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

doi:10.1046/j.1469-1809.2003.00049.x

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Wiley InterScience

Annals of Human Genetics

Volume 67 Issue 6, Pages 512 - 524

Published Online: 6 Oct 2003

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

H.-J. Bandelt ^1, *, C. Herrnstadt ² , Y.-G. Yao ³ , Q.-P. Kong ³ , T. Kivisild ^4,5 , C. Rengo ⁶ , R. Scozzari ⁷ , M. Richards ⁸ , R. Villems ⁴ , V. Macaulay ⁹ , N. Howell ^2,10 , A. Torroni ¹¹ and Y.-P. Zhang ³

¹ Fachbereich Mathematik, Universität Hamburg, Hamburg, Germany ² MitoKor, San Diego, California, USA ³ Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, Yunnan, China ⁴ Department of Evolutionary Biology, Tartu University and Estonian Biocentre, Tartu, Estonia ⁵ Department of Genetics, Stanford University, Stanford, California, USA ⁶ Istituto di Medicina Legale, Università Cattolica del Sacro Cuore, Rome, Italy ⁷ Dipartimento di Genetica e Biologia Molecolare, Università"La Sapienza", Rome, Italy ⁸ Department of Chemical and Biological Sciences, University of Huddersfield, Huddersfield, UK ⁹ Department of Statistics, University of Oxford, Oxford, UK ¹⁰ Department of Radiation Oncology, University of Texas Medical Branch, Galveston, Texas, USA ¹¹ Dipartimento di Genetica e Microbiologia, Università di Pavia, Pavia, Italy

*Correspondence: Prof. Dr. Hans-Jürgen Bandelt, FB Mathematik, Universität Hamburg, Bundesstr. 55, 20146 Hamburg, Germany. Fax: +49-40-42838-5190. E-mail: bandelt@math.uni-hamburg.de

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.

Received: 29 November 2002
Accepted: 8 April 2003

DIGITAL OBJECT IDENTIFIER (DOI)

10.1046/j.1469-1809.2003.00049.x About DOI