Haplogroup M30 (mtDNA) explained

M30
Origin-Date:14,600 to 30,200 YBP[1]
Origin-Place:South Asia
Ancestor:M4'45
Descendants:M30a, M30b, M30c, M30d, M30e
Mutations:195A, 15431A, 12007A

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

Origin

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); 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

South Asia

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.[10] A number of carriers have been found in Pakistan, Afghanistan, Nepal, and Bangladesh as well.

HaplogroupGenBank IDCountry/RegionPopulationSource
M30DQ246813IndiaRajkumar 2005
M30DQ246815IndiaRajkumar 2005
M30DQ246816IndiaRajkumar 2005
M30DQ246827IndiaRajkumar 2005
M30FJ383657Karnataka,[11] IndiaKumar 2009[12]
M30FJ383658Gujarat, IndiaKumar 2009
M30FJ383659Gujarat, IndiaKumar 2009
M30FJ383667Maharashtra, IndiaKumar 2009
M30FJ383673Madhya Pradesh, IndiaKumar 2009
M30FJ383675Madhya Pradesh, IndiaKumar 2009
M30HM156694IndiaGovindaraj 2011
M30JX462681IndiaKhan 2013
M30JX462684IndiaKhan 2013
M30KX467298Jammu and Kashmir, IndiaSharma 2017
M30KX467299Jammu and Kashmir, IndiaSharma 2017
M30KX467300Jammu and Kashmir, IndiaSharma 2017
M30MH830089Chetlat Island, IndiaGajbhiye 2019
M30MH830090Chetlat Island, IndiaGajbhiye 2019
M30MH830091Chetlat Island, IndiaGajbhiye 2019
M30MH830092Chetlat Island, IndiaGajbhiye 2019
M30MH830093Chetlat Island, IndiaGajbhiye 2019
M30MH830094Chetlat Island, IndiaGajbhiye 2019
M30MH830095Chetlat Island, IndiaGajbhiye 2019
M30MH830096Chetlat Island, IndiaGajbhiye 2019
M30MH830097Chetlat Island, IndiaGajbhiye 2019
M30MN595703PakistanRahman 2021[13]
M30MN595772PakistanRahman 2021
M30MN595825PakistanRahman 2021
M30MN595857PakistanRahman 2021
M30OM489686Sri LankaJayasekera 2022
M30OM489688Sri LankaJayasekera 2022
M30OM489690Sri LankaJayasekera 2022
M30OM489701Sri LankaJayasekera 2022
M30OM489714Sri LankaJayasekera 2022
M30-C16234TAY922258IndiaSun 2006
M30-C16234TEU597504PakistanSindhisHartmann 2008
M30-C16234TJX462683IndiaKhan 2013
M30-C16234TKF450921PakistanSindhisLippold 2014[14]
M30-C16234TKX467294Jammu and Kashmir, IndiaSharma 2017
M30-C16234TKX467295Jammu and Kashmir, IndiaSharma 2017
M30-C16234TKX467297Jammu and Kashmir, IndiaSharma 2017
M30-C16234TMT506289IndiaZoroastrian ParsisPatell 2020
M30-C16234TMT506290IndiaZoroastrian ParsisPatell 2020
M30-C16234TMT506291IndiaZoroastrian ParsisPatell 2020
M30-C16234TMT506292IndiaZoroastrian ParsisPatell 2020
M30-C16234TMT506293IndiaZoroastrian ParsisPatell 2020
M30-C16234TMT506294IndiaZoroastrian ParsisPatell 2020
M30-C16234TMT506295IndiaZoroastrian ParsisPatell 2020
M30-C16234TMT506296IndiaZoroastrian ParsisPatell 2020
M30-C16234TMT506297IndiaZoroastrian ParsisPatell 2020
M30-C16234TMT506298IndiaZoroastrian ParsisPatell 2020
M30aFJ383661Rajasthan, IndiaKumar 2009
M30aFJ383662Rajasthan, IndiaKumar 2009
M30aFJ383663Rajasthan, IndiaKumar 2009
M30aFJ383666Rajasthan, IndiaKumar 2009
M30aJQ446403IndiaKhan 2013
M30aKY933649IndiaHusain 2017
M30aOP004792IndiaGujaratisAlqaisi 2023
M30aOP004800IndiaGujaratisAlqaisi 2023
M30a1AY289072southern IndiaKoragasIngman-Gyll 2006
M30a1AY922254IndiaSun 2006
M30a2FJ383660Rajasthan, IndiaKumar 2009
M30a2FJ383665Rajasthan, IndiaKumar 2009
M30bAY289071southern IndiaKannada peopleIngman-Gyll 2006
M30bAY922277IndiaSun 2006
M30bFJ383664Rajasthan, IndiaKumar 2009
M30bKM043056Punjab, IndiaJat SikhFamilyTreeDNA
M30bKX467301Jammu and Kashmir, IndiaSharma 2017
M30bMN595716PakistanRahman 2021
M30bMN595856PakistanRahman 2021
M30bMT506269IndiaZoroastrian ParsisPatell 2020
M30bOP004790IndiaGujaratisAlqaisi 2023
M30c1AF382013IndiaMaca-Meyer 2006
M30c1AY922268IndiaSun 2006
M30c1KR074253IndiaMarrero 2016
M30c1MN595711PakistanRahman 2021
M30c1MN595814PakistanRahman 2021
M30c1OM489683Sri LankaJayasekera 2022
M30c1OM489726Sri LankaJayasekera 2022
M30c1OM489728Sri LankaJayasekera 2022
M30c1OP004759IndiaGujaratisAlqaisi 2023
M30c1aAY922257IndiaSun 2006
M30c1aHM036539northern IndiaLadakhisSharma 2011
M30c1aHM036550northern IndiaLadakhisSharma 2011
M30c1a1EF556149IndiaBene Israel JewBehar 2008[15]
M30dMN595893PakistanRahman 2021
M30d1AY922256IndiaSun 2006
M30d1FJ383654NepalKumar 2009
M30d1FJ383655NepalKumar 2009
M30d1FJ383656NepalKumar 2009
M30d1KF450900PakistanMakrani peopleLippold 2014
M30d1MT506288IndiaZoroastrian ParsisPatell 2020
M30d2AY922255IndiaSun 2006
M30d2FJ383668Maharashtra, IndiaKumar 2009
M30d2FJ383669Maharashtra, IndiaKumar 2009
M30d2HM156674IndiaGovindaraj 2011
M30eFJ383670Maharashtra, IndiaKumar 2009
M30eFJ383672Maharashtra, IndiaKumar 2009
M30eFJ383676Maharashtra, IndiaKumar 2009
M30eFJ383677Maharashtra, IndiaKumar 2009
M30eFJ383678Gujarat, IndiaKumar 2009
M30eFJ383679Gujarat, IndiaKumar 2009
M30fDQ246818IndiaRajkumar 2005
M30fFJ383674Madhya Pradesh, IndiaKumar 2009
M30fGU480014IndiaSharma 2011
M30fKF450935PakistanSindhisLippold 2014
M30fOP004736IndiaGujaratisAlqaisi 2023
M30fOP004776IndiaGujaratisAlqaisi 2023
M30gFJ383671Madhya Pradesh, IndiaKumar 2009
M30gJF742213Kathmandu, NepalWang 2012
M30gJX462693IndiaKhan 2013
M30gMN595844PakistanRahman 2021

East-Central Asia and East Asia

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.[16]

HaplogroupGenBank IDCountry/RegionPopulationSource
M30FJ748727Tibet, ChinaTibetan[17] Ji 2010
M30MF522852TajikistanKyrgyzPeng 2017
M30MF522877TajikistanKyrgyzPeng 2017
M30MF523093ChinaSarikoli TajiksPeng 2017
M30MF523219TajikistanWakhiPeng 2017
M30c1MF522990Dushanbe,[18] TajikistanTajiksPeng 2017

Southeast Asia

HaplogroupGenBank IDCountry/RegionPopulationSource
M30MG272917ThailandKutanan 2018
M30c1KP346045MyanmarBamar peopleLi 2015

West Asia and Northern Africa

M30 has been detected in Palestinian Arabs and is thought to be due to a recent gene flow from India into that region.[19] 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).[20]

HaplogroupGenBank IDCountry/RegionPopulationSource
M30EU370397Saudi ArabiaAbu-Amero 2008
M30-C16234TKF451210IsraelPalestinian ArabsLippold 2014
M30-C16234TKF451249HaMerkaz, IsraelPalestinian ArabsLippold 2014
M30-C16234TKJ446739Palestinian ArabsZheng 2014
M30bKR074248Saudi ArabiaMarrero 2016
M30c1MF437059United Arab EmiratesAl-Jasmi 2020
M30c1MF437077United Arab EmiratesAl-Jasmi 2020
M30d1MF437278United Arab EmiratesAl-Jasmi 2020

Europe

M30 is uncommon among the native ethnic groups of Europe.

HaplogroupGenBank IDCountry/RegionPopulationSource
M30KF161562DenmarkLi 2013
M30-C16234TKP076664FranceFrenchFamilyTreeDNA

Pre-Modern M30 Samples

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.
M30c I3346 R15 Roopkund Lake, India 717-889 CE Harney, É. et al.
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

Tree

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

See also

External links

Notes and References

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  2. Yonsei University, Korea. The mtDNA Haplogroup Specific Control Region Mutation Motifs http://mtmanager.yonsei.ac.kr/help/MutationMotifs.pdf
  3. 10.1186/1471-2164-7-151 . 2006 . Thangaraj . Kumarasamy . Chaubey . Gyaneshwer . Singh . Vijay . Vanniarajan . Ayyasamy . Thanseem . Ismail . Reddy . Alla G . Singh . Lalji . BMC Genomics . 7 . 151 . 16776823 . In situ origin of deep rooting lineages of mitochondrial Macrohaplogroup 'M' in India . 1534032 . free .
  4. 84–97 . 10.1002/ajpa.20399 . Phylogeography of mitochondrial DNA and Y-Chromosome haplogroups reveal asymmetric gene flow in populations of Eastern India . 2006 . Sahoo . Sanghamitra . Kashyap . V.K. . American Journal of Physical Anthropology . 131 . 16485297 . 1.
  5. Ian Logan, 2008 http://www.ianlogan.co.uk/discussion/hap_M4.htm
  6. 683–90 . 10.1093/molbev/msj078 . The Dazzling Array of Basal Branches in the mtDNA Macrohaplogroup M from India as Inferred from Complete Genomes . 2005 . Sun . Chang . Molecular Biology and Evolution . 23 . 3 . 16361303 . Kong . Qing-Peng . Palanichamy . Malliya gounder . Agrawal . Suraksha . Bandelt . Hans-Jürgen . Yao . Yong-Gang . Khan . Faisal . Zhu . Chun-Ling . Chaudhuri . Tapas Kumar. Zhang . Y. P. . 8 . free .
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  8. 19417557 . 2009 . Maji . Suvendu . Krithika . S . Vasulu . TS . Phylogeographic distribution of mitochondrial DNA macrohaplogroup M in India . 88 . 1 . 127–39 . Journal of Genetics . 10.1007/s12041-009-0020-3. 28080968 .
  9. 10.1371/journal.pone.0007447 . Updating Phylogeny of Mitochondrial DNA Macrohaplogroup M in India: Dispersal of Modern Human in South Asian Corridor . 2009 . Quintana-Murci . Lluis . Chandrasekar . Adimoolam . Kumar . Satish . Sreenath . Jwalapuram . Sarkar . Bishwa Nath . Urade . Bhaskar Pralhad . Mallick . Sujit . Bandopadhyay . Syam Sundar . Barua . Pinuma . Barik . Subihra Sankar . Basu . D . Kiran . U . Gangopadhyay . P . Sahani . R . Prasad . B. V. . Gangopadhyay . S . Lakshmi . G. R. . Ravuri . R. R. . Padmaja . K . Venugopal . P. N. . Sharma . M. B. . Rao . V. R. . PLOS ONE . 4 . 10 . e7447 . 19823670 . 2757894. 2009PLoSO...4.7447C . 8 . free .
  10. Web site: Jayasekara-2024 .
  11. A genetic chronology for the Indian Subcontinent points to heavily sex-biased dispersal . Silva. Marina. Oliveira. Marisa. etal. December 2017. BMC Evolutionary Biology. 17 . 1 . Additional file 1. 10.1186/s12862-017-0936-9 . free . 28335724 . 5364613 . 2017BMCEE..17...88S .
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  14. Lippold . Sebastian . Xu . Hongyang . Ko . Albert . Li . Mingkun . Renaud . Gabriel . Butthof . Anne . Schröder . Roland . Stoneking . Mark . Human paternal and maternal demographic histories: insights from high-resolution Y chromosome and mtDNA sequences . Investigative Genetics . 24 September 2014 . 5 . 1 . 13 . 10.1186/2041-2223-5-13 . 25254093 . 4174254 . 16464327 . free .
  15. 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 . en . 3 . 4 . e2062 on Table 2 . 10.1371/journal.pone.0002062 . free . 18446216. 2323359 . 2008PLoSO...3.2062B .
  16. 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
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  20. 128–37 . 10.1002/ajpa.20784 . Regional differences in the distribution of the sub-Saharan, West Eurasian, and South Asian mtDNA lineages in Yemen . 2008 . Černý . Viktor . Mulligan . Connie J. . Rídl . Jakub . Žaloudková . Martina . Edens . Christopher M. . Hájek . Martin . Pereira . Luísa . American Journal of Physical Anthropology . 136 . 2 . 18257024.
  21. Harney . É . Nayak . A. . etal . 2019-08-20 . Ancient DNA from the skeletons of Roopkund Lake reveals Mediterranean migrants in India . Nature Communications . 10 . 1 . 3670 on Table 1 . 10.1038/s41467-019-11357-9 . 31431628 . 6702210 . 2019NatCo..10.3670H .
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