Reconstructing ancient mitochondrial DNA links between Africa and Europe

  1. Antonio Salas1,7,8
  1. 1Unidade de Xenética, Departamento de Anatomía Patolóxica e Ciencias Forenses, and Instituto de Ciencias Forenses, Facultade de Medicina, Universidad de Santiago de Compostela, Santiago de Compostela, 15782 Galicia, Spain;
  2. 2Dipartimento di Biologia Cellulare e Ambientale, Università di Perugia, 06123 Perugia, Italy;
  3. 3Dipartimento di Biologia e Biotecnologie, Università di Pavia, 27100 Pavia, Italy;
  4. 4Sorenson Molecular Genealogy Foundation, Salt Lake City, Utah 84115, USA;
  5. 5Department of Zoology, University of Oxford, Oxford OX1 3PS, United Kingdom;
  6. 6Instituto Nacional de Toxicología y Ciencias Forenses, 41018 Sevilla, Spain
    1. 7 These authors contributed equally to this work.

    Abstract

    Mitochondrial DNA (mtDNA) lineages of macro-haplogroup L (excluding the derived L3 branches M and N) represent the majority of the typical sub-Saharan mtDNA variability. In Europe, these mtDNAs account for <1% of the total but, when analyzed at the level of control region, they show no signals of having evolved within the European continent, an observation that is compatible with a recent arrival from the African continent. To further evaluate this issue, we analyzed 69 mitochondrial genomes belonging to various L sublineages from a wide range of European populations. Phylogeographic analyses showed that ∼65% of the European L lineages most likely arrived in rather recent historical times, including the Romanization period, the Arab conquest of the Iberian Peninsula and Sicily, and during the period of the Atlantic slave trade. However, the remaining 35% of L mtDNAs form European-specific subclades, revealing that there was gene flow from sub-Saharan Africa toward Europe as early as 11,000 yr ago.

    Footnotes

    • Received November 7, 2011.
    • Accepted February 29, 2012.

    This article is distributed exclusively by Cold Spring Harbor Laboratory Press for the first six months after the full-issue publication date (see http://genome.cshlp.org/site/misc/terms.xhtml). After six months, it is available under a Creative Commons License (Attribution-NonCommercial 3.0 Unported License), as described at http://creativecommons.org/licenses/by-nc/3.0/.

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