Identification of Native American Founder mtDNAs Through the Analysis of Complete mtDNA Sequences: Some Caveats

• Published in: Annals of human genetics Vol. 67; no. 6; pp. 512 - 524
• Main Authors: Bandelt, H.‐J., Herrnstadt, C., Yao, Y.‐G., Kong, Q.‐P., Kivisild, T., Rengo, C., Scozzari, R., Richards, M., Villems, R., Macaulay, V., Howell, N., Torroni, A., Zhang, Y.‐P.
• Format: Journal Article
• Language: English
• Published: 9600 Garsington Road , Oxford OX4 2DQ , UK Blackwell Science Ltd 01.11.2003; Cambridge University Press
• Subjects: American Native Continental Ancestry Group - genetics; Asian Continental Ancestry Group - genetics; Base Sequence; Biological and medical sciences; DNA, Mitochondrial - genetics; Founder Effect; Fundamental and applied biological sciences. Psychology; Genetics of eukaryotes. Biological and molecular evolution; Haplotypes - genetics; Human; Humans; Molecular Sequence Data; Mutation - genetics; Population genetics, reproduction patterns; Research Design; Sequence Analysis, DNA; United States; United States; Human; Mitochondrial DNA; Identification; American; Founder effect; Population genetics
• ISSN: 0003-4800; 1469-1809
• DOI: 10.1046/j.1469-1809.2003.00049.x

Summary In this study, a detailed analysis of both previously published and new data was performed to determine whether complete, or almost complete, mtDNA sequences can resolve the long‐debated issue of which Asian mtDNAs were founder sequences for the Native American mtDNA pool. Unfortunately, we now know that coding region data and their analysis are not without problems. To obtain and report reasonably correct sequences does not seem to be a trivial task, and to discriminate between Asian and Native American mtDNA ancestries may be more complex than previously believed. It is essential to take into account the effects of mutational hot spots in both the control and coding regions, so that the number of apparent Native American mtDNA founder sequences is not erroneously inflated. As we report here, a careful analysis of all available data indicates that there is very little evidence that more than five founder mtDNA sequences entered Beringia before the Last Glacial Maximum and left their traces in the current Native American mtDNA pool.