Haplogroup M (mtDNA)

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Haplogroup M
Time of origin	60,000 years before present
Place of origin	Asia[1][2][3][4][5]
Ancestor	L3
Descendants	M1, M*, CZ, Q, E, G, D
Defining mutations	263, 489, 10400, 14783, 15043[6]

In human 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.^[7] M and N are the signature haplogroups that define the out of Africa migration and the subsequent colonization of the rest of the world. The global distribution of haplogroups M and N, indicates that very likely, there was one particularly major prehistoric migration of humans out of Africa, and both M and N were part of the same colonization process.^[8]

Contents 1 Origins 1.1 Asian origin hypothesis 1.2 African origin hypothesis 2 Distribution 2.1 Subgroups distribution 3 Subclades 3.1 Tree 4 References 5 See also 6 External links

Origins

There is widespread agreement in the scientific community both concerning the African ancestry of haplogroup L3 (haplogroup M's parent clade),^[3] and also that the Indian sub-continent played a pivotal role in the prehistory and dispersal of haplogroup M. However, whether or not the mutations which define haplogroup M itself first occurred within Asia or Africa has until recently been a subject for ongoing discussion and study.

Much of this discussion has focused upon haplogroup M1, which is the only variant of macrohaplogroup M that is found in Africa.^[7] There are currently three possible scenarios that could explain the presence of M1 in Africa:

1. M1 evolved through an independent mutation.^[9]
2. M was present in the ancient population which later gave rise to M1 in Africa.^[9]
3. The presence of M1 in Africa is the result of a back-migration from Asia.^[4]

Asian origin hypothesis

The hypothesis of Asia as the place of origin of macrohaplogroup M is strongly supported by recent studies from Rajkumar et al. (2005), Olivieri et al. (2006), Gonzalez et al. (2007), and Abu-Amero et al. (2008), which contain new data that substantially contributes to the present understanding of the haplogroup. The evidence in support of this view can be summarized as follows:

1. The fact that primitive lineages of macrohaplogroup M's sibling N clade have been found in southern areas such as India and Australia undermines the African origin hypothesis' proposed coastal route to southern Asia and Oceania for haplogroup M and its suggested continental route to Eurasia for haplogroup N under a two route migration Out-of-Africa scenario.^[10] Similarly, the lack of primitive autochthonous macrohaplogroup M and N sequences in the Arabian Peninsula suggests that this 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]
2. The highest frequencies worldwide of macrohaplogroup M are observed in Asia, specifically in India and Bangladesh, where frequencies range from 60%-80%.^[1][11]
3. The oldest sub-clades of macrohaplogroup M are found in India.^[1][11]
4. Every sub-clade of haplogroup M as well as all of its descendant branches (including those of M's Eurasian sister clade, haplogroup N) are found in Asia and are thought to have originated outside of Africa^[1][3] (with some discussion possible only about sub-clade M1, concerning which see below).
5. Since macrohaplogroup M is geographically restricted in Africa whereas it is prevalent throughout Asia, the only way it could conceivably have originated in Africa is if it had orginated at an ancient time, since it had to spread throughout Asia and the New World where its descendant lineages are presently found. However, it is paradoxical that haplogroup M traveled all that distance yet failed to affect other populations within Africa besides North Africans and Horn Africans.^[11]
6. M1 is the only sub-clade of haplogroup M that has been observed in Africa,^[7] and:

• The most recent studies appear to show that M1 is a relatively recent lineage with a younger coalescence age than the Asian-exclusive M lineages.^[3] This means that there are no very old clades of M represented in Africa.^[7]
• The geographic distribution of M1 in Africa is predominantly North African/supra-equatorial^[3] and is largely confined to Afro-Asiatic speakers,^[12] which is inconsistent with the Sub-Saharan distribution of sub-clades of haplogroups L3 and L2 that have similar time depths.^[7]
• Contrary to the African origin hypothesis, the most ancestral M1 lineages have been found in Northwest Africa and in the Near East rather than 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][7] 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.^[12]
• 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.^[12]

African origin hypothesis

This was the dominant view around the year 2000.^[9] It is supported by the following arguments and evidence.

1. Specifically concerning at least M1:

• 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).^[9]
• 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.^[13]
• Sun et al. (2005) also argue that numerous discrepancies, including the addition of phantom mutations, affected the Rajkumar et al. (2005) study supporting an Asian origin for macrohaplogroup M:

"Rajkumar et al. (2005) provided 23 Indian M sequences that were deemed to be complete. On the basis of their phylogenetic tree, the authors negated the haplogroup status of M3 and M4. However, a site-by-site audit of their sequences revealed that the obtained data are problematic, with numerous basal mutations evidently missed as well as some phantom mutations inflicted."

Distribution

M is the single most common mtDNA haplogroup in Asia,^[14] and peaks in Bangladesh^[7] where it represents two thirds of the maternal lineages, and is ubiquitous in India^[15] 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 as well as Egyptian, Ethiopian, Somali, European, and various Middle Eastern populations in lesser 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] M7 and M8 are widespread Eastern Eurasian lineages.

Subgroups distribution

• Haplogroup M1 [1] - found in North Africa, Horn of Africa, Mediterranean, and Middle East^[3][1]
• Haplogroup M2 [2] - found in South Asia, with highest concentrations in SE India and Bangladesh;^[7] 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^[7]
• Haplogroup M4 [4] - found mainly in South Asia but some sequences in Eastern Saudi Arabia
  • Haplogroup M4a - found in Gujarat, India^[11]
• Haplogroup M5 [5] - found in South Asia
  • Haplogroup M5a - found in Orissa, India^[11]
• Haplogroup M6 [6] - found mainly in South Asia, with highest concentrations in mid-eastern India and Kashmir^[7]
  • Haplogroup M6b - found in Kerala, India^[11]
• Haplogroup M7 [7] - found in East Asia, especially in Japan
• Haplogroup M8
  • Haplogroup M8a: [8] - found in East Asia, especially in Japan
  • Haplogroup CZ
    • Haplogroup C [9] - found especially in Northeast Asia
      • Haplogroup C1 [10] - found in Asia and America (Native Americans and Hispanics in particular)
      • Haplogroup C4
    • Haplogroup Z [11] - found among diverse Eurasian populations: Hazara, Finns, Japanese, Sami and some Russians.
• Haplogroup M9 [12] - found in East and Southeast Asia
  • Haplogroup E (mtDNA) - a subclade of M9 - found especially in SE Asia
• Haplogroup M10 [13] - small clade found in East Asia
• Haplogroup M11 [14] - small clade found especially among the Chinese
• 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
• 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^[11]
• Haplogroup M32 [23] - found in Andaman Islands
• Haplogroup M33 [24] - small clade found in South Asia and Belarus
  • Haplogroup M33a - found in Gujarat, India^[11]
• Haplogroup M34 [25] - small clade found in South Asia
  • Haplogroup M34a - found in Karnataka, India^[11]
• Haplogroup M35 [26] - small clade found in South Asia and Slovakia
• Haplogroup M37
  • Haplogroup M37a - found in Gujarat, India^[11]
• Haplogroup M39 [27] - found in South Asia^[11]
• Haplogroup M40 [28] - found in South Asia^[11]
• Haplogroup M41 - found in South Asia
  • Haplogroup M41b - found in Andhra Pradesh, India^[11]
  • Haplogroup M41c - found in Andrah Pradesh, India^[11]
• 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^[16] and occasionally also in West Asia and Northern Europe.

Subclades

Tree

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^[6] 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
  • M6'16'17
    • M6
      • M6a
        • M6a1
          • M6a1b
    • M16
    • M17
  • 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
      • C
      • Z
  • 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
    • 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
    • M35b
  • M36
    • M36a
  • M39
    • M39a
  • M40
    • M40a
  • M41
  • M44'52
    • M44
    • M52
  • M46
  • M47'50
    • M47
    • M50
  • M48
  • M49
  • M51
  • D

References

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. ^ Macaulay et al (2005). Single, Rapid Coastal Settlement of Asia Revealed by Analysis of Complete Mitochondrial Genomes. doi:10.1126/science.1109792. http://66.102.1.104/scholar?hl=en&lr=&q=cache:nfrkio5UPzMJ:www4.ncsu.edu/~womcmill/GenomeScience_Papers/Macaulayetal(2005)Science.pdf. : "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 2008
6. ^ ^{a b} van Oven, Mannis; Manfred Kayser (13 Oct 2008). "Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation". Human Mutation 30 (2): E386-E394. PMID 18853457 doi:10.1002/humu.20921. http://www3.interscience.wiley.com/journal/121449735/abstract?CRETRY=1&SRETRY=0. Retrieved on 2009-05-20. 
7. ^ ^{a b c d e f g h i j} 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. 
8. ^ Macaulay et al (2005). Single, Rapid Coastal Settlement of Asia Revealed by Analysis of Complete Mitochondrial Genomes. doi:10.1126/science.1109792. http://66.102.1.104/scholar?hl=en&lr=&q=cache:nfrkio5UPzMJ:www4.ncsu.edu/~womcmill/GenomeScience_Papers/Macaulayetal(2005)Science.pdf. 
9. ^ ^{a b c d} Quintana et al. (1999), Genetic evidence of an early exit of Homo sapiens sapiens from Africa through eastern Africa, 1: Nat Genet. 1999 Dec;23(4):437-41.
10. ^ 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: "Two possible out-of-Africa routes have been proposed: A southern coastal route bordering the Read Sea and an Eurasian continental route through the Levant. Based on mitochondrial phylogeography it was proposed that M lineages expanded with the coastal route to southern Asia and Oceania and N lineages by the continental route to Eurasia. However, the posterior detection of primitive N lineages in southern areas as India and Australia weakened that hypothesis."
11. ^ ^{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
12. ^ ^{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
13. ^ 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
14. ^ 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.
15. ^ Edwin et al. (2002), Mitochondrial DNA diversity among five tribal populations of southern India, CURRENT SCIENCE, VOL. 83, NO. 2, 25 JULY 2002
16. ^ 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.

See also

• Genealogical DNA test
• Genetic Genealogy
• Human mitochondrial genetics
• Population Genetics
• Human mitochondrial DNA haplogroups

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

S

R

I

W

X

Y

C

Z

B

F

HV

JT

P

U

H

V

J

T

K

Former Clusters IWX

External links

• General
  • Ian Logan's Mitochondrial DNA Site
  • Mannis van Oven's Phylotree
  • China DNA interest group on Facebook
  • The India DNA geographical project at Family Tree DNA
  • The China DNA geographical project at Family Tree DNA
• Haplogroup M
  • Spread of Haplogroup M, from National Geographic
  • Tree of M haplogroup as for 2006
  • Haplogroup M (mtDNA) interest group on Facebook
  • Another tree emphasizing the Andamanese and Nicobarese populations in comparison with other peoples with high M presence
  • K.Tharanghaj et al. In situ origin of deep rooting lineages of mitochondrial Macrohaplogroup M in India (PDF document)