Haplogroup M
Possible time of originca. 55,000-65,000 years ago[1] or 50,000-65,000 years ago[2]
Possible place of originSouth Asia,[3][4][5][6][7][8] Southwest Asia,[2][1] Southeast Asia,[9][10] or East Africa[11][12]
DescendantsM1, M2, M3, M4'45, M5, M6, M7, M8, M9, M10'42, M12'G, M13, M14, M15, M21, M27, M28, M29'Q, M31'32, M33, M34, M35, M36, M39, M40, M41, M44, M46, M47'50, M48, M49, M51, D
Defining mutations263, 489, 10400, 14783, 15043[13]

Haplogroup M is a human mitochondrial DNA (mtDNA) haplogroup. An enormous haplogroup spanning all the continents, the macro-haplogroup M, like its sibling the macro-haplogroup N, is a descendant of the haplogroup L3.

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 younger most recent common ancestor date than some subclades of haplogroup N such as haplogroup 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 the out 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 and East Asia. Soares et al. (2009) give 95% CI ranges of 49.4+10.8
and 60.6+13.7
for South and East Asia, respectively. The same authors give an estimate for the age of L3 as 71.6+15.0
,[16] later (2011) narrowed to the somewhat younger 65±5 kya.[1] Thus, haplogroup M would have emerged around 10,000 or at most 20,000 years after L3, around or somewhat after the recent out-of-Africa migration event.

Haplogroup M1

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:

  1. M was present in the ancient population which later gave rise to both M1 in Africa, and M more generally found in Eurasia.[17]
  2. 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]

Haplogroup M23

In 2009, two independent publications reported a rare, deep-rooted subclade of haplogroup M, referred to as M23, that is present in Madagascar.[18][19]

The contemporary populations of Madagascar were formed in the last 2,000 years by the admixture of Bantu and Indonesian (Austronesian) populations. M23 seems to be restricted to Madagascar, as it has not been detected anywhere else. M23 could have been brought to Madagascar from Asia where most deep rooted subclades of Haplogroup M are found.

Asian origin hypothesis

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 by genetic drift as they are infrequent outside Africa. The hypothesis that Asia is the origin of macrohaplogroup M is supported by the following:

  1. The highest frequencies worldwide of macrohaplogroup M are observed in Asia, specifically in Bangladesh, China, India, Japan, Korea, and Nepal 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][20][21]
  2. 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.[22]
  3. With the exception of the African specific M1, India has several M lineages that emerged directly from the root of haplogroup M.[3][21]
  4. 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).
  5. 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 [21]
  • 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 to Afro-Asiatic speakers,[23] which is inconsistent with the Sub-Saharan distribution of sub-clades of haplogroups L3 and L2 that have similar time depths.[14]
  • One of the basal lineages of M1 lineages has been found in Northwest Africa and in the Near East but is absent in East Africa.[5]
  • M1 is not restricted to Africa. It is relatively common in the Mediterranean, peaking in Iberia. M1 also enjoys a well-established presence in the Middle East, from the South of the Arabian Peninsula to Anatolia and from the Levant to Iran. In addition, M1 haplotypes have occasionally been observed in the Caucasus and the Trans Caucasus, and without any accompanying L lineages.[5][14] M1 has also been detected in Central Asia, seemingly reaching as far as Tibet.[5]
  • The fact that the M1 sub-clade of macrohaplogroup M has a coalescence age which overlaps with that of haplogroup 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.[23]
  • The timing of the proposed migration of M1 and U6-carrying peoples from West Asia to Africa (between 40,000 to 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 bearing haplogroup U5, the European sister clade of haplogroup U6.[23]

African origin hypothesis

According to this theory, haplogroups M and N arose from L3 in an East African population ancestral to eurasians 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 to admixture with other African populations and genetic drift.[8][17]

The African origin of Haplogroup M is supported by the following arguments and evidence.

  1. L3, the parent clade of haplogroup M, is found throughout Africa, but is rare outside Africa.[17] According to Toomas 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 the Horn of Africa."[8]
  2. 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 proposed Arab/Berber maternal ascendance.[5]


Hypothesized map of human migration based on mitochondrial DNA
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 the Horn 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 the Levant. 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 of relict populations along the proposed beachcombing route from Africa to Australia, all of which possessed both haplogroups N and M.[4][24]

A 2008 study by Abu-Amero et al., suggests that the Arabian 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,[25] super-haplogroup M is distributed all over Asia, where it represents 60% of all maternal lineages.[26]

All Andamanese belong to Haplogroup M.[27] It peaks in the Malaysian aboriginal Negrito tribes at almost 100% but with mtDNA M21a representing Semang; 84% in Mendriq people, Batek people 48%, (almost all belong to the specific Malaysian Negrito haplogroup M21a, this subclade also found in the Orang Asli 21%, Thais 7.8% and Malay 4.6%)[28][29][30] It also peaks very high in Japan and Tibet, where it represents on average about 70% of the maternal lineages (160/216 = 74% Tibet,[31] 205/282 = 73% Tōkai,[32] 231/326 = 71% Okinawa,[32] 148/211 = 70% Japanese,[20] 50/72 = 69% Tibet,[31] 150/217 = 69% Hokkaidō,[33] 24/35 = 69% Zhongdian Tibetan, 175/256 = 68% northern Kyūshū,[32] 38/56 = 68% Qinghai Tibetan, 16/24 = 67% Diqing Tibetan, 66/100 = 66% Miyazaki, 33/51 = 65% Ainu, 214/336 = 64% Tōhoku,[32] 75/118 = 64% Tokyo (JPT)[34]) and is ubiquitous in India[3][14][35] and South Korea,[32][36][37][38][39] where it has approximately 60% frequency. Among Chinese people both inside and outside of China, haplogroup M accounts for approximately 50% of all mtDNA on average, but the frequency varies from approximately 40% in Hans from Hunan and Fujian in southern China to approximately 60% in Shenyang, Liaoning in northeastern China.[31][32][34][37]

Haplogroup M accounts for approximately 42% of all mtDNA in Filipinos, among whom it is represented mainly by M7c3c and E.[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 of Chams from Bình Thuận Province.[37][41] Haplogroup M accounts for 43% (92/214) of all mtDNA in a sample of Laotians, 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]

In Oceania, A 2008 study found Haplogroup M in 42% (60/144) of a pool of samples from nine language groups in the Admiralty 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 of Fijians, but it was not observed in a sample of 21 Rotumans.[45]

Haplogroup M is also relatively common in Northeast Africa, occurring especially among Somalis, Libyans and Oromos at frequencies over 20%.[46][47] Toward the northwest, the lineage is found at comparable frequencies among the Tuareg in Mali and Burkina Faso; particularly the M1a2 subclade (18.42%).[48]

Among the descendant lineages of haplogroup M are C, D, E, G, Q, and Z. 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 the Euphrates 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 of Mesopotamia; 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 the Goyet archaeological site in Belgium and were dated to 34,000 and 35,000 years ago, respectively. The other ancient individual hailed from the La Rochette site in France, and was dated to 28,000 years ago.[52]

Ancient DNA analysis of Iberomaurusian skeletal remains at the Taforalt 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 in Batman, 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 among ancient Egyptian mummies excavated at the Abusir el-Meleq archaeological site in Middle Egypt, which date from the Pre-Ptolemaic/late New Kingdom and Roman periods.[55] Fossils at the Early Neolithic site of Ifri n'Amr or Moussa in Morocco, 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 modern Berbers, 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 the 12th Dynasty, with their tomb located at the Deir Rifeh cemetery in Middle Egypt.[57]

Subgroups distribution



This phylogenetic tree of haplogroup M subclades is based on the paper by Mannis van Oven and Manfred Kayser Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation[13] and subsequent published research.

See also

Phylogenetic tree of human mitochondrial DNA (mtDNA) haplogroups

  Mitochondrial Eve (L)    
L0 L1–6  
L1 L2   L3     L4 L5 L6
M N  
CZ D E G Q   O A S R   I W X Y
C Z B F R0   pre-JT   P   U


  1. ^ a b c Soares, P; Alshamali, F; Pereira, J. B; Fernandes, V; Silva, N. M; Afonso, C; Costa, M. D; Musilova, E; MacAulay, V; Richards, M. B; Cerny, V; Pereira, L (2011). "The Expansion of mtDNA Haplogroup L3 within and out of Africa". Molecular Biology and Evolution. 29 (3): 915–927. doi:10.1093/molbev/msr245. PMID 22096215.
  2. ^ a b Vai S, Sarno S, Lari M, Luiselli D, Manzi G, Gallinaro M, Mataich S, Hübner A, Modi A, Pilli E, Tafuri MA, Caramelli D, di Lernia S (March 2019). "Ancestral mitochondrial N lineage from the Neolithic 'green' Sahara". Sci Rep. 9 (1): 3530. Bibcode:2019NatSR...9.3530V. doi:10.1038/s41598-019-39802-1. PMC 6401177. PMID 30837540.
  3. ^ a b c d e f g h Rajkumar; et al. (2005). "Phylogeny and antiquity of M macrohaplogroup inferred from complete mt DNA sequence of Indian specific lineages". BMC Evolutionary Biology. 5: 26. doi:10.1186/1471-2148-5-26. PMC 1079809. PMID 15804362.
  4. ^ a b Macaulay, V; Hill, C; Achilli, A; Rengo, C; Clarke, D; Meehan, W; Blackburn, J; Semino, O; et al. (2005). "Single, Rapid Coastal Settlement of Asia Revealed by Analysis of Complete Mitochondrial Genomes" (PDF). Science. 308 (5724): 1034–6. Bibcode:2005Sci...308.1034M. doi:10.1126/science.1109792. PMID 15890885. S2CID 31243109.: "Haplogroup L3 (the African clade that gave rise to the two basal non-African clades, haplogroups M and N) is 84,000 years old, and haplogroups M and N themselves are almost identical in age at 63,000 years old, with haplogroup R diverging rapidly within haplogroup N 60,000 years ago."
  5. ^ a b c d e f g h i j k Gonzalez; et al. (2007). "Mitochondrial lineage M1 traces an early human backflow to Africa". BMC Genomics. 8: 223. doi:10.1186/1471-2164-8-223. PMC 1945034. PMID 17620140.
  6. ^ a b Abu-Amero, KK; Larruga, JM; Cabrera, VM; González, AM; et al. (2008). "Mitochondrial DNA structure in the Arabian Peninsula". BMC Evolutionary Biology. 8: 45. doi:10.1186/1471-2148-8-45. PMC 2268671. PMID 18269758.
  7. ^ Kivisild, M; Kivisild, T; Metspalu, E; Parik, J; Hudjashov, G; Kaldma, K; Serk, P; Karmin, M; Behar, DM; Gilbert, M Thomas P; Endicott, Phillip; Mastana, Sarabjit; Papiha, Surinder S; Skorecki, Karl; Torroni, Antonio; Villems, Richard (2004). "Most of the extant mtDNA boundaries in South and Southwest Asia were likely shaped during the initial settlement of Eurasia by anatomically modern humans". BMC Genetics. 5: 26. doi:10.1186/1471-2156-5-26. PMC 516768. PMID 15339343.
  8. ^ a b c Kivisild, T; Rootsi, S; Metspalu, M; Mastana, S; Kaldma, K; Parik, J; Metspalu, E; Adojaan, M; et al. (2003). "The Genetic Heritage of the Earliest Settlers Persists Both in Indian Tribal and Caste Populations". American Journal of Human Genetics. 72 (2): 313–32. doi:10.1086/346068. PMC 379225. PMID 12536373.
  9. ^ Marrero, Patricia; Abu-Amero, Khaled K.; Larruga, Jose M.; Cabrera, Vicente M. (2016). "Carriers of human mitochondrial DNA macrohaplogroup M colonized India from southeastern Asia". BMC Evolutionary Biology. 16 (1): 246. doi:10.1186/s12862-016-0816-8. PMC 5105315. PMID 27832758.
  10. ^ Quintana-Murci, Lluís; et al. (1999). "Where West Meets East: The Complex mtDNA Landscape of the Southwest and Central Asian Corridor". Am. J. Hum. Genet. 74 (5): 827–45. doi:10.1086/383236. PMC 1181978. PMID 15077202.
  11. ^ Chandrasekar, Adimoolam; Kumar, Satish; Sreenath, Jwalapuram; Sarkar, Bishwa Nath; Urade, Bhaskar Pralhad; Mallick, Sujit; Bandopadhyay, Syam Sundar; Barua, Pinuma; Barik, Subihra Sankar; Basu, Debasish; Kiran, Uttaravalli; Gangopadhyay, Prodyot; Sahani, Ramesh; Prasad, Bhagavatula Venkata Ravi; Gangopadhyay, Shampa; Lakshmi, Gandikota Rama; Ravuri, Rajasekhara Reddy; Padmaja, Koneru; Venugopal, Pulamaghatta N.; Sharma, Madhu Bala; Rao, Vadlamudi Raghavendra (2009). "Updating Phylogeny of Mitochondrial DNA Macrohaplogroup M in India: Dispersal of Modern Human in South Asian Corridor". PLOS ONE. 4 (10): e7447. Bibcode:2009PLoSO...4.7447C. doi:10.1371/journal.pone.0007447. PMC 2757894. PMID 19823670.
  12. ^ Osman, Maha M.; et al. "Mitochondrial HVRI and whole mitogenome sequence variations portray similar scenarios on the genetic structure and ancestry of northeast Africans" (PDF). Institute of Endemic Diseases. Meta Gene.
  13. ^ a b van Oven, M; Kayser, M; et al. (2009). "Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation". Human Mutation. 30 (2): E386–E394. doi:10.1002/humu.20921. PMID 18853457. S2CID 27566749.
  14. ^ a b c d e f g h Metspalu, M; Kivisild, T; Metspalu, E; Parik, J; Hudjashov, G; Kaldma, K; Serk, P; Karmin, M; Behar, DM; Gilbert, M Thomas P; Endicott, Phillip; Mastana, Sarabjit; Papiha, Surinder S; Skorecki, Karl; Torroni, Antonio; Villems, Richard; et al. (2004). "Most of the extant mtDNA boundaries in South and Southwest Asia were likely shaped during the initial settlement of Eurasia by anatomically modern humans". BMC Genetics. 5: 26. doi:10.1186/1471-2156-5-26. PMC 516768. PMID 15339343.
  15. ^ Fregel, R; Cabrera, V; Larruga, JM; Abu-Amero, KK; González, AM (2015). "Carriers of Mitochondrial DNA Macrohaplogroup N Lineages Reached Australia around 50,000 Years Ago following a Northern Asian Route". PLOS ONE. 10 (6): e0129839. Bibcode:2015PLoSO..1029839F. doi:10.1371/journal.pone.0129839. PMC 4460043. PMID 26053380.
  16. ^ "Correcting for Purifying Selection: An Improved Human Mitochondrial Molecular Clock Supplementary material (p. 84)" (PDF). 2009: 89. Archived from the original (PDF) on 2009-12-29. Cite journal requires |journal= (help)
  17. ^ a b c Quintana; et al. (1999). "Genetic evidence of an early exit of Homo sapiens sapiens from Africa through eastern Africa" (PDF). Cite journal requires |journal= (help)
  18. ^ Dubut, V; Cartault, F; Payet, C; Thionville, MD; Murail, P; et al. (2009). "Complete mitochondrial sequences for haplogroups M23 and M46: insights into the Asian ancestry of the Malagasy population". Human Biology. 81 (4): 495–500. doi:10.3378/027.081.0407. PMID 20067372. S2CID 31809306.
  19. ^ Ricaut, FX; Razafindrazaka, H; Cox, MP; Dugoujon, JM; Guitard, E; Sambo, C; Mormina, M; Mirazon-Lahr, M; Ludes, B; Crubézy, Eric; et al. (2009). "A new deep branch of eurasian mtDNA macrohaplogroup M reveals additional complexity regarding the settlement of Madagascar". BMC Genomics. 10: 605. doi:10.1186/1471-2164-10-605. PMC 2808327. PMID 20003445.
  20. ^ a b Maruyama, Sayaka; Minaguchi, Kiyoshi; Saitou, Naruya (2003). "Sequence polymorphisms of the mitochondrial DNA control region and phylogenetic analysis of mtDNA lineages in the Japanese population". Int J Legal Med. 117 (4): 218–225. doi:10.1007/s00414-003-0379-2. PMID 12845447. S2CID 1224295.
  21. ^ a b c d e f g h i j k l m n Thangaraj et al. (2006), In situ origin of deep rooting lineages of mitochondrial Macrohaplogroup 'M' in India, BMC Genomics 2006, 7:151
  22. ^ Chandrasekar Adimoolam, Kumar S; Sreenath, J; Sarkar, BN; Urade, BP; et al. (2009). "Updating Phylogeny of Mitochondrial DNA Macrohaplogroup M in India: Dispersal of Modern Human in South Asian Corridor". PLOS ONE. 4 (10): e7447. Bibcode:2009PLoSO...4.7447C. doi:10.1371/journal.pone.0007447. PMC 2757894. PMID 19823670.
  23. ^ a b c Olivieri et al. (2006), The mtDNA legacy of the Levantine early Upper Palaeolithic in Africa, Science. 2006 Dec 15;314(5806):1767-70
  24. ^ Hudjashov, G; Kivisild, T; Underhill, PA; Endicott, P; Sanchez, JJ; Lin, AA; Shen, P; Oefner, P; et al. (2007). "Revealing the prehistoric settlement of Australia by Y chromosome and mtDNA analysis". Proceedings of the National Academy of Sciences of the United States of America. 104 (21): 8726–30. Bibcode:2007PNAS..104.8726H. doi:10.1073/pnas.0702928104. PMC 1885570. PMID 17496137.
  25. ^ Ghezzi; et al. (2005). "Mitochondrial DNA haplogroup K is associated with a lower risk of Parkinson's disease in Italians". European Journal of Human Genetics. 13 (6): 748–752. doi:10.1038/sj.ejhg.5201425. PMID 15827561.
  26. ^ Michael D. Petraglia; Bridget Allchin (2007), The evolution and history of human populations in South Asia, Springer, ISBN 978-1-4020-5561-4, ... As haplogroup M, except for the African sub-clade M1, is not notably present in regions west of the Indian subcontinent, while it covers the majority of Indian mtDNA variation ...
  27. ^ Endicott, Phillip; Metspalu, Mait; Stringer, Chris; Macaulay, Vincent; Cooper, Alan; Sanchez, Juan J. (2006-12-20). "Multiplexed SNP Typing of Ancient DNA Clarifies the Origin of Andaman mtDNA Haplogroups amongst South Asian Tribal Populations". PLOS ONE. 1 (1): e81. Bibcode:2006PLoSO...1...81E. doi:10.1371/journal.pone.0000081. PMC 1766372. PMID 17218991.
  28. ^ The 200,000-Year Evolution of Homo sapiens sapiens Language and Myth Families based on the mtDNA Phylotree, Fossil mtDNA and Archaeology: A Thought Experiment (2014)[1]
  29. ^ Hill, C.; Soares, P.; Mormina, M.; MacAulay, V.; Clarke, D.; Blumbach, P. B.; Vizuete-Forster, M.; Forster, P.; Bulbeck, D.; Oppenheimer, S.; Richards, M. (2006). "A Mitochondrial Stratigraphy for Island Southeast Asia". American Journal of Human Genetics. 80 (1): 29–43. doi:10.1086/510412. PMC 1876738. PMID 17160892.
  30. ^ Hill, C; Soares, P; Mormina, M; Macaulay, V; Clarke, D; Blumbach, PB; Vizuete-Forster, M; Forster, P; Bulbeck, D; Oppenheimer, S; Richards, M (2007). "A mitochondrial stratigraphy for island southeast Asia". Am. J. Hum. Genet. 80 (1): 29–43. doi:10.1086/510412. PMC 1876738. PMID 17160892.
  31. ^ a b c d e f g h i j k l m n o p Ji, Fuyun; Sharpley, Mark S.; Derbeneva, Olga; et al. (2012). "Mitochondrial DNA variant associated with Leber hereditary optic neuropathy and high-altitude Tibetans". PNAS. 109 (19): 7391–7396. Bibcode:2012PNAS..109.7391J. doi:10.1073/pnas.1202484109. PMC 3358837. PMID 22517755.
  32. ^ a b c d e f Umetsu, Kazuo; Tanaka, Masashi; Yuasa, Isao; et al. (2005). "Multiplex amplified product-length polymorphism analysis of 36 mitochondrial single-nucleotide polymorphisms for haplogrouping of East Asian populations". Electrophoresis. 26 (1): 91–98. doi:10.1002/elps.200406129. PMID 15624129. S2CID 44989190.
  33. ^ Asari, Masaru; Umetsu, Kazuo; Adachi, Noboru; et al. (2007). "Utility of haplogroup determination for forensic mtDNA analysis in the Japanese population". Legal Medicine. 9 (5): 237–240. doi:10.1016/j.legalmed.2007.01.007. PMID 17467322.
  34. ^ a b c d Zheng, H-X; Yan, S; Qin, Z-D; Wang, Y; Tan, J-Z; et al. (2011). "Major Population Expansion of East Asians Began before Neolithic Time: Evidence of mtDNA Genomes". PLOS ONE. 6 (10): e25835. Bibcode:2011PLoSO...625835Z. doi:10.1371/journal.pone.0025835. PMC 3188578. PMID 21998705.
  35. ^ Edwin; et al. (2002). "Mitochondrial DNA diversity among five tribal populations of southern India" (PDF). Current Science. 83.
  36. ^ Kim, W; Yoo, T-K; Shin, D-J; Rho, H-W; Jin, H-J; et al. (2008). "Mitochondrial DNA Haplogroup Analysis Reveals no Association between the Common Genetic Lineages and Prostate Cancer in the Korean Population". PLOS ONE. 3 (5): e2211. Bibcode:2008PLoSO...3.2211K. doi:10.1371/journal.pone.0002211. PMC 2376063. PMID 18493608.
  37. ^ a b c Jin, H-J; Tyler-Smith, C; Kim, W (2009). "The Peopling of Korea Revealed by Analyses of Mitochondrial DNA and Y-Chromosomal Markers". PLOS ONE. 4 (1): e4210. Bibcode:2009PLoSO...4.4210J. doi:10.1371/journal.pone.0004210. PMC 2615218. PMID 19148289.
  38. ^ a b c d e f g h i j k Derenko, Miroslava; Malyarchuk, Boris; Grzybowski, Tomasz; et al. (2007). "Phylogeographic Analysis of Mitochondrial DNA in Northern Asian Populations". Am. J. Hum. Genet. 81 (5): 1025–1041. doi:10.1086/522933. PMC 2265662. PMID 17924343.
  39. ^ Beom Hong, Seung; Cheol Kim, Ki; Kim, Wook (2014). "Mitochondrial DNA haplogroups and homogeneity in the Korean population". Genes & Genomics. 36 (5): 583–590. doi:10.1007/s13258-014-0194-9. S2CID 16827252.
  40. ^ a b c Tabbada, Kristina A.; Trejaut, Jean; Loo, Jun-Hun; et al. (Jan 2010). "Philippine Mitochondrial DNA Diversity: A Populated Viaduct between Taiwan and Indonesia?". Mol. Biol. Evol. 27 (1): 21–31. doi:10.1093/molbev/msp215. PMID 19755666.
  41. ^ a b Peng, Min-Sheng; Ho Quang, Huy; Pham Dang, Khoa; et al. (2010). "Tracing the Austronesian Footprint in Mainland Southeast Asia: A Perspective from Mitochondrial DNA". Mol. Biol. Evol. 27 (10): 2417–2430. doi:10.1093/molbev/msq131. PMID 20513740.
  42. ^ a b Bodner, Martin; Zimmermann, Bettina; Röck, Alexander; et al. (2011). "Southeast Asian diversity: first insights into the complex mtDNA structure of Laos". BMC Evolutionary Biology. 11: 49. doi:10.1186/1471-2148-11-49. PMC 3050724. PMID 21333001.
  43. ^ Kayser, Manfred; Choi, Ying; van Oven, Mannis; et al. (July 2008). "", (2008) "The Impact of the Austronesian Expansion: Evidence from mtDNA and Y Chromosome Diversity in the Admiralty Islands of Melanesia". Molecular Biology and Evolution. 25 (7): 1362–1374. doi:10.1093/molbev/msn078. PMID 18390477.
  44. ^ Hudjashov, Georgi; Kivisild, Toomas; Underhill, Peter A.; et al. (2007). "Revealing the prehistoric settlement of Australia by Y chromosome and mtDNA analysis". PNAS. 104 (21): 8726–8730. Bibcode:2007PNAS..104.8726H. doi:10.1073/pnas.0702928104. PMC 1885570. PMID 17496137.
  45. ^ Shipley, G. P.; Taylor, D. A.; Tyagi, A.; Tiwari, G.; Redd, A. (2015). "Genetic structure among Fijian island populations". Journal of Human Genetics. 60 (2): 69–75. doi:10.1038/jhg.2014.105. PMID 25566758. S2CID 26321736.
  47. ^ Holden. "MtDNA variation in North, East, and Central African populations gives clues to a possible back-migration from the Middle East". American Association of Physical Anthropologists. Archived from the original on 3 March 2016. Retrieved 13 April 2016.
  48. ^ Luísa Pereira; Viktor Černý; María Cerezo; Nuno M Silva; Martin Hájek; Alžběta Vašíková; Martina Kujanová; Radim Brdička; Antonio Salas (17 March 2010). "Linking the sub-Saharan and West Eurasian gene pools: maternal and paternal heritage of the Tuareg nomads from the African Sahel". European Journal of Human Genetics. 18 (8): 915–923. doi:10.1038/ejhg.2010.21. PMC 2987384. PMID 20234393.
  49. ^ a b c d e Derenko, M; Malyarchuk, B; Bahmanimehr, A; Denisova, G; Perkova, M; et al. (2013). "Complete Mitochondrial DNA Diversity in Iranians". PLOS ONE. 8 (11): e80673. Bibcode:2013PLoSO...880673D. doi:10.1371/journal.pone.0080673. PMC 3828245. PMID 24244704.
  50. ^ a b c d e f g h i j k l m n o p q r s t u v Min-Sheng Peng, Weifang Xu, Jiao-Jiao Song, et al. (2017), "Mitochondrial genomes uncover the maternal history of the Pamir populations." European Journal of Human Genetics https://doi.org/10.1038/s41431-017-0028-8
  51. ^ Witas HW, Tomczyk J, Jędrychowska-Dańska K, Chaubey G, Płoszaj T (2013). "mtDNA from the Early Bronze Age to the Roman Period Suggests a Genetic Link between the Indian Subcontinent and Mesopotamian Cradle of Civilization". PLOS ONE. 8 (9): e73682. Bibcode:2013PLoSO...873682W. doi:10.1371/journal.pone.0073682. PMC 3770703. PMID 24040024.
  52. ^ Cosimo Posth; Gabriel Renaud; Alissa Mittnik; Dorothée G. Drucker; Hélène Rougier; Christophe Cupillard; Frédérique Valentin; Corinne Thevenet; Anja Furtwängler; Christoph Wißing; Michael Francken; Maria Malina; Michael Bolus; Martina Lari; Elena Gigli; Giulia Capecchi; Isabelle Crevecoeur; Cédric Beauval; Damien Flas; Mietje Germonpré; Johannes van der Plicht; Richard Cottiaux; Bernard Gély; Annamaria Ronchitelli; Kurt Wehrberger; Dan Grigorescu; Jiří Svoboda; Patrick Semal; David Caramelli; Hervé Bocherens; Katerina Harvati; Nicholas J. Conard; Wolfgang Haak; Adam Powell (March 21, 2016). "Pleistocene Mitochondrial Genomes Suggest a Single Major Dispersal of Non-Africans and a Late Glacial Population Turnover in Europe". Current Biology. 26 (6): 827–833. doi:10.1016/j.cub.2016.01.037. hdl:2440/114930. PMID 26853362. S2CID 140098861.
  53. ^ van de Loosdrecht; et al. (2018-03-15). "Pleistocene North African genomes link Near Eastern and sub-Saharan African human populations". Science. 360 (6388): 548–552. Bibcode:2018Sci...360..548V. doi:10.1126/science.aar8380. ISSN 0036-8075. PMID 29545507.
  54. ^ Reyhan Yaka. "Archaeogenetics of Late Iron Age Çemialo Sırtı, Batman: Investigating maternal genetic continuity in North Mesopotamia since the Neolithic". bioRxiv 10.1101/172890.
  55. ^ Schuenemann, Verena J.; et al. (2017). "Ancient Egyptian mummy genomes suggest an increase of Sub-Saharan African ancestry in post-Roman periods". Nature Communications. 8: 15694. Bibcode:2017NatCo...815694S. doi:10.1038/ncomms15694. PMC 5459999. PMID 28556824.
  56. ^ Fregel; et al. (2018). "Ancient genomes from North Africa evidence prehistoric migrations to the Maghreb from both the Levant and Europe". bioRxiv 10.1101/191569.
  57. ^ Konstantina Drosou; Campbell Price; Terence A. Brown (February 2018). "The kinship of two 12th Dynasty mummies revealed by ancient DNA sequencing". Journal of Archaeological Science. 17: 793–797. doi:10.1016/j.jasrep.2017.12.025.
  58. ^ a b c d e f g h i j k l m n o p q r s t u v w x y z aa ab ac Kutanan,W., Kampuansai,J., Srikummool,M., Kangwanpong,D., Ghirotto,S., Brunelli,A. and Stoneking,M., "Complete mitochondrial genomes of Thai and Lao populations indicate an ancient origin of Austroasiatic groups and demic diffusion in the spread of Tai-Kadai languages." Hum. Genet. (2016).
  59. ^ a b c d Kong, Qing-Peng et al 2010, Large-Scale mtDNA Screening Reveals a Surprising Matrilineal Complexity in East Asia and Its Implications to the Peopling of the Region
  60. ^ Jinam, Timothy A.; Hong, Lih-Chun; Phipps, Maude E.; Stoneking, Mark; Ameen, Mahmood; Edo, Juli; Hugo; SNP Consortium, Pan-Asian; Saitou, Naruya (2012). "Evolutionary History of Continental Southeast Asians: 'Early Train' Hypothesis Based on Genetic Analysis of Mitochondrial and Autosomal DNA Data". Mol. Biol. Evol. 29 (11): 3513–3527. doi:10.1093/molbev/mss169. PMID 22729749.
  61. ^ a b c d e f g h i j k l m n o p q r s t u v w x y z aa ab ac ad ae af ag ah ai aj ak al am an ao ap aq ar as at au av aw ax ay az ba bb bc bd be bf bg bh bi bj bk bl bm bn bo bp bq br bs bt bu bv bw bx by bz ca cb cc cd ce cf cg ch ci cj ck cl cm cn co cp cq cr cs ct cu cv cw cx cy cz da db dc dd de df dg dh di dj dk dl dm dn do dp dq dr ds dt du YFull MTree 1.01.14609 as of August 21, 2019
  62. ^ a b c d e f g h i j k l m n Wibhu Kutanan, Rasmi Shoocongdej, Metawee Srikummool, et al. (2020), "Cultural variation impacts paternal and maternal genetic lineages of the Hmong-Mien and Sino-Tibetan groups from Thailand." European Journal of Human Genetics. https://doi.org/10.1038/s41431-020-0693-x
  63. ^ Hartmann et al. 2009, Validation of microarray-based resequencing of 93 worldwide mitochondrial genomes
  64. ^ a b c d e f g h Lippold, S; Xu, H; Ko, A; Li, M; Renaud, G; Butthof, A; Schröder, R; Stoneking, M (2014). "Human paternal and maternal demographic histories: insights from high-resolution Y chromosome and mtDNA sequences". Investig Genet. 5: 13. bioRxiv 10.1101/001792. doi:10.1186/2041-2223-5-13. PMC 4174254. PMID 25254093.
  65. ^ a b c d e Fornarino, Simona; Pala, Maria; Battaglia, Vincenza; et al. (2009). "Mitochondrial and Y-chromosome diversity of the Tharus (Nepal): a reservoir of genetic variation". BMC Evolutionary Biology. 9: 154. doi:10.1186/1471-2148-9-154. PMC 2720951. PMID 19573232.
  66. ^ a b c d e f g h i j k l m n o p q r s Chandrasekar, A; Kumar, S; Sreenath, J; Sarkar, BN; Urade, BP; et al. (2009). "Updating Phylogeny of Mitochondrial DNA Macrohaplogroup M in India: Dispersal of Modern Human in South Asian Corridor". PLOS ONE. 4 (10): e7447. Bibcode:2009PLoSO...4.7447C. doi:10.1371/journal.pone.0007447. PMC 2757894. PMID 19823670.
  67. ^ Malyarchuk, B. A.; Perkova, M. A.; Derenko, M. V.; Vanecek, T.; Lazur, J.; Gomolcak, P. (2008). "Mitochondrial DNA Variability in Slovaks, with Application to the Roma Origin". Annals of Human Genetics. 72 (2): 228–240. doi:10.1111/j.1469-1809.2007.00410.x. PMID 18205894. S2CID 205598108.
  68. ^ Kutanan,W., Kampuansai,J., Brunelli,A., Ghirotto,S., Pittayaporn,P., Ruangchai,S., Schroder,R., Macholdt,E., Srikummool,M., Kangwanpong,D., Hubner,A., Arias,L. and Stoneking,M., "New insights from Thailand into the maternal genetic history of Mainland Southeast Asia." Eur. J. Hum. Genet. (2018).
  69. ^ Peng; et al. (2011). "Tracing the legacy of the early Hainan Islanders - a perspective from mitochondrial DNA". BMC Evolutionary Biology. 11: 46. doi:10.1186/1471-2148-11-46. PMC 3048540. PMID 21324107.
  70. ^ Sukernik, Rem I.; Volodko, Natalia V.; Mazunin, Ilya O.; Eltsov, Nikolai P.; Dryomov, Stanislav V.; Starikovskaya, Elena B. (2012). "Mitochondrial Genome Diversity in the Tubalar, Even, and Ulchi: Contribution to Prehistory of Native Siberians and Their Affinities to Native Americans". American Journal of Physical Anthropology. 148 (1): 123–138. doi:10.1002/ajpa.22050. PMID 22487888.
  71. ^ a b Fedorova, Sardana A; Reidla, Maere; Metspalu, Ene; et al. (2013). "Autosomal and uniparental portraits of the native populations of Sakha (Yakutia): implications for the peopling of Northeast Eurasia". BMC Evolutionary Biology. 13: 127. doi:10.1186/1471-2148-13-127. PMC 3695835. PMID 23782551.
  72. ^ a b c d e f g h i j k l m n o p q Duggan, AT; Whitten, M; Wiebe, V; Crawford, M; Butthof, A; et al. (2013). "Investigating the Prehistory of Tungusic Peoples of Siberia and the Amur-Ussuri Region with Complete mtDNA Genome Sequences and Y-chromosomal Markers". PLOS ONE. 8 (12): e83570. Bibcode:2013PLoSO...883570D. doi:10.1371/journal.pone.0083570. PMC 3861515. PMID 24349531.
  73. ^ a b c d Hongbin Yao, Mengge Wang, Xing Zou, et al., "New insights into the fine-scale history of western-eastern admixture of the northwestern Chinese population in the Hexi Corridor via genome-wide genetic legacy." Mol Genet Genomics 2021 Mar 1. doi: 10.1007/s00438-021-01767-0.
  74. ^ a b Tanaka, Masashi; Cabrera, Vicente M.; González, Ana M.; et al. (October 2004). "Mitochondrial Genome Variation in Eastern Asia and the Peopling of Japan". Genome Res. 14 (10): 1832–1850. doi:10.1101/gr.2286304. PMC 524407. PMID 15466285.
  75. ^ a b c d e f g h i j k l m n o p q r s t u v w x y z aa ab ac ad ae af ag ah ai aj ak Behar et al., 2012b
  76. ^ a b c Derenko, M; Malyarchuk, B; Denisova, G; Perkova, M; Rogalla, U; et al. (2012). "Complete Mitochondrial DNA Analysis of Eastern Eurasian Haplogroups Rarely Found in Populations of Northern Asia and Eastern Europe". PLOS ONE. 7 (2): e32179. Bibcode:2012PLoSO...732179D. doi:10.1371/journal.pone.0032179. PMC 3283723. PMID 22363811.
  77. ^ Juras, A.; Krzewinska, M.; Nikitin, A.G.; Ehler, E.; Chylenski, M.; Lukasik, S.; Krenz-Niedbala, M.; Sinika, V.; Piontek, J.; Ivanova, S.; Dabert, M.; Gotherstrom, A. (2017). "Diverse origin of mitochondrial lineages in Iron Age Black Sea Scythians". Sci Rep. 7: 43950. Bibcode:2017NatSR...743950J. doi:10.1038/srep43950. PMC 5339713. PMID 28266657.
  78. ^ a b c Ko, Albert Min-Shan; Chen, Chung-Yu; Fu, Qiaomei; Delfin, Frederick; Li, Mingkun; Chiu, Hung-Lin; Stoneking, Mark; Ko, Ying-Chin (2014). "Early Austronesians: into and out of Taiwan". The American Journal of Human Genetics. 94 (3): 426–436. doi:10.1016/j.ajhg.2014.02.003. PMC 3951936. PMID 24607387.
  79. ^ Hwan Young Lee, Ji-Eun Yoo, Myung Jin Park, Ukhee Chung, Chong-Youl Kim, and Kyoung-Jin Shin, "East Asian mtDNA haplogroup determination in Koreans: Haplogroup-level coding region SNP analysis and subhaplogroup-level control region sequence analysis." Electrophoresis (2006). DOI 10.1002/elps.200600151.
  80. ^ a b c d e f g h i j k l m n o p q r s t u v w x y z aa ab ac ad ae af ag MtDNA Haplotree at Family Tree DNA
  81. ^ a b c Dandan Yu, Xiaoyun Jia, A-Mei Zhang, Shiqiang Li, Yang Zou, Qingjiong Zhang, and Yong-Gang Yao (2010), "Mitochondrial DNA Sequence Variation and Haplogroup Distribution in Chinese Patients with LHON and m.14484T.C." PLoS ONE 5(10): e13426. doi:10.1371/journal.pone.0013426
  82. ^ Yanli Ji, A-Mei Zhang, Xiaoyun Jia, et al. (2008), "Mitochondrial DNA Haplogroups M7b102 and M8a Affect Clinical Expression of Leber Hereditary Optic Neuropathy in Chinese Families with the m.11778G/A Mutation." The American Journal of Human Genetics 83, 760–768, December 12, 2008. DOI 10.1016/j.ajhg.2008.11.002.
  83. ^ a b c d e f g h Dan Zhao, Yingying Ding, Haijiang Lin, Xiaoxiao Chen, Weiwei Shen, Meiyang Gao, Qian Wei, Sujuan Zhou, Xing Liu, and Na He (2019), "Mitochondrial Haplogroups N9 and G Are Associated with Metabolic Syndrome Among Human Immunodeficiency Virus-Infected Patients in China." AIDS Research and Human Retroviruses, Jun 2019, 536-543. http://doi.org/10.1089/aid.2018.0151
  84. ^ Dongsheng Lu, Haiyi Lou, Kai Yuan, et al. (2016), "Ancestral Origins and Genetic History of Tibetan Highlanders." The American Journal of Human Genetics 99, 580–594, September 1, 2016.
  85. ^ a b c d e f g h i Longli Kang, Hong-Xiang Zheng, Menghan Zhang, et al. (2016), "MtDNA analysis reveals enriched pathogenic mutations in Tibetan highlanders." Scientific Reports | 6:31083 | DOI: 10.1038/srep31083.
  86. ^ a b c d Monika Summerer, Jürgen Horst, Gertraud Erhart, et al. (2014), "Large-scale mitochondrial DNA analysis in Southeast Asia reveals evolutionary effects of cultural isolation in the multi-ethnic population of Myanmar." BMC Evolutionary Biology 2014, 14:17. http://www.biomedcentral.com/1471-2148/14/17
  87. ^ Max Ingman and Ulf Gyllensten (2007), "Rate variation between mitochondrial domains and adaptive evolution in humans." Human Molecular Genetics, 2007, Vol. 16, No. 19, 2281–2287. doi:10.1093/hmg/ddm180
  88. ^ a b c d e f g h i j k l Pankratov, V., Litvinov, S., Kassian, A., et al., "East Eurasian ancestry in the middle of Europe: genetic footprints of Steppe nomads in the genomes of Belarusian Lipka Tatars." Sci Rep 6, 30197 (2016). https://doi.org/10.1038/srep30197
  89. ^ Rebecca S. Just, Melissa K. Scheible, Spence A. Fast, et al. (2015), "Full mtGenome reference data: Development and characterization of 588 forensic-quality haplotypes representing three U.S. populations." Forensic Science International: Genetics 14 (2015) 141–155. http://dx.doi.org/10.1016/j.fsigen.2014.09.021
  90. ^ a b c d e f g h i j k l m n Wibhu Kutanan, Jatupol Kampuansai, Andrea Brunelli, et al. (2018), "New insights from Thailand into the maternal genetic history of Mainland Southeast Asia." European Journal of Human Genetics (2018) 26:898–911. https://doi.org/10.1038/s41431-018-0113-7
  91. ^ a b Qing-Peng Kong, Yong-Gang Yao, Chang Sun, et al. (2003), "Phylogeny of East Asian Mitochondrial DNA Lineages Inferred from Complete Sequences." Am. J. Hum. Genet. 73:671–676, 2003.
  92. ^ a b c Duong,N.T., Macholdt,E., Ton,N.D., et al., "Complete human mtDNA genome sequences from Vietnam and the phylogeography of Mainland Southeast Asia." Sci Rep 8 (1), 11651 (2018).
  93. ^ Yang Zou, Xiaoyun Jia, A-Mei Zhang, et al. (2010), "The MT-ND1 and MT-ND5 genes are mutational hotspots for Chinese families with clinical features of LHON but lacking the three primary mutations." Biochemical and Biophysical Research Communications Volume 399, Issue 2, 20 August 2010, Pages 179-185. https://doi.org/10.1016/j.bbrc.2010.07.051
  94. ^ a b c d e f g h Jiang,C., Cui,J., Liu,F., Gao,L., Luo,Y., Li,P., Guan,L. and Gao,Y., "Mitochondrial DNA 10609T Promotes Hypoxia-Induced Increase of Intracellular ROS and Is a Risk Factor of High Altitude Polycythemia." PLoS ONE 9 (1), E87775 (2014).
  95. ^ Kong QP, Sun C, Wang HW, Zhao M, Wang WZ, Zhong L, Hao XD, Pan H, Wang SY, Cheng YT, Zhu CL, Wu SF, Liu LN, Jin JQ, Yao YG, Zhang YP. "Large-scale mtDNA screening reveals a surprising matrilineal complexity in east Asia and its implications to the peopling of the region." Mol Biol Evol. 2011 Jan;28(1):513-22. doi: 10.1093/molbev/msq219. Epub 2010 Aug 16. PMID: 20713468.
  96. ^ a b c d Jia Liu, Li-Dong Wang, Yan-Bo Sun, et al. (2012), "Deciphering the Signature of Selective Constraints on Cancerous Mitochondrial Genome." Mol. Biol. Evol. 29(4):1255–1261. doi:10.1093/molbev/msr290
  97. ^ a b c d e f g h i j k l m n o p q r s Miroslava Derenko, Galina Denisova, Boris Malyarchuk, Irina Dambueva, and Boris Bazarov, "Mitogenomic diversity and differentiation of the Buryats." Journal of Human Genetics (2018) 63:71–81. https://doi.org/10.1038/s10038-017-0370-2
  98. ^ a b Boris Malyarchuk, Andrey Litvinov, Miroslava Derenko, et al. (2017), "Mitogenomic diversity in Russians and Poles." FSI Genetics Volume 30, p51-56, September 01, 2017. DOI:https://doi.org/10.1016/j.fsigen.2017.06.003
  99. ^ Marchi N, Hegay T, Mennecier P, et al. (2017), "Sex-specific genetic diversity is shaped by cultural factors in Inner Asian human populations." American Journal of Physical Anthropology 2017 Apr;162(4):627-640. DOI: 10.1002/ajpa.23151.
  100. ^ a b Hua-Wei Wang, Xiaoyun Jia, Yanli Ji, et al. (2008), "Strikingly different penetrance of LHON in two Chinese families with primary mutation G11778A is independent of mtDNA haplogroup background and secondary mutation G13708A." Mutation Research 643 (2008) 48–53. doi:10.1016/j.mrfmmm.2008.06.004
  101. ^ a b Mielnik-Sikorska M, Daca P, Malyarchuk B, Derenko M, Skonieczna K, et al. (2013), "The History of Slavs Inferred from Complete Mitochondrial Genome Sequences." PLoS ONE 8(1): e54360. doi:10.1371/journal.pone.0054360
  102. ^ Gülşah Merve Kılınç, Natalija Kashuba, Reyhan Yaka, et al. (2018), "Investigating Holocene human population history in North Asia using ancient mitogenomes." Scientific Reports (2018) 8:8969 | DOI:10.1038/s41598-018-27325-0
  103. ^ a b Boris Malyarchuk, Miroslava Derenko, Galina Denisova, and Olga Kravtsova (2010), "Mitogenomic Diversity in Tatars from the Volga-Ural Region of Russia." Mol. Biol. Evol. 27(10):2220–2226. doi:10.1093/molbev/msq065
  104. ^ Jun-Hun Loo, Jean A Trejaut, Ju-Chen Yen, et al. (2014), "Mitochondrial DNA association study of type 2 diabetes with or without ischemic stroke in Taiwan." BMC Res Notes 2014; 7: 223. Published online 2014 Apr 9. doi: 10.1186/1756-0500-7-223
  105. ^ a b Dryomov SV, Nazhmidenova AM, Starikovskaya EB, Shalaurova SA, Rohland N, Mallick S, et al. (2021), "Mitochondrial genome diversity on the Central Siberian Plateau with particular reference to the prehistory of northernmost Eurasia." PLoS ONE 16(1):e0244228. https://doi.org/10.1371/journal. pone.0244228
  106. ^ a b Wang, C. Y., Li, H., Hao, X. D., Liu, J., Wang, J. X., Wang, W. Z., Kong, Q. P., & Zhang, Y. P. (2011). "Uncovering the profile of somatic mtDNA mutations in Chinese colorectal cancer patients." PloS one, 6(6), e21613. https://doi.org/10.1371/journal.pone.0021613
  107. ^ A-Mei Zhang, Xiaoyun Jia, Yong-Gang Yao, and Qingjiong Zhang (2008), "Co-occurrence of A1555G and G11778A in a Chinese family with high penetrance of Leber’s hereditary optic neuropathy." Biochemical and Biophysical Research Communications 376 (2008) 221–224. doi:10.1016/j.bbrc.2008.08.128
  108. ^ Choongwon Jeong, Ke Wang, Shevan Wilkin, William Timothy Treal Taylor, Bryan K. Miller, Jan H. Bemmann, Raphaela Stahl, Chelsea Chiovelli, Florian Knolle, Sodnom Ulziibayar, Dorjpurev Khatanbaatar, Diimaajav Erdenebaatar, Ulambayar Erdenebat, Ayudai Ochir, Ganbold Ankhsanaa, Chuluunkhuu Vanchigdash, Battuga Ochir, Chuluunbat Munkhbayar, Dashzeveg Tumen, Alexey Kovalev, Nikolay Kradin, Bilikto A. Bazarov, Denis A. Miyagashev, Prokopiy B. Konovalov, Elena Zhambaltarova, Alicia Ventresca Miller, Wolfgang Haak, Stephan Schiffels, Johannes Krause, Nicole Boivin, Myagmar Erdene, Jessica Hendy, and Christina Warinner, "A Dynamic 6,000-Year Genetic History of Eurasia’s Eastern Steppe." Cell, Volume 183, Issue 4, 2020, Pages 890-904.e29, ISSN 0092-8674, https://doi.org/10.1016/j.cell.2020.10.015.
  109. ^ a b Mian Zhao, Qing-Peng Kong, Hua-Wei Wang, et al. (2009), "Mitochondrial genome evidence reveals successful Late Paleolithic settlement on the Tibetan Plateau." PNAS, vol. 106, no. 50, 21230–21235. http://www.pnas.org/cgi/doi/10.1073/pnas.0907844106
  110. ^ Longli Kang, Hong-Xiang Zheng, Feng Chen, et al. (2013), "mtDNA Lineage Expansions in Sherpa Population Suggest Adaptive Evolution in Tibetan Highlands." Molecular Biology and Evolution, Volume 30, Issue 12, December 2013, Pages 2579–2587, https://doi.org/10.1093/molbev/mst147.
  111. ^ a b c d Kong, Qing-Peng; Bandelt, Hans-Jürgen; Sun, Chang; et al. (2006). "Updating the East Asian mtDNA phylogeny: a prerequisite for the identification of pathogenic mutations". Human Molecular Genetics. 15 (13): 2076–2086. doi:10.1093/hmg/ddl130. PMID 16714301.
  112. ^ Xiaoming Zhang, Chunmei Li, Yanan Zhou, et al. (2020), "A Matrilineal Genetic Perspective of Hanging Coffin Custom in Southern China and Northern Thailand." iScience 23, 101032, April 24, 2020. https://doi.org/10.1016/j.isci.2020.101032
  113. ^ Dryomov, S.V., Starikovskaya, E.B., Nazhmidenova, A.M. et al. Genetic legacy of cultures indigenous to the Northeast Asian coast in mitochondrial genomes of nearly extinct maritime tribes. BMC Evol Biol 20, 83 (2020). https://doi.org/10.1186/s12862-020-01652-1
  114. ^ Cheng-Ye Wang and Zhong-Bao Zhao (2012), "Somatic mtDNA mutations in lung tissues of pesticide-exposed fruit growers." Toxicology 291 (2012) 51– 55. doi:10.1016/j.tox.2011.10.018
  115. ^ Ingman, M.; Kaessmann, H.; Paabo, S.; Gyllensten, U. (2000). "Mitochondrial genome variation and the origin of modern humans". Nature. 408 (6813): 708–713. Bibcode:2000Natur.408..708I. doi:10.1038/35047064. PMID 11130070. S2CID 52850476.
  116. ^ Yao, Yong-Gang; Kong, Qing-Peng; Wang, Cheng-Ye; et al. (2004). "Different Matrilineal Contributions to Genetic Structure of Ethnic Groups in the Silk Road Region in China". Mol. Biol. Evol. 21 (12): 2265–2280. doi:10.1093/molbev/msh238. PMID 15317881.
  117. ^ Fedorova, Sardana A; Reidla, Maere; Metspalu, Ene; et al. (2013). "Autosomal and uniparental portraits of the native populations of Sakha (Yakutia): implications for the peopling of Northeast Eurasia". BMC Evolutionary Biology. 13: 127. doi:10.1186/1471-2148-13-127. PMC 3695835. PMID 23782551.
  118. ^ a b c d e f g h i j k l m n o p Kutanan, Wibhu; Kampuansai, Jatupol; Changmai, Piya; et al. (2018). "Contrasting maternal and paternal genetic variation of hunter-gatherer groups in Thailand". Scientific Reports. 8 (1): 1536. Bibcode:2018NatSR...8.1536K. doi:10.1038/s41598-018-20020-0. PMC 5784115. PMID 29367746.
  119. ^ a b c Scholes, Clarissa; Siddle, Katherine; Ducourneau, Axel; et al. (2011). "Genetic Diversity and Evidence for Population Admixture in Batak Negritos from Palawan". American Journal of Physical Anthropology. 146 (1): 62–72. doi:10.1002/ajpa.21544. PMID 21796613.
  120. ^ "M24'41 MTree".
  121. ^ Malyarchuk, B. et al 2008c, Mitochondrial DNA Variability in Slovaks, with Application to the Roma Origin
  122. ^ "M39'70 MTree".
  123. ^ https://yfull.com/mtree/M42'74/
  124. ^ Zhang,X., Qi,X., Yang,Z., et al., "Analysis of mitochondrial genome diversity identifies new and ancient maternal lineages in Cambodian aborigines." Nat Commun 4, 2599 (2013).
  125. ^ "M55'77 MTree".
  126. ^ "M77 MTree".
  127. ^ "M62'68 MTree".
  128. ^ "M68 MTree".
  129. ^ a b Wibhu Kutanan, Jatupol Kampuansai, Piya Changmai, et al. (2018), "Contrasting maternal and paternal genetic variation of hunter-gatherer groups in Thailand." Scientific Reports volume 8, Article number: 1536. doi:10.1038/s41598-018-20020-0
  130. ^ "M73'79 MTree".
  131. ^ "M73 MTree".
  132. ^ "M79 MTree".
  133. ^ Comas et al. (2004), Admixture, migrations, and dispersals in Central Asia: evidence from maternal DNA lineages, European Journal of Human Genetics (2004) 12, 495–504.