Genetic variation and population structure in Native Americans

Sijia Wang, Cecil M. Lewis, Mattias Jakobsson, Sohini Ramachandran, Nicolas Ray, Gabriel Bedoya, Winston Rojas, Maria V. Parra, Julio A. Molina, Carla Gallo, Guido Mazzotti, Giovanni Poletti, Kim Hill, Ana M. Hurtado, Damian Labuda, William Klitz, Ramiro Barrantes, Maria Catira Bortolini, Francisco M. Salzano, Maria Luiza Petzl-ErlerLuiza T. Tsuneto, Elena Llop, Francisco Rothhammer, Laurent Excoffier, Marcus W. Feldman, Noah A. Rosenberg, Andrés Ruiz-Linares

Research output: Contribution to journalArticlepeer-review

442 Scopus citations


We examined genetic diversity and population structure in the American landmass using 678 autosomal microsatellite markers genotyped in 422 individuals representing 24 Native American populations sampled from North, Central, and South America. These data were analyzed jointly with similar data available in 54 other indigenous populations worldwide, including an additional five Native American groups. The Native American populations have lower genetic diversity and greater differentiation than populations from other continental regions. We observe gradients both of decreasing genetic diversity as a function of geographic distance from the Bering Strait and of decreasing genetic similarity to Siberians - signals of the southward dispersal of human populations from the northwestern tip of the Americas. We also observe evidence of: (1) a higher level of diversity and lower level of population structure in western South America compared to eastern South America, (2) a relative lack of differentiation between Mesoamerican and Andean populations, (3) a scenario in which coastal routes were easier for migrating peoples to traverse in comparison with inland routes, and (4) a partial agreement on a local scale between genetic similarity and the linguistic classification of populations. These findings offer new insights into the process of population dispersal and differentiation during the peopling of the Americas.

Original languageEnglish (US)
Pages (from-to)2049-2067
Number of pages19
JournalPLoS genetics
Issue number11
StatePublished - Nov 2007
Externally publishedYes

ASJC Scopus subject areas

  • Ecology, Evolution, Behavior and Systematics
  • Molecular Biology
  • Genetics
  • Genetics(clinical)
  • Cancer Research


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