Mitochondrial genome diversity of native americans supports a single early entry of founder populations into America

Wilson A. Silva, Sandro L. Bonatto, Adriano J. Holanda, Andrea K. Ribeiro-dos-Santos, Beatriz M. Paixão, Gustavo H. Goldman, Kiyoko Abe-Sandes, Luis Rodriguez-Delfin, Marcela Barbosa, Maria Luiza Paçó-Larson, Maria Luiza Petzl-Erler, Valeria Valente, Sidney E.B. Santos, Marco A. Zago

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85 Scopus citations


There is general agreement that the Native American founder populations migrated from Asia into America through Beringia sometime during the Pleistocene, but the hypotheses concerning the ages and the number of these migrations and the size of the ancestral populations are surrounded by controversy. DNA sequence variations of several regions of the genome of Native Americans, especially in the mitochondrial DNA (mtDNA) control region, have been studied as a tool to help answer these questions. However, the small number of nucleotides studied and the nonclocklike rate of mtDNA control-region evolution impose several limitations to these results. Here we provide the sequence analysis of a continuous region of 8.8 kb of the mtDNA outside the D-loop for 40 individuals, 30 of whom are Native Americans whose mtDNA belongs to the four founder haplogroups. Haplogroups A, B, and C form monophyletic clades, but the five haplogroup D sequences have unstable positions and usually do not group together. The high degree of similarity in the nucleotide diversity and time of differentiation (i.e., ∼21, 000 years before present) of these four haplogroups support a common origin for these sequences and suggest that the populations who harbor them may also have a common history. Additional evidence supports the idea that this age of differentiation coincides with the process of colonization of the New World and supports the hypothesis of a single and early entry of the ancestral Asian population into the Americas.

Original languageEnglish
Pages (from-to)187-192
Number of pages6
JournalAmerican Journal of Human Genetics
Issue number1
StatePublished - 2002
Externally publishedYes

Bibliographical note

Funding Information:
The authors thank Adriana A. Marques, Cristiane A. Ferreira, Rafaela M. Maia, Bruno M. Carvalho, and Ana Cecilia F. Santos, for expert technical assistance, and Israel T. Silva and Rodrigo M. Souza, for their contribution to the bioinformatics analysis. This work was supported by Grants of the Research Foundation of the State of São Paulo (FAPESP) and the National Research Council of Brazil (CNPq).


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