Y-chromosome evidence for differing ancient demographic histories in the Americas

Maria Catira Bortolini, Francisco M. Salzano, Mark G. Thomas, Steven Stuart, Selja P.K. Nasanen, Claiton H.D. Bau, Mara H. Hutz, Zulay Layrisse, Maria L. Petzl-Erler, Luiza T. Tsuneto, Kim Hill, Ana M. Hurtado, Dinorah Castro-De-Guerra, Maria M. Tortes, Helena Groot, Roman Michalski, Pagbajabyn Nymadawa, Gabriel Bedoya, Neil Bradman, Damian LabudaAndres Ruiz-Linares

Research output: Contribution to journalArticlepeer-review

170 Scopus citations


To scrutinize the male ancestry of extant Native American populations, we examined eight biallelic and six microsatellite polymorphisms from the nonrecombining portion of the Y chromosome, in 438 individuals from 24 Native American populations (1 Na Dené and 23 South Amerinds) and in 404 Mongolians. One of the biallelic markers typed is a recently identified mutation (M242) characterizing a novel founder Native American haplogroup. The distribution, relatedness, and diversity of Y lineages in Native Americans indicate a differentiated male ancestry for populations from North and South America, strongly supporting a diverse demographic history for populations from these areas. These data are consistent with the occurrence of two major male migrations from southern/central Siberia to the Americas (with the second migration being restricted to North America) and a shared ancestry in central Asia for some of the initial migrants to Europe and the Americas. The microsatellite diversity and distribution of a Y lineage specific to South America (Q-M19) indicates that certain Amerind populations have been isolated since the initial colonization of the region, suggesting an early onset for tribalization of Native Americans. Age estimates based on Y-chromosome microsatellite diversity place the initial settlement of the American continent at ∼14,000 years ago, in relative agreement with the age of well-established archaeological evidence.

Original languageEnglish (US)
Pages (from-to)524-539
Number of pages16
JournalAmerican Journal of Human Genetics
Issue number3
StatePublished - Sep 1 2003
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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