Different population histories of the Mundari- and Mon-Khmer-speaking Austro-Asiatic tribes inferred from the mtDNA 9-bp deletion/insertion polymorphism in Indian populations

Abstract

Length variation in the human mtDNA intergenic region between the cytochrome oxidase II (COII) and tRNA lysine (tRNA(lys)) genes has been widely studied in world populations. Specifically, Austronesian populations of the Pacific and Austro-Asiatic populations of southeast Asia most frequently carry the 9-bp deletion in that region implying their shared common ancestry in haplogroup B. Furthermore, multiple independent origins of the 9-bp deletion at the background of other mtDNA haplogroups has been shown in populations of Africa, Europe, Australia, and India. We have analyzed 3293 Indian individuals belonging to 58 populations, representing different caste, tribal, and religious groups, for the length variation in the 9-bp motif. The 9-bp deletion (one copy) and insertion (three copies) alleles were observed in 2.51% (2.15% deletion and 0.36% insertion) of the individuals. The maximum frequency of the deletion (45.8%) was observed in the Nicobarese in association with the haplogroup B5a D-loop motif that is common throughout southeast Asia. The low polymorphism in the D-loop sequence of the Nicobarese B5a samples suggests their recent origin and a founder effect, probably involving migration from southeast Asia. Interestingly, none of the 302 (except one Munda sample, which has 9-bp insertion) from Mundari-speaking Austro-Asiatic populations from the Indian mainland showed the length polymorphism of the 9-bp motif, pointing either to their independent origin from the Mon-Khmeric-speaking Nicobarese or to an extensive admixture with neighboring Indo-European-speaking populations. Consistent with previous reports, the Indo-European and Dravidic populations of India showed low frequency of the 9-bp deletion/insertion. More than 18 independent origins of the deletion or insertion mutation could be inferred in the phylogenetic analysis of the D-loop sequences.

Hemoglobin E in Northeast India: A review on its origin, distribution, migration and health implication

“…But this is not the case in reality and thus goes against the view point of Kayser et al (2003) on Austro-Asiatic migration from Southeast Asia to India. However mtDNA markers show a different picture of migration as suggested by Kumar et al (2006) and Thangaraj et al (2005). The foundation of M31 and M32 macrohaplogroup of mt DNA in India along with its migration shows some new insight like recent gene flow from Northeast India to Southeast Asia (Barik et al 2009, Wang et al 2011.…”

Genetic Imprints of Pleistocene Origin of Indian Populations: A Comprehensive Phylogeographic Sketch of Indian Y-Chromosomes

“…Presence of an Austro-Asiatic speaking tribe, Khasi, among the Tibeto-Burman speaking neighbors in the northeast corroborates this assumption. While the Tibeto-Burman speakers brought in a number of East Asian maternal lineages (A, B5b, F1b, M8c, M8z) (Metspalu et al 2004), absence of these lineages in AustroAsiatic tribes (Thangaraj et al 2005;Sahoo 2006a) portrays two different scenarios. First, the earlier exodus from South East Asia was probably a major male-mediated migration into India, or that the female gene pool of the migrating East Asians is completely lost among the Austro-Asiatic tribes.…”

Phylogeography of mitochondrial DNA and Y-Chromosome haplogroups reveal asymmetric gene flow in populations of Eastern India

“…Their maternal lineages, on the other hand, are diverse but largely Indian, consisting of M*, M3a, M5, M5b, M6, M30, and R6, and completely lacking East Eurasian-specific mitochondrial haplogroups such as A, F2, D4, M7, M8, and 9-bp deletions (Roychoudhary et al, 2001;Metspalu et al, 2004;Thangaraj et al, 2005a; present study). Recently, Thangaraj et al (2005a) reported the presence of a few Southeast Asian-specific mtDNA haplogroups (B4 and B5a) in mainland Indo-European and Dravidian populations, but none of these haplogroups were found among the 302 Mundari-speakers analyzed in the study. This provides clear evidence that founders of the male gene pool of Austro-Asiatic tribes of India probably belonged to Southeast Asia, while their female counterparts exclusively harbor Indian-specific maternal lineages.…”

“…The O2a Y-chromosome haplogroup contributed to almost 60% of their paternal gene pool, indicating a common paternal ancestry, probably among the Austro-Asiatic speakers of South China, the place of geographic origin for O2a (Karafet et al, 2001). Their maternal lineages, on the other hand, are diverse but largely Indian, consisting of M*, M3a, M5, M5b, M6, M30, and R6, and completely lacking East Eurasian-specific mitochondrial haplogroups such as A, F2, D4, M7, M8, and 9-bp deletions (Roychoudhary et al, 2001;Metspalu et al, 2004;Thangaraj et al, 2005a; present study). Recently, Thangaraj et al (2005a) reported the presence of a few Southeast Asian-specific mtDNA haplogroups (B4 and B5a) in mainland Indo-European and Dravidian populations, but none of these haplogroups were found among the 302 Mundari-speakers analyzed in the study.…”

“…The origin and genetic structure of Indian populations (Mukerjee et al, 2001;Basu et al, 2003;Thangaraj et al, 2003Thangaraj et al, , 2005aEndicott et al, 2003;Kivisild et al, 1999Kivisild et al, , 2003Cordaux et al, 2004a,b;Metspalu et al, 2004) and the spread of agriculture and language into the subcontinent (Quintana-Murci et al, 2001;Cordaux et al, 2004c) were also evaluated using these uniparental markers.…”