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Large scale mitochondrial sequencing in Mexican Americans suggests a reappraisal of Native American origins


Kumar, S and Bellis, C and Zlojutro, M and Melton, PE and Blangero, J and Curran, JE, Large scale mitochondrial sequencing in Mexican Americans suggests a reappraisal of Native American origins, BMC Evolutionary Biology, 11 pp. 1-17. ISSN 1471-2148 (2011) [Refereed Article]

PDF (BMC Evol Biol . 2011 Oct 7;11:293)

Copyright Statement

Copyright 2011 Kumar et al; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

DOI: doi:10.1186/1471-2148-11-293


Background: The Asian origin of Native Americans is largely accepted. However uncertainties persist regarding the source population(s) within Asia, the divergence and arrival time(s) of the founder groups, the number of expansion events, and migration routes into the New World. mtDNA data, presented over the past two decades, have been used to suggest a single-migration model for which the Beringian land mass plays an important role.

Results: In our analysis of 568 mitochondrial genomes, the coalescent age estimates of shared roots between Native American and Siberian-Asian lineages, calculated using two different mutation rates, are A4 (27.5 6.8 kya/22.7 7.4 kya), C1 (21.4 2.7 kya/16.4 1.5 kya), C4 (21.0 4.6 kya/20.0 6.4 kya), and D4e1 (24.1 9.0 kya/17.9 10.0 kya). The coalescent age estimates of pan-American haplogroups calculated using the same two mutation rates (A2:19.5 1.3 kya/16.1 1.5 kya, B2:20.8 2.0 kya/18.1 2.4 kya, C1:21.4 2.7 kya/16.4 1.5 kya and D1:17.2 2.0 kya/14.9 2.2 kya) and estimates of population expansions within America (~21-16 kya), support the pre-Clovis occupation of the New World. The phylogeography of sublineages within American haplogroups A2, B2, D1 and the C1b, C1c and C1d subhaplogroups of C1 are complex and largely specific to geographical North, Central and South America. However some sub-branches (B2b, C1b, C1c, C1d and D1f) already existed in American founder haplogroups before expansion into the America.

Conclusions: Our results suggest that Native American founders diverged from their Siberian-Asian progenitors sometime during the last glacial maximum (LGM) and expanded into America soon after the LGM peak (~20-16 kya). The phylogeography of haplogroup C1 suggest that this American founder haplogroup differentiated in Siberia-Asia. The situation is less clear for haplogroup B2, however haplogroups A2 and D1 may have differentiated soon after the Native American founders divergence. A moderate population bottle neck in American founder populations just before the expansion most plausibly resulted in few founder types in America. The similar estimates of the diversity indices and Bayesian skyline analysis in North America, Central America and South America suggest almost simultaneous (~ 2.0 ky from South to North America) colonization of these geographical regions with rapid population expansion differentiating into more or less regional branches across the pan-American haplogroups.

Item Details

Item Type:Refereed Article
Keywords:mitochondrial DNA, Bayesian, American Indians, Mexican Americans, Americas, Latin America
Research Division:Biological Sciences
Research Group:Genetics
Research Field:Anthropological genetics
Objective Division:Expanding Knowledge
Objective Group:Expanding knowledge
Objective Field:Expanding knowledge in the biological sciences
UTAS Author:Melton, PE (Dr Phillip Melton)
ID Code:141470
Year Published:2011
Web of Science® Times Cited:64
Deposited By:Menzies Institute for Medical Research
Deposited On:2020-10-22
Last Modified:2021-06-30
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