Haplogroup M (mtDNA): Wikis


Note: Many of our articles have direct quotes from sources you can cite, within the Wikipedia article! This article doesn't yet, but we're working on it! See more info or our list of citable articles.


From Wikipedia, the free encyclopedia

Haplogroup M

Migration map4.png

Time of origin 60,000 years before present
Place of origin Asia[1][2][3][4][5] or Africa[6][7]
Ancestor L3
Descendants M1, 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 mutations 263, 489, 10400, 14783, 15043[8]

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

All mtDNA haplogroups found outside of Africa are descendants of either haplogroup M or its sibling haplogroup N.[9] The geographical distributions of M and N are associated with discussions concerning out of Africa migrations and the subsequent colonization of the rest of the world. In particular it is often taken to indicate that it is very likely that there was one particularly major prehistoric migration of humans out of Africa, and that both M and N were part of this colonization process.[10]



There is an ongoing debate concerning geographical origins of Haplogroup M and its sibling haplogropu N. Both these lineages are thought to have been the main lineages involved in the out of Africa migration because all indigenous lineages found outside Africa belong to either haplogroup M or haplogroup N. Yet to be conclusively determined is 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 the fact that it is found both in Africa and outside of Africa.[3]

It is generally accepted that haplogroup M evolved shortly after the emergence of its parent clade haplogroup L3. Apart from haplogroup M and its sibling haplogroup N, the numerous other subclades of L3 are largely restricted to Africa, which suggests that L3 arose in Africa. In Africa, haplogroups M, specifically its subclade M1, has a fairly restricted distribution, being found mainly in East and North Africa at low to moderate frequencies. The limited distribution of haplogroup M in Africa and its widespread presence outside Africa, suggests that this lineage emerged very close to the time of the Out of Africa migration, either shortly before or shortly after the exit from Africa.


Haplogroup M1

Much of discussion concerning the origins of haplogroup M has been related to its subclade haplogroup M1, which is the only variant of macrohaplogroup M found in Africa.[9] Three possibilities were being considered as potential explanations for the presence of M1 in Africa:

  1. M1 evolved through an independent mutation.[11]
  2. M was present in the ancient population which later gave rise to both M1 in Africa, and M more generally found in Eurasia.[11]
  3. The presence of M1 in Africa is the result of a back-migration from Asia which occurred sometime after the Out of Africa migration.[4]

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.[12][13] The contemporary populations of Madagascar were formed in the last 2,000 years by the admixture of African and Southeast Asian (Austronesian) populations. M23 seems to be restricted to Madagascar as it was not detected anywhere else. M23 could have been brought to Madagascar from Asia where most deep rooted subclades of Haplogroup M are found.

Asian origin Theory

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 have never been discovered outside Africa. The hypothesis of Asia as the place of origin of macrohaplogroup M is supported by the following:

  1. The highest frequencies worldwide of macrohaplogroup M are observed in Asia, specifically in India and Bangladesh, where frequencies range from 60%-80%.*[1][14]
  2. With the exception of the African specific M1, India has several M lineages that emerged directly from the root of haplogroup M.[1][14]
  3. Only two subclades of haplogroup M, M1 and M23, are found in Africa, whereas numerous subclades are found outside Africa[1][3] (with some discussion possible only about sub-clade M1, concerning which see below).
  1. 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 before the Out of Africa migration, it would be expected to have a more widespread distribution [14]
  • 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.[3]
  • The geographic distribution of M1 in Africa is predominantly North African/supra-equatorial[3] and is largely confined to Afro-Asiatic speakers,[15] which is inconsistent with the Sub-Saharan distribution of sub-clades of haplogroups L3 and L2 that have similar time depths.[9]
  • One of the basal lineages of M1 lineages has been found in Northwest Africa and in the Near East but is abssent in East Africa.[3]
  • 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.[3][9] M1 has also been detected in Central Asia, seemingly reaching as far as Tibet.[3]
  • 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.[15]
  • 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.[15]

African origin hypothesis

According to this theory, haplogroups M and N arose from L3 in an East African population that had been isolated from other African populations. Members of this population were involved in the out Africa migration and only carried M and N lineages. With the possible exception of haplogroup M1, all other M and N clades in Africa were lost by genetic drift[7][11] .

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.[11] 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."[7]
  2. Ancestral L3 lineages that gave rise to M and N have not been discovered outside Africa.
  3. Specifically concerning at least M1:
  • Haplogroup M1 is largely restricted to Africa where the highest frequencies of M1 can be found in East Africa, particularly in Ethiopia. M1 is found in Europe and the Near East but at considerably lower frequencies than in Africa.[16]
  • Early studies once reported the age of haplogroup M1 to be similar to that of haplogroup M. Quintana et al. (1999) suggested that the age of the then-East African specific haplogroup M1, calculated using RFLP data (48,000±15,000), was compatible with that of the Indian-specific haplogroup M lineages (56,000±7,000).[11]
  • Sun et al. (2005) argue that the similarities between haplogroup M1 and the Indian-specific sub-clades of macrohaplogroup M are the result of random parallel mutations based on the lack of the variations that characterize M1 that they observed in their reconstructed ancestral motifs of all Indian M haplogroups.[17]


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.[2][18]

A 2008 study by Abu-Amero et al., suggests that the Arabian Peninsula, may have been the main route out 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.[5]


M is the single most common mtDNA haplogroup in Asia,[19] and peaks in Bangladesh[9] where it represents two thirds of the maternal lineages, and is ubiquitous in India[20] where it has a 60% frequency.[1]

Due to its great age, haplogroup M is an mtDNA lineage which does not correspond well to present-day ethnic groups, as it spans Siberian, Native American, East Asian, Southeast Asian, Central Asian, South Asian, Melanesian populations at a considerable frequency .

Among the descendants of M are C, D, E, G, Q, and Z, with Z and G being observed in North Eurasian populations, C and D being shared between North Eurasian and Native American populations, E being observed in Southeast Asian populations, and Q being observed in 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.[1]

Location of M subclades around the World

Subgroups distribution

  • Haplogroup M1 [1] - found in North Africa, Horn of Africa, Mediterranean, and Middle East[1][3]
  • Haplogroup M2 [2] - found in South Asia, with highest concentrations in SE India and Bangladesh;[9] oldest haplogroup M lineage on the Indian sub-continent.[1]
    • M2a - most common in Bangladesh
    • M2b - most common in SE India
  • Haplogroup M3 [3] - found mainly in South Asia, with highest concentrations in west and NW India[9]
  • M4"45
    • Haplogroup M4 [4] - found mainly in South Asia but some sequences in Eastern Saudi Arabia
    • Haplogroup M30 - mainly in India, found in Middle East and North Africa.
    • Haplogroup M37
      • Haplogroup M37a - found in Gujarat, India[14]
  • Haplogroup M5 [5] - found in South Asia
  • Haplogroup M6 [6] - found mainly in South Asia, with highest concentrations in mid-eastern India and Kashmir[9]
  • Haplogroup M7 [7] - found in East Asia, especially in Japan
  • Haplogroup M8
  • Haplogroup M9 [12] - found in East and Southeast Asia
    • Haplogroup E - a subclade of M9 - found especially in SE Asia
  • Haplogroup M10 [13] - small clade found in East Asia, Southeast Asia, Bangladesh, Central Asia, and southern Siberia
  • Haplogroup M11 [14] - small clade found especially among the Chinese and some Bangladeshis
  • Haplogroup M12'G
    • Haplogroup M12 [15] - small clade found in Japan
    • Haplogroup G [16] - found especially in Japan with some isolated instances in diverse places of Asia
  • Haplogroup M21 [17] - small clade found in SE Asia and Bangladesh
  • Haplogroup M27 [18] - found in Melanesia
  • Haplogroup M28 [19] - found in Melanesia
  • Haplogroup M29'Q
    • Haplogroup M29 [20] - found in Melanesia
    • Haplogroup Q [21] - found in Melanesia and Australia (Aborigines)
  • Haplogroup M31 [22] - found among the Onge, in the Andaman Islands[14]
  • Haplogroup M32 [23] - found in Andaman Islands
  • Haplogroup M33 [24] - small clade found in South Asia and Belarus
    • Haplogroup M33a - found in Gujarat, India[14]
  • Haplogroup M34 [25] - small clade found in South Asia
  • Haplogroup M35 [26] - small clade found in South Asia and Slovakia
  • Haplogroup M39 [27] - found in South Asia[14]
  • Haplogroup M40 [28] - found in South Asia[14]
  • Haplogroup M41 - found in South Asia
  • Haplogroup M42 [29] - found among Australian Abrorigines
  • Haplogroup M48 [30] - rare clade found at least in Saudi Arabia
  • Haplogroup D - found in Eastern Eurasia, Native Americans, Central Asia[21] and occasionally also in West Asia and Northern Europe.



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[8] and subsequent published research.

  • M
    • M1
      • M1a
        • M1a1
          • M1a1a
          • M1a1b
            • M1a1b1
          • M1a1c
          • M1a1d
          • M1a1e
          • M1a1f
        • M1a2
          • M1a2a
          • M1a2b
        • M1a3
          • M1a3a
          • M1a3b
        • M1a4
        • M1a5
      • M1b
        • M1b1
          • M1b1a
        • M1b2
          • M1b2a
    • M2
      • M2a
        • M2a1
        • M2a2
        • M2a3
      • M2b
        • M2b1
        • M2b2
    • M3
      • M3a
    • M4"45
      • M4
        • M4a
        • M4b
          • M4b1
      • M18'38
        • M18
        • M38
      • M30
        • M30a
        • M30b
        • M30c
          • M30c1
            • M30c1a
              • M30c1a1
        • M30d
      • M37
        • M37a
      • M43
      • M45
    • M5
      • M5a
        • M5a1
          • M5a1a
          • M5a1b
        • M5a2
          • M5a2a
    • M6
    • M7
      • M7a
        • M7a1
          • M7a1a
            • M7a1a1
              • M7a1a1a
            • M7a1a2
            • M7a1a3
            • M7a1a4
              • M7a1a4a
            • M7a1a5
            • M7a1a6
            • M7a1a7
          • M7a1b
        • M7a2
          • M7a2a
          • M7a2b
      • M7b'c'd'e
        • M7b'd
          • M7b
            • M7b1'2
              • M7b1
              • M7b2
                • M7b2a
                • M7b2b
                • M7b2c
            • M7b3
              • M7b3a
          • M7d
        • M7c'e
          • M7c
            • M7c1
              • M7c1a
              • M7c1b
                • M7c1b1
            • M7c2
              • M7c2a
            • M7c3
              • M7c3a
              • M7c3b
              • M7c3c
          • M7e
    • M8
      • M8a
        • M8a1
        • M8a2
          • M8a2a
          • M8a2b
      • CZ
    • M9
      • M9a'b'c'd
        • M9a'c'd
          • M9a'd
            • M9a
              • M9a1
              • M9a2
              • M9a3
            • M9d
          • M9c
        • M9b
      • E
    • M10'42
      • M10
        • M10a
          • M10a1
          • M10a2
      • M42
        • M42a
    • M11
      • M11a
      • M11b
    • M12'G
      • M12
        • M12a
      • G
    • M13
      • M13a
        • M13a1
    • M14
    • M15
    • M21
      • M21a'b
        • M21a
        • M21b
      • M21c'd
        • M21c
        • M21d
    • M22
    • M23
    • M25
    • M27
      • M27a
      • M27b
      • M27c
    • M28
      • M28a
      • M28b
    • M29'Q
      • M29
        • M29a
        • M29b
      • Q
    • M31'32
      • M31
        • M31a
          • M31a1
            • M31a1a
            • M31a1b
          • M31a2
            • M31a2a
        • M31b
        • M31c
      • M32
        • M32a
    • M33
      • M33a
      • M33b
      • M33c
    • M34
      • M34a
    • M35
      • M35a
      • M35b
    • M36
      • M36a
    • M39
      • M39a
    • M40
      • M40a
    • M41
    • M44'52
      • M44
      • M52
    • M46
    • M47'50
      • M47
      • M50
    • M48
    • M49
    • M51
    • D

See also

Human mitochondrial DNA (mtDNA) haplogroups

  Mitochondrial Eve (L)    
L0 L1 L2 L3   L4 L5 L6
  M N  
CZ D E G Q   A S   R   I W X Y
C Z B F R0   pre-JT P  U
H V J T Former Clusters IWX


  1. ^ 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 2005, 5:26 doi:10.1186/1471-2148-5-26
  2. ^ a b Macaulay et al (2005). Single, Rapid Coastal Settlement of Asia Revealed by Analysis of Complete Mitochondrial Genomes. doi:10.1126/science.1109792. : "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."
  3. ^ a b c d e f g h i Gonzalez et al. (2007), Mitochondrial lineage M1 traces an early human backflow to Africa, BMC Genomics 2007, 8:223 doi:10.1186/1471-2164-8-223
  4. ^ a b Chandrasekar et al. (2007), YAP insertion signature in South Asia, Ann Hum Biol. 2007 Sep-Oct;34(5):582-6.
  5. ^ a b Abu-Amero et al. (2008). Mitochondrial DNA structure in the Arabian Peninsula. BMC Evolutionary Biology. http://www.biomedcentral.com/1471-2148/8/45. 
  6. ^ Kivisild (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. http://www.biomedcentral.com/1471-2156/5/26/ABSTRACT%5D/ABSTRACT/COMMENTS/ADDITIONAL/COMMENTS/abstract/. 
  7. ^ a b c Kivisild et al. (2003). The Genetic Heritage of the Earliest Settlers Persists Both in Indian Tribal and Caste Populations. http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=379225. 
  8. ^ a b van Oven et al. (2009). "Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation". Human Mutation 30 (2): E386-E394. doi:10.1002/humu.20921. http://dx.doi.org/10.1002/humu.20921. 
  9. ^ a b c d e f g h Metspalu et al. year=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. http://www.biomedcentral.com/1471-2156/5/26. 
  10. ^ Macaulay et al (2005). Single, Rapid Coastal Settlement of Asia Revealed by Analysis of Complete Mitochondrial Genomes. doi:10.1126/science.1109792. 
  11. ^ a b c d e Quintana et al (1999). Genetic evidence of an early exit of Homo sapiens sapiens from Africa through eastern Africa. http://www.clas.ufl.edu/users/krigbaum/proseminar/quintana-murci_naturegenetics_1999.pdf. 
  12. ^ Dubut et al. (2009). "Complete mitochondrial sequences for haplogroups M23 and M46: insights into the Asian ancestry of the Malagasy population". Human Biology. doi:10.3378/027.081.0407. http://dx.doi.org/10.3378/027.081.0407. 
  13. ^ Ricaut et al. (2009). "A new deep branch of eurasian mtDNA macrohaplogroup M reveals additional complexity regarding the settlement of Madagascar". BMC Genomics. doi:10.1186/1471-2164-10-605. http://www.biomedcentral.com/1471-2164/10/605. 
  14. ^ 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
  15. ^ 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
  16. ^ Gonzalez et al.,Mitochondrial lineage M1 traces an early human backflow to Africa, BMC Genomics 2007, 8:223 doi:10.1186/1471-2164-8-223
  17. ^ Sun et al. (2006), The Dazzling Array of Basal Branches in the mtDNA Macrohaplogroup M from India as Inferred from Complete Genomes, Molecular Biology and Evolution 2006 23(3):683-690; doi:10.1093/molbev/msj078
  18. ^ Hudjashov, Kivisild et al. (2007). Revealing the prehistoric settlement of Australia by Y chromosome and mtDNA analysis. http://www.pnas.org/content/104/21/8726.full. 
  19. ^ 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 (2005) 13, 748–752.
  20. ^ Edwin et al. (2002), Mitochondrial DNA diversity among five tribal populations of southern India, CURRENT SCIENCE, VOL. 83, NO. 2, 25 JULY 2002
  21. ^ 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.

External links


Up to date as of February 01, 2010

From Familypedia

In human genetics, Haplogroup M is a human mitochondrial DNA (mtDNA) haplogroup.

An enormous haplogroup spanning many continents, the macro-haplogroup M is a branch of the African haplogroup L3, and is believed to have originated in Africa some 60 to 80,000 years before present.

The two haplogroups M and N are believed to represent the initial migration of modern humans out of Africa. Haplogroup M in particular represents the dispersal of modern humans into the Middle East and South Asia some 60 to 80,000 years ago along the southern Asian coastline.

Among the subgroups of M are M1, C, D, E, G, Q, and Z.

Owing to its great age, haplogroup M is one of those mtDNA lineages which does not correspond well to present-day racial groups, as it spans Siberian, East Asian, Southeast Asian, Central Asian, South Asian, Melanesian as well as Ethiopian, Caucasian, and various Middle Eastern groups in lesser frequency.


See also

External links

Human mitochondrial DNA (mtDNA) haplogroups

  most recent common mt-ancestor    
L0   L1  
L2 L3   L4 L5 L6 L7
  M N  
CZ D E G Q   A I O   R   S W X Y
C Z B F pre-HV   pre-JT P  UK
This page uses content from the English language Wikipedia. The original content was at Haplogroup M (mtDNA). The list of authors can be seen in the page history. As with this Familypedia wiki, the content of Wikipedia is available under the Creative Commons License.

This article uses material from the "Haplogroup M (mtDNA)" article on the Genealogy wiki at Wikia and is licensed under the Creative Commons Attribution-Share Alike License.


Got something to say? Make a comment.
Your name
Your email address