X-chromosome lineages and the settlement of the Americas

Stephane Bourgeois, Vania Yotova, Sijia Wang, Sylvie Bourtoumieu, Claudia Moreau, Roman Michalski, Jean Paul Moisan, Kim Hill, Ana Hurtado, Andres Ruiz-Linares, Damian Labuda

Research output: Contribution to journalArticlepeer-review

14 Scopus citations


Most genetic studies on the origins of Native Americans have examined data from mtDNA and Y-chromosome DNA. To complement these studies and to broaden our understanding of the origin of Native American populations, we present an analysis of 1,873 X-chromosomes representing Native American (n = 438) and other continental populations (n = 1,435). We genotyped 36 polymorphic sites, forming an informative haplotype within an 8-kb DNA segment spanning exon 44 of the dystrophin gene. The data reveal continuity from a common Eurasian ancestry between Europeans, Siberians, and Native Americans. However, the loss of two haplotypes frequent in Eurasia (18.8 and 7%) and the rise in frequency of a third haplotype rare elsewhere, indicate a major population bottleneck in the peopling of the Americas. Although genetic drift appears to have played a greater role in the genetic differentiation of Native Americans than in the latitudinally distributed Eurasians, we also observe a signal of a differentiated ancestry of southern and northern populations that cannot be simply explained by the serial southward dilution of genetic diversity. It is possible that the distribution of X-chromosome lineages reflects the genetic structure of the population of Beringia, itself issued from founder effects and a source of subsequent southern colonization(s).

Original languageEnglish (US)
Pages (from-to)417-428
Number of pages12
JournalAmerican journal of physical anthropology
Issue number3
StatePublished - Nov 2009


  • Amerindians
  • Genetic structure
  • Migration
  • Population genetics

ASJC Scopus subject areas

  • Anatomy
  • Anthropology


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