TY - JOUR
T1 - Large scale mitochondrial sequencing in Mexican Americans suggests a reappraisal of Native American origins
AU - Kumar, Satish
AU - Bellis, Claire
AU - Zlojutro, Mark
AU - Melton, Phillip E.
AU - Blangero, John
AU - Curran, Joanne E.
N1 - Funding Information:
We are grateful to the participants in the San Antonio Family Heart Study. Data collection was supported by a grant from the US National Institute for Heart, Lung and Blood (HL045222). Additionally, this work was supported by National Institutes of Health grant MH059490, and a research grant from the San Antonio Area Foundation. This investigation was conducted in facilities constructed with support from Research Facilities Improvement Program Grant Numbers C06 RR013556 and C06 RR017515 from the National Center for Research Resources, National Institutes of Health. The AT&T Genomics Computing Center supercomputing facilities used for this work was supported in part by a gift from the AT&T Foundation.
PY - 2011
Y1 - 2011
N2 - 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 andC1d 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.
AB - 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 andC1d 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.
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U2 - 10.1186/1471-2148-11-293
DO - 10.1186/1471-2148-11-293
M3 - Article
C2 - 21978175
AN - SCOPUS:80053525593
VL - 11
JO - BMC Evolutionary Biology
JF - BMC Evolutionary Biology
SN - 1471-2148
IS - 1
M1 - 293
ER -