Copyright © 2003 The American Society of Human Genetics. All rights reserved.
The American Journal of Human Genetics, Volume 73, Issue 3, 524-539, 1 September 2003
doi:10.1086/377588
Y-Chromosome Evidence for Differing Ancient Demographic Histories in the Americas
Maria-Catira Bortolini1, 2, Francisco M. Salzano2, Mark G. Thomas1, Steven Stuart1, Selja P.K. Nasanen1, Claiton H.D. Bau2, Mara H. Hutz2, Zulay Layrisse3, Maria L. Petzl-Erler4, Luiza T. Tsuneto4, Kim Hill5, Ana M. Hurtado5, Dinorah Castro-de-Guerra3, Maria M. Torres6, Helena Groot6, Roman Michalski7, Pagbajabyn Nymadawa8, Gabriel Bedoya9, Neil Bradman1, Damian Labuda10 and Andres Ruiz-Linares1, 9, 
, 
1 Department of Biology, University College, London
2 Departamento de Genética, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil
3 Instituto Venezolano de Investigaciones Científicas, Caracas, Venezuela
4 Departamento de Genética, Universidade Federal do Paraná, Curitiba, Brazil
5 Department of Anthropology, University of New Mexico, Albuquerque
6 Laboratorio de Genética Humana, Universidad de los Andes, Bogotá
7 Victoria Hospital, Prince Albert, Canada
8 Subassembly of Medical Sciences, Mongolian Academy of Sciences, Ulaanbaatar, Mongolia
9 Laboratorio de Genética Molecular, Facultad de Medicina, Universidad de Antioquia, Medellín, Colombia
10 Université de Montreal, Montreal
Address for correspondence and reprints: Dr. Andrés Ruiz-Linares, Department of Biology, Wolfson House, University College London, 4 Stephenson Way, London NW1 2HE, United KingdomAbstract
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.
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