Phylogeny of Mitochondrial DNA Macrohaplogroup N in India, Based on Complete Sequencing: Implications for the Peopling of South Asia

• Published in: American journal of human genetics Vol. 75; no. 6; pp. 966 - 978
• Main Authors: Palanichamy, Malliya gounder, Sun, Chang, Agrawal, Suraksha, Bandelt, Hans-Jürgen, Kong, Qing-Peng, Khan, Faisal, Wang, Cheng-Ye, Chaudhuri, Tapas Kumar, Palla, Venkatramana, Zhang, Ya-Ping
• Format: Journal Article
• Language: English
• Published: Chicago, IL Elsevier Inc 01.12.2004; University of Chicago Press; The American Society of Human Genetics
• Subjects: Base Sequence; Biological and medical sciences; DNA, Mitochondrial - genetics; Emigration and Immigration; Ethnic Groups - genetics; General aspects. Genetic counseling; Genetics, Population; Geography; Haplotypes - genetics; Humans; India; Medical genetics; Medical sciences; Molecular Sequence Data; Phylogeny; Sequence Analysis, DNA; Asia; South Asia; India; Human; Haplogroup; Nucleotide sequence; Genetics; Mitochondrial DNA; Phylogeny; Sequencing
• ISSN: 0002-9297; 1537-6605
• DOI: 10.1086/425871

To resolve the phylogeny of the autochthonous mitochondrial DNA (mtDNA) haplogroups of India and determine the relationship between the Indian and western Eurasian mtDNA pools more precisely, a diverse subset of 75 macrohaplogroup N lineages was chosen for complete sequencing from a collection of >800 control-region sequences sampled across India. We identified five new autochthonous haplogroups (R7, R8, R30, R31, and N5) and fully characterized the autochthonous haplogroups (R5, R6, N1d, U2a, U2b, and U2c) that were previously described only by first hypervariable segment (HVS-I) sequencing and coding-region restriction-fragment–length polymorphism analysis. Our findings demonstrate that the Indian mtDNA pool, even when restricted to macrohaplogroup N, harbors at least as many deepest-branching lineages as the western Eurasian mtDNA pool. Moreover, the distribution of the earliest branches within haplogroups M, N, and R across Eurasia and Oceania provides additional evidence for a three-founder-mtDNA scenario and a single migration route out of Africa.