The structure of diversity within new world mitochondrial DNA haplogroups: Implications for the prehistory of North America

Ripan S. Malhi, Jason A. Eshleman, Jonathan A. Greenberg, Deborah A. Weiss, Beth A. Schultz Shook, Frederika A. Kaestle, Joseph G. Lorenz, Brian M. Kemp, John R. Johnson, David Glenn Smith

Research output: Contribution to journalArticlepeer-review

Abstract

The mitochondrial DNA haplogroups and hypervariable segment I (HVSI) sequences of 1,612 and 395 Native North Americans, respectively, were analyzed to identify major prehistoric population events in North America. Gene maps and spatial autocorrelation analyses suggest that populations with high frequencies of haplogroups A, B, and X experienced prehistoric population expansions in the North, Southwest, and Great Lakes region, respectively. Haplotype networks showing high levels of reticulation and high frequencies of nodal haplotypes support these results. The haplotype networks suggest the existence of additional founding lineages within haplogroups B and C; however, because of the hypervariability exhibited by the HVSI data set, similar haplotypes exhibited in Asia and America could be due to convergence rather than common ancestry. The hypervariability and reticulation preclude the use of estimates of genetic diversity within haplogroups to argue for the number of migrations to the Americas.

Original languageEnglish (US)
Pages (from-to)905-919
Number of pages15
JournalAmerican Journal of Human Genetics
Volume70
Issue number4
DOIs
StatePublished - 2002
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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