Haplogroup M18

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Haplogroup M18
Possible time of origin17,100 ± 4,700 ybp (Metspalu), [1] 20,800 ± 8,900 ybp (Thangaraj) [2]
Possible place of originIndia / South Asia
Ancestor M4'30
Defining mutations12498 and 15942 (coding region) and 194 (control region)

In human mitochondrial genetics, haplogroup M18 is a human mitochondrial DNA (mtDNA) haplogroup. It is an India-specific lineage. [1] [2] [3]

Contents

Origin

M18 is a descendant of the macro-Haplogroup M (mtDNA) and an ancient Indian-specific variant of M. [1] [3] Haplogroup M18 shares a common coding region mutation (12007) together with the M4, M30, M37 and M38 haplogroups from the root of haplogroup M (superhaplogroup M4'30). [2] [3] [4] 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]

Awaiting further information from complete mtDNA sequences, the haplogroup M18 was first defined by Metspalu et al., in 2004 by using the transversion at np 16318. [1] This was later revised by Thangaraj et al., in 2006. [2] Currently, the haplogroup is characterized by two coding region mutations, 12498 and 15942, and an additional control region mutation 194. [2]

Distribution

A 2004 study of Metspalu et al., analyzed mtDNA variation across samples of 796 Indians, 436 Iranians and compared them across samples from Europe, China, and Thailand. The study showed prevalence of M18 at low frequencies across a wide geographical area comprising south-eastern parts of Saudi Arabia, widely across Iran, Pakistan, India, Nepal, Bangladesh and Myanmar. [1]

Metspalu's study revealed that the spatial distribution of M18 peaked across a portion of Punjab Pakistan, Punjab, India, Rajasthan and across a large portion of Andhra Pradesh. [5]

The high incidence (33%) of the M18 nodal haplotype among the Austroasiatic-speaking Lodha of West Bengal suggested a possible founder effect in this population. [1] It also explained the nearly two-fold difference between the coalescence estimates for this cluster calculated with and without the tribal data, in Metspalu's study. [1]

Since an intense genetic drift (particularly founder effects) could introduce a bias into the coalescence time calculation, therefore Metspalu et al., calculated the coalescence time of haplogroup M18 with and without the Lodha sample, and found it to be 9,400 ± 3,200 ybp and 17,100 ± 4,700 ybp respectively. [1] Thangaraj et al., estimated the coalescence age of Haplogroup M18 to be 20,800 ± 8900 ybp (Thangaraj et al., 2006). [2]

To sum up, Haplogroup M18 individuals have been found in

Additionally, Haplogroup M18a has been found in a Mesolithic hunter-gatherer near Balangoda, Sri Lanka dated cal BP 5455-5375. [6]

Distribution in India

A relatively high frequency of M18 haplogroup was observed in Pardhan of Andhra Pradesh, while it was completely absent in Naikpod Gond and Andh (Thanseem et al., 2006). [2] M18 was found in Brahmins of Uttar Pradesh (Sun et al., 2006), Desasth Brahmin of Maharashtra (Gaikwad and Kashyap, 2005), Khandayats of Orissa (Sahoo and Kashyap, 2006) and Oraon from Bihar (Thangaraj et al., 2006). [2]

Chandrasekar A and Raghavendra Rao, et al., confirmed the monophyletic origin of Haplogroup M18, and found it occurring in high frequency in Mal Paharia people (at 29% of sample size). [7]

The study by Metspalu et al., found haplogroup M18 across Andhra Pradesh and southeastern part of Tamil Nadu, but completely absent in neighboring Karnataka and Kerala. A possible explanation is the facilitation of admixture along the coastlines of the Arabian Sea and the Bay of Bengal. [1] However, as the absolute frequency of this haplogroup is rather low, it cannot be ruled out that an increase of sample size would disrupt the observed spread-pattern. [1]

Related Research Articles

Toomas Kivisild is an Estonian population geneticist. He graduated as a biologist and received his PhD in Genetics, from University of Tartu, Estonia, in 2000. Since then he has worked as a postdoctoral research fellow in the School of Medicine, at Stanford University (2002-3), Estonian Biocentre, as the Professor of Evolutionary Biology, University of Tartu (2005-6), and as a Lecturer and Reader in Human Evolutionary Genetics in the Department of Archaeology and Anthropology at the University of Cambridge (2006-2018). From 2018 he is a professor in the Department of Human Genetics at KU Leuven and a senior researcher at the Institute of Genomics, University of Tartu.

Genetics and archaeogenetics of South Asia is the study of the genetics and archaeogenetics of the ethnic groups of South Asia. It aims at uncovering these groups' genetic histories. The geographic position of the Indian subcontinent makes its biodiversity important for the study of the early dispersal of anatomically modern humans across Asia.

<span class="mw-page-title-main">Haplogroup M (mtDNA)</span> Widespread human mitochondrial DNA grouping indicating common ancestry

Haplogroup M is a human mitochondrial DNA (mtDNA) haplogroup. An enormous haplogroup spanning all the continents, the macro-haplogroup M, like its sibling the macro-haplogroup N, is a descendant of the haplogroup L3.

Haplogroup T is a human mitochondrial DNA (mtDNA) haplogroup. It is believed to have originated around 25,100 years ago in the Near East.

Haplogroup HV is a human mitochondrial DNA (mtDNA) haplogroup.

Haplogroup U is a human mitochondrial DNA haplogroup (mtDNA). The clade arose from haplogroup R, likely during the early Upper Paleolithic. Its various subclades are found widely distributed across Northern and Eastern Europe, Central, Western and South Asia, as well as North Africa, the Horn of Africa, and the Canary Islands.

<span class="mw-page-title-main">Haplogroup R (mtDNA)</span> Human mitochondrial DNA haplogroup

Haplogroup R is a widely distributed human mitochondrial DNA (mtDNA) haplogroup. Haplogroup R is associated with the peopling of Eurasia after about 70,000 years ago, and is distributed in modern populations throughout the world outside of sub-Saharan Africa.

<span class="mw-page-title-main">Haplogroup N (mtDNA)</span> Widespread human mitochondrial DNA grouping indicating common ancestry

Haplogroup N is a human mitochondrial DNA (mtDNA) clade. A macrohaplogroup, its descendant lineages are distributed across many continents. Like its sibling macrohaplogroup M, macrohaplogroup N is a descendant of the haplogroup L3.

<span class="mw-page-title-main">Haplogroup A (mtDNA)</span> Human mitochondrial DNA grouping indicating common ancestry

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

<span class="mw-page-title-main">Haplogroup C (mtDNA)</span> Human mitochondrial DNA haplogroup

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

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

Haplogroup I is a human mitochondrial DNA (mtDNA) haplogroup. It is believed to have originated about 21,000 years ago, during the Last Glacial Maximum (LGM) period in West Asia. The haplogroup is unusual in that it is now widely distributed geographically, but is common in only a few small areas of East Africa, West Asia and Europe. It is especially common among the El Molo and Rendille peoples of Kenya, various regions of Iran, the Lemko people of Slovakia, Poland and Ukraine, the island of Krk in Croatia, the department of Finistère in France and some parts of Scotland and Ireland.

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

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

Haplogroup O mtDNA is a haplogroup derived from haplogroup N and found in Oceania. Specifically, it is found among Aboriginal Australians. Its defining mutations are G6755A, C9140T, and G16213A.

<span class="mw-page-title-main">Genetic studies on Sinhalese</span>

Genetic studies on the Sinhalese is part of population genetics investigating the origins of the Sinhalese population.

Y-DNA haplogroups in populations of South Asia are haplogroups of the male Y-chromosome found in South Asian populations.

The study of the genetics and archaeogenetics of the Gujarati people of India aims at uncovering these people's genetic history. According to the 1000 Genomes Project, "Gujarati" is a general term used to describe people who trace their ancestry to the region of Gujarat, located in the northwestern part of the Indian subcontinent, and who speak the Gujarati language, an Indo-European language. They have some genetic commonalities as well as differences with other ethnic groups of India.

Listed here are notable groups and populations from South Asia by human mitochondrial DNA haplogroups based on relevant studies. The samples are taken from individuals identified with linguistic designations, the third column gives the sample size studied, and the other columns give the percentage of the particular haplogroup. The two most widespread MtDNA haplogroups in South Asia are Haplogroup M and Haplogroup U.

References

  1. 1 2 3 4 5 6 7 8 9 10 Metspalu, Mait; Kivisild, Toomas; Metspalu, Ene; Parik, Jüri; Hudjashov, Georgi; Kaldma, Katrin; Serk, Piia; Karmin, Monika; Behar, Doron M; Gilbert, M Thomas P; Endicott, Phillip; Mastana, Sarabjit; Papiha, Surinder S; Skorecki, Karl; Torroni, Antonio; Villems, Richard (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". BMC Genetics. 5: 26. doi: 10.1186/1471-2156-5-26 . PMC   516768 . PMID   15339343.
  2. 1 2 3 4 5 6 7 8 Maji, S; Krithika, S; Vasulu, TS (April 2009). "Phylogeographic distribution of mitochondrial DNA macrohaplogroup M in India". Journal of Genetics. 88 (1): 127–39. doi:10.1007/s12041-009-0020-3. PMID   19417557. S2CID   28080968.
  3. 1 2 3 4 Thangaraj, Kumarasamy; Chaubey, Gyaneshwer; Singh, Vijay; Vanniarajan, Ayyasamy; Thanseem, Ismail; Reddy, Alla G; Singh, Lalji (2006). "In situ origin of deep rooting lineages of mitochondrial Macrohaplogroup 'M' in India". BMC Genomics. 7: 151. doi: 10.1186/1471-2164-7-151 . PMC   1534032 . PMID   16776823.
  4. ↑ Sun, Chang; Kong, Qing-Peng; Palanichamy, Malliya gounder; Agrawal, Suraksha; Bandelt, Hans-Jürgen; Yao, Yong-Gang; Khan, Faisal; Zhu, Chun-Ling; et al. (2005). "The Dazzling Array of Basal Branches in the mtDNA Macrohaplogroup M from India as Inferred from Complete Genomes". Molecular Biology and Evolution. 23 (3): 683–90. doi: 10.1093/molbev/msj078 . PMID   16361303.
  5. ↑ Metspalu, Mait; Kivisild, Toomas; Metspalu, Ene; Parik, Jüri; Hudjashov, Georgi; Kaldma, Katrin; Serk, Piia; Karmin, Monika; Behar, Doron M; Gilbert, M Thomas P; Endicott, Phillip; Mastana, Sarabjit; Papiha, Surinder S; Skorecki, Karl; Torroni, Antonio; Villems, Richard (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". BMC Genetics. 5 (1): 26. doi: 10.1186/1471-2156-5-26 . PMC   516768 . PMID   15339343.
  6. ↑ Fernando, A. S.; Wanninayaka, A.; Dewage, D.; Karunanayake, E. H.; Rai, N.; Somadeva, R.; Tennekoon, K. H.; Ranasinghe, R. (February 2023). "The mitochondrial genomes of two Pre-historic Hunter Gatherers in Sri Lanka". Journal of Human Genetics. 68 (2): 103–105. doi:10.1038/s10038-022-01099-w. PMID   36450887. S2CID   254123028.
  7. ↑ A, Chandrasekar; al., et; Sreenath, Jwalapuram; Sarkar, Bishwa Nath; Urade, Bhaskar Pralhad; Mallick, Sujit; Bandopadhyay, Syam Sundar; Barua, Pinuma; Barik, Subihra Sankar; Basu, Debasish; Kiran, Uttaravalli; Gangopadhyay, Prodyot; Sahani, Ramesh; Prasad, Bhagavatula Venkata Ravi; Gangopadhyay, Shampa; Lakshmi, Gandikota Rama; Ravuri, Rajasekhara Reddy; Padmaja, Koneru; Venugopal, Pulamaghatta N.; Sharma, Madhu Bala; Rao, Vadlamudi Raghavendra (2009). "Updating Phylogeny of Mitochondrial DNA Macrohaplogroup M in India: Dispersal of Modern Human in South Asian Corridor". PLOS ONE. 4 (10): e7447. Bibcode:2009PLoSO...4.7447C. doi: 10.1371/journal.pone.0007447 . PMC   2757894 . PMID   19823670.
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