The initial peopling of the Americas: A growing number of founding mitochondrial genomes from Beringia

  1. Antonio Torroni2,7,8
  1. 1 Sorenson Molecular Genealogy Foundation, Salt Lake City, Utah 84115, USA;
  2. 2 Dipartimento di Genetica e Microbiologia, Università di Pavia, 27100 Pavia, Italy;
  3. 3 Dipartimento di Biologia Cellulare e Ambientale, Università di Perugia, 06123 Perugia, Italy;
  4. 4 Unidade de Xenética, Departamento de Anatomía Patolóxica e Ciencias Forenses and Instituto de Medicina Legal, Facultade de Medicina, Universidade de Santiago de Compostela, Santiago de Compostela, Galicia 15782, Spain;
  5. 5 Institute of Legal Medicine, Innsbruck Medical University, Innsbruck A-6020, Austria;
  6. 6 Servicio de Huellas Digitales Genéticas, Facultad de Farmacia y Bioquímica, Universidad de Buenos Aires, 1113 Buenos Aires, Argentina

    1. ↵7 These authors contributed equally to this work.

    Abstract

    Pan-American mitochondrial DNA (mtDNA) haplogroup C1 has been recently subdivided into three branches, two of which (C1b and C1c) are characterized by ages and geographical distributions that are indicative of an early arrival from Beringia with Paleo-Indians. In contrast, the estimated ages of C1d—the third subset of C1—looked too young to fit the above scenario. To define the origin of this enigmatic C1 branch, we completely sequenced 63 C1d mitochondrial genomes from a wide range of geographically diverse, mixed, and indigenous American populations. The revised phylogeny not only brings the age of C1d within the range of that of its two sister clades, but reveals that there were two C1d founder genomes for Paleo-Indians. Thus, the recognized maternal founding lineages of Native Americans are at least 15, indicating that the overall number of Beringian or Asian founder mitochondrial genomes will probably increase extensively when all Native American haplogroups reach the same level of phylogenetic and genomic resolution as obtained here for C1d.

    Footnotes

    • Received April 16, 2010.
    • Accepted May 19, 2010.

    Freely available online through the Genome Research Open Access option.

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    1. Published in Advance June 29, 2010, doi: 10.1101/gr.109231.110 Genome Res. 20: 1174-1179 Copyright © 2010 by Cold Spring Harbor Laboratory Press

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