Genetic history of Africa

The peoples of Africa are characterized by regional genetic substructure and heterogeneity, depending on the respective ethno-linguistic identity, and, in part, explainable by the "multiregional evolution" of modern human lineages in various multiple regions of the African continent, as well as later admixture events, including back-migrations from Eurasia, of both highly differentiated West and East Eurasian components. Africans' genetic ancestry is largely partitioned by geography and language family, with populations belonging to the same ethno-linguistic groupings showing high genetic homogeneity and coherence. Gene flow, consistent with both short- and long-range migration events followed by extensive admixture and bottleneck events, have influenced the regional genetic makeup and demographic structure of Africans. The historical Bantu expansion had lasting impacts on the modern demographic make up of Africa, resulting in a greater genetic and linguistic homogenization. Genetic, archeologic, and linguistic studies added extra insight into this movement: "Our results reveal a genetic continuum of Niger–Congo speaker populations across the continent and extend our current understanding of the routes, timing and extent of the Bantu migration." Overall, different African populations display genetic diversity and substructure, but can be clustered in distinct but partially overlapping groupings: Afroasiatic-speaking populations also display variable amounts of West Asian (primarily Natufian-like, but also Neolithic Anatolian and Iranian) admixtures from Eurasian backflow movements, with the remainder being primarily from autochthonous African genetic clusters, associated with Nilotic-like ancestry. They also display affinity for the Paleolithic North African Taforalt specimens of the Iberomaurusian culture. • 'Eastern African hunter-gatherers', represented by Hadza, Sandawe, Omotic-speakers, and the ancient Mota specimen; their phylogenetic relationship to other populations is not clear, but they display affinity to modern East and West African populations, and harbor Khoesan-like geneflow along a Northeast to Southwest cline, as well as later (West) Eurasian admixtures, but at lower amounts than among Afroasiatic-speakers. • "Ancient East Africans" or "Ancestral West/East Africans" associated with the common ancestor of modern Niger-Congo and Nilo-Saharan-speakers originated around 28,000 years ago, likely in the Nile Valley region. They subsequently diverged at c. 18,000 years ago into the ancestors of West and West-Central African Niger-Congo and Bantu-speakers, and into the East African Nilo-Saharan/Nilotic-speakers. They represent the dominant and most widespreaded ancestry component of modern Africa, and are associated with relative recent population expansions linked to agriculture and pastoralist lifestyles. Genetic data indicates affinity for older hunter-gatherer groups in East Africa, but their exact relationship remains unclear. • Austronesian-speaking Malagasy people in Madagascar have received significant East/Southeast Asian admixture associated with the Austronesian expansion, with the remainder ancestry being primarily associated with West-Central and East African components. The estimated date of geneflow between these sources is c. 2,200 years ago. Indigenous Africans The term 'indigenous Africans' refers to the populations with primarily indigenous (non-Eurasian) ancestries, consisting of Niger–Congo speakers, Nilo-Saharan speakers, the divergent and diverse Khoisan grouping, as well as of several unclassified or isolated ethnolinguistic groupings (see unclassified languages of Africa). The origin of the Afroasiatic languages remains disputed, with some proposing a Middle Eastern origin, while others support an African origin with varying degrees of Eurasian and African components. The Niger–Congo languages probably originated in or near the area where these languages were spoken prior to Bantu expansion (i.e. West Africa or Central Africa). Its expansion may have been associated with the expansion of agriculture, in the African Neolithic period, following the desiccation of the Sahara in c. 3500 BCE. Proto-Niger-Congo may have originated about 10,000 years before present in the "Green Sahara" of Africa (roughly the Sahel and southern Sahara), and that its dispersal can be correlated with the spread of the bow and arrow by migrating hunter-gatherers, which later developed agriculture. Although the validity of the Nilo-Saharan family remains controversial, the region between Chad, Sudan, and the Central African Republic is seen as a likely candidate for its homeland prior to its dispersal around 10,000–8,000 BCE. The Southern African hunter-gatherers (Khoisan) are suggested to represent the autochthonous hunter-gatherer population of southern Africa, prior to the expansion of Bantu-speakers from Western/Central Africa and East African pastoralists. Khoisan show evidence for Bantu-related admixture, ranging from nearly ~0% to up to ~87.1%. Out-of-Africa event The "recent African origin of modern humans" proposes a "single origin" of Homo sapiens within Africa. Recent genetic and archeologic data suggests that Homo sapiens-subgroups originated in multiple regions of Africa, not confined to a single sub-region of origin, with the last common ancestor of all modern humans expanding from a single region absorbing or replacing various deep lineages (described as archaic ghosts). The H. sapiens ancestral to proper Eurasians most likely left Northeastern Africa between 50,000 and 100,000 years ago. The "recent African origin" model proposes that all modern non-African populations descend from one or several waves of H. sapiens that left Africa 70,000–60,000 years ago. According to Durvasula et al. (2020), there are indications that 2% to 19% (≃6.6 to 7.0%) of the DNA of West African populations may have come from an unknown archaic hominin which split from the ancestor of humans and Neanderthals between 360 kya to 1.02 mya. However, Durvasula et al. (2020) also suggests that at least part of this archaic admixture is also present in Eurasians/non-Africans, and that the admixture event or events range from 0 to 124 ka B.P, which includes the period before the Out-of-Africa migration and prior to the African/Eurasian split (thus affecting in part the common ancestors of both Africans and Eurasians/non-Africans). Chen et al. (2020) found that Africans have higher Neanderthal ancestry than previously thought. 2,504 African samples from all over Africa were analyzed and tested on Neanderthal ancestry. All African samples showed evidence for minor Neanderthal ancestry, but always at lower levels than observed in Eurasians. Geneflow between Eurasian and African populations Significant Eurasian admixture is found in Northern Africa, and among specific ethnic groups of the Horn of Africa, Northern Sudan, the Sahel region, as well as among the Malagasy people of Madagascar. Various genome studies found evidence for multiple prehistoric back-migrations from various Eurasian populations and subsequent admixture with native groups. West Eurasian-associated geneflow arrived to Northern Africa during the Paleolithic (30,000 to 15,000 years ago), followed by other pre-Neolithic and Neolithic migration events. Genetic data on the Taforalt samples "demonstrated that Northern Africa received significant amounts of gene-flow from Eurasia predating the Holocene and development of farming practices". Medieval geneflow events, such as the Arab expansion also left traces in various African populations. Pickrell et al. (2014) indicated that Western Eurasian ancestry eventually arrived through Northeast Africa (particularly the Horn of Africa) to Southeast Africa and Southern Africa. Ramsay et al. (2018) also found evidence for significant Western Eurasian admixture in various parts of Africa, from both ancient and more recent migrations, being highest among populations from Northern Africa, and some groups of the Horn of Africa: In addition to the intrinsic diversity within the continent due to population structure and isolation, migration of Eurasian populations into Africa has emerged as a critical contributor to the genetic diversity. These migrations involved the influx of different Eurasian populations at different times and to different parts of Africa. Comprehensive characterization of the details of these migrations through genetic studies on existing populations could help to explain the strong genetic differences between some geographically neighbouring populations. This distinctive Eurasian admixture appears to have occurred over at least three time periods with ancient admixture in central west Africa (e.g., Yoruba from Nigeria) occurring between ~7.5 and 10.5 kya, older admixture in east Africa (e.g., Ethiopia) occurring between ~2.4 and 3.2 kya and more recent admixture between ~0.15 and 1.5 kya in some east African (e.g., Kenyan) populations. Subsequent studies based on LD decay and haplotype sharing in an extensive set of African and Eurasian populations confirmed the presence of Eurasian signatures in west, east and southern Africans. In the west, in addition to Niger-Congo speakers from The Gambia and Mali, the Mossi from Burkina Faso showed the oldest Eurasian admixture event ~7 kya. In the east, these analyses inferred Eurasian admixture within the last 4000 years in Kenya. Others argue that the first speakers of Proto-Afroasiatic were based in Northeast Africa because that region includes the majority of the diversity of the Afroasiatic language family and has very diverse groups in close geographic proximity, which is sometimes considered a telltale sign for a linguistic geographic origin. A subset of the Proto-Afroasiatic population would have migrated to the Levant during the late Paleolithic, merging with local West-Eurasians and resulting in a population which would later give rise to Natufian culture, associated with the early development of agriculture and early Afroasiatic languages, or specifically pre-proto-Semitic. In addition, Y-haplogroup sub-lineage E-M215 (also known as "E1b1b) and its derivative E-M35 are quite common among Afroasiatic speakers, and southwestern Ethiopia is a plausible source of these haplogroups. Under this African model, the linguistic group and carriers of this lineage would have arisen and dispersed together from Northeast Africa in the Mesolithic, plausibly having already developed subsistence patterns of pastoralism and intensive plant usage and collection. The Near-Eastern agriculturalist hypothesis does not account for the domestication of plants endemic to the Horn of Africa such as teff, ensete, and Niger seed, nor does it account for the lack of evidence of intrusive agricultural populations or for the growing of wheat, barley, or sorghum in that region prior to 3000 B.C. According to historian and linguist Christopher Ehret, the form of intensive plant collection practiced by the Proto-Afroasiatic population in Northeast Africa may have been a precursor to the other agricultural practices that would later independently develop in the Fertile Crescent and the Horn of Africa. David Schoenbrun, Christopher Ehret, Steven A. Brandt and Shomarka Keita (2025) have highlighted the problematic categorisation of genetic haplogroups characterised as ‘African’ and ‘Eurasian' in North African genome studies. In reference to the van de Loosdrecht et al. 2018 study on the epipalaeolithic Taforalt remains from Morocco, which identified the EM35 (primarily EM78) common in north-eastern Africa but characterised the mtDNA (female lineage haplogroups) of U6 and M1 as 'Eurasian', the authors questioned the classification of these maternal haplogroups despite their localised and long-established presence in ancient African populations. In their view, identifying a range of African populations may still remain an issue “since the idea of ‘African’ still gets stereotyped or restricted. (Accepting the southwestern Asian/Levantine geographical continuity with Africa eliminates a conceptual barrier related to racio-typological thinking permitting an Africasian construct analogous to Eurasian.)”. Hodgson et al. (2014) found a distinct West-Eurasian ancestral component among studied Afroasiatic-speaking groups in the Horn of Africa (and to a lesser extent in North Africa and West Asia), most prevalent among the ethnic Somali. This ancestral component dubbed "Ethio-Somali" is most closely related to the "Maghrebi" (peaking in Tunisians) component and is believed to have diverged from other non-African ancestries around 23,000 years ago, and migrated back to Africa prior to developing agriculture (12–23 ka) from the Near East. This population would have crossed via the Sinai Peninsula and then split into two, with one branch continuing west across North Africa and the other heading south into the Horn of Africa. The authors propose that the "Ethio-Somali" component may have been a substantial ancestral component of the Proto-Afroasiatic-speaking population. Later migration from Arabia into the HOA beginning around 3 ka would explain the origin of the Ethiosemitic languages at this time. Hodgson et al. also confirmed the existence of an ancestral component indigenous to the Horn of Africa - "Ethiopic" or "Omotic" (Pagani et al.) - which is most prevalent among speakers of the Omotic branch of Afroasiatic in southwestern Ethiopia. Another 2004 mtDNA study featured samples from Gurna, Upper Egypt and clustered them together with the Ethiopian and Yemeni groups, in between the Near Eastern and other African sample groups. The E-M35 haplogroup subclade is found among all Afro-Asiatic speaking regions, with the M-78 clade now commonly thought to have arisen in either Sudan or Egypt, "or further south in the northeastern quadrant of Africa". In an analysis of 68 Ethiopian ethnic groups, Lopez et al. (2021) revealed that several groups belonging to the three AA classifications of Cushitic, Omotic and Semitic show high genetic similarity to each other on average. Furthermore, the Nilo-Saharan speakers in the southwest shared more recent ancestry with Bantu and Nilotics, in contrast Afro-Asiatic speakers in the northeast shared more recent ancestry with Egyptians and other West Eurasians. The data also supported widespread recent intermixing among various ethnic groups. Madagascar and the northern Philippines. Specific East Asian-related ancestry is found among the Malagasy speakers of Madagascar at a medium frequency. The presence of this East Asian-related ancestry is mostly linked to the Austronesian peoples expansion from Southeast Asia. The peoples of Borneo were identified to resemble the East Asian voyagers, who arrived on Madagascar. East Asian ancestry among Malagasy people was estimated at a mean average of 33%, but as high as ~75% among some Highlander groups and upper caste groups. Other haplogroups with a notable occurrence in the Egyptian populations have included the J and R haplogroups. 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. Dobon et al. (2015) identified an autosomal ancestral component that is commonly found among modern Afroasiatic-speaking populations (as well as Nubians) in Northeast Africa. This Coptic component peaks among Copts in Sudan, which is differentiated by its lack of Arab influence, but shares common ancestry with the North African/Middle Eastern populations. It appears alongside a component that defines Nilo-Saharan speakers of southwestern Sudan and South Sudan. Arauna et al. (2017), analyzing existing genetic data obtained from Northern African populations, such as Berbers, described them as a mosaic of North African (Taforalt), Middle Eastern, European (Early European Farmers), and Sub-Saharan African-related ancestries. Chen et al. (2020) analyzed 2,504 African samples from all over Africa, and found archaic Neanderthal ancestry, among all tested African samples at low frequency. They also identified a European-related (West-Eurasian) ancestry segment, which seems to largely correspond with the detected Neanderthal ancestry components. European-related admixture among Africans was estimated to be between ~0% to up to ~30%, with a peak among Northern Africans. According to Chen et al. (2020), "These data are consistent with the hypothesis that back-migration contributed to the signal of Neanderthal ancestry in Africans. Furthermore, the data indicates that this back-migration came after the split of Europeans and East Asians, from a population related to the European lineage." Multiple studies found also evidence for geneflow of African ancestry towards Eurasia, specifically Europe and the Middle East. The analysis of 40 different West-Eurasian populations found African admixture at a frequency of 0% to up to ~15%. Western Africa Hollfelder et al. (2021) concluded that West African Yoruba people, which were previously used as "unadmixed reference population" for indigenous Africans, harbor minor levels of Neanderthal ancestry, which can be largely associated with back-migration of an "Ancestral European-like" source population. Sahelian populations like the Toubou also showed admixture coming from Eurasians. Southern Africa Low levels of West Eurasian ancestry (European or Middle Eastern) are found in Khoe–Kwadi Khoesan-speakers. It could have been acquired indirectly by admixture with migrating pastoralists from East Africa. This hypothesis of gene flow from eastern to southern Africa is further supported by other genetic and archaeological data documenting the spread of pastoralism from East to South Africa. ==Regional genomic overview==

North Africa Archaic Human DNA While Denisovan and Neanderthal ancestry in non-Africans outside of Africa are more certain, archaic human ancestry in Africans is less certain and is too early to be established with certainty. Ancient DNA Daniel Shriner (2018), using modern populations as a reference, showed that the Natufians carried 61.2% Arabian, 21.2% Northern African, 10.9% Western Asian, and a small portion of Eastern African ancestry at 6.8%, which is associated with the modern Omotic-speaking groups found in southern Ethiopia. Djehutynakht (10A) carried maternal haplogroup U5b2b5. JK2888 carried maternal haplogroup U6a2. Ramesses III and "Unknown Man E", possibly Pentawere, carried paternal haplogroup E1b1a. JK2134 and JK2911 carried paternal haplogroup J. and YM:KMM A 63 carried maternal haplogroup HV. OM:KMM A 64 carried maternal haplogroup T2c1a. Genetic analysis of a modern Upper Egyptian population in Adaima by Eric Crubézy had identified genetic markers common across Africa, with 71% of the Adaima samples carrying E1b1 haplogroup and 3% carrying the L0f mitochondrial haplogroup. A secondary review, published in UNESCO General History of Africa Volume IX, in 2025 noted the results were preliminary and need to be confirmed by other laboratories with new sequencing methods. The genetic marker E1b1 was identified in a number of genetic studies to have wide distribution across Egypt, with "P2/215/M35.1 (E1b1b), for short M35, likely also originated in eastern tropical Africa, and is predominantly distributed in an arc from the Horn of Africa up through Egypt". Multiple STR analysis of the Amarna royal mummies (including Rameses III, Tutankhamun and Amenhotep III) were deployed to estimate their ethnicity have found they had strong affinities with modern Sub-Saharan populations. Nonetheless, these forms of analysis were not exhaustive as only 8 of the 13 CODIS markets were used. Libya At Takarkori rockshelter, in Libya, two naturally mummified women, dated to the Middle Pastoral Period (7000 BP), carried basal maternal haplogroup N. Morocco Van de Loorsdrecht et al. (2018) found that of seven samples of Taforalts of Morocco, radiocarbon dated to between 15,100 cal BP and 13,900 cal BP, six were found to carry maternal haplogroup U6a, and one was found to carry maternal haplogroup M1b. All six males were found to carry paternal haplogroup E1b1b, and they harbored 63.5% Natufian-related ancestry and 36.5% Sub-Saharan African-related ancestry. However, no present-day or ancient Holocene Sub-Saharan African group was found to be a good proxy for the non-Eurasian admixture component found in Taforalt individuals. Instead, Iosif Lazaridis et al. (2018) argued that this Iberomaurusian/Taforalt lineage contributed around 13% ancestry to modern West Africans "rather than Taforalt having ancestry from an unknown Sub-Saharan African source". Finally a study in 2025 by researchers from the Max Planck Institute for Evolutionary Anthropology in Leipzig discovered that the non-Eurasian ancestry found in Taforalt was from an ancestral lineage, native to North Africa that diverged there before the Out-of-Africa migration that gave rise to Eurasians, but never left Africa and became mostly isolated (both from sub-Saharan African and Eurasian groups). This North African lineage did "not carry sub-Saharan African ancestry, suggesting that, contrary to previous interpretations, the Green Sahara was not a corridor connecting Northern and sub-Saharan Africa." Autosomal DNA Medical DNA The genomes of Africans commonly found to undergo adaptation are regulatory DNA, and many cases of adaptation found among Africans relate to diet, physiology, and evolutionary pressures from pathogens. The Sub-Saharan West African Fulani, the North African Tuareg, and European agriculturalists, who are descendants of these Neolithic agriculturalists, share the lactase persistence variant –13910*T. Y-Chromosomal DNA Eight male individuals from Guinea Bissau, two male individuals from Niger, one male individual from Mali, and one male individual from Cabo Verde carried haplogroup A1a. As a result of haplogroup D0, a basal branch of haplogroup DE, being found in three Nigerian men, it may be the case that haplogroup DE, as well as its sublineages D0 and E, originated in Africa. As of 19,000 years ago, Africans, bearing haplogroup E1b1a-V38, likely traversed across the Sahara, from east to west. E1b1a1-M2 likely originated in West Africa or Central Africa. Mitochondrial DNA Around 18,000 BP, Mende people, along with Gambian peoples, grew in population size. In 15,000 BP, Niger-Congo speakers may have migrated from the Sahelian region of West Africa, along the Senegal River, and introduced L2a1 into North Africa, resulting in modern Mauritanian peoples and Berbers of Tunisia inheriting it. Between 11,000 BP and 10,000 BP, Yoruba people and Esan people grew in population size. Autosomal DNA During the early period of the Holocene, in 9000 BP, Khoisan-related peoples admixed with the ancestors of the Igbo people, possibly in the western Sahara. Between 2000 BP and 1500 BP, Nilo-Saharan-speakers may have migrated across the Sahel, from East Africa into West Africa, and admixed with Niger-Congo-speaking Berom people. In 710 CE, West African-related populations (e.g., Niger-Congo-speaking Berom people, Bantu-speakers) and East African-related populations (Nilo-Saharan-speaking Ethiopians, Nilo-Saharan-speaking Chadians) admixed with one another in northern Nigeria and northern Cameroon. Fan et al. (2019) found that the Fulani people show genetic affinity to isolated Afroasiatic-speaking groups in Eastern Africa, specifically Omotic-speakers such as the Aari people. While the Fulani have nearly exclusive indigenous African ancestry (defined by West and East African ancestry), they also show traces of West-Eurasian-like admixture, supporting an ancestral homeland somewhere in North or Eastern Africa, and westwards expansion during the Neolithic, possibly caused by the arrival and expansion of West-Eurasian-related groups. Fan et al. (2023) found that the Fulani, who have 50% Amhara-related and 50% Tikari-related ancestry as well as occupy regions such as West Africa, Central Africa, and the Sudan as nomadic herders, may have initially been Afroasiatic speakers that subsequently underwent language replacement and became Niger-Congo speakers. Medical DNA The genomes of Africans commonly found to undergo adaptation are regulatory DNA, and many cases of adaptation found among Africans relate to diet, physiology, and evolutionary pressures from pathogens. Sickle Cell Amid the Green Sahara, the mutation for sickle cell originated in the Sahara by at least 7,300 years ago, Subsequently, there was an expansion alongside the Nile. Domesticated Animal DNA While the Niger-Congo migration may have been from West Africa into Kordofan, possibly from Kordofan, Sudan, Niger-Congo speakers accompanied by undomesticated helmeted guineafowls, may have traversed into West Africa, domesticated the helmeted guineafowls by 3000 BCE, and via the Bantu expansion, traversed into other parts of Sub-Saharan Africa (e.g., Central Africa, East Africa, Southern Africa). Central Africa Archaic Human DNA Archaic traits found in human fossils of West Africa (e.g., Iho Eleru fossils, which dates to 13,000 BP) and Central Africa (e.g., Ishango fossils, which dates between 25,000 BP and 20,000 BP) may have developed as a result of admixture between archaic humans and modern humans or may be evidence of late-persisting early modern humans. Cameroon West African hunter-gatherers, in the region of western Central Africa (e.g., Shum Laka, Cameroon), particularly between 8000 BP and 3000 BP, were found to be related to modern Central African hunter-gatherers (e.g., Baka, Bakola, Biaka, Bedzan). Democratic Republic of Congo At Kindoki, in the Democratic Republic of Congo, there were three individuals, dated to the protohistoric period (230 BP, 150 BP, 230 BP); one carried haplogroups E1b1a1a1d1a2 (E-CTS99, E-CTS99) and L1c3a1b, another carried haplogroup E (E-M96, E-PF1620), and the last carried haplogroups R1b1 (R-P25 1, R-M415) and L0a1b1a1. Y-Chromosomal DNA Haplogroup R1b-V88 is thought to have originated in Europe and migrated into Africa with farmers or herders in the Neolithic period, c. 5500 BC. R1b-V88 is found at a high frequency among Chadic speaking peoples such as the Hausa, Fulani, and Toubou L1c prevalence was variously reported as: 100% in Ba-Kola, 97% in Aka (Ba-Benzélé), and 77% in Biaka, 100% of the Bedzan (Tikar), 97% and 100% in the Baka people of Gabon and Cameroon, respectively, 97% in Bakoya (97%), and 82% in Ba-Bongo. Autosomal DNA Genetically, African pygmies have some key difference between them and Bantu peoples. Medical DNA Evidence suggests that, when compared to other Sub-Saharan African populations, African pygmy populations display unusually low levels of expression of the genes encoding for human growth hormone and its receptor associated with low serum levels of insulin-like growth factor-1 and short stature. The genomes of Africans commonly found to undergo adaptation are regulatory DNA, and many cases of adaptation found among Africans relate to diet, physiology, and evolutionary pressures from pathogens. The individual of Mota is genetically related to groups residing near the region of Mota, and in particular, are considerably genetically related to the Aari people, especially the blacksmith caste of that group. Kenya At Jawuoyo Rockshelter, in Kisumu County, Kenya, a forager of the Later Stone Age carried haplogroups E1b1b1a1b2/E-V22 and L4b2a2c. At Ol Kalou, in Nyandarua County, Kenya, a pastoralist of the Pastoral Neolithic carried haplogroups E1b1b1b2b2a1/E-M293 and L3d1d. At Kilifi, Mtwapa, in Kenya, an individual, dated between 1250 CE and 1650 CE, carried haplogroup L3b1a1a. Tanzania At Mlambalasi rockshelter, in Tanzania, an individual, dated between 20,345 BP and 17,025 BP, carried undetermined haplogroups. At Gishimangeda Cave, in Karatu District, Tanzania, there were eleven pastoralists of the Pastoral Neolithic; one carried haplogroups E1b1b1a1b2/E-V22 and HV1b1, another carried haplogroup L0a, another carried haplogroup L3x1, another carried haplogroup L4b2a2b, another carried haplogroups E1b1b1b2b2a1/E-M293 and L3i2, another carried haplogroup L3h1a2a1, another carried haplogroups E1b1b1b2b2/E-V1486, likely E-M293 and L0f2a1, and another carried haplogroups E1b1b1b2b2/E-V1486, likely E-M293, and T2+150; while most of the haplogroups among three pastoralists went undetermined, one was determined to carry haplogroup BT, likely B. Mitochondrial DNA In 150,000 BP, Africans (e.g., Central Africans, East Africans) bearing haplogroup L1 diverged. Medical DNA The genomes of Africans commonly found to undergo adaptation are regulatory DNA, and many cases of adaptation found among Africans relate to diet, physiology, and evolutionary pressures from pathogens. Prior to the Bantu migration into the region, as evidenced by ancient DNA from Botswana, East African herders migrated into Southern Africa. At Kalemba rockshelter, in Zambia, an individual, dated between 5285 BP and 4975 BP, carried haplogroup L0d1b2b. Mitochondrial DNA In 200,000 BP, Africans (e.g., Khoisan of Southern Africa) bearing haplogroup L0 diverged from other Africans bearing haplogroup L1′6, which tend to be northward of Southern Africa. Between 130,000 BP and 75,000 BP, behavioral modernity emerged among Southern Africans and long-term interactions between the regions of Southern Africa and Eastern Africa became established. Autosomal DNA Henn et al. (2011) found that the ǂKhomani San, as well as the Sandawe and Hadza peoples of Tanzania, were the most genetically diverse of any living humans studied. This high degree of genetic diversity hints at the origin of anatomically modern humans. Medical DNA Among the ancient DNA from three hunter-gatherers sharing genetic similarity with San people and four Iron Age agriculturalists, their SNPs indicated that they bore variants for resistance against sleeping sickness and Plasmodium vivax. In particular, two out of the four Iron Age agriculturalists bore variants for resistance against sleeping sickness and three out of the four Iron Age agriculturalists bore Duffy negative variants for resistance against malaria. In contrast to the Iron Age agriculturalists, from among the San-related hunter-gatherers, a six-year-old boy may have died from schistosomiasis. In Botswana, a man, who dates to 1400 BP, may have also carried the Duffy negative variant for resistance against malaria. The genomes of Africans commonly found to undergo adaptation are regulatory DNA, and many cases of adaptation found among Africans relate to diet, physiology, and evolutionary pressures from pathogens. Throughout Sub-Saharan Africa, genetic adaptation (e.g., rs334 mutation, Duffy blood group, increased rates of G6PD deficiency, sickle cell disease) to malaria has been found among Sub-Saharan Africans, which may have initially developed in 7300 BP. Sub-Saharan Africans have more than 90% of the Duffy-null genotype. In the Kalahari Desert region of Africa, various possible genetic adaptations (e.g., adiponectin, body mass index, metabolism) have been found among the ǂKhomani people. Sub-Saharan Africans have more than 90% of the Duffy-null genotype. In South Africa, genetic adaptation (e.g., rs28647531 on chromosome 4q22) and strong susceptibility to tuberculosis has been found among Coloureds. ==Recent African origin of modern humans==

Between 500,000 BP and 300,000 BP, anatomically modern humans may have emerged in Africa. As Africans (e.g., Y-Chromosomal Adam, Mitochondrial Eve) have migrated from their places of origin in Africa to other locations in Africa, and as the time of divergence for East African, Central African, and West African lineages are similar to the time of divergence for the Southern African lineage, there is insufficient evidence to identify a specific region for the origin of humans in Africa. Subsequently, tens of thousands of years after, the ancestors of all present-day Eurasians migrated from Africa into Eurasia and eventually became admixed with Denisovans and Neanderthals. Models reflecting a pan-African origin (multiple locations of origin within Africa) and evolution of modern humans have been developed. or 3 to 5 times as many, and genetic variants that are rare outside of Africa are found to occur at an abundant rate within Africa. Most of the genetic diversity found among non-Africans is found to be, at large, a subset of genetic diversity found among Africans. The genomes of Africans commonly found to undergo adaptation are regulatory DNA, and many cases of adaptation found among Africans relate to diet, physiology, and evolutionary pressures from pathogens. Throughout Sub-Saharan Africa, genetic adaptation (e.g., rs334 mutation, Duffy blood group, increased rates of G6PD deficiency, sickle cell disease) to malaria has been found among Sub-Saharan Africans, which may have initially developed in 7300 BP. Throughout Africa, various genetic adaptations (e.g., apolipoprotein L1 (APOL1): G1 and G2 haplotype resistance to trypanosomiasis and increased risk of kidney disease; human leukocyte antigen (HLA) genes; major histocompatibility complex (MHC)) to HIV-1, smallpox, trypanosomiasis (African sleeping sickness), and tuberculosis has been found among Africans. Biomedical tests for specific genetic variants (e.g., rs1799853 in the CYP2C9 gene), which have been approved by the U.S. Food and Drug Administration and are intended to indicate correct prescription of warfarin, has been found to be increasingly irrelevant to Africans as the variants are rare in Africa. As frequency rate factors into considering and deciding variant pathogenicity and generalizable polygenic scores, modern clinical classifications of genetic variant pathogenicity are found to be inadequate due to a lack of genetic diversity in biomedical studies. Fan et al (2023) recently found ~5.3 million unique genetic variants in 180 African hunter-gatherer populations, and among existing classifications for variants determined to likely be "pathogenic", ~29% (44/154) of these "pathogenic" classified variants were found to occur frequently among the African hunter-gatherers. ==See also==