founder effect and population bottlenecks (reduction of population size) which shaped the contemporary population. The results until now indicate that the genetic flow and influx of women to the islands was limited. [ 51 ]  A moderate genetic isolate can also be considered for the continental population of mountainous region  Žumberak  because they had a loose affinity with  Uskoks 's proposed region of origin (Bosnians, Herzegovinians, southern Croatians) or to their current closest neighbors (northern Croatians and Slovenians). [ 56 ]  On the example of population of the island of Krk, the high-resolution mtDNA analysis showed evidence that settlements  Omišalj ,  Vrbnik , and  Dobrinj  are related in a joint cluster of early Slavic settlements, while  Poljica  and  Dubašnica  regions a separate cluster founded by Slavic and  Vlachs  or  Morlachs  migrants from the Velebit hinterland who arrived in the 15th century. [ 57 ]  On the example of population of the island of Mljet can be perceived demographic and historical events like the island's use for quarantine station, while along Vis and Lastovo consanguinity practice and inbreeding due to lack of genetic diversity, being suitable for genetic-epidemiological research. [ 51 ]


In the 2004 mtDNA analysis, one cluster was formed by populations from islands Hvar, Krk and Brač, and second cluster included Croatian mainland and Croatian coast, while the island of Korčula was distinguished due to exceptionally high frequency of haplogroup H. [ 55 ]  In the 2009 mtDNA interpopulation PCA analysis of sub-haplogroups, insular populations from Krk,  Ugljan , Korčula, Brač, Hvar were clustered together implying to have close maternal lineages, with Vis close to them, but  Rab  (U4, H6, J1c) and especially Cres (prevalence U2, W, N1a) had separate outlying positions from both the cluster and each other, and confirmed "that genetic drift, especially founder effect, has played significant role in shaping genetic composition of the isolated population of the island of Cres". [ 54 ]  In 2017 study the greatest outlier due to isolation, endogamy and lowest reported gene diversity index was Susak. [ 53 ]  In the 2014 mtDNA PCA analysis, the populations from eastern and southern Croatia clustered together with Bosnia and Herzegovina, while western and northern Croatia with Slovenia. As Slovenian population does not form Southeast Europe cluster it is considered a possible input from different migration waves of Slavs in the  Middle Ages . [ 56 ]


According to 2013  autosomal   IBD  survey "of recent genealogical ancestry over the past 3,000 years at a continental scale", the speakers of Serbo-Croatian language share a very high number of common ancestors dating to the  migration period  approximately 1,500 years ago with Poland and Romania-Bulgaria cluster among others in Eastern Europe. It is concluded to be caused by the  Hunnic  and Slavic expansion, which was a "relatively small population that expanded over a large geographic area", particularly "the expansion of the Slavic populations into regions of low population density beginning in the sixth century" and that it is "highly coincident with the modern distribution of Slavic languages". [ 60 ]  According to Kushniarevich et al., the Hellenthal et al. 2014 IBD analysis also found "multi-directional admixture events among East Europeans (both Slavic and non-Slavic), dated to around 1,000–1,600 YBP" which coincides with "the proposed time-frame for the Slavic expansion". [ 61 ]  The 2015 IBD analysis found that the South Slavs have lower proximity to Greeks than with East and West Slavs, and that there's an "even patterns of IBD sharing among East-West Slavs–'inter-Slavic' populations ( Hungarians ,  Romanians  and  Gagauz )–and South Slavs, i.e. across an area of assumed historic movements of people including Slavs". The slight peak of shared IBD segments between South and East-West Slavs suggests a shared "Slavonic-time ancestry". [ 61 ]  The 2014 IBD analysis comparison of Western Balkan and Middle Eastern populations also found negligible gene flow between 16th and 19th century during the  Islamization  of the Balkans. [ 36 ]  In the 2022 analysis Croatian, Bosnian and Herzegovinian, and Serbian individuals made "Northwestern Balkans" cluster which had less Southern European ("Greek") ancestry than "Northeastern Balkans" cluster formed by Romanian and Bulgarian individuals. The "NW Balkans" cluster also had "slightly longer within-cluster IBD segments than NE Balkans, which is matched with a consistently lower  Ne  and elevated  ROH —suggestive of a smaller population than the northeast of the Balkans". [ 59 ]


According to a 2014 autosomal analysis of Western Balkan, the Croatian population shows genetic uniformity with other South Slavic populations. The Croatians and Bosnians were more close to East European populations and largely overlapped with Hungarians from Central Europe. [ 36 ]  In the 2015 analysis, they formed a western South Slavic cluster with the Bosnians and Slovenians in comparison to eastern cluster formed by Macedonians and Bulgarians with Serbians in the middle. The western cluster has an inclination toward Hungarians, Czechs, and Slovaks, while the eastern cluster toward Romanians and some extent Greeks. [ 61 ]  The modeled ancestral genetic component of Balto-Slavs among South Slavs was between 55 and 70%. [ 61 ]  In the 2018 analysis of  Slovenian  population, the Croatian population again clustered with Slovenians, Hungarians and was close to Czech. The population of Croatia mostly shares a common ancestry with Eastern, Western, and Southern Europeans, and has almost no relation to isolated populations like the  Sardinians  and the  Basques . [ 36 ] [ 62 ]


According to 2023 archaeogenetic study autosomal qpAdm modelling, the modern-day Croats are 66.5% of Central-Eastern European early medieval Slavic ancestry, 31.2% of Croatia-Serbia local Roman ancestry and 2.4% Roman Imperial Era West Anatolian ancestry. [ 13 ]


According to 2005 and 2006 autosomal STR marker studies the most isolated islands were Korčula, [ 63 ]  and Susak. [ 41 ]  A 2016 whole  exome sequencing  study of 176 individuals from the  island of Vis  confirmed the isolate status of the island's population, and revealed the "pattern of loss-of-function mutations, which resembles the trails of adaptive evolution". [ 64 ]  The 2022 autosomal STR marker study on 2877 unrelated individuals from mainland (cities Zagreb, Pazin, Delnice, Zabok and Donji Miholjac, and region of Baranja) and insular (Krk, Cres, three North Dalmatian islands Ugljan-Pašman-Dugi Otok, Brač, Hvar, Korčula and Vis) subpopulations found higher genetic differentiation (0.005) compared to Southeastern Europe (0.002) indicating "a certain degree of genetic isolation, most likely due to the influence of endogamy within rural island populations". Croatian population is closest to Bosnia and Herzegovina, Hungary and Slovenia. There are visible four main clusters within sampled Croats, first including Mainland-Brač and Krk-North Dalmatian islands, second Hvar-Korčula, third Cres, and fourth Vis, the latter two having highest distances from the others. [ 65 ]


This article summarizes the genetic makeup and population history of  East Asian peoples  and their connection to genetically related populations such as  Southeast Asians  and  North Asians , as well as  Oceanians , and partly,  Central Asians ,  South Asians , and  Native Americans . They are collectively referred to as " East Eurasians " in population genomics. [ 1 ]


Population genomic research has studied the origin and formation of modern East Asians. The ancestors of East Asians ( Ancient East Eurasians ) split from other human populations possibly as early as 70,000 to 50,000 years ago. Possible routes into  East Asia  include a northern route model from  Central Asia , beginning north of the  Himalayas , and a  southern route  model, beginning south of the Himalayas and moving through  Southeast Asia . [ 3 ] [ 4 ] [ 1 ]  Seguin-Orlando et al. (2014) stated that East Asians diverged from  West Eurasians , which occurred at least 36,200 years ago, during the  Upper Paleolithic . [ 5 ]  Vallini et al. 2024 noted that this divergence most likely occurred on the  Persian Plateau  48,000 years ago. [ 6 ]


Phylogenetic data suggests that an early  Initial Upper Paleolithic  wave (>45kya) "ascribed to a population movement with uniform genetic features and material culture" ( Ancient East Eurasians ) used a  Southern dispersal route  through  South Asia , where they subsequently diverged rapidly, and gave rise to  Australasians  (Oceanians), the Ancient Ancestral South Indians (AASI), as well as  Andamanese  and East/Southeast Asians, [ 7 ]  although  Papuans  may have also received some geneflow from an earlier group (xOoA), [ 8 ]  around 2%, [ 9 ]  next to additional archaic admixture in the  Sahul  region.


The southern route model for East Asians has been corroborated in multiple recent studies, showing that most of the ancestry of Eastern Asians arrived from the southern route in to Southeast Asia at a very early period, starting perhaps as early as 70,000 years ago, and dispersed northward across Eastern Asia. [ 11 ] [ 12 ] [ 13 ] [ 14 ] [ 15 ] [ 16 ] [ 1 ]  However, genetic evidence also supports more recent migrations to East Asia from  Central Asia  and  West Eurasia  along the northern route, as shown by the presence of haplogroups  Q  and  R , as well as  Ancient North Eurasian  ancestry. [ 17 ] [ 18 ]


The southern migration wave likely diversified after settling within East Asia, while the northern wave, which probably arrived from the Eurasian steppe, mixed with the southern wave, probably in Siberia. [ 19 ]


A review paper by Melinda A. Yang (in 2022) described the  East- and Southeast Asian lineage  (ESEA); which is ancestral to modern  East Asians ,  Southeast Asians ,  Polynesians , and  Siberians , originated in  Mainland Southeast Asia  at c. 50,000 BCE, and expanded through multiple migration waves southwards and northwards, respectively. The ESEA lineage is also ancestral to the "basal Asian"  Hoabinhian hunter-gatherers  of Southeast Asia and the c. 40,000-year-old  Tianyuan  lineage found in  Northern China , which can already be differentiated from the deeply related Ancestral Ancient South Indians (AASI) and  Australasian  (AA) lineages. [ 7 ]  There are currently eight detected, closely related, sub-ancestries in the ESEA lineage:


The genetic makeup of East Asians is primarily characterized by "Yellow River" (East Asian) ancestry which formed from a major  Ancient Northern East Asian  (ANEA) component and a minor  Ancient Southern East Asian  (ASEA) one. The two lineages diverged from each other at least 19,000 years ago, after the divergence of the  Jōmon ,  Guangxi  (Longlin),  Hoabinhian  and  Tianyuan lineages . [ 21 ] [ 7 ]  Contemporary East Asians (notably Sino-Tibetan speakers) mostly have Yellow River ancestry, which is associated with millet and rice cultivation. "East Asian Highlanders" (Tibetans) carry both Tibetan ancestry and Yellow River ancestry. Japanese people were found to have a tripartite origin; consisting of Jōmon ancestry, Amur ancestry, and Yellow River ancestry. [ 22 ] [ 23 ]  East Asians carry a variation of the  MFSD12  gene, which is responsible for lighter skin colour. [ 24 ]  Huang et al. (2021) found evidence for light skin being  selected  among the ancestral populations of West Eurasians and East Eurasians, prior to their divergence. [ 25 ]


Northeast Asians such as  Tungusic ,  Mongolic , and  Turkic  peoples derive most of their ancestry from the "Amur" ( Ancient Northeast Asian ) subgroup of the  Ancient Northern East Asians , which expanded massively with  millet  cultivation and  pastoralism . Tungusic peoples display the highest genetic affinity to Ancient Northeast Asians, represented by c. 7,000 and 13,000 year old specimens, whereas Turkic peoples have significant West Eurasian admixture. [ 26 ] [ 27 ]


East Asian populations exhibit some European-related admixture, originating from  Silk Road  traders and interactions with Mongolians, who were well-acquainted with European-like populations. This is more common among northern Han Chinese (2.8%) than southern Han Chinese (1.7%), Japanese (2.2%), and Koreans (1.6%). However, East Asians have less European-related admixture than Northeast Asians like Mongolians (10.9%),  Oroqen  (9.6%),  Daur  (8.0%), and  Hezhen  (6.8%). [ 28 ]


Austronesians mainly carry "Fujian" ( Ancient Southern East Asian ) ancestry, which is associated with the spread of  rice cultivation . Isolated hunter-gatherers in Southeast Asia, specifically in Malaysia and Thailand, such as the  Semang , derive most of their ancestry from the Hoabinhian lineage. [ 29 ] [ 30 ] [ 31 ]  The emergence of the  Neolithic in Southeast Asia  went along with a population shift caused by migrations from southern China. Neolithic Mainland Southeast Asian samples predominantly have Ancient Southern East Asian ancestry with Hoabinhian-related admixture. In modern populations, this admixture of Ancient Southern East Asian and Hoabinhian ancestry is most strongly associated with  Austroasiatic  speakers. [ 32 ]


An early branch of Ancient Northern East Asians, together with  Ancient North Eurasians , gave rise to the  Ancient Paleo-Siberians , who in turn gave rise to both "modern Paleo-Siberians" (such as  Chukotko-Kamchatkan ,  Yeniseian , and  Nivkh  speakers) and contemporary  Native Americans . Paleo-Siberian ancestry was once widespread across  North Asia , but it was largely replaced by Neo-Siberian ancestry due to a major population turnover from the south, possibly involving  Uralic  and  Yukaghir  speakers. This was later followed by another expansion from the south in relatively recent times, associated with Amur River ancestry involving Tungusic, Mongolic, and Turkic speakers.


[ 33 ] [ 34 ]


The  Xiongnu , possibly a  Turkic ,  Mongolic ,  Yeniseian  or multi-ethnic people, were a  confederation [ 35 ]  of  nomadic  peoples who, according to ancient  Chinese sources , inhabited the eastern  Eurasian Steppe  from the 3rd century BC to the late 1st century AD.  Chinese sources  report that  Modu Chanyu , the supreme leader after 209 BC, founded the Xiongnu Empire. [ 36 ]


It was found that the "predominant part of the Xiongnu population is likely to have spoken Turkic". However, important cultural, technological and political elements may have been transmitted by Eastern  Iranian -speaking Steppe nomads: "Arguably, these Iranian-speaking groups were assimilated over time by the predominant Turkic-speaking part of the Xiongnu population". [ 37 ]  This is reflected by the average genetic makeup of Xiongnu samples, having approximately 58% East Eurasian ancestry, represented by a Bronze Age population from  Khövsgöl , Mongolia, which may be associated with the Turkic linguistic heritage. The rest of the Xiongnu's ancestry (~40%) was related to West Eurasians, represented by the  Gonur Depe   BMAC  population of Central Asia, and the  Sintashta  culture of the Western steppe. [ 37 ] [ 38 ]  The Xiongnu displayed striking heterogeneity and could be differentiated into two subgroups, "Western Xiongnu" and "Eastern Xiongnu", with the former being of "hybrid" origins displaying affinity to previous  Saka  tribes, such as represented by the  Chandman culture , while the later was of primarily  Ancient Northeast Asian  ( Ulaanzuukh - Slab Grave ) origin. [ 39 ] [ 37 ]  High status Xiongnu individuals tended to have less genetic diversity, and their ancestry was essentially derived from the Eastern Eurasian  Ulaanzuukh / Slab Grave culture . [ 40 ]


A review of the available research has shown that, as a whole, 53% of Xiongnu paternal haplogroups were East Eurasian, while 47% were West Eurasian. [ 41 ]  In 2012, Chinese researchers published an analysis of the paternal haplogroups of 12 elite Xiongnu male specimens from Heigouliang in  Xinjiang , China. Six of the specimens belonged to  Q1a , while four belonged to  Q1b-M378 . 2 belonged to unidentified clades of Q*. [ 42 ]  In another study, a probable  Chanyu  of the Xiongnu empire was assigned to  haplogroup R1 . [ 43 ] [ 44 ]


The bulk of the genetics research indicates that, as a whole, 73% of Xiongnu maternal haplogroups were East Eurasian, while 27% were West Eurasian. [ 45 ]  A 2003 study found that 89% of Xiongnu maternal lineages from the  Egiin Gol  valley were of East Asian origin, while 11% were of West Eurasian origin. [ 46 ]  A 2016 study of Xiongnu from central Mongolia found a considerably higher frequency of West Eurasian maternal lineages, at 37.5%. [ 47 ]


A full genome study on multiple Xianbei remains found them to be derived primarily to exclusively from the  Ancient Northeast Asian  gene pool. [ 48 ]


A genetic study published in the  American Journal of Physical Anthropology  in August 2018 noted that the paternal  haplogroup C2b1a1b  has been detected among the Xianbei and the  Rouran , and was probably an important lineage among the  Donghu people . [ 49 ]


Genetic studies published in 2006 and 2015 revealed that the  mitochondrial haplogroups  of Xianbei remains were of  East Asian  origin. According to Zhou (2006) the maternal haplogroup frequencies of the Tuoba Xianbei were 43.75%  haplogroup D , 31.25%  haplogroup C , 12.5%  haplogroup B , 6.25%  haplogroup A  and 6.25% "other". [ 50 ]  Zhou (2014) obtained  mitochondrial DNA  analysis from 17 Tuoba Xianbei, which indicated that these specimens were, similarly, completely East Asian in their maternal origins, belonging to haplogroups D, C, B, A, O and  haplogroup G . [ 51 ] [ 52 ]


The Jōmon people represent the indigenous population of the  Japanese archipelago  during the  Jōmon period . They are inferred to descend from the Paleolithic inhabitants of  Japan . Genetic analyses on Jōmon remains found them to represent a deeply diverged  East Asian  lineage. The Jōmon lineage is inferred to have diverged from Ancient East Asians before the divergence between  Ancient Northern East Asians  and  Ancient Southern East Asians , but after the divergence of the basal  Tianyuan man  and or  Hoabinhians . Beyond their broad affinity with Eastern Asian lineages, the Jōmon also display a weak affinity for  Ancient North Eurasians  (ANE), which may be associated with the introduction of  microblade technology  to Northeast Asia and northern East Asia during the  Last Glacial Maximum  via the ANE or  Ancient Paleo-Siberians . [ 53 ] [ 54 ]


The Hoabinhians represent a technologically advanced society of hunter-gatherers, primarily living in  Mainland Southeast Asia , but also adjacent regions of  Southern China . While the Upper Paleolithic origins of this 'Hoabinhian ancestry' are unknown, Hoabinhian ancestry has been found to be related to the main 'East Asian' ancestry component found in most modern East and Southeast Asians, although deeply diverged from it. [ 55 ] [ 56 ]  Together with the Paleolithic  Tianyuan man , they form early branches of East Asian genetic diversity, and are described as "Basal Asian" (BA) or "Basal East Asian" (BEA). [ 57 ]


A study on the Manchu population of  Liaoning  reported that they have a close genetic relationship and significant admixture signals from northern  Han Chinese . The Liaoning Manchu were formed from a major ancestral component related to  Yellow River  farmers and a minor ancestral component linked to ancient populations from the  Amur River  Basin, or others. The Manchu were therefore an exception to the coherent genetic structure of Tungusic-speaking populations, likely due to the large-scale population migrations and genetic admixtures in the past few hundred years. [ 59 ]


A plurality of  Daur  males belong to  Haplogroup C-M217  (12/39 = 30.8% according to Xue Yali  et al.  2006, [ 60 ]  88/207 = 42.5% according to Wang Chi-zao  et al.  2018 [ 61 ] ), with  Haplogroup O-M122  being the second most common haplogroup among present-day Daurs (10/39 = 25.6%, [ 60 ]  52/207 = 25.1% [ 61 ] ). There are also tribes ( hala ;  cf.   Kazakh tribes ) among the Daurs that belong predominantly to other Y-DNA haplogroups, such as  Haplogroup N-M46/M178  ( Merden hala ) and  Haplogroup O1b1a1a-M95  ( Gobulo hala ). [ 61 ]   Haplogroup C3b2b1*-M401(xF5483) [ 62 ] [ 63 ] [ 64 ]  has been identified as a possible marker of the  Aisin Gioro  and is found in ten different ethnic minorities in northern China, but is less prevalent from Han Chinese. [ 65 ] [ 66 ] [ 64 ]  The  Manchu people  also display a significant amount of  haplogroup C-M217 , but the most often observed Y-DNA haplogroup among present-day Manchus is  Haplogroup O-M122 , which they share in common with  the general population of China . [ 67 ] [ 60 ] [ 68 ]


The exact origins of the early Ainu remains unclear, but it is generally agreed to be linked to the  Satsumon culture  of the  Epi-Jōmon period , with later influences from the nearby  Okhotsk culture . [ 69 ]  The Ainu appear genetically most closely related to the  Jōmon period peoples  of Japan. The genetic makeup of the Ainu represents a "deep branch of East Asian diversity". Compared to contemporary East Asian populations, the Ainu share "a closer genetic relationship with northeast Siberians". [ 11 ] [ 54 ]


Japanese populations in modern Japan can be traced to three separate, but related demographics: the  Ainu ,  Ryukyuan  and Mainland Japanese ( Yamato ). The populations are closely related to clusters found in Northeastern Asia [ 72 ] [ 73 ] [ 74 ]  with the Ainu group being most similar to the Ryukyuan group, [ 73 ] [ 75 ]  the Ryukyuan group being most similar to the Yamato group, [ 76 ]  and the Yamato group being most similar to  Koreans [ 77 ] [ 78 ] [ 79 ] [ 80 ]  among other East Asian people.


The majority of Japanese genetic ancestry is derived from sources related to other mainland Asian groups, mostly Koreans, while the other amount is derived from the local Jōmon hunter-gatherers. [ 80 ]


According to a full genome analyses, the modern Japanese harbor a Northeast Asian (Amur River ancestry), an East Asian (Yellow River ancestry), and an indigenous Jōmon component. In addition to the indigenous Jōmon hunter-gatherers and the Yayoi period migrants, a new strand was hypothesized to have been introduced during the Yayoi-Kofun transition period that had strong cultural and political affinity with Korea and China. [ 81 ]  However, this theory is mildly criticized in recent years (see  Genetic and anthropometric studies on Japanese people#Tripartite ancestry theory ).


A comprehensive study of worldwide Y-DNA diversity (Underhill  et al.  2000) included a sample of 23 males from Japan, of whom 35% belonged to  haplogroup D-M174 , 26% belonged to  O-M175 , 22% belonged to  O-M122 , 13% belonged to  C-M8  and  C-M130 , and 4.3% belonged to  N-M128 . [ 82 ]  Poznik  et al.  (2016) reported the haplogroups of a sample of Japanese men from Tokyo: [ 83 ]  36% belonged to  D2-M179 , 32% had  O2b-M176 , 18% carried  O3-M122 , 7.1% carried  C1a1-M8 , 3.6% belonged to  O2a-K18 , and 3.6% carried  C2-M217 . [ 84 ]


According to an analysis of the  1000 Genomes Project 's sample of Japanese collected in the Tokyo metropolitan area, the mtDNA haplogroups found among modern Japanese include  D  (35.6%),  B  (13.6%),  M7  (10.2%),  G  (10.2%),  N9  (8.5%),  F  (7.6%),  A  (6.8%),  Z  (3.4%),  M9  (2.5%), and  M8  (1.7%). [ 85 ]


Korean populations in modern Korea can be traced to many origins from the people of the  Mumun period  to the  Yemaek people . [ 86 ]  In modern times, Koreans are related to other populations found in Northeast Asia, however according to recent studies, ancient Koreans included populations related to the  Yayoi people , [ 87 ]   Jōmon people , [ 88 ]   Siberian  influx [ 89 ]  and etc.


Ancient genome comparisons revealed that the genetic makeup of Koreans can be best described as an admixture between Northeast Asian hunter-gatherers and an influx of rice-farming Southeast Asian agriculturalists from the Yangtze river valley. [ 90 ]  This is supported by archaeological, historical and linguistic evidence, which suggest that the direct ancestors of Koreans were proto-Koreans who inhabited the northeastern region of China and the Korean Peninsula during the Neolithic (8,000–1,000 BC) and Bronze (1,500–400 BC) Ages. [ 91 ]


There is evidence for considerable genetic diversity, [ 88 ]  including elevated levels of Jōmon ancestry among early southern Koreans. [ 92 ]  It was hypothesized that the Jōmon ancestry of ancient Koreans was lost over time, as they continually mixed with incoming populations from northern China, [ 93 ]  followed by a period of isolation during the Three Kingdoms period, resulting in the homogenous gene pool of modern Koreans. [ 94 ] [ 88 ]
A 2022 study was unable to detect significant Jōmon ancestry in modern Koreans, however by using different proxies of ancestry, a Jōmon contribution of 3.1–4.4% was found for present-day Ulsan Koreans. Nevertheless, the authors suggested that the model that yielded this result is not the most reliable. [ 95 ]


Evidence for both Southern and Northern mtDNA and Y-DNA haplogroups has been observed in Koreans, similar to Japanese. [ 58 ]


Over 70% of extant genetic diversity among Koreans can be explained by admixture with ancient South Chinese immigrants, who were related to Iron Age Cambodians. [ 96 ]


Studies of  polymorphisms in the human Y-chromosome  have so far produced evidence to suggest that the  Korean people  have a long history as a distinct, mostly  endogamous  ethnic group, with successive waves of people moving to the peninsula and three major Y-chromosome haplogroups. [ 97 ]  A majority of Koreans belong to subclades of  haplogroup O-M175  ( ca.  79% in total, [ 91 ] [ 98 ]  with about 42% [ 98 ]  to 44% [ 91 ]  belonging to  haplogroup O2-M122 , about 31% [ 91 ]  to 32% [ 98 ]  belonging to  haplogroup O1b2-M176 , and about 2% [ 91 ]  to 3% [ 98 ]  belonging to  haplogroup O1a-M119 ), while a significant minority belong to subclades of  haplogroup C2-M217  ( ca.  12% [ 91 ]  to 13% [ 98 ]  in total). Other Y-DNA haplogroups, including  haplogroup N-M231 ,  haplogroup D-M55 , and  haplogroup Q-M242 , are also found in smaller proportions of present-day Koreans. [ 99 ] [ 100 ] [ 101 ]


Studies of Korean  mitochondrial DNA  lineages have shown that there is a high frequency of  Haplogroup D4 , followed by  haplogroup B , and then  haplogroup A  and  haplogroup G . Haplogroups with lower frequency include  N9 ,  Y ,  F ,  D5 ,  M7 ,  M8 ,  M9 ,  M10 ,  M11 ,  R11 ,  C , and  Z . [ 102 ] [ 103 ] [ 104 ]


The ethnogenesis of Mongolic peoples is largely linked with the expansion of  Ancient Northeast Asians . They subsequently came into contact with other groups, notably  Sinitic peoples  to their South and  Western Steppe Herders  to their far West. The Mongolians pastoralist lifestyle, may in part be derived from the Western Steppe Herders, but without much geneflow between these two groups, suggesting cultural transmission. [ 105 ] [ 106 ]  The  Mongols  are believed to be the descendants of the  Xianbei  and the  proto-Mongols . The former term includes the Mongols proper (also known as the  Khalkha Mongols ),  Oirats , the  Kalmyk people  and the Southern Mongols. The latter comprises the  Abaga Mongols ,  Abaganar ,  Aohans ,  Baarins ,  Gorlos Mongols ,  Jalaids ,  Jaruud ,  Khishigten ,  Khuuchid ,  Muumyangan  and  Onnigud . The  Daur people  are descendants of the para-Mongolic  Khitan people . [ 107 ]


The majority of Mongols in  Mongolia  and  Russia  belong to subclades of  haplogroup C-M217 , [ 108 ]  followed by lower frequency of  O-M175  and  N-M231 . [ 109 ]  A minority belongs to  haplogroup Q-M242 , and a variety of West Eurasian haplogroups. [ 110 ]


The maternal haplogroups are diverse but similar to other northern Asian populations, including  Haplogroup D ,  Haplogroup C ,  Haplogroup B , and  Haplogroup A , which are shared among indigenous American and Asian populations. [ 111 ]  West Eurasian mtDNA haplogroups makes up a some minority percentages.  Haplogroup HV ,  Haplogroup U ,  Haplogroup K ,  Haplogroup I ,  Haplogroup J  are all found in Mongolic people. [ 112 ]


The origins of the Han Chinese are primarily from Neolithic Yellow River farmers, which formed from  Ancient Northern East Asians  (ANEA) and Neolithic groups near the  Yangtze , which formed  Ancient Southern East Asians  (ASEA). [ 114 ] [ 115 ] [ 116 ] [ 117 ] [ 118 ]  Today's modern Han Chinese can be colloquially categorized into two subgroups, Northern and Southern Han Chinese, although it is a clinal population with no significant distinction. [ 119 ]  The Han Chinese cluster retains a level of singularity with its admixture of ANEA and ASEA ancestries which is unique to the group [ 117 ]  with the Southern Hans having contributions from the North and its Southern natives. [ 120 ]  In large, When comparing with other East Asian populations, the Northern Han Chinese cluster is placed closer to the " Korean / Mainland Japanese " cluster in terms of a correlative genetic relationship (mostly due to the overlap of ANEA), but is also quite distinguishable from them genetically, [ 114 ] [ 20 ]  due to the presence of ASEA ancestry [ 121 ]  and the absence of Jōmon ancestry. The Southern Han Chinese also share more alleles with  Thai  and other Kra–Dai peoples according to  principal component analysis  than Northern Han Chinese. [ 20 ]


The genetic makeup of the modern Han Chinese is not purely uniform in terms of physical appearance and biological structure due to the vast geographical expanse of China and the  migratory percolations  that have occurred throughout it over the last few  millennia. This has also engendered the emergence and evolution of the diverse multiplicity of assorted  Han subgroups  found throughout the various regions of modern China today. Comparisons between the Y chromosome  single-nucleotide polymorphisms  (SNPs) and  mitochondrial DNA  (mtDNA) of modern Northern Han Chinese and 3000 year old Hengbei ancient samples from  China's Central Plains  show that they are extremely similar to each other. These findings demonstrate that the core fundamental structural basis that shaped the genetic makeup of the present-day Northern Han Chinese was already formed more than three thousand years ago. [ 119 ]


Studies of DNA remnants from the Central Plains area of China 3000 years ago show close affinity between that population and those of Northern Han today in both the Y-DNA and mtDNA. Both northern and southern Han show similar Y-DNA genetic structure. [ 122 ]


Northern Han Chinese populations also have some West Eurasian admixture, [ 123 ]  especially Han Chinese populations in  Shaanxi  (~2%-4.6%) [ 124 ]  and  Liaoning  (~2%). [ 125 ]  During the Zhou dynasty, or earlier, peoples with  paternal  haplogroup Q-M120 also contributed to the ethnogenesis of Han Chinese people. This haplogroup is implied to be widespread in the Eurasian steppe and north Asia since it is found among  Cimmerians  in  Moldova  and Bronze Age natives of  Khövsgöl . But it is currently near-absent in these regions except for East Asia. In modern China, haplogroup Q-M120 can be found in the northern and eastern regions. [ 126 ]
 [ 127 ]  Other Y-DNA haplogroups that have been found with notable frequency in samples of Han Chinese include  O-P203  (15/165 = 9.1%, 217/2091 = 10.38%, [ 128 ]  47/361 = 13.0%),  C-M217  (10/168 = 6.0%, 27/361 = 7.5%, 176/2091 = 8.42%, [ 128 ]  187/1730 = 10.8%, 20/166 = 12.0%),  N-M231  (6/166 = 3.6%, 94/2091 = 4.50%, [ 128 ]  18/361 = 5.0%, 117/1729 = 6.8%, 17/165 = 10.3%),  O-M268(xM95, M176)  (78/2091 = 3.73%, [ 128 ]  54/1147 = 4.7%, [ 129 ]  8/168 = 4.8%, 23/361 = 6.4%, 12/166 = 7.2%), and  Q-M242  (2/168 = 1.2%, 49/1729 = 2.8%, 61/2091 = 2.92%, [ 128 ]  12/361 = 3.3%, 48/1147 = 4.2% [ 129 ] ).


However, the mtDNA of Han Chinese increases in diversity as one looks from northern to southern China, which suggests that the influx of male Han Chinese migrants intermarried with the local female non-Han aborigines after arriving in what is now modern-day Guangdong, Fujian, and other regions of southern China. [ 130 ] [ 131 ]  Despite this, tests comparing the genetic profiles of northern Han, southern Han, and non-Han southern natives determined that haplogroups O1b-M110, O2a1-M88 and O3d-M7, which are prevalent in non-Han southern natives, were only observed in some southern Han Chinese (4% on average), but not in the northern Han genetic profile. Therefore, this proves that the male contribution of the southern non-Han natives in the southern Han genetic profile is limited, assuming that the frequency distribution of Y lineages in southern non-Han natives represents that prior to the  expansion of Han culture which originated two thousand years ago from the north . [ 130 ] [ 132 ]


A recent, and to date the most extensive, genome-wide association study of the Han population, shows that geographic-genetic stratification from north to south has occurred and centrally placed populations act as the conduit for outlying ones. [ 133 ]  Ultimately, with the exception in some  ethnolinguistic  branches of the Han Chinese, such as  Pinghua  and  Tanka people , [ 134 ]  there is a "coherent genetic structure" found in the entirety of the modern Han Chinese populace. [ 135 ]  Although admixture proportions can vary according to geographic region, the average genetic distance between various Han Chinese populations is much lower than between European populations, for example. [ 136 ]


A 2018 study calculated pairwise F ST  (a measure of genetic difference) based on genome-wide SNPs, among the Han Chinese (Northern Han from  Beijing  and Southern Han from  Hunan ,  Jiangsu  and  Fujian  provinces), Japanese and Korean populations sampled. It found that the smallest F ST  value was between Northern Han Chinese (Beijing) (CHB) and Southern Han (Hunan, Fujian, etc.) Chinese (CHS) (F ST[CHB-CHS]  = 0.0014), while CHB and Korean (KOR) (F ST[CHB-KOR]  = 0.0026) and between KOR and Japanese (JPT) (F ST[JPT-KOR]  = 0.0033). Generally, pairwise F ST  between Han Chinese, Japanese and Korean (0.0026~ 0.0090) are greater than that within Han Chinese (0.0014). These results suggested Han Chinese, Japanese and Korean are different in terms of genetic make-up, and the differences among the three groups are much larger than that between northern and southern Han Chinese. [ 137 ]  Nonetheless, there is also genetic diversity among the Southern Han Chinese. The genetic composition of the Han population in Fujian might not accurately represent that of the Han population in Guangdong.


Another study shows that the northern and southern Han Chinese are genetically close to each other and it finds that the genetic characteristics of present-day northern Han Chinese were already formed prior to three thousand years ago in the  Central Plain area . [ 139 ]


A recent genetic study on the remains of people (~4,000 years  BP ) from the Mogou site in the  Gansu - Qinghai  (or Ganqing) region of China revealed more information on the genetic contributions of these ancient  Di-Qiang  people to the  ancestors  of the Northern Han. It was deduced that 3,300 to 3,800 years ago some Mogou people had merged into the ancestral Han population, resulting in the Mogou people being similar to some northern Han in sharing up to ~33% paternal (O3a) and ~70% maternal (D, A, F, M10) haplogroups. The mixing ratio was possibly 13–18%. [ 140 ]


The estimated contribution of northern Han to southern Han is substantial in both paternal and maternal lineages and a geographic  cline  exists for mtDNA. As a result, the northern Han are one of the primary contributors to the gene pool of the southern Han. However, it is noteworthy that the expansion process was not only dominated by males, as is shown by both contribution of the Y-chromosome and the mtDNA from northern Han to southern Han. Northern Han Chinese and Southern Han Chinese exhibit both Ancient Northern East Asian and Ancient Southern East Asian ancestries. [ 141 ]  These genetic observations are in line with historical records of continuous and large migratory waves of northern China inhabitants escaping warfare and famine, to southern China. Aside from these large migratory waves, other smaller southward migrations occurred during almost all periods in the past two millennia. [ 142 ]  A study by the  Chinese Academy of Sciences  into the gene frequency data of Han subpopulations and ethnic minorities in China showed that Han subpopulations in different regions are also genetically quite close to the local ethnic minorities, suggesting that in many cases, ethnic minorities ancestry had mixed with Han, while at the same time, the Han ancestry had also mixed with the local ethnic minorities. [ 143 ]


Han Chinese, similar to other East Asian populations, have inherited West Eurasian ancestry, around 2.8% in Northern Han Chinese and around 1.7% in Southern Han Chinese. [ 144 ]


An extensive, genome-wide association study of the Han population in 2008, shows that geographic-genetic stratification from north to south has occurred and centrally placed populations act as the conduit for outlying ones. [ 145 ]  Ultimately, with the exception in some  ethnolinguistic  branches of the Han Chinese, such as  Pinghua , there is "coherent genetic structure" (homogeneity) in all Han Chinese. [ 146 ]


The major haplogroups of Han Chinese belong to subclades of  Haplogroup O-M175 . Y-chromosome  O2-M122  is a common DNA marker in Han Chinese, as it appeared in China in prehistoric times, and is found in approximately 50% of Chinese males, with frequencies tending to be high toward the east of the country, ranging from 29.7% to 52% in Han from southern and central China, to 55–68% in Han from the eastern and northeastern Chinese mainland and Taiwan. [ 147 ]


Other Y-DNA haplogroups that have been found with notable frequency in samples of Han Chinese include  O-P203  (9.1–13.0%),  C-M217  (6.0–12.0%),  N-M231  (3.6–10.3%),  O-M268(xM95, M176)  (4.7–7%), and  Q-M242  (2/168 = 1.2–4.2%). [ 129 ] [ 147 ]


The mitochondrial-DNA haplogroups of the Han Chinese can be classified into the northern East Asian-dominating haplogroups, including A, C, D, G, M8, M9, and Z, and the southern East Asian-dominating haplogroups, including B, F, M7, N*, and R. [ 142 ]


These haplogroups account for 52.7% and 33.85% of those in the Northern Han, respectively. Haplogroup D is the modal mtDNA haplogroup among northern East Asians. Among these haplogroups, D, B, F, and A were predominant in the Northern Han, with frequencies of 25.77%, 11.54%, 11.54%, and 8.08%, respectively.


However, in the Southern Han, the northern and southern East Asian-dominating mtDNA haplogroups accounted for 35.62% and 51.91%, respectively. The frequencies of haplogroups D, B, F, and A reached 15.68%, 20.85%, 16.29%, and 5.63%, respectively. [ 139 ] [ 148 ] [ 149 ] [ 150 ] [ 151 ]


The ethnic roots of Tibetans can be traced back to a deep Eastern Asian lineage representing the indigenous population of the Tibetan plateau since c. 40,000 to 30,000 years ago, and arriving Neolithic farmers from the  Yellow River  within the last 10,000 years associated, and which can be associated with having introduced the  Sino-Tibetan languages . Modern Tibetans derive up to 20% from Paleolithic Tibetans, with the remaining 80% being primarily derived from Yellow River farmers. The present-day Tibetan gene pool was formed at least 5,100 years BP. [ 152 ] [ 153 ]


Tibetan males predominantly belong to the paternal lineage  D-M174  followed by lower amounts of  O-M175 . [ 154 ]


Tibetan females belong mainly to the Northeast Asian maternal haplogroups M9a1a, M9a1b, D4g2, D4i and G2ac, showing continuity with ancient middle and upper  Yellow River  populations. [ 155 ]


Linguistic and genetic evidence strongly suggests an early presence of Turkic peoples in eastern Mongolia. [ 156 ]  The genetic evidence suggests that the  Turkification  of Central Asia was carried out by  East Asian   dominant minorities  migrating out of Mongolia. [ 39 ]


Genetic data found that almost all modern Turkic-speaking peoples retained at least some shared ancestry associated with "Southern Siberian and Mongolian" (SSM) populations, supporting this region as the "Inner Asian Homeland (IAH) of the pioneer carriers of Turkic languages" which subsequently expanded into Central Asia. [ 157 ]


An  Ancient Northeast Asian  origin of the early Turkic peoples has been corroborated in multiple recent studies. Early and medieval Turkic groups however exhibited a wide range of both (Northern) East Asian and West Eurasian genetic origins, in part through long-term contact with neighboring peoples such as Iranian, Mongolic, Tocharian, Uralic and Yeniseian peoples, and others. [ 158 ] [ 159 ] [ 160 ] [ 161 ] [ 162 ] [ 163 ]


Common Y-DNA haplogroups in Turkic peoples are  Haplogroup N-M231  (found with especially high frequency among Turkic peoples living in present-day  Russia , especially among  Siberian Tatars , as Zabolotnie Tatars have one of the highest frequencies of this haplogroup, second only to  Samoyedic   Nganasans  ),  Haplogroup C-M217  (especially in  Central Asia , and in particular,  Kazakhstan , also in  Siberia  among  Siberian Tatars ),  Haplogroup Q-M242  (especially in  Southern Siberia  among the  Siberian Tatars , also quite frequent among  Lipka Tatars  and among  Turkmens  and the Qangly  tribe of Kazakhs ), and  Haplogroup O-M175  (especially among Turkic peoples living in present-day  China , the Naiman  tribe of Kazakhs  and  Siberian Tatars ). Some groups also have  Haplogroup R1b  (notably frequent among the  Teleuts ,  Siberian Tatars , and  Kumandins  of Southern Siberia, the  Bashkirs  of the Southern  Ural  region of  Russia , and the  Qypshaq   tribe of Kazakhs ),  Haplogroup R1a  (notably frequent among the  Kyrgyz ,  Altaians ,  Siberian Tatars ,  Lipka Tatars ,  Volga Tatars ,  Crimean Tatars  and several other Turkic peoples living in present-day Russia),  Haplogroup J-M172  (especially frequent among  Uyghurs ,  Azerbaijanis , and  Turkish people ), and  Haplogroup D-M174  (especially among  Yugurs , but also observed regularly with low frequency among  Southern Altaians ,  Nogais ,  Kazakhs , and  Uzbeks ). [ 164 ] [ 165 ]


The genetic evidence suggests that the  Turkification  of Central Asia was carried out by  East Asian   dominant minorities  migrating out of Mongolia. [ 166 ]  According to a recent study, the Turkic Central Asian populations, such as Kyrgyz, Kazakhs, Uzbeks, and Turkmens share more of their gene pool with various East Asian and Siberian populations than with West Asian or European populations. The study further suggests that both migration and linguistic assimilation helped to spread the Turkic languages in Eurasia. [ 167 ]


Genetic data suggests that  North Asia  was populated during the Terminal Upper-Paleolithic (36±1.5ka) period from a distinct Paleolithic population migrating through Central Asia into Northern Siberia. This population is known as  Ancient North Eurasians  or Ancient North Siberians, who were of West Eurasian origin.


Between 30,000 and 25,000 years ago, the ancestors of both Paleo-Siberians and Native Americans originated from admixture between  Ancient North Eurasians /Siberians and an Ancient East Asian lineage. [ 168 ] [ 169 ]  Ancestral Native Americans (or Ancient Beringians) later migrated towards the Beringian region, became isolated from other populations, and subsequently populated the Americas. Further geneflow from  Northeast Asia  resulted in the modern distribution of "Neo-Siberians" (associated with  Tungusic ,  Mongolic , and  Turkic  speakers) through the merger of Paleo-Siberians with Northeast Asians. [ 170 ] [ 171 ] [ 172 ]


A study found that the North Asian ethnic groups—Altai  Kazakh ,  Khanty ,  Komi  ( Zyrian ),  Mongols ,  Buryats ,  Dukha , and  Yakuts —are, on average, with the exception of the Komi, more closely related to East Asians than to Europeans, but still occupy a distinct position from the major East Asian populations (typified by Koreans, Japanese, and Han Chinese), who formed a very tight cluster. "Analyses of all 122 populations confirm many known relationships and show that most populations from North Asia form a cluster distinct from all other groups. Refinement of analyses on smaller subsets of populations reinforces the distinctiveness of North Asia and shows that the North Asia cluster identifies a region that is ancestral to Native Americans." [ 173 ]


Multiple studies suggests that all Native Americans ultimately descended from a single founding population that initially diverged from" Ancestral Beringians" which shared a common origin with Paleo-Siberians from the merger of Ancient North Eurasians and a Basal-East Asian source population in Mainland Southeast Asia around 36,000 years ago, at the same time at which the proper  Jōmon people  split from Basal-East Asians, either together or during a separate expansion wave. The basal northern and southern Native American branches, to which all other Indigenous peoples belong, diverged around 16,000 years ago, although earlier dates were also proposed. [ 58 ] [ 174 ]  An indigenous American sample from 16,000 BCE in  Idaho , which is craniometrically similar to modern Native Americans, was found to have been closely related to  Paleosiberians , confirming that Ancestral Native Americans split from an ancient Siberian source population somewhere in northeastern Siberia. Genetic data on samples with alleged "Paleo-Indian" morphology turned out to be closely related to contemporary Native Americans, disproving a hypothetical earlier migration into the Americas. The scientists suggest that variation within Native American morphology is just that, the natural variation which have arisen during the formation of Ancestral Native Americans. Signals of a hypothetical "population Y", if not a false positive, are likely explained through a now extinct population from East Asia (e.g.  Tianyuan man , which contributed low amounts of ancestry to the Ancestral Native American gene pool in Asia, and perhaps also towards other Asian and Oceanian populations. [ 175 ] [ 174 ] [ 176 ] [ 177 ] [ 178 ]


The genetic makeup of modern South Asians can be described as a combination of West Eurasian ancestries with divergent  East Eurasian ancestries . The latter primarily include an indigenous South Asian component (termed  Ancient Ancestral South Indians , short "AASI") that is distantly related to the  Andamanese peoples , as well as to  East Asians  and  Aboriginal Australians , and further include additional, regionally variable East/Southeast Asian components. [ 179 ] [ 7 ]  The East Asian-related ancestry component forms the major ancestry among  Tibeto-Burmese  and  Khasi-Aslian  speakers in the  Himalayan foothills  and  Northeast India , [ 180 ] [ 181 ]  and is generally distributed throughout South Asia at lower frequency, with substantial presence in  Mundari-speaking groups . [ 180 ] [ 181 ]


According to a genetic research (2015) including linguistic analyses, suggests an  East Asian  origin for proto-Austroasiatic groups, which first migrated to Southeast Asia and later into India. [ 182 ]  According to Ness, there are three broad theories on the origins of the Austroasiatic speakers, namely northeastern India, central or southern China, or southeast Asia. [ 183 ]  Multiple researches indicate that the Austroasiatic populations in India are derived from (mostly male dominated) migrations from Southeast Asia during the Holocene. [ 184 ] [ 182 ] [ 185 ] [ 186 ] [ 187 ] [ 188 ]  According to Van Driem (2007), "...the mitochondrial picture indicates that the Munda maternal lineage derives from the earliest human settlers on the Subcontinent, whilst the predominant Y chromosome haplogroup argues for a Southeast Asian paternal homeland for Austroasiatic language communities in India." [ 185 ] : 7


According to Chaubey et al. (2011), "Austroasiatic speakers in India today are derived from dispersal from Southeast Asia, followed by extensive sex-specific admixture with local Indian populations." [ 184 ]  According to Zhang et al. (2015), Austroasiatic (male) migrations from southeast Asia into India took place after the lates Glacial maximum, circa 4,000 years ago. [ 182 ]  According to Arunkumar et al. (2015), Y-chromosomal haplogroup O2a1-M95, which is typical for Austroasiatic speaking peoples, clearly decreases from Laos to east India, with "a serial decrease in expansion time from east to west," namely "5.7 ± 0.3 Kya in Laos, 5.2 ± 0.6 in Northeast India, and 4.3 ± 0.2 in East India." This suggests "a late Neolithic east to west spread of the lineage O2a1-M95 from Laos." [ 187 ] [ 189 ]  According to Riccio et al. (2011), the  Munda people  are likely descended from Austroasiatic migrants from southeast Asia. [ 186 ] [ 190 ]  According to Ness, the Khasi probably migrated into India in the first millennium BCE. [ 183 ]


According to Yelmen et al. 2019, the two main components of Indian genetic variation; the South Asian populations that "separated from East Asian and Andamanese populations" form one of the deepest splits among non-African groups compared to the West Eurasian component because of "40,000 years of independent evolution". [ 191 ]


Geneflow from Southeast Asians (particularly Austroasiatic groups) to South Asian peoples is associated with the introduction of rice-agriculture to South Asia. There is significant cultural, linguistic, and political Austroasiatic influence on early India, which can also be observed by the presence of Austroasiatic loanwords within  Indo-Aryan languages . [ 192 ] [ 193 ]


A 2020 genetic study about Southeast Asian populations, found that mostly all Southeast Asians are closely related to East Asians and have mostly "East Asian-related" ancestry. [ 29 ] [ 195 ]


Ancient remains of hunter-gatherers in Maritime Southeast Asia, such as one Holocene hunter-gatherer from  South Sulawesi , had ancestry from both, an Australasian lineage (represented by Papuans and Aboriginal Australasians) and an "Ancient Asian" lineage (represented by East Asians or Andamanese Onge). The hunter-gatherer individual had approximately c. 50% "Basal-East Asian" ancestry and c. 50% Australasian/Papuan ancestry, and was positioned in between modern East Asians and Papuans of Oceania. The authors concluded that East Asian-related ancestry expanded from  Mainland Southeast Asia  into  Maritime Southeast Asia  much earlier than previously suggested, as early as 25,000 BCE, long before the expansion of  Austroasiatic  and  Austronesian  groups. [ 196 ]


A 2022 genetic study confirmed the close link between East Asians and Southeast Asians, which the authors term "East/Southeast Asian" (ESEA) populations, and also found a low but consistent proportion of South Asian-associated "SAS ancestry" (best samplified by modern  Bengalis  from  Dhaka, Bangladesh ) among specific Mainland Southeast Asian (MESA) ethnic groups (~2–16% as inferred by  qpAdm ), likely as a result of cultural diffision; mainly of South Asian merchants spreading Hinduism and Buddhism among the Indianized kingdoms of Southeast Asia. The authors however caution that Bengali samples harbor detectable East Asian ancestry, which may affect the estimation of shared haplotypes. Overall, the geneflow event is estimated to have happened between 500 and 1000 YBP. [ 197 ]


Melanesians  and  Aboriginal Australians  are deeply related to East Asians. Genetic studies have revealed that Australasians descended from the same Eastern Eurasian source population as East Asians and indigenous South Asians (AASI). [ 7 ]


The  genetic history of  Egypt  reflects its geographical location at the crossroads of several major biocultural areas:  North Africa , the  Sahara , the  Middle East , the  Mediterranean  and  sub-Saharan Africa .


Egyptologist   Barry Kemp  has noted that DNA studies can only provide firm conclusions about the population of ancient Egypt if the sample results are of a significant number of individuals and represent a broad geographical and chronological range. [ 1 ]  According to historian William Stiebling and archaeologist Susan N. Helft, conflicting DNA analysis on recent genetic samples such as the  Amarna royal mummies  has led to a lack of consensus on the genetic makeup of the ancient Egyptians and their geographic origins. [ 2 ]


In 2012, two mummies of two  20th dynasty  individuals,  Ramesses III  and "Unknown Man E" believed to be Ramesses III's son  Pentawer , were analyzed by Albert Zink, Yehia Z Gad, and a team of researchers under  Zahi Hawass . Genetic kinship analyses revealed identical  haplotypes  in both mummies; using the Whit Athey's haplogroup predictor, the Y chromosomal haplogroup  E1b1a  was predicted. [ 3 ]


In another study by the same authors in 2020, which once again deals with the paternal lineage of Ramesses III and the "Unknown Man E" (possibly Pentawer),  E1b1a  shows its highest frequencies in modern  West African  populations (~80%) and  Central Africa  (~60%). [ 4 ]


A study published in 2017 by Schuenemann et al. extracted DNA from 151 Egyptian mummies, whose remains were recovered from Abusir el-Meleq in Middle Egypt. The samples are from the time periods: Late  New Kingdom , Ptolemaic, and  Roman . Complete  mtDNA  sequences from 90 samples as well as  genome -wide data from three ancient Egyptian individuals were successfully obtained and were compared with other ancient and modern datasets. The study used 135 modern Egyptian samples. The ancient Egyptian individuals in their own dataset possessed highly similar mtDNA haplogroup profiles, and cluster together, supporting genetic continuity across the 1,300-year transect. Modern Egyptians shared this mtDNA haplogroup profile, but also carried 8% more African component. A wide range of mtDNA haplogroups was found including clades of J, U, H, HV, M, R0, R2, K, T, L, I, N, X and W. In addition three ancient Egyptian individuals were analysed for  Y-DNA , two were assigned to  Middle Eastern  haplogroup  J  and one to haplogroup  E1b1b1a1b2 . Both of these haplogroups are carried by modern Egyptians, and also common among  Afroasiatic speakers  in Northern Africa, Eastern Africa and the Middle East. The researchers cautioned that the examined ancient Egyptian specimens may not be representative of those of all ancient Egyptians since they were from a single archaeological site from the northern part of Egypt. [ 5 ]  The analyses revealed that Ancient Egyptians had higher affinities with Near Eastern and European populations than modern Egyptians do, likely due to the 8% increase in the African component found in modern Egyptians. [ 5 ]  However, comparative data from a contemporary population under  Roman rule in Anatolia , did not reveal a closer relationship to the ancient Egyptians from the Roman period. [ 5 ]  "Genetic continuity between ancient and modern Egyptians cannot be ruled out despite this more recent sub-Saharan African influx, while continuity with modern Ethiopians is not supported". [ 5 ]


The absolute estimates of sub-Saharan African ancestry in these three ancient Egyptian individuals ranged from 6 to 15%, and the absolute estimates of sub-Saharan African ancestry in the 135 modern Egyptian samples ranged from 14 to 21%, which show an 8% increase in African component. The age of the ancient Egyptian samples suggests that this 8% increase in African component occurred predominantly within the last 2000 years. [ 5 ]  The 135 modern Egyptian samples were: 100 from modern Egyptians taken from a study by Pagani et al., and 35 from el-Hayez Western Desert Oasis taken from a study by Kujanova et al. [ 5 ]  The 35 samples from el-Hayez Western Desert Oasis, whose population is described by the Kujanova et al. study as a mixed, relatively isolated, demographically small but autochthonous population, were already known from that study to have a relatively high sub-Saharan African component, [ 6 ]  which is more than 11% higher than the African component in the 100 modern Egyptian samples. [ 7 ]


Verena Schuenemann and the authors of this study suggest a high level of genetic interaction with the  Near East  since ancient times, probably going back to  Prehistoric Egypt  although the oldest mummies at the site were from the New Kingdom: "Our data seem to indicate close admixture and affinity at a much earlier date, which is unsurprising given the long and complex connections between Egypt and the Middle East. These connections date back to Prehistory and occurred at a variety of scales, including overland and maritime commerce, diplomacy, immigration, invasion and deportation". [ 5 ]


The 2017 study has generated academic responses from scholars from other related disciplines, remarking on the conclusions of the study from a  multi-disciplinary  approach.


In 2020, Stuart Tyson Smith, professor of anthropology at UC Santa Barbara, stated: "Additionally, they are oblivious to the fact that the mouth of the  Faiyum Oasis , where the sample was located, is well known, through historical documents, as an area where Middle Eastern people, like the  Sherden , were settled as a reward for military service, during the late New Kingdom, about 1300 to 1070 BCE. This provides a far more likely explanation for any stronger affinity to Middle Eastern populations, and weaker ties to Sub-Saharan populations than modern Egyptians in their sample, but was not even considered." [ 12 ]


In 2021, Gourdine et al disputed Scheunemann et al's claim, in an unpublished article, that the increase in the sub-Saharan component in the modern Egyptian samples resulted from the trans-Saharan slave trade. Instead they argued that the sub-Saharan "genetic affinities" may be attributed to "early settlers" and "the relevant sub-Saharan genetic markers do not correspond with the geography of known trade routes". [ 13 ]


In 2022, biological anthropologist S.O.Y. Keita argued that there were problems with the study's approaches and conclusions such as over-generalizations and a failure to consider alternative explanations. Particularly, he raised issues with the comparative samples from West Africa as a proxy group and generalisations about geographical Egypt and population origins from the sample results. He also drew attention to the fact that the authors draw inference on migrations in line with their  Bayesian  statistical approach rather than integrate other data into their explanations about the population history. [ 14 ]


In 2022, archaeologist Danielle Candelora stated that there were several limitations with the 2017 Scheunemann et al. study such as “new (untested) sampling methods, small sample size and problematic comparative data”. [ 15 ]


In 2023, Stiebling and Helft acknowledged that the 2017 study had performed the largest study on ancient Egyptians but noted that the findings still derived from a small sample of mummies from one site in Middle Egypt dating to the New Kingdom and later periods. They also stated that this study could not represent earlier populations or Egyptians from Upper Egypt who were geographically closer to Sub-Saharan populations. [ 2 ]


In 2023,  Christopher Ehret  argued that the conclusions of the 2017 study were based on insufficiently small sample sizes, and that the authors had a biased interpretation of the genetic data. [ 16 ]  Ehret also criticised the Schuenemann article  for asserting that there was “no sub-Saharan genetic component” in the Egyptian population and cited previous genetic analysis which had identified the  Horn of Africa  as the origin of the  E-M35  paternal haplogroup. [ 17 ]


A 2020 study was conducted on ancient samples from Lebanon. Two individuals who lived in Lebanon around 500 BCE did not cluster with their contemporary Lebanese population. The study used the same Egyptian samples from the 2017 Schuenemann et al. study to further test these two individuals. One of these two individuals was a female who formed a clad with the three ancient Egyptian individuals from Schuenemann et al., implying that she shared all of her ancestry with them or a genetically equivalent population. The other one was a male who derived ~70% of his ancestry from a population related to the female and ~30% from a population related to ancient Levantines. Further testing suggests that the female was an Egyptian woman and the male was her son from a man who himself had both Egyptian and Lebanese ancestries. [ 18 ]


The tomb of two high-status Egyptians, Nakht-Ankh and Khnum-Nakht, was discovered by Egyptian workmen directed by Sir William  Flinders Petrie  and  Ernest Mackay  in 1907. Nakht-Ankh and Khnum-Nakht lived during the  12th Dynasty  (1985–1773 BCE) in Middle Egypt and were aged 20 years apart. Their tomb has been called  Tomb of Two Brothers  because the mummies were buried adjacent to one other and inscriptions on the coffins mention the female name Khnum-Aa, who is described as 'lady of the house' and referred to as the mother of both Nakht-Ankh and Khnum-Nakht. The Y-chromosome sequences were not complete, but the Y-chromosome  SNPs  indicated that they had different fathers, suggesting that they were half-brothers. The SNP identities were consistent with mtDNA haplogroup M1a1 with 88.05–91.27% degree of confidence, thus "confirming the African origins of the two individuals" according to the study authors, based on their maternal lineage. [ 19 ] [ 20 ]


In 2018 the mummified head of  Djehutynakht  was analysed for mitochondrial DNA. Djehutynakht was the  nomarch  of the  Hare nome  in Upper Egypt during the 11th or 12th Dynasty in the early  Middle Kingdom  period, c. 2000 BC. Two laboratories independently analysed Djehutynakht's DNA and found that he belonged to the mtDNA haplogroup U5b2b5, [ 21 ]  described by the lead author Odile Loreille as "a European haplogroup". [ 22 ]   U5  is thought to have originated in Europe, [ 23 ] [ 24 ]  and U5b2b5 has been found in ancient European samples dating from the Neolithic onwards. [ 25 ] [ 26 ] [ 27 ]  U5b2b5 has also been found in 10 samples from Christian Period  Nubia , [ 28 ]  and a related European sequence (U5b2c1) has been observed in an ancient sample from  Carthage  (6th century BC). [ 21 ] [ 23 ]  Among ancient Egyptian samples the Djehutynakht sequence resembles a U5a lineage from sample JK2903, a 2000-year-old skeleton from the Abusir el-Meleq site in Egypt. [ 5 ]  Haplogroup U5 is found in modern Egyptians, [ 29 ] [ 30 ]  and is found in modern Egyptian  Berbers  from the  Siwa Oasis  in Egypt. A 2009 study by Coudray et al. recorded haplogroup U5 at 16.7% in the Siwa Oasis in Egypt, whereas haplogroup U6 is more common in other Berber populations to the west of Egypt. [ 31 ]


A study on male child mummies from the Greco-Roman period originating in the Memphite or Luxor area, revealed that the mtDNA for one was T2c1a and the other HV. Identical or phylogenetically close derivatives of these lineages are present in both ancient and modern Egyptians, as well as among several present-day populations of the Near East and North Africa. The researchers noted that mtDNA alone is not enough to reach any precise conclusion about the origin of an individual, but the results are in accordance with an Egyptian origin. The ages of the two mummified corpses ranged from 11–15 years old, and 2–4 years old. [ 32 ]


A 2020 study by Gad, Hawass, et al. analysed mitochondrial and Y-chromosomal haplogroups from  Tutankhamun 's family members of the 18th Dynasty, using comprehensive control procedures to ensure quality results. The study found that the Y-chromosome haplogroup of the family was  R1b . [ 4 ] [ 33 ]  Haplogroup R1b is carried by modern Egyptians. [ 4 ]  Modern Egypt is also the only African country that is known to harbor all three R1 subtypes, including  R1b-M269 . [ 34 ]  The Y-chromosome profiles for Tutankhamun and Amenhotep III were incomplete and the analysis produced differing probability figures despite having concordant  allele  results. Because the relationships of these two mummies with the KV55 mummy (identified as  Akhenaten ) had previously been confirmed in an earlier study, the haplogroup prediction of both mummies could be derived from the full profile of the KV55 data. [ 4 ]  Genetic analysis indicated the following haplogroups for the 18th Dynasty:


Both Y-DNA haplogroups R1b and G2a, as well as both mtDNA haplogroups H and K, are carried by modern Egyptians. [ 4 ]


In 2020 the mummy of  Takabuti  was tested for mitochondrial DNA. Takabuti was a noblewoman from Thebes in Upper Egypt who lived during the  25th Dynasty , c. 660 BC. Analysis of her DNA revealed that she belonged to the mtDNA haplogroup H4a1. [ 35 ]  The study states that “the H super-haplogroup is the most common mtDNA lineage in Europe and is found also in parts of present-day Africa and western Asia”. [ 35 ]  Haplogroup H is also carried by modern Egyptians, the subgroup H4 in particular, along with H2a1 and H13a1, account for 42% of H lineages in modern Egypt, with H4 accounting for 16.7% of H lineages in modern Egypt. [ 36 ]


In 2020, three mummies, dating from the 1st millennium BCE, from the Pushkin Museum of Arts collection were tested at the  Kurchatov Institute  of Moscow for their mitochondrial and Y-chromosomal haplogroups. One of the mummies was found to belong to the Y-chromosomal haplogroup  R1b1a1b (R1b-M269) , [ 37 ]  which originated in Eastern Europe, and another to the Y-chromosome haplogroup  E1b1b1a1b2a4b5a , [ 37 ]  which originated in North Africa. [ 38 ] [ 5 ] [ 39 ]  They also belonged to mtDNA haplogroups L3h1 and N5, common in Africans and Middle Easterners, respectively. The third mummy was found to belong to mtDNA haplogroup N, which is widely distributed across Eurasia as well as eastern and northeastern Africa. [ 37 ]


In a comment on Hawas et al. (2010 [ 40 ] & 2012 [ 3 ] ), the anthropologist S.O.Y. Keita pointed out, based on inserting the data into the PopAffiliator online calculator, which only calculates affinity to East Asia, Eurasia, and sub-Saharan Africa, but not to North Africa or the Near East, for instance, [ 41 ]  that Ramesses III and the Amarna ancient royal family (including Tutankhamun) showed "an affinity with sub-Saharan Africans in one affinity analysis, which does not mean that they lacked other affiliations — an important point that typological thinking obscures. Also, different data and algorithms might give different results, which would illustrate the complexity of biological heritage and its interpretation." [ 42 ]


Genetic  analysis of modern Egyptians reveals that they have  paternal   lineages  common to other indigenous  Afroasiatic  speaking populations in  North Africa ,  West Asia ,  Anatolia  and  Horn of Africa ; Some studies have proposed the view that these lineages would have spread into  North Africa  and  Horn of Africa  from Western Asia during the  Neolithic Revolution  and were maintained by the  predynastic period . [ 43 ] [ 44 ]


A study by Krings et al. (1999) on  mitochondrial DNA   clines  along the Nile Valley found that a  Eurasian  cline runs from  Northern Egypt  to  Southern Sudan  and a Sub-Saharan cline from Southern Sudan to Northern Egypt, derived from a sample size of 224 individuals (68 Egyptians, 80 Nubians, 76 southern Sudanese). The study also found Egypt and Nubia have low and similar amounts of divergence for both mtDNA types, which is consistent with historical evidence for long-term interactions between Egypt and Nubia. However, there are significant differences between the composition of the mtDNA gene pool of the Egyptian samples and that of the Nubians and Southern Sudanese samples. The diversity of the Eurasian mtDNA type was highest in Egypt and lowest in southern Sudan, whereas the diversity of the sub-Saharan mtDNA type was lowest in Egypt and highest in southern Sudan. The authors suggested in their conclusion that  Egypt  and  Nubia  had more genetic contact than either did with southern Sudan and that the migration from north to south was either earlier or lesser in the extent of gene flow than the migration from south to north. [ 45 ]


A study by Luis et al. (2004) found that the male haplogroups in a sample of 147 Egyptians were  E1b1b  (36.1%, predominantly  E-M78 ),  J  (32.0%),  G  (8.8%),  T  (8.2%), and  R  (7.5%). [ 34 ]  The study found that "Egypt's NRY frequency distributions appear to be much more similar to those of the Middle East than to any sub-Saharan African population, suggesting a much larger Eurasian genetic component ... The cumulative frequency of typical sub-Saharan lineages (A, B, E1b1a) is 3.4% in Egypt ... whereas the haplogroups of Eurasian origin (Groups C, D, and F–Q) account for 59% [in Egypt]." [ 34 ]  E1b1b subclades are characteristic of some  Afro-Asiatic  speakers and are believed to have originated in either the  Middle East ,  North Africa , or the  Horn of Africa . [ 34 ] [ 46 ] [ 47 ]  Cruciani et al. (2007) suggests that E-M78, E1b1b predominant subclade in Egypt, originated in Northeastern Africa (Egypt and Libya in the study), with a corridor for bidirectional migrations between northeastern and eastern Africa (at least 2 episodes between 23.9 and 17.3 ky and 18.0–5.9 ky ago), trans-Mediterranean migrations directly from northern Africa to Europe (mainly in the last 13.0 ky), and flow from northeastern Africa to western Asia between 20.0 and 6.8 ky ago. Cruciani et al. proposed that E-M35, the parent clade of E-M78, originated in Eastern Africa during the Palaeolithic and subsequently spread to Northeastern Africa, 23.9–17.3 ky ago. Cruciani et al. also state that the presence of E-M78 chromosomes in Eastern Africa can be only explained through a back migration of chromosomes that had acquired the M78 mutation in Northeast Africa. [ 47 ]


Other studies have shown that modern  Egyptians  have genetic affinities primarily with populations of  North Africa  and the  Middle East , [ 44 ] [ 43 ]  and to a lesser extent the  Horn of Africa  and  European  populations. [ 48 ] [ 49 ]  Another study states that "the information available on individual groups in Ethiopia and North Africa is fairly limited but sufficient to show that they are all separate from sub-Saharan Africans and that North Africans and East Africans (such as Ethiopians) are clearly separate", and concluded that most Ethiopians came from an admixture and that the larger fraction of  Sub-Saharan  genes came during the Neolithic times "before the beginning of the Egyptian civilisation". [ 50 ]  The study also found the gene frequency of North African populations and, to a lesser extent, East Africa to be intermediate between  Africa  and  Europe . [ 51 ]
In addition, some studies suggest ties with populations in the  Middle East , as well as some groups in southern  Europe , [ 43 ]  and a closer link to other North Africans. [ 44 ]


A 2004 mtDNA study of 58 upper Egyptian individuals included 34 individuals from  Gurna , a small settlement on the hills opposite Luxor. The 34 individuals from Gurna exhibited the haplogroups:  M1  (6/34 individuals, 17.6%), H (5/34 individuals, 14.7%), L1a (4/34 individuals, 11.8%) and U (3/34 individuals, 8.8%). The M1 haplotype frequency in Gurna individuals (6/34 individuals, 17.6%) is similar to that seen in  Ethiopian  population (20%), along with a West Eurasian component different in haplogroup distribution in the Gurna individuals. However, the M1 haplotypes from Gurna individuals exhibited a mutation that is not present in Ethiopian population; whereas this mutation was present in non-M1 haplotype individuals from Gurna. Nile Valley Egyptians do not show the characteristics that were shown by the Gurna individuals. The results of the study suggested that the sample of Gurna individuals had retained elements of an ancestral genetic structure from an ancestral  East African  population, characterized by a high M1 haplogroup frequency. [ 49 ]  Another 2004 mtDNA study featured the Gurna individuals samples, and clustered them together with the  Ethiopian  and  Yemeni  groups, in between the Near Eastern and other African sample groups. [ 52 ]


A 2005 genetic study found close affinities of eastern sub-Saharan populations with Egypt in the phylogenetic trees through analysis of the short DNA sequences. The authors suggested that the influential role of the Nile River served as a migratory route and an agent of genetic flow which contributed to present-day  heterogeneity  in Egypt. [ 53 ]


Though there has been much debate of the origins of haplogroup M1 a 2007 study had concluded that M1 has  West Asia  origins not a Sub Saharan African origin, although the majority of the M1a lineages found outside and inside Africa had a more recent  East African  origin, as a result of "the first M1 backflow [from Asia] to Africa, dated around 30,000 [years ago]". The study states that "the most ancient dispersals of M1 occurred in northwestern Africa, reaching also the Iberian Peninsula, instead of Ethiopia", and states that the evidence points to either "that the Near East was the most probable origin of the primitive M1 dispersals, West into Africa and East to Central Asia ... [with] the  Sinai Peninsula  as the most probable gate of entrance of this backflow to Africa" or "that M1 is an autochthonous North African clad that had its earliest spread in northwestern areas marginally reaching the Near East and beyond". [ 54 ]


However, other authors have proposed the view that the M haplogroup developed in  Africa  before the 'Out of Africa' event around 50,000 years ago, and dispersed from  North Africa  or  East Africa  10,000 to 20,000 years ago. Quintana-Murci et al. stated in reference to the M haplogroup that "Its variation and geographical distribution suggest that Asian haplogroup M separated from eastern-African haplogroup M more than 50,000 years ago. Two other variants (489C and 10873C) also support a single origin of haplogroup M in Africa". [ 55 ] [ 56 ]


A 2003 Y-chromosome study was performed by Lucotte on modern Egyptians, with haplotypes V, XI, and IV being most common. Haplotype V is common among all  North Africans  and has a low frequency outside the North African region. Haplotypes V, XI, and IV are all predominantly North African/ Horn of African / Sub-Saharan African  (related to  Bantu expansion ) haplotypes, respectively, and they are far more dominant in Egyptians than in Middle Eastern or European groups. [ 57 ] [ 58 ]  The pattern of diversity for these variants in the Egyptian Nile Valley was largely the product of population events that occurred in the late Pleistocene to mid-Holocene through the  First Dynasty . [ 57 ]


Keita (2008) examined a published Y-chromosome dataset on Afro-Asiatic populations and remarked that a key subclade of E-M35, namely the key lineage  E-M78 , was shared between the populations in the locale of original Egyptian speakers and modern Cushitic speakers from the Horn of Africa. These lineages are present in modern Egyptians, Berbers, Cushitic speakers from the Horn of Africa, and Semitic speakers in the Near-East. He noted that variants are also found in the Aegean and Balkans. The origin of E-M35 was in East Africa, whereas the origin of its subclade mutation E-M78 was in Northeast Africa (the area of Egypt and Libya). [ 38 ]  This parent clade and its subclade mutations in general were dominant in a core portion of Afro-Asiatic speaking populations which included  Cushitic ,  Egyptian ,  Berber  groups, and Semitic speakers from the Near East, where Semitic speakers showed a decline in frequency going west to east in the Levantine-Syria region. He concluded that "the genetic data give population profiles that clearly indicate males of African origin, as opposed to being of Asian or European descent" but acknowledged that the biodiversity does not indicate any specific set of skin colors or facial features as populations were subject to microevolutionary pressures. [ 59 ]


Babiker, H et al. (2011) examined the genotypes of 15  STRs  for 498 individuals from 18 Sudanese populations and featured comparative genotype data with Egypt, Somalia and the Karamoja population from Uganda. Overall, the results showed that the genotypes of individuals from northern Sudan clustered with those of Egypt, the Somali population was found to be genetically distinct and individuals from southern Sudan clustered with those from the Karamoja population. The study determined that similarity of the Nubian and Egyptian populations suggested that migration, potentially bidirectional, occurred along the Nile river Valley, which is consistent with the historical evidence for long-term interactions between Egypt and Nubia. [ 60 ]


An allele frequency comparative study led by the Egyptian Army Major General Doctor Tarek Taha conducted  STR analysis  in 2020 between the two main Egyptian ethnic groups, Muslims and Christians, each group represented by a sample of 100 unrelated healthy individuals, supported the conclusion that Egyptian Muslims and Egyptian Christians genetically originate from the same ancestors. [ 61 ]


A Nov 2023 study by Hammarén et al isolated the non-african parts of the genomes of modern day northeast Africans found that Sudanese Copts and Egyptian muslims from  Cairo  bore most similarities to Levantines, unlike other populations in the region which had predominant genetic contributions from the Arabian peninsula rather than Levant for their Non-African genetic component. The study also found that Egyptian muslims and Sudanese Copts are genetically most similar to Middle Eastern groups rather than the other African populations, they estimated the admixture date for modern Egyptians with Eurasians to have occurred around the 14th century, however the authors noted that "most, if not all, of the populations in this study have or have had admixture with populations from the Middle East during the Arab expansion, and this newer admixture is obscuring older admixture patterns". The study overall points that the distribution of Eurasian ancestry in modern Eastern and Northeast Africa is the result of more recent migrations, many of which are recorded in historical texts rather than ancient one. [ 62 ]


A study by Arredi et al., which analyzed 275 samples from five populations in  Algeria ,  Tunisia , and  Egypt , as well as published data from  Moroccan  populations, suggested that the  North African  pattern of Y-chromosomal variation, including in Egypt, is largely of Neolithic origin. The study analyzed North African populations, including North Egyptians and South Egyptians, as well as samples from southern Europe, the Middle East, and sub-Saharan Africa, and revealed the following conclusions about the male-lineage variation in North Africa: "The lineages that are most prevalent in North Africa are distinct from those in the regions to the immediate north and south: Europe and sub-Saharan Africa ... two haplogroups predominate within North Africa, together making up almost two-thirds of the male lineages: E3b2 and J* (42% and 20%, respectively). E3b2 is rare outside North Africa, and is otherwise known only from Mali, Niger, and Sudan to the immediate south, and the Near East and Southern Europe at very low frequencies. Haplogroup J reaches its highest frequencies in the Middle East". [ 44 ]


A study by Lucotte using the  Y-chromosome  of 274 male individuals (162 from  Lower Egypt , 66 from  Upper Egypt , 46 from  Lower Nubia ) found that the main haplotype V has higher frequency in the North than in the South, and haplotype XI has higher frequency in the South than in the North, whereas haplotype IV is found in the South (highest in Lower Nubia). The study states that haplotype IV is also characteristic of  Sub-Saharan  populations. [ 58 ]  Remarking on Lucotte's Y-chromosome study, which found that haplotypes V, XI, and IV are most common, Keita states that "a synthesis of evidence from archaeology, historical linguistics, texts, distribution of haplotypes outside Egypt, and some demographic considerations lends greater support to the establishment, before the Middle Kingdom, of the observed distributions of the most prevalent haplotypes V, XI, and IV. It is suggested that the pattern of diversity for these variants in the Egyptian Nile Valley was largely the product of population events that occurred in the late Pleistocene to mid-Holocene through the  First Dynasty ". [ 57 ]  Keita later states "Later, mid-Holocene climatic-driven migrations led to a major settlement of the valley in  Upper Egypt  and  Nubia , but less so in  Lower Egypt , by diverse  Saharans  with haplotypes IV, XI, and V. These people fused with the indigenous valley peoples, as did  Near Easterners  with VII and VIII, but perhaps also some V". [ 65 ]


In 2005, based on review of Lucotte's and other published studies dealing with the contemporary Y-Chromosome variation in Egypt, Keita stated haplotype V, should be more appropriately called “Horn-supra-saharan African" and is indigenous to Africa, with the haplotypes V, XI and IV all associated with the M35/215 subclade. [ 66 ]  Keita and Boyce concluded: "There was no wholesale population replacement. This is not especially surprising because there is no evidence that the earliest Arabic-speakers, who came as teachers of Islam, intended to replace the indigenous populations biologically." They further elaborated that “The peoples of the Egyptian and northern Sudanese Nile valley, and supra-Saharan Africa now speak Arabic in the main, but as noted, this largely represents language shift. Ancient Egyptian is Afroasiatic, and current inhabitants of the Nile Valley should be understood as being in the main, although not wholly, descendants of the pre-Neolithic regional inhabitants, although this apparently varies by geography, as indicated by the frequency of Near Eastern haplotypes/lineages.” [ 66 ]


The major downstream mutations within the M35 subclade are M78 and M81. There are also other M35 lineages, e.g., M123. In Egypt, haplotypes VII and VIII are associated with the J haplogroup, which is predominant in the Near East. [ 57 ]


(M123, M34)


In 2009 mitochondrial data was sequenced for 277 unrelated Egyptian individuals [ 68 ]  by Jessica L Saunier et al. in the journal  Forensic Science International , as follows


including M (6.9%)


Mohamed, T et al. (2009) in their study of nomadic Bedouins featured a comparative study with a worldwide population database and a sample size of 153 Bedouin males. Their analysis discovered that both Muslim Egyptians and Coptic Christians showed a distinct North African cluster at 65%. This is their predominant ancestral component, and unique to the geographic region of Egypt. [ 69 ]


In a 2019 study that analyzed the autosomal make-up of 21 modern North African genomes and other populations using Ancient DNA reference populations, this sample of Egyptian genomes were found to share more affinity with Middle Eastern populations compared to other North Africans. Egyptians carry more of the Caucasus hunter gatherer / Iran Neolithic component compared to other North Africans, more of the  Natufian  related component and less of the  Iberomaurusian  related component than other North Africans, and also less of the Steppe / European hunter gatherer component, consistent with Egypt's geographical proximity to southwest Asia. [ 70 ]


A Y-DNA sample of Copts from Egypt was analyzed in Éric Crubézy et al. 2010. The Y-DNA profile was:


Cruzby further added that “The haplotype E1b1 has a fairly wide distribution across Africa, but never had been described with such frequency in this area”. He also noted that  Ethiopia  was one of the areas in the world where the haplotype was most common. Cruzby suggested that this shared lineage could be attributed to the contacts between Coptic Christian communities in both Egypt and Ethiopia although the overlaps between the religious communities were rare. [ 71 ]


According to Y-DNA analysis by Hassan et al. (2008), 45% of  Copts in Sudan  (of a sample of 33) carry  haplogroup J1 . Next most common was  E1b1b , the most common haplogroup in  North Africa . Both paternal lineages are common among other regional  Afroasiatic -speaking populations, such as  Beja ,  Ethiopians , and  Sudanese Arabs , as well as non-Afroasiatic-speaking Nubians. [ 72 ]  E1b1b reaches its highest frequencies among  North African  and  Horn of Africa  populations such as  Amazighs  and  Somalis . [ 73 ]  The next most common haplogroups borne by Copts are  R1b  (15%), most common in Europe, and the widespread African  haplogroup B  (15%). According to the study, the presence of  haplogroup B  may also be consistent with the historical record in which southern Egypt was colonized by Nilotic populations during the early state formation. [ 72 ]


Maternally, Hassan (2009) found that the majority of Copts in Sudan (of a sample of 29) carried descendants of the  macrohaplogroup N ; of these, haplogroup  U6  was most frequent (28%), followed by  T1  (17%). In addition, Copts carried 14%  M1  and 7%  L1c . [ 74 ]


A 2015 study by Dobon et al. identified an ancestral autosomal component of West Eurasian origin that is common to many modern Afroasiatic-speaking populations in Northeast Africa. Known as the  Coptic  component, it peaks among Egyptian Copts who settled in Sudan over the past two centuries, they also formed a separated group in  PCA , a close outlier to other Egyptians, Afroasiatic-speaking Northeast Africans and Middle East populations. The Coptic component evolved out of a main North African and Middle Eastern ancestral component that is shared by other Egyptians and also found at high frequencies among other Afroasiatic-speaking populations in Northeast Africa (~70%), who carry a Nilo-Saharan element as well. The scientists suggest that this points to a common origin for the general population of Egypt. [ 75 ]  They also associate the Coptic component with Ancient Egyptian ancestry, without the later Arabic influence that is present among other Egyptians, especially people of the  Sinai . [ 75 ]


In another 2017 study that genotyped and analyzed the same populations including Sudanese Copts and Egyptians, The ADMIXTURE analyses and the PCA displayed the genetic affinity of the Copts to the Egyptian population. Assuming few clusters, the Copts appeared admixed between Near Eastern/European populations and northeastern Sudanese and look similar in their genetic profile to the Egyptians. Assuming greater number of clusters (K≥18), the Copts formed their own separate ancestry component that was shared with Egyptians but can also be found in Arab populations. This behavior in the admixture analyses is consistent with shared ancestry between Copts and Egyptians and/or additional genetic drift in the Copts. The Egyptians and Copts showed low levels of genetic differentiation ( FST  = 0.00236), lower levels of genetic diversity and greater levels of RoH compared to other northeast African groups, including Arab and Middle Eastern groups that share ancestry with the Copts and Egyptians. A formal test did not find significant admixture into the Egyptians from other tested groups (X), and the Copts and Egyptians displayed similar levels of European or Middle Eastern ancestry (Copts were estimated to be of 69.54% ± 2.57 European ancestry, and the Egyptians of 70.65% ± 2.47 European ancestry). Taken together, these results point to that the Copts and the Egyptians have a common history linked to smaller population sizes, and that Sudanese Copts have remained relatively isolated since their arrival to Sudan with only low levels of admixture with local northeastern Sudanese groups. [ 76 ]


The ancestry of modern Iberians (comprising the  Spanish  and  Portuguese ) is consistent with the geographical situation of the  Iberian Peninsula  in the South-west corner of  Europe , showing characteristics that are  largely typical in Southern and Western Europeans. As is the case for most of the rest of Southern Europe, the principal ancestral origin of modern Iberians are  Early European Farmers  who arrived during the Neolithic. The large predominance of Y-Chromosome Haplogroup R1b, common throughout  Western Europe , is also testimony to a sizeable input from various waves of (predominantly male)  Western Steppe Herders  that originated in the  Pontic-Caspian Steppe  during the  Bronze Age . [ 2 ] [ 3 ]


Modern Iberians' genetic inheritance largely derives from the pre-Roman inhabitants of the Iberian Peninsula who were deeply  Romanized  after the conquest of the region by the  ancient Romans : [ 4 ] [ 5 ]


There are also some genetic influences from the  Alans  and  Germanic  tribes who arrived after the Roman period, including the  Suebi ,  Hasdingi   Vandals , and  Visigoths . [ 10 ] [ 11 ] [ 12 ]  Due to its position on the  Mediterranean Sea , like other  Southern European  countries, there were also contacts with other Mediterranean peoples such as the  Phoenicians ,  Ancient Greeks  and  Carthaginians  who briefly settled along Iberia's eastern and southern coasts, the  Sephardi Jewish  community, and  Berbers  and  Arabs  arrived during  Al-Andalus , all of them leaving some  North African  and  Middle Eastern  genetic influences, particularly in the south and west of the  Iberian Peninsula . [ 13 ] [ 14 ] [ 5 ] [ 15 ] [ 16 ] [ 17 ] [ 4 ]  Similar to  Sardinia , Iberia was slightly less impacted from the Hellenistic Eastern Mediterranean migrations by its western and southern geographic location, and thus has both lower levels of  Eastern Mediterranean  and higher ones of African admixture than  Italy  and  Greece , most of which probably arrived to Iberia during historic rather than prehistoric times, especially in the  Roman period . [ 18 ] [ 19 ]  Nevertheless over half of both Iberian and Sardinian Iron Age genetic profiles were replaced during the centuries long Punic, Roman Imperial and Islamic dominations, with only the Basques remaining largely uneffected. [ 20 ] [ 21 ] [ 22 ]


The foremost pioneer of the study of population genetics was  Luigi Luca Cavalli-Sforza . Cavalli-Sforza used  classical genetic markers  to analyse DNA by proxy. This method studies differences in the frequencies of particular allelic traits, namely  polymorphisms  from proteins found within  human blood  (such as the  ABO blood groups , Rhesus blood antigens,  HLA loci ,  immunoglobulins , G-6-P-D isoenzymes, among others). Subsequently, his team calculated  genetic distances  between populations, based on the principle that two populations that share similar frequencies of a trait are more closely related than populations that have more divergent frequencies of the trait. [ 23 ]