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

    • 1Sorenson Molecular Genealogy Foundation, Salt Lake City, Utah 84115, USA;
    • 2Dipartimento di Genetica e Microbiologia, Università di Pavia, 27100 Pavia, Italy;
    • 3Dipartimento di Biologia Cellulare e Ambientale, Università di Perugia, 06123 Perugia, Italy;
    • 4Unidade 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;
    • 5Institute of Legal Medicine, Innsbruck Medical University, Innsbruck A-6020, Austria;
    • 6Servicio de Huellas Digitales Genéticas, Facultad de Farmacia y Bioquímica, Universidad de Buenos Aires, 1113 Buenos Aires, Argentina
Published June 29, 2010. https://doi.org/10.1101/gr.109231.110
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cover of Genome Research Vol 36 Issue 7
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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.

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