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Haplogroup M30 (mtDNA)

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Haplogroup M30
Possible time of origin14,600 to 30,200 YBP[1]
Possible place of originSouth Asia
AncestorM4'45
DescendantsM30a, M30b, M30c, M30d, M30e
Defining mutations195A, 15431A, 12007A

In human mitochondrial genetics, Haplogroup M30 is a human mitochondrial DNA (mtDNA) haplogroup.

Origin

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Haplogroup M30 (coding region: 195A-514dCA-12007-15431) is a South-Asian[2] or an India-specific maternal lineage[3][4] of the macrohaplogroup M identified by the mutations T195A, G15431A and G12007A.[3]

Haplogroup M30 used to be a part of M4 haplogroup distinguished by G15431A.[5] Haplogroup M30 shares a common coding region mutation (12007) together with the M4, M18, M37 and M38 haplogroups from the root of haplogroup M (superhaplogroup M4'30).[3][6] M4′30 super-clade is the only clade that shares an intermediate lineage between 2 haplogroups, while the rest of all M lineages have originated independently from the root of macrohaplogroup M; thus supporting the idea of rapid dispersal of modern humans along the Asian coast after they left Africa, followed by a long period of isolation.[3]

Haplogroup M30 was identified in 2005 based on complete mitochondrial genome sequences of 24 Indian samples.[7] It was designated as a new lineage with sub-haplogroups M30a, M30b, M30c, M30d based on observed mutations sites. The mutations characterizing this lineage were observed in five samples from eastern part of India, that is Bihar (Kurmi, Yadav and Baniya), West Bengal (Mahishya), Orissa (Saora) and two samples from south India (Christians of Karnataka and Lambadi of Andhra Pradesh). Previously identified Haplogroup M18 was collapsed to reside in M30 as a sub-lineage.[6][7]

In 2006, the definition of M30 was narrowed down by identifying it with the mutations T195A, 15431A and G12007A.[6][8] The study detailed an individual from the Reddy population of Andhra Pradesh categorized into M30a; a sample of Thogataveera from Andhra Pradesh classified into M30b; the presence of M30c in Thogataveera of Andhra Pradesh and Chaturvedi of Uttar Pradesh, and finally, the identification of M30d in Bhargava of Uttar Pradesh and Thogataveera of Andhra Pradesh.[8] In 2009, Subhaplogroup M30e was identified among Kathodi, Kathakur and Mathakur in Western region of India.[9]

In 2006, Sahoo and Kashyap reported haplogroup M30 in Oriya Brahmins, Karanams, Khandayats, Gope (aka Gour or Yadavs);[10] and in tribes of Juang and Saora of Orissa. The Saora exhibited a high frequency of M30 (of about 32% of the sample size) followed by Karanams (24%), Oriya Brahmins (20%) and Juang (20%). Khandayat and Gope showed a lower frequency (about 6%) of M30. M30 was also detected at low frequencies (1.5%–2.5%) in Pardhan, Naikpod Gond and Andh tribal populations of Andhra Pradesh.[8]

The age of M30 lineage was estimated at 33,042 ± 7,840 Years Before Present.[7] However, Thangarajah, et al. (2006) dated it to 15,400 ± 6300 YBP.[8] Rajkumar, et al. put forward the estimated coalescence time of haplogroup M30 to be 15,400 ± 6300 ybp, and that of its sub-haplogroups M30a and M30c to be 5100 ± 3600 ybp.[7] The ages of M30b and M30d were computed to be 4177 ± 2800 years and 12,800 ± 5700 ybp respectively.[8] This period corresponds with the late-Mesolithic in India and the Levant.

Distribution

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South Asia

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M30 is found in a wide variety of ethnic, religious, and linguistic groups in both North and South India. Some of these groups include the Gujarati people, Kannada people, Parsis, and Bene Israel. Jayasekara et al. found many carriers of M30 among the people of Sri Lanka.[11] A number of carriers have been found in Pakistan, Afghanistan, Nepal, and Bangladesh as well.

Haplogroup GenBank ID Country/Region Population Source
M30 DQ246813 India — Rajkumar 2005[7]
M30 DQ246815 India — Rajkumar 2005[7]
M30 DQ246816 India — Rajkumar 2005[7]
M30 DQ246827 India — Rajkumar 2005[7]
M30 FJ383657 Karnataka,[12] India — Kumar 2009[13]
M30 FJ383658 Gujarat,[12] India — Kumar 2009[13]
M30 FJ383659 Gujarat,[12] India — Kumar 2009[13]
M30 FJ383667 Maharashtra,[12] India — Kumar 2009[13]
M30 FJ383673 Madhya Pradesh,[12] India — Kumar 2009[13]
M30 FJ383675 Madhya Pradesh,[12] India — Kumar 2009[13]
M30 HM156694 India — Govindaraj 2011
M30 JX462681 India — Khan 2013
M30 JX462684 India — Khan 2013
M30 KX467298 Jammu and Kashmir, India — Sharma 2017
M30 KX467299 Jammu and Kashmir, India — Sharma 2017
M30 KX467300 Jammu and Kashmir, India — Sharma 2017
M30 MH830089 Chetlat Island, India — Gajbhiye 2019
M30 MH830090 Chetlat Island, India — Gajbhiye 2019
M30 MH830091 Chetlat Island, India — Gajbhiye 2019
M30 MH830092 Chetlat Island, India — Gajbhiye 2019
M30 MH830093 Chetlat Island, India — Gajbhiye 2019
M30 MH830094 Chetlat Island, India — Gajbhiye 2019
M30 MH830095 Chetlat Island, India — Gajbhiye 2019
M30 MH830096 Chetlat Island, India — Gajbhiye 2019
M30 MH830097 Chetlat Island, India — Gajbhiye 2019
M30 MN595703 Pakistan — Rahman 2021[14]
M30 MN595772 Pakistan — Rahman 2021[14]
M30 MN595825 Pakistan — Rahman 2021[14]
M30 MN595857 Pakistan — Rahman 2021[14]
M30 OM489686 Sri Lanka — Jayasekera 2022
M30 OM489688 Sri Lanka — Jayasekera 2022
M30 OM489690 Sri Lanka — Jayasekera 2022
M30 OM489701 Sri Lanka — Jayasekera 2022
M30 OM489714 Sri Lanka — Jayasekera 2022
M30-C16234T AY922258 India — Sun 2006[6]
M30-C16234T EU597504 Pakistan Sindhis Hartmann 2008
M30-C16234T JX462683 India — Khan 2013
M30-C16234T KF450921 Pakistan Sindhis Lippold 2014[15]
M30-C16234T KX467294 Jammu and Kashmir, India — Sharma 2017
M30-C16234T KX467295 Jammu and Kashmir, India — Sharma 2017
M30-C16234T KX467297 Jammu and Kashmir, India — Sharma 2017
M30-C16234T MT506289 India Zoroastrian Parsis Patell 2020
M30-C16234T MT506290 India Zoroastrian Parsis Patell 2020
M30-C16234T MT506291 India Zoroastrian Parsis Patell 2020
M30-C16234T MT506292 India Zoroastrian Parsis Patell 2020
M30-C16234T MT506293 India Zoroastrian Parsis Patell 2020
M30-C16234T MT506294 India Zoroastrian Parsis Patell 2020
M30-C16234T MT506295 India Zoroastrian Parsis Patell 2020
M30-C16234T MT506296 India Zoroastrian Parsis Patell 2020
M30-C16234T MT506297 India Zoroastrian Parsis Patell 2020
M30-C16234T MT506298 India Zoroastrian Parsis Patell 2020
M30a FJ383661 Rajasthan,[12] India — Kumar 2009[13]
M30a FJ383662 Rajasthan,[12] India — Kumar 2009[13]
M30a FJ383663 Rajasthan,[12] India — Kumar 2009[13]
M30a FJ383666 Rajasthan,[12] India — Kumar 2009[13]
M30a JQ446403 India — Khan 2013
M30a KY933649 India — Husain 2017
M30a OP004792 India Gujaratis Alqaisi 2023
M30a OP004800 India Gujaratis Alqaisi 2023
M30a1 AY289072 southern India Koragas Ingman-Gyll 2006
M30a1 AY922254 India — Sun 2006[6]
M30a2 FJ383660 Rajasthan,[12] India — Kumar 2009[13]
M30a2 FJ383665 Rajasthan,[12] India — Kumar 2009[13]
M30b AY289071 southern India Kannada people Ingman-Gyll 2006
M30b AY922277 India — Sun 2006[6]
M30b FJ383664 Rajasthan,[12] India — Kumar 2009[13]
M30b KM043056 Punjab, India Jat Sikh FamilyTreeDNA
M30b KX467301 Jammu and Kashmir, India — Sharma 2017
M30b MN595716 Pakistan — Rahman 2021[14]
M30b MN595856 Pakistan — Rahman 2021[14]
M30b MT506269 India Zoroastrian Parsis Patell 2020
M30b OP004790 India Gujaratis Alqaisi 2023
M30c1 AF382013 India — Maca-Meyer 2006
M30c1 AY922268 India — Sun 2006[6]
M30c1 KR074253 India — Marrero 2016
M30c1 MN595711 Pakistan — Rahman 2021[14]
M30c1 MN595814 Pakistan — Rahman 2021[14]
M30c1 OM489683 Sri Lanka — Jayasekera 2022
M30c1 OM489726 Sri Lanka — Jayasekera 2022
M30c1 OM489728 Sri Lanka — Jayasekera 2022
M30c1 OP004759 India Gujaratis Alqaisi 2023
M30c1a AY922257 India — Sun 2006[6]
M30c1a HM036539 northern India Ladakhis Sharma 2011
M30c1a HM036550 northern India Ladakhis Sharma 2011
M30c1a1 EF556149 India Bene Israel Jew Behar 2008[16]
M30d MN595893 Pakistan — Rahman 2021[14]
M30d1 AY922256 India — Sun 2006[6]
M30d1 FJ383654 Nepal[12] — Kumar 2009[13]
M30d1 FJ383655 Nepal[12] — Kumar 2009[13]
M30d1 FJ383656 Nepal[12] — Kumar 2009[13]
M30d1 KF450900 Pakistan Makrani people Lippold 2014[15]
M30d1 MT506288 India Zoroastrian Parsis Patell 2020
M30d2 AY922255 India — Sun 2006[6]
M30d2 FJ383668 Maharashtra,[12] India — Kumar 2009[13]
M30d2 FJ383669 Maharashtra,[12] India — Kumar 2009[13]
M30d2 HM156674 India — Govindaraj 2011
M30e FJ383670 Maharashtra,[12] India — Kumar 2009[13]
M30e FJ383672 Maharashtra,[12] India — Kumar 2009[13]
M30e FJ383676 Maharashtra,[12] India — Kumar 2009[13]
M30e FJ383677 Maharashtra,[12] India — Kumar 2009[13]
M30e FJ383678 Gujarat,[12] India — Kumar 2009[13]
M30e FJ383679 Gujarat,[12] India — Kumar 2009[13]
M30f DQ246818 India — Rajkumar 2005[7]
M30f FJ383674 Madhya Pradesh,[12] India — Kumar 2009[13]
M30f GU480014 India — Sharma 2011
M30f KF450935 Pakistan Sindhis Lippold 2014[15]
M30f OP004736 India Gujaratis Alqaisi 2023
M30f OP004776 India Gujaratis Alqaisi 2023
M30g FJ383671 Madhya Pradesh,[12] India — Kumar 2009[13]
M30g JF742213 Kathmandu, Nepal — Wang 2012
M30g JX462693 India — Khan 2013
M30g MN595844 Pakistan — Rahman 2021[14]

East-Central Asia and East Asia

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M30 has also been detected in the maternal lineages of China.[6] Peng et al. (2017) have found one individual who belongs to mtDNA haplogroup M30c1 in a sample of 28 Tajiks from Dushanbe, Tajikistan, two individuals who belong to mtDNA haplogroup M30h (bearing mutations at the 16093, 4394, 4491, and 12451 loci) in a sample of 68 Kyrgyz from Taxkorgan, Xinjiang, China, one individual who belongs to mtDNA haplogroup M30* (bearing additional mutations at the 11437 and 16274 loci) in a sample of 66 Wakhis from Taxkorgan, and one individual who belongs to mtDNA haplogroup M30 (bearing additional mutations at the 16234 and 16153 loci, possibly marking a pre-M30e branch) in a sample of 86 Sarikolis from Taxkorgan.[17]

Haplogroup GenBank ID Country/Region Population Source
M30 FJ748727 Tibet, China Tibetan[18] Ji 2010
M30 MF522852 Tajikistan Kyrgyz Peng 2017[17]
M30 MF522877 Tajikistan Kyrgyz Peng 2017[17]
M30 MF523093 China Sarikoli Tajiks Peng 2017[17]
M30 MF523219 Tajikistan Wakhi Peng 2017[17]
M30c1 MF522990 Dushanbe,[19] Tajikistan Tajiks Peng 2017[17]

Southeast Asia

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Haplogroup GenBank ID Country/Region Population Source
M30 MG272917 Thailand — Kutanan 2018
M30c1 KP346045 Myanmar Bamar people Li 2015

West Asia and Northern Africa

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M30 has been detected in Palestinian Arabs and is thought to be due to a recent gene flow from India into that region.[20] It is also found in Eastern Yemeni populations, Saudi Arabia, the United Arab Emirates, Kuwait, Upper Egypt, and Kesra (Tunisia). M30 individuals were found to constitute 7.5% of the total population of Hadramawt (Yemen).[10]

Haplogroup GenBank ID Country/Region Population Source
M30 EU370397 Saudi Arabia — Abu-Amero 2008
M30-C16234T KF451210 Israel Palestinian Arabs Lippold 2014[15]
M30-C16234T KF451249 HaMerkaz, Israel Palestinian Arabs Lippold 2014[15]
M30-C16234T KJ446739 — Palestinian Arabs Zheng 2014
M30b KR074248 Saudi Arabia — Marrero 2016
M30c1 MF437059 United Arab Emirates — Al-Jasmi 2020
M30c1 MF437077 United Arab Emirates — Al-Jasmi 2020
M30d1 MF437278 United Arab Emirates — Al-Jasmi 2020

Europe

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M30 is uncommon among the native ethnic groups of Europe.

Haplogroup GenBank ID Country/Region Population Source
M30 KF161562 Denmark — Li 2013
M30-C16234T KP076664 France French FamilyTreeDNA

Pre-Modern M30 Samples

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In South Asia
Haplogroup ID Alt ID Location Period Author(s)
M30 I3406 R43 Roopkund Lake, India 885-980 CE Harney, É. et al.[21]
M30 I6549 — Swat District, Pakistan 167-46 BCE —
M30 I6552 — Swat District, Pakistan 200-0 BCE —
M30 I6894 — Swat District, Pakistan 400-200 BCE —
M30-C16234T I6945 R64 Roopkund Lake, India 687-870 CE Harney, É. et al.[21]
M30c I3346 R15 Roopkund Lake, India 717-889 CE Harney, É. et al.[21]
M30c1 I12149 — Swat District, Pakistan 1000-800 BCE —
M30c1 I12470 — Swat District, Pakistan 1000-800 BCE —
M30d1 I7723 — Swat District, Pakistan 400-200 BCE —
M30d1 I12461 — Swat District, Pakistan 1000-800 BCE —
M30g I12134 — Swat District, Pakistan 1000-800 BCE —
Outside of South Asia
Haplogroup ID Alt ID Location Period Author(s)
M30a I2123 — Gonur Depe, Turkmenistan 2452-2140 BCE —
M30b I11466 — Shahr-i Sokhta, Iran 2500-2000 BCE —

Subclades

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Tree

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This phylogenetic tree of haplogroup subclades is based on the Van Oven 2008 tree[22] and subsequent published research.

  • M30 T195A G15431A
    • M30a G513A
      • M30a1 G6366A
      • M30a2 T11935C
    • M30b T152C! G5147A
    • M30c T146C! A12234G
      • M30c1 A16166-
        • M30c1a C16069T
          • M30c1a1 G9966A
    • M30d C15259T
      • M30d1 G1598A
      • M30d2 C10160T
    • M30-C16234T
      • M30e T152C! T6620C C13303T
    • M30f A5894G T16368C
    • M30g T204C C6119T

See also

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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
HV JT K
H V J T

References

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  16. ^ Behar, Doron M.; Metspalu, Ene; Kivisild, Toomas; Rosset, Saharon; Tzur, Shay; Hadid, Yarin; Yudkovsky, Guennady; Rosengarten, Dror; Pereira, Luisa; Amorim, Antonio; Kutuev, Ildus; Gurwitz, David; Bonne-Tamir, Batsheva; Villems, Richard; Skorecki, Karl (2008-04-30). "Counting the Founders: The Matrilineal Genetic Ancestry of the Jewish Diaspora". PLOS ONE. 3 (4): e2062 on Table 2. Bibcode:2008PLoSO...3.2062B. doi:10.1371/journal.pone.0002062. PMC 2323359. PMID 18446216.
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  18. ^ Kang, Longli; Zheng, Hong-Xiang; et al. (August 2016). "MtDNA analysis reveals enriched pathogenic mutations in Tibetan highlanders". Scientific Reports. 6: Supplementary information. Bibcode:2016NatSR...631083K. doi:10.1038/srep31083. PMC 4976311. PMID 27498855.
  19. ^ Wang, Mengge; Wang, Zheng; et al. (January 2020). "Whole mitochondrial genome analysis of highland Tibetan ethnicity using massively parallel sequencing". Forensic Science International: Genetics. 44: Supplementary file mmc1.xlsx. doi:10.1016/j.fsigen.2019.102197. PMID 31756629. S2CID 208233743.
  20. ^ González, Ana M; Larruga, José M; Abu-Amero, Khaled K; Shi, Yufei; Pestano, José; Cabrera, Vicente M (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.
  21. ^ a b c Harney, É; Nayak, A.; et al. (2019-08-20). "Ancient DNA from the skeletons of Roopkund Lake reveals Mediterranean migrants in India". Nature Communications. 10 (1): 3670 on Table 1. Bibcode:2019NatCo..10.3670H. doi:10.1038/s41467-019-11357-9. PMC 6702210. PMID 31431628.
  22. ^ Van Oven, Mannis; Kayser, Manfred (2009). "Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation". Human Mutation. 30 (2): E386–94. doi:10.1002/humu.20921. PMID 18853457. S2CID 27566749.
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