Multiple origins of the mtDNA 9‐bp deletion in populations of South India

Watkins, W. Scott; Bamshad, Mike; Dixon, Missy; Rao, B. B.; Naidu, J. M.; Reddy, P. Govinda; Prasad, Binod; Das, Pragnya; Reddy, P. Chandrasekhar; Gai, Pramod B; Bhanu, A.; Kusuma, Yadlapalli S.; Lum, J. Koji; Fischer, Philip R.; Jorde, L. B.

doi:10.1002/(sici)1096-8644(199906)109:2<147::aid-ajpa1>3.3.co;2-3

Cited by 7 publications

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“…Earlier studies (Barnabas et al 2000;Clark et al 2000;Watkins et al 1999) have also indicated that this 9-bp deletion is extremely infrequent in India. As observed by us earlier (Roychoudhury et al 2000), there is extensive sharing of haplotypes across ethnic groups; one haplotype (00111101010) was modal across all the populations.…”

Section: Figmentioning

confidence: 82%

Genomic structures and population histories of linguistically distinct tribal groups of India

et al. 2001

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There are various conflicting hypotheses regarding the origins of the tribal groups of India, who belong to three major language groups--Austro-Asiatic, Dravidian and Tibeto-Burman. To test some of the major hypotheses we designed a genetic study in which we sampled tribal populations belonging to all the three language groups. We used a set of autosomal DNA markers, mtDNA restriction-site polymorphisms (RSPs) and mtDNA hypervariable segment-1 (HVS-1) sequence polymorphisms in this study. Using the unlinked autosomal markers we found that there is a fair correspondence between linguistic and genomic affinities among the Indian tribal groups. We reconstructed mtDNA RSP haplotypes and found that there is extensive haplotype sharing among all tribal populations. However, there is very little sharing of mtDNA HVS-1 sequences across populations, and none across language groups. Haplogroup M is ubiquitous, and the subcluster U2i of haplogroup U occurs in a high frequency. Our analyses of haplogroup and HVS-1 sequence data provides evidence in support of the hypothesis that the Austro-Asiatic speakers are the most ancient inhabitants of India. Our data also support the earlier finding that some of the western Eurasian haplogroups found in India may have been present in India prior to the entry of Aryan speakers. However, we do not find compelling evidence to support the theory that haplogroup M was brought into India on an "out of Africa" wave of migration through a southern exit route from Ethiopia. On the contrary, our data raise the possibility that this haplogroup arose in India and was later carried to East Africa from India.

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Section: Figmentioning

confidence: 82%

Genomic structures and population histories of linguistically distinct tribal groups of India

et al. 2001

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“…2). Previously published mtDNA data that was considered here included 78 Africans (32 with the deletion), 336 Amerindians (63 with the deletion), 118 Australian aboriginals (4 with the deletion), 29 Taiwan aboriginals (12 with the deletion), 74 Pacific Islanders with the 9-bp deletion (27 Indonesians, 23 coastal Papua New Guinea, and 24 Samoan), 99 Indians (6 Nicobarese and 22 South Indians with the deletion), 6 Chinese, and 4 Cambodians with the deletion (Ward et al 1991(Ward et al , 1993Vigilant et al 1991;Santos et al 1994;Kolman et al 1995;Redd et al 1995;Mountain et al 1995;Betty et al 1996;van Holst Pellekaan et al 1998;Melton et al 1998;Krings et al 1999;Watkins et al 1999). Except for the 28 Taiwan aboriginal (Melton et al 1998) and 71 Indians (Mountain et al 1995) sequences from Dr. T. Melton and Dr. J. L. Mountain respectively, all other sequences were from the mtDNA database (http://www.eva.mpg.de/hvrbase; Handt et al 1998) or GenBank.…”

Section: Data Analysesmentioning

confidence: 99%

“…The deletion motif occurs at varying frequencies in Asian, Oceanic, and Amerindian populations (Ballinger et al 1992;Harihara et al 1992;Passarino et al 1993;Sykes et al 1995;Betty et al 1996;Melton et al 1995Melton et al , 1998Lum et al 1998;Merriwether et al 1999;Watkins et al 1999;Shurr et al 1990;Ward et al 1991;Shields et al 1992;Kolman et al 1995). Additional reports have demonstrated the presence of the 9-bp deletion in African (Soodyall et al 1996;Watkins et al 1999) and European (Torroni et al 1995;Thomas et al 1998) populations. The coalescent times of the 9-bp deletion haplotypes are estimated to be 50,000-70,000 years before present (YBP; Redd et al 1995;Soodyall et al 1996; Thomas et al 1998).…”

Section: Introductionmentioning

confidence: 99%

“…The coalescent times of the 9-bp deletion haplotypes are estimated to be 50,000-70,000 years before present (YBP; Redd et al 1995;Soodyall et al 1996; Thomas et al 1998). Phylogenetic analyses of these mtDNA haplotypes also suggest multiple independent origins of the 9-bp deletion in Africa (Soodyall et al 1996;Watkins et al 1999), Europe (Torroni et al 1995;Thomas et al 1998), and Asia (Ballinger et al 1992;Redd et al 1995;Watkins et al 1999). Despite multiple origins of the 9-bp deletion, the deletion motif remains a useful marker for tracing population affinities and migration patterns.…”

Section: Introductionmentioning

confidence: 99%

“…In Africa, the distributions of the 9-bp deletion are concordant with the migration route of the recent "Bantu expansion" (Soodyall et al 1996). Thus, the analysis of 9-bp deletion haplotypes in world populations may demonstrate their genetic contributors and elucidate population evolutionary history (Merriwether et al 1999;Watkins et al 1999;Alves-Silva et al 1999b).…”

Section: Introductionmentioning

confidence: 99%

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Evolutionary history of the mtDNA 9-bp deletion in Chinese populations and its relevance to the peopling of east and southeast Asia

2000

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In total, 1218 Chinese from twelve ethnic groups and nine Han geographic groups were screened for the mtDNA 9-bp deletion motif. The frequency of the 9-bp deletion in all samples was 14.7% but ranged from 0% to 32% in the various ethnic groups. Three individuals had a triplication of the 9-bp segment. Phylogenetic and demographic analyses of the mtDNA hypervariable segment 1 (HVS1) sequences suggest that the 9-bp deletion occurred more than once in China. The majority of the Chinese deletion haplotypes (about 90%) have a common origin as a mutational event following an initial expansion of modern humans in eastern Asia. Other deletion haplotypes and the three haplotypes with a 9-bp triplication may have arisen independently in the Chinese, presumably by replication error. HVS1 haplotype analysis suggests two possible migration routes of the 9-bp deletion in east and southeast Asia. Both migrations originated in China with one route leading to the Pacific Islands via Taiwan, the other to southeast Asia and possibly the Nicobar Islands. Along both routes of peopling, a decrease in HVS1 diversity of the mtDNA haplotypes is observed. The "Polynesian motif

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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

et al. 2005

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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.

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Multiple origins of the mtDNA 9‐bp deletion in populations of South India

Cited by 7 publications

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Genomic structures and population histories of linguistically distinct tribal groups of India

Genomic structures and population histories of linguistically distinct tribal groups of India

Evolutionary history of the mtDNA 9-bp deletion in Chinese populations and its relevance to the peopling of east and southeast Asia

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

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