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Haplogroup M30 (mtDNA)

Human mitochondrial DNA haplogroup


Human mitochondrial DNA haplogroup

FieldValue
nameM30
origin-date14,600 to 30,200 YBP
origin-placeSouth Asia
ancestorM4'45
descendantsM30a, M30b, M30c, M30d, M30e
mutations195A, 15431A, 12007A

| origin-date = 14,600 to 30,200 YBP | origin-place = South Asia 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-AsianYonsei University, Korea. The mtDNA Haplogroup Specific Control Region Mutation Motifs http://mtmanager.yonsei.ac.kr/help/MutationMotifs.pdf or an India-specific maternal lineage of the macrohaplogroup M identified by the mutations T195A, G15431A and G12007A.

Haplogroup M30 used to be a part of M4 haplogroup distinguished by G15431A. 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). 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.

Haplogroup M30 was identified in 2005 based on complete mitochondrial genome sequences of 24 Indian samples. 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.

In 2006, the definition of M30 was narrowed down by identifying it with the mutations T195A, 15431A and G12007A. 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.

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.

The age of M30 lineage was estimated at 33,042 ± 7,840 Years Before Present. However, Thangarajah, et al. (2006) dated it to 15,400 ± 6300 YBP. 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. The ages of M30b and M30d were computed to be 4177 ± 2800 years and 12,800 ± 5700 ybp respectively. 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. A number of carriers have been found in Pakistan, Afghanistan, Nepal, and Bangladesh as well.

Haplogroupscope="col"GenBank IDscope="col"Country/Regionscope="col"Populationscope="col"Source
M30
M30
M30
M30
M30
M30
M30
M30
M30
M30
M30
M30
M30
M30
M30
M30
M30
M30
M30
M30
M30
M30
M30
M30
M30
M30
M30
M30
M30
M30
M30
M30
M30
M30
M30
M30
M30-C16234T
M30-C16234T
M30-C16234T
M30-C16234T
M30-C16234T
M30-C16234T
M30-C16234T
M30-C16234T
M30-C16234T
M30-C16234T
M30-C16234T
M30-C16234T
M30-C16234T
M30-C16234T
M30-C16234T
M30-C16234T
M30-C16234T
M30-C16234T
M30a
M30a
M30a
M30a
M30a
M30a
M30a
M30a
M30a1
M30a1
M30a2
M30a2
M30b
M30b
M30b
M30b
M30b
M30b
M30b
M30b
M30b
M30b
M30c
M30c
M30c
M30c
M30c
M30c
M30c
M30c
M30c1
M30c1
M30c1
M30c1
M30c1
M30c1
M30c1
M30c1
M30c1
M30c1
M30c1
M30c1
M30c1a
M30c1a
M30c1a
M30c1a1
M30d
M30d
M30d1
M30d1
M30d1
M30d1
M30d1
M30d1
M30d2
M30d2
M30d2
M30d2
M30e
M30e
M30e
M30e
M30e
M30e
M30f
M30f
M30f
M30f
M30f
M30f
M30g
M30g
M30g
M30g
M30g

East-Central Asia and East Asia

M30 has also been detected in the maternal lineages of China.

Haplogroupscope="col"GenBank IDscope="col"Country/Regionscope="col"Populationscope="col"Source
M30
M30
M30
M30
M30
M30c1

Southeast Asia

Haplogroupscope="col"GenBank IDscope="col"Country/Regionscope="col"Populationscope="col"Source
M30
M30c1

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. 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).

Haplogroupscope="col"GenBank IDscope="col"Country/Regionscope="col"Populationscope="col"Source
M30
M30-C16234T
M30-C16234T
M30-C16234T
M30b
M30c1
M30c1
M30d1

Europe

M30 is uncommon among the native ethnic groups of Europe.

Haplogroupscope="col"GenBank IDscope="col"Country/Regionscope="col"Populationscope="col"Source
M30
M30-C16234T

Pre-Modern M30 Samples

HaplogroupIDAlt IDLocationPeriodAuthor(s)
M30I3406R43Roopkund Lake, India885-980 CElast1=Harneyfirst1=Élast2=Nayakfirst2=A.display-authors = etaldate=2019-08-20title=Ancient DNA from the skeletons of Roopkund Lake reveals Mediterranean migrants in Indiajournal=Nature Communicationsvolume=10issue=1pages=3670 on Table 1doi=10.1038/s41467-019-11357-9pmid=31431628pmc=6702210bibcode=2019NatCo..10.3670H }}
M30I6549Swat District, Pakistan167-46 BCE
M30I6552Swat District, Pakistan200-0 BCE
M30I6894Swat District, Pakistan400-200 BCE
M30-C16234TI6945R64Roopkund Lake, India687-870 CEHarney, É. et al.
M30-C16234TMed1Kashmir valley, India1444-1617 CElast1=Dwivedifirst1=Aparnalast2=Kumarfirst2=Lomousdisplay-authors = etaldate=2025-10-09title=Ancient mitogenomes from Neolithic, megalithic and medieval burials suggest complex genetic history of Kashmir valley, Indiajournal=Scientific Reportsvolume=15pages=35247 on Tables S3, S6doi=10.1038/s41598-025-00568-4pmc=12511581 }}
M30cI3346R15Roopkund Lake, India717-889 CEHarney, É. et al.
M30c1I12149Swat District, Pakistan1000-800 BCE
M30c1I12470Swat District, Pakistan1000-800 BCE
M30d1I7723Swat District, Pakistan400-200 BCE
M30d1I12461Swat District, Pakistan1000-800 BCE
M30gI12134Swat District, Pakistan1000-800 BCE
HaplogroupIDAlt IDLocationPeriodAuthor(s)
M30aI2123Gonur Depe, Turkmenistan2452-2140 BCE
M30bI11466Shahr-i Sokhta, Iran2500-2000 BCE

Subclades

Tree

This phylogenetic tree of haplogroup subclades is based on the Van Oven 2008 tree 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

References

References

  1. (2009). "Correcting for Purifying Selection: An Improved Human Mitochondrial Molecular Clock". The American Journal of Human Genetics.
  2. Jaisamut, Kitipong. (2023-11-21). "Unraveling the mitochondrial phylogenetic landscape of Thailand reveals complex admixture and demographic dynamics". Scientific Reports.
  3. (2006). "In situ origin of deep rooting lineages of mitochondrial Macrohaplogroup 'M' in India". BMC Genomics.
  4. (2006). "Phylogeography of mitochondrial DNA and Y-Chromosome haplogroups reveal asymmetric gene flow in populations of Eastern India". American Journal of Physical Anthropology.
  5. Ian Logan, 2008 [http://www.ianlogan.co.uk/discussion/hap_M4.htm] {{full. (November 2012)
  6. (2005). "The Dazzling Array of Basal Branches in the mtDNA Macrohaplogroup M from India as Inferred from Complete Genomes". Molecular Biology and Evolution.
  7. (2005). "Phylogeny and antiquity of M macrohaplogroup inferred from complete mt DNA sequence of Indian specific lineages". BMC Evolutionary Biology.
  8. (2009). "Phylogeographic distribution of mitochondrial DNA macrohaplogroup M in India". Journal of Genetics.
  9. (2009). "Updating Phylogeny of Mitochondrial DNA Macrohaplogroup M in India: Dispersal of Modern Human in South Asian Corridor". PLOS ONE.
  10. "Jayasekara-2024".
  11. (December 2017). "A genetic chronology for the Indian Subcontinent points to heavily sex-biased dispersal". BMC Evolutionary Biology.
  12. (2009-07-22). "Reconstructing Indian-Australian phylogenetic link". BMC Evolutionary Biology.
  13. (2021). "Complete mitogenomes document substantial genetic contribution from the Eurasian Steppe into northern Pakistani Indo-Iranian speakers". European Journal of Human Genetics.
  14. (24 September 2014). "Human paternal and maternal demographic histories: insights from high-resolution Y chromosome and mtDNA sequences". Investigative Genetics.
  15. (2008-04-30). "Counting the Founders: The Matrilineal Genetic Ancestry of the Jewish Diaspora". PLOS ONE.
  16. (August 2016). "MtDNA analysis reveals enriched pathogenic mutations in Tibetan highlanders". Scientific Reports.
  17. (January 2020). "Whole mitochondrial genome analysis of highland Tibetan ethnicity using massively parallel sequencing". Forensic Science International: Genetics.
  18. (2007). "Mitochondrial lineage M1 traces an early human backflow to Africa". BMC Genomics.
  19. (2008). "Regional differences in the distribution of the sub-Saharan, West Eurasian, and South Asian mtDNA lineages in Yemen". American Journal of Physical Anthropology.
  20. (2019-08-20). "Ancient DNA from the skeletons of Roopkund Lake reveals Mediterranean migrants in India". Nature Communications.
  21. (2025-10-09). "Ancient mitogenomes from Neolithic, megalithic and medieval burials suggest complex genetic history of Kashmir valley, India". Scientific Reports.
  22. (2009). "Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation". Human Mutation.
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