All mtDNA haplogroups considered native outside of Africa are descendants of either haplogroup M or its sibling haplogroup N.[14] Haplogroup M is relatively young, having a youngermost recent common ancestor date than some subclades of haplogroup N such ashaplogroup R.[15]
There is a debate concerning the geographical origins of Haplogroup M and its sibling haplogroup N. Both lineages are thought to have been the main surviving lineages involved in theout of Africa migration (or migrations) because all indigenous lineages found outside Africa belong to haplogroup M or haplogroup N. Scientists are unsure whether the mutations that define haplogroups M and N occurred in Africa before the exit from Africa or in Asia after the exit from Africa. Determining the origins of haplogroup M is further complicated by an early back-migration (from Asia to Africa) of bearers of M1.[5]
Its date of origin in absolute terms is only known with great uncertainty, as reconstruction has yielded different (but overlapping) ranges for the age of M in South Asia andEast Asia. The same authors give an estimate for t of L3 as71.6+15.0 −14.5 kya,[16] later (2011) narrowed to the somewhat younger65±5 kya.[1] Thus, haplogroup M would have emerged around 10,000 or at most 20,000 years after L3, around or somewhat after therecent out-of-Africa migration event.
Much discussion concerning the origins of haplogroup M has been related to its subclade haplogroup M1, which is the only variant of macro-haplogroup M found in Africa.[14] Two possibilities were being considered as potential explanations for the presence of M1 in Africa:
M was present in the ancient population which later gave rise to both M1 in Africa, and M more generally found inEurasia.[17]
The presence of M1 in Africa is the result of a back-migration from Asia which occurred sometime after the Out of Africa migration.[5]
In 2009, two independent publications reported a rare, deep-rooted subclade of haplogroup M, referred to as M23, that is present inMadagascar.[18][19]
The origin of M23 is still not clearly understood, a west Eurasian origin had been suggested before. Haplogroup M23 is ancient and found throughout Madagascar. It is suggested to be an Asian component with significant African component. M23 was found only in one individual in Dubai[20]
According to this theory, anatomically modern humans carrying ancestral haplogroup L3 lineages were involved in the Out of Africa migration from East Africa into Asia. Somewhere in Asia, the ancestral L3 lineages gave rise to haplogroups M and N. The ancestral L3 lineages were then lost bygenetic drift as they are infrequent outside Africa. The hypothesis that Asia is the origin of macrohaplogroup M is supported by the following:
The highest frequencies worldwide of macrohaplogroup M are observed in Asia, specifically in the Indian subcontinent, China, Japan and Korea where frequencies range from 60 to 80%. The total frequency of M subclades is even higher in some populations of Siberia or the Americas, but these small populations tend to exhibit strong genetic drift effects, and often their geographical neighbors exhibit very different frequencies.[3][21][22]
Deep time depth >50,000 years of western, central, southern and eastern Indian haplogroups M2, M38, M54, M58, M33, M6, M61, M62 and the distribution of macrohaplogroup M, do not rule out the possibility of macrohaplogroup M arising in Indian population.[23]
With the exception of the African specific M1, India has several M lineages that emerged directly from the root of haplogroup M.[3][22]
Only two subclades of haplogroup M, M1 and M23, are found in Africa, whereas numerous subclades are found outside Africa[3][5] (with some discussion possible only about sub-clade M1, concerning which see below).
Specifically concerning M1
Haplogroup M1 has a restricted geographic distribution in Africa, being found mainly in North Africans and East Africa at low or moderate frequencies. If M had originated in Africa around, or before, the Out of Africa migration, it would be expected to have a more widespread distribution[22]
According to Gonzalez et al. 2007, M1 appears to have expanded relatively recently. In this study M1 had a younger coalescence age than the Asian-exclusive M lineages.[5]
The geographic distribution of M1 in Africa is predominantly North African/supra-equatorial[5] and is largely confined toAfro-Asiatic speakers,[24] which is inconsistent with the Sub-Saharan distribution of sub-clades of haplogroupsL3 andL2 that have similar time depths.[14]
One of the basal lineages of M1 lineages has been found inNorthwest Africa and in theNear East but is absent in East Africa.[5]
M1 is not restricted to Africa. It is relatively common in the Mediterranean, peaking inIberia. M1 also enjoys a well-established presence in the Middle East, from the south of the Arabian Peninsula toAnatolia and from theLevant toIran. In addition, M1 haplotypes have occasionally been observed in theCaucasus and the Trans Caucasus, and without any accompanying L lineages.[5][14] M1 has also been detected inCentral Asia, seemingly reaching as far asTibet.[5]
The fact that the M1 sub-clade of macrohaplogroup M has a coalescence age which overlaps with that ofhaplogroup U6 (a Eurasian haplogroup whose presence in Africa is due to a back-migration from West Asia) and the distribution of U6 in Africa is also restricted to the same North African and Horn African populations as M1 supports the scenario that M1 and U6 were part of the same population expansion from Asia to Africa.[24]
The timing of the proposed migration of M1 and U6-carrying peoples from West Asia to Africa (between 40,000 and 45,000 ybp) is also supported by the fact that it coincides with changes in climatic conditions that reduced the desert areas of North Africa, thereby rendering the region more accessible to entry from the Levant. This climatic change also temporally overlaps with the peopling of Europe by populations bearinghaplogroup U5, the European sister clade of haplogroup U6.[24]
According to this theory, haplogroups M and N arose from L3 in an East African population ancestral toeurasians that had been isolated from other African populations before the OOA event. Members of this population were involved in the out Africa migration and may have only carried M and N lineages. With the possible exception of haplogroup M1, all other M and N clades in Africa were lost due toadmixture with other African populations andgenetic drift.[8][17]
The African origin of Haplogroup M is supported by the following arguments and evidence.
L3, the parent clade of haplogroup M, is found throughout Africa, but is rare outside Africa.[17] According toToomas Kivisild (2003), "the lack of L3 lineages other than M and N in India and among non-African mitochondria in general suggests that the earliest migration(s) of modern humans already carried these two mtDNA ancestors, via a departure route over theHorn of Africa."[8]
Specifically concerning at least M1a:
This study provides evidence that M1, or its ancestor, had an Asiatic origin. The earliest M1 expansion into Africa occurred in northwestern instead of northeastern areas; this early spread reached the Iberian Peninsula even affecting the Basques. The majority of the M1a lineages found outside and inside Africa had a more recent eastern Africa origin. Both western and eastern M1 lineages participated in the Neolithic colonization of the Sahara. The striking parallelism between subclade ages and geographic distribution of M1 and its North African U6 counterpart strongly reinforces this scenario. Finally, a relevant fraction of M1a lineages present today in the European Continent and nearby islands possibly had a Jewish instead of the commonly proposedAmazigh maternal ascendance.[5]
Hypothesized map of human migration based on mitochondrial DNA
A number of studies have proposed that the ancestors of modern haplogroup M dispersed from Africa through the southern route across theHorn of Africa along the coastal regions of Asia onwards to New Guinea and Australia. These studies suggested that the migrations of haplogroups M and N occurred separately with haplogroup N heading northwards from East Africa to theLevant. However, the results of numerous recent studies indicate that there was only one migration out of Africa and that haplogroups M and N were part of the same migration. This is based on the analysis of a number ofrelict populations along the proposed beachcombing route from Africa to Australia, all of which possessed both haplogroups N and M.[4][25]
A 2008 study by Abu-Amero et al., suggests that theArabian Peninsula may have been the main route out of Africa. However, as the region lacks of autochthonous clades of haplogroups M and N the authors suggest that the area has been a more recent receptor of human migrations than an ancient demographic expansion center along the southern coastal route as proposed under the single migration Out-of-Africa scenario of the African origin hypothesis.[6]
M is the most common mtDNA haplogroup in Asia,[26]super-haplogroup M is distributed all overAsia, where it represents 60% of all maternal lineages.[27]
Haplogroup M accounts for approximately 42% of all mtDNA inFilipinos, among whom it is represented mainly by M7c3c andE.[40] In Vietnam, haplogroup M has been found in 37% (52/139) to 48% (20/42) of samples of Vietnamese and in 32% (54/168) of a sample ofChams fromBình Thuận Province.[37][41] Haplogroup M accounts for 43% (92/214) of all mtDNA in a sample ofLaotians, with its subclade M7 (M7b, M7c, and M7e) alone accounting for a full third of all haplogroup M, or 14.5% (31/214) of the total sample.[42]
InOceania, A 2008 study found Haplogroup M in 42% (60/144) of a pool of samples from nine language groups in theAdmiralty Islands of Papua New Guinea.[43] M has been found in 35% (17/48) of a sample of Papua New Guinea highlanders from the Bundi area and in 28% (9/32) of a sample of Aboriginal Australians from Kalumburu in northwestern Australia.[44] In a study published in 2015, Haplogroup M was found in 21% (18/86) of a sample ofFijians, but it was not observed in a sample of 21Rotumans.[45]
Haplogroup M is also relatively common inNortheast Africa, occurring especially amongSomalis,Libyans andOromos at frequencies over 20%.[46][47] Toward the northwest, the lineage is found at comparable frequencies among theTuareg in Mali and Burkina Faso; particularly the M1a2 subclade (18.42%).[48]
Among the descendant lineages of haplogroup M areC,D,E,G,Q, andZ. Z and G are found in North Eurasian populations, C and D exists among North Eurasian and Native American populations, E is observed in Southeast Asian populations, and Q is common among Melanesian populations. The lineages M2, M3, M4, M5, M6, M18 and M25 are exclusive to South Asia, with M2 reported to be the oldest lineage on the Indian sub-continent with an age estimation of 60,000—75,000 years, and with M5 reported to be the most prevalent in historically Turco-Persian enclaves.[3][49][50]
In 2013, four ancient specimens dated to around 2,500 BC-500 AD, which were excavated from the Tell Ashara (Terqa) and Tell Masaikh (Kar-Assurnasirpal) archaeological sites in theEuphrates Valley, were found to belong to mtDNA haplotypes associated with the M4b1, M49 and/or M61 haplogroups. Since these clades are not found among the current inhabitants of the area, they are believed to have been brought at a more remote period from east ofMesopotamia; possibly by either merchants or the founders of the ancient Terqa population.[51]
In 2016, three Late Pleistocene European hunter-gatherers were also found to carry M lineages. Two of the specimens were from theGoyet archaeological site in Belgium and were dated to 34,000 and 35,000 years ago, respectively. The other ancient individual hailed from theLa Rochette site in France, and was dated to 28,000 years ago.[52]
Ancient DNA analysis ofIberomaurusian skeletal remains at theTaforalt site in Morocco, which have been dated to between 15,100 and 13,900 ybp, observed the M1b subclade in one of the fossils (1/7; ~14%).[53] Ancient individuals belonging to the Late Iron Age settlement of Çemialo Sırtı inBatman, southeast Turkey were found to carry haplogroup M; specifically the M1a1 subclade (1/12; ~8.3%). Haplogroup M was also detected in ancient specimens from Southeast Anatolia (0.4%).[54] Additionally, M1 has been observed amongancient Egyptian mummies excavated at theAbusir el-Meleq archaeological site in Middle Egypt, which date from the Pre-Ptolemaic/lateNew Kingdom andRoman periods.[55] Fossils at the Early Neolithic site ofIfri n'Amr or Moussa inMorocco, which have been dated to around 5,000 BCE, have also been found to carry the M1b subclade. These ancient individuals bore an autochthonous Maghrebi genomic component that peaks among modernBerbers, indicating that they were ancestral to populations in the area.[56] The ancient Egyptian aristocrats Nakht-Ankh and Khnum-Nakht were also found to belong to the M1a1 subclade. The half-brothers lived during the12th Dynasty, with theirtomb located at theDeir Rifeh cemetery in Middle Egypt.[57]
Haplogroup M2[2] – found in South Asia, with highest concentrations in SE India and Bangladesh;[14] oldest haplogroup M lineage on the Indian sub-continent.[3] Also found with low frequency insouthwestern China.[32]
M2a'b
M2a – India (Madhya Pradesh),Munda; most common in Bangladesh
M2a1 – Malpaharia
M2a1a – Uyghur, Sindhi, Hill Kolam, Thailand
M2a1a1 – Katkari
M2a1a1a – Nihal
M2a1a1a1 – Katkari
M2a1a1b – Nihal
M2a1a1b1 – Nihal
M2a1a2 – Madia
M2a1a2a – Madia
M2a1a2a1 – Kamar
M2a1a2a1a – Kamar
M2a1a-G207A
M2a1a3 – Mathakur
M2a1a3-T16093C
M2a1a3a – Kathakur, Mathakur
M2a1a3a1 – Kathakur
M2a1a3b – Kathakur
M2a1b – Dungri Bhil
M2a1c – Andh
M2a2
M2a2a
M2a3
M2a3a
M2b – Paudi Bhuiya; most common in SE India
M2b1 – Korku
M2b1a – Korku, Munda
M2b1b – Malpaharia
M2b2 – Hill Kolam, Jenu Kuruba
M2b3 – Betta Kurumba
M2b3a – Betta Kurumba
M2b4 – Korku
M2c – Myanmar, Thailand/Laos
Haplogroup M3 – Uyghur, Myanmar, New Delhi (Hindu), Paniya[3] – found mainly in South Asia, with highest concentrations in west and NW India[14]
Haplogroup M4b – found among ancient specimens in the Euphrates valley
Haplogroup M65
Haplogroup M65a – found in India, Pakistan (Balochi, Sindhi), Sarikoli inTaxkorgan, Xinjiang, China,[50]Pamiri in Gorno-Badakhshan, Tajikistan,[50] Ladakh, Myanmar, China
M65a1
M65a-C16311T!!
M65a2
Haplogroup M65b – found in India[50] and in Pakistan (Balochi)
Haplogroup M30 – mainly in India; also found in Nepal, Pakistan, Central Asia (Kyrgyz, Wakhi, and Sarikoli in Taxkorgan, Xinjiang, China and Tajiks in Dushanbe, Tajikistan[50]), the Middle East, and North Africa.
Haplogroup M5a – found inIndia (Jammu and Kashmir, Madhya Pradesh, Kathakur,[67]Gadaba[22]), Thailand (Mon in Ratchaburi Province and Lopburi Province[58]), Israel, Kyrgyz inTaxkorgan[50]
M5a1
M5a1a – India (incl. Jammu and Kashmir)
M5a1b – India (Jammu and Kashmir, Dongri Bhil, Nihal, Andh), Pakistan (Burusho), Russia,[68] Spain (Romani), USA (Georgia), USA (California)
M5a2 – India
M5a2a – Pakistan (Balochi), India (Nihal), Thailand (Tai Yuan in Uttaradit Province[58])
M5a2a1 – India (Hindus in New Delhi), Pakistan (Sindhi)
M5a2a1a – Saudi Arabia, Iran (Persian),[49] Kazakh, Pakistan (Balochi), India (DongriBhil,Korku, Lachungpa), Myanmar
Haplogroup M61 – found among ancient specimens in the Euphrates valley
Haplogroup M7[7] – found in East Asia and Southeast Asia, especially in Japan, southern China,Vietnam,[70]Laos,[42] andThailand;[58] also found with low frequency in Central Asia and Siberia
Haplogroup M9[14] – found in East Asia and Central Asia, especially inTibet. In the Nepalese populations, it is prevalent mainly in Sherpa (27.4%), Tharu-CI (19.6%), Tamang (15.5%), Magar (13.5%), and Tharu-CII.[77] Haplogroup M9* has additionally been found in ancient remains from theRed Deer Cave people in present-dayYunnan.[78]
Haplogroup M9a'b
Haplogroup M9a – Han (Guangdong, Guangxi, Yunnan, Sichuan, Hunan, Taiwan, Anhui, Shaanxi, Shandong, Hebei), Korean (South Korea), Tujia (Hunan), Kinh (Hue), Mongol (Hohhot), Japanese,Lhoba[61] [TMRCA 23,000 (95% CI 18,100 <-> 28,800) ybp[61]]
Haplogroup M9a1 – Han (Hunan) [TMRCA 19,500 (95% CI 13,800 <-> 26,700) ybp[61]]
Haplogroup M9a1a – Han (Hebei, Henan, Shaanxi, Anhui, Zhejiang, Hunan, Yunnan, Guangdong, Hong Kong, Taiwan), Manchu (Jilin), Korean (South Korea), Hui (Qinghai), Kazakh (Ili), Kyrgyz (Kyrgyzstan), Nepal [TMRCA 16,500 (95% CI 12,800 <-> 20,900) ybp[61]]
Haplogroup M9a1a1 – Han (Henan, Shaanxi, Guangdong, Guangxi, Sichuan, Yunnan), Taiwan, Thailand/Laos, Hui (Yuxi), Tibetan (Nyingchi), Uyghur, Japanese (Hokkaido) [TMRCA 13,900 (95% CI 10,800 <-> 17,600) ybp[61]]
Haplogroup M9a1a1a – Japanese, Korean (Seoul), Chinese (incl. a Henan Han), Khamnigan (Buryat Republic), Udege, Nivkh, Tibetan (Qinghai)
Haplogroup M9a1a1b – Japanese, Korean (South Korea), Mongol (Inner Mongolia), Han (Hunan)
Haplogroup M9a1a1c – Han (Gansu, Shaanxi, Henan, Liaoning, Zhejiang, Jiangxi, Hunan, Guangdong, Sichuan, Yunnan), Ainu, Japanese, Korean, Mongol (Hohhot), Uyghur (Ürümqi), Altaian, Tuvinian, Hui (Xinjiang, Kyrgyzstan), Tujia (Hunan), Bai (Yunnan), Yi (Yunnan)
Haplogroup M9a1a1c1 – Han (Henan)
Haplogroup M9a1a1c1a – Han (Henan, Anhui, Shandong, Liaoning, Sichuan, Yunnan, Xinjiang,Lanzhou[74]), Korea, Japanese, Mongol (New Barga Left Banner), Tibetan (Liangshan), Hui (Ili)
Haplogroup M9a1a1c1b – Tibetan (Gansu, Qinghai, Sichuan, Yunnan, Chamdo, Lhasa, Nagqu, Ngari, Nyingchi, Shannan, Shigatse), Monpa (Nyingchi), Dirang Monpa (Arunachal Pradesh), Lachungpa (Sikkim), Tu (Huzhu Tu Autonomous County), Dongxiang (Gansu), Buryat (Inner Mongolia, Buryat Republic), Han (Qinghai), Hui (Qinghai), Nepalese
Haplogroup M9a1a1d – Salar (Qinghai), Han (Yanting), Bai (Dali)
Haplogroup M9a1a2 – Tharu (Chitwan District, Uttar Pradesh), Tibetan (Nagqu, Yunnan, Qinghai, Shigatse), Lhoba (Nyingchi), Dhimal (West Bengal), Chin (Myanmar), Adi (Assam), Tu (Qinghai), Uyghur (Ürümqi), Mongol (Ili), Han (Hunan, Shanxi, Sichuan, Yunnan, Shandong, Ili), Yi (Yunnan), Bai (Dali), Nepalese [TMRCA 6,153.9 ± 5,443.2 ybp; CI=95%[79]]
Haplogroup M9a4a – Kinh (Hanoi), Han (Shaanxi, Shandong, Zhejiang, Taiwan, Sichuan, Guangdong), Li (Hainan), Mulam (Guangxi), Jino (Xishuangbanna), Dai (Xishuangbanna), Chiang Mai
Haplogroup M9b – Han (Luocheng, Dujiangyan, Shaanxi), Cham (Binh Thuan), Mulam (Luocheng), Bouyei (Guizhou), Yi (Hezhang), Bunu (Dahua), Hui (Ili), Thailand (Phuan fromSukhothai Province[58][61])
Haplogroup E – a subclade of M9 – found especially in Taiwan (Aboriginal peoples), Maritime Southeast Asia, and theMariana Islands [TMRCA 23,695.4 ± 6,902.4 ybp; CI=95%[79]]
Haplogroup M10[15] – small clade found in East Asia, Southeast Asia, Bangladesh, Central Asia, Saudi Arabia, southern Siberia, Russia, Belarus, and Poland [TMRCA 23,600 (95% CI 17,100 <-> 31,700) ybp[61]]
Haplogroup M11[16] – small clade found especially among theChinese and also in someJapanese,Koreans,Oroqen,Yi,Tibetans, Tajiks in Dushanbe, Tajikistan,[50] and Bangladeshis[32] [TMRCA 20,987.7 ± 5,740.8 ybp; CI=95%[79]]
Haplogroup M11b2 – Japanese (Hokkaido), China, Altai-Kizhi, Tajik (Dushanbe)
Haplogroup M11d – China, Teleut, Kyrgyz, Iran
Haplogroup M11c – Japan, Korea
Haplogroup M12'G
Haplogroup M12[17] – small clade found especially among theaborigines of Hainan Island as well as in other populations of China,[35] Japan, Korea,Pashtuns, Tibet, Myanmar, Thailand, Cambodia, and Vietnam [TMRCA 31,287.5 ± 5,731.2 ybp; CI=95%[79]]
Haplogroup M12a1a – Thailand (Htin in Phayao Province,Black Tai in Kanchanaburi Province,Mon in Kanchanaburi Province,Khon Mueang in Chiang Mai Province[58]), Laos (Lao in Luang Prabang[58]), Hainan
Haplogroup M12a1b – Tibet, Thailand (Blang in Chiang Rai Province,Khon Mueang in Chiang Rai Province,Palaung in Chiang Mai Province,Mon in Kanchanaburi Province[58]), Hainan, Vietnam
Haplogroup M12a2 – Thailand, Hainan, Myanmar
Haplogroup M12b – Thailand (Khmu in Nan Province[58])
Haplogroup M12b1a2 – Thailand (Soa in Sakon Nakhon Province[58])
Haplogroup M12b1a2a – Cambodia, Malaysia
Haplogroup M12b1a2b – Cambodia
Haplogroup M12b1b – Thailand (Suay in Surin Province,Khmer in Surin Province,Lao Isan in Roi Et Province,Black Tai in Loei Province[58]), Cambodia
Haplogroup M12b2 – Thailand, Hainan
Haplogroup M12b2a – Cambodia
Haplogroup G[18] – found especially in Japan, Mongolia, and Tibet and in indigenous peoples ofKamchatka (Koryaks,Alyutors,Itelmens), with some isolated instances in diverse places of Asia [TMRCA 31,614.8 ± 5,193.6 ybp; CI=95%[79]]
Haplogroup G1 – Japan [TMRCA 21,492.9 ± 5,414.4 ybp; CI=95%[79]]
Haplogroup G1a – China (Uyghurs), Thailand (Black Lahu inMae Hong Son Province[62]) [TMRCA 18,139.1 ± 5,462.4 ybp; CI=95%[79]] (TMRCA 18,800 [95% CI 12,600 <-> 26,900] ybp[61])
Haplogroup G1a1 – Korea, Vietnam (Dao), China (Sarikolis, Uyghurs,etc.), Tajikistan (Pamiris), Russia (Todzhin) [TMRCA 12,200 (95% CI 10,100 <-> 14,600) ybp][61]
Haplogroup G2a-T152C!-C16262T - ancient DNA fromIrkutsk Oblast (Irk067 from the Novyj Kachug site at the left bank of the upper Lena River, cal BC 3755 to cal BC 3640[106][61])
Haplogroup G3a1c (C2389A) - skeletal remains ofBo people from Chang'an Township, Weixin County,Zhaotong, Yunnan, China and similar people from Yangxu Town, Youjiang District,Baise, Guangxi, China and Tham Lod rockshelter,Pang Mapha District, Mae Hong Son Province, Thailand[116]
Haplogroup M41c – found in Andhra Pradesh, India[22]
Haplogroup M27[20] – found inMelanesia (Papua New Guinea, Solomon Islands)
Haplogroup M28[21] – found in Melanesia (Papua New Guinea, Vanuatu,[124] Fiji,[124] Solomon Islands), Polynesia (Tonga, Samoa, Futuna), and in a singleHan individual from China[32]
Haplogroup M29'Q
Haplogroup M29[22] – found in Melanesia (Papua New Guinea, Solomon Islands[125])
Haplogroup Q[23] – found in Melanesia and Australia (Aboriginal peoples)
Haplogroup M71a'b (M71-C151T) - India, Myanmar, Cambodia (Mel), Laos (Lao in Vientiane), Thailand (Lawa, Karen, Shan, Blang, Phuan,Lao Isan,Khon Mueang), Vietnam (Ede). Also found in approximately 10,500 year-old human remains ("Longlin") from Longlin Cave nearDe'e,Longlin County,Guangxi Province, China.[137]
This phylogenetic tree of haplogroup M subclades is based on the paper by Mannis van Oven and Manfred KayserUpdated comprehensive phylogenetic tree of global human mitochondrial DNA variation[13] and subsequent published research.
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