Haplogroup M30 (mtDNA)

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.

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.

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]

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]

M30 is uncommon among the native ethnic groups of Europe.

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

• Genealogical DNA test
• Genetic genealogy
• Human mitochondrial genetics
• Population genetics
• Human mitochondrial DNA haplogroups

• General
  • Mannis van Oven's Phylotree
• Haplogroup M30
  • Ian Logan's Mitochondrial DNA Site: Haplogroup M30