In situ origin of deep rooting lineages of mitochondrial Macrohaplogroup 'M' in India

Gyaneshwer Chaubey,Kumarasamy Thangaraj,Ayyasamy Vanniarajan,Alla G Reddy,Vijay Kumar Singh,Ismail Thanseem,Lalji Singh

doi:10.1186/1471-2164-7-151

Gyaneshwer Chaubey, Kumarasamy Thangaraj + Show 5 more

Open Access

https://doi.org/10.1186/1471-2164-7-151

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Abstract

BackgroundMacrohaplogroups 'M' and 'N' have evolved almost in parallel from a founder haplogroup L3. Macrohaplogroup N in India has already been defined in previous studies and recently the macrohaplogroup M among the Indian populations has been characterized. In this study, we attempted to reconstruct and re-evaluate the phylogeny of Macrohaplogroup M, which harbors more than 60% of the Indian mtDNA lineage, and to shed light on the origin of its deep rooting haplogroups.ResultsUsing 11 whole mtDNA and 2231 partial coding sequence of Indian M lineage selected from 8670 HVS1 sequences across India, we have reconstructed the tree including Andamanese-specific lineage M31 and calculated the time depth of all the nodes. We defined one novel haplogroup M41, and revised the classification of haplogroups M3, M18, and M31.ConclusionOur result indicates that the Indian mtDNA pool consists of several deep rooting lineages of macrohaplogroup 'M' suggesting in-situ origin of these haplogroups in South Asia, most likely in the India. These deep rooting lineages are not language specific and spread over all the language groups in India. Moreover, our reanalysis of the Andamanese-specific lineage M31 suggests population specific two clear-cut subclades (M31a1 and M31a2). Onge and Jarwa share M31a1 branch while M31a2 clade is present in only Great Andamanese individuals. Overall our study supported the one wave, rapid dispersal theory of modern humans along the Asian coast.

Highlights

Macrohaplogroups 'M' and 'N' have evolved almost in parallel from a founder haplogroup L3
MtDNA studies based on HVS I in Indian populations have been carried out, and some information have been made available about the genetic structure of Indian gene pool [3,4,5,6,7,8,9]
The lack of time depth and classification of subhalogroups in the case of most of the lineages in the recent paper [11] tends us to reconstruct the phylogeny of macrohaplogroup M, which harbors more than 60% of the Indian mitochondrial DNA (mtDNA) lineage [1,3,4,5,6,7,8,9]

Summary

Introduction

Macrohaplogroups 'M' and 'N' have evolved almost in parallel from a founder haplogroup L3. Macrohaplogroup N in India has already been defined in previous studies and recently the macrohaplogroup M among the Indian populations has been characterized. We attempted to reconstruct and re-evaluate the phylogeny of Macrohaplogroup M, which harbors more than 60% of the Indian mtDNA lineage, and to shed light on the origin of its deep rooting haplogroups. MtDNA studies based on HVS I in Indian populations have been carried out, and some information have been made available about the genetic structure of Indian gene pool [3,4,5,6,7,8,9]. Macrohaplogroup N in India has already been defined [10], and recently the macrohaplogroup M among the Indian populations has been characterized [11]

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Conclusion