Copyright © 2001 The American Society of Human Genetics. All rights reserved.
The American Journal of Human Genetics, Volume 68, Issue 6, 1485-1496, 1 June 2001
doi:10.1086/320601
Eduardo Tarazona-Santos1, 3, Denise R. Carvalho-Silva1, Davide Pettener3, Donata Luiselli3, Gian Franco De Stefano4, Cristina Martinez Labarga4, Olga Rickards4, Chris Tyler-Smith5, Sérgio D.J. Pena1 and Fabrício R. Santos2,
, 
1 Departamentos de Bioquímica e Imunologia Universidade Federal de Minas Gerais, Minas Gerais, Brazil
2 Biologia Geral, Universidade Federal de Minas Gerais, Minas Gerais, Brazil
3 Area di Antropologia, Dipartimento di Biologia, Università di Bologna, Bologna
4 Dipartimento di Biologia, Università di Roma “Tor Vergata,” Rome
5 Department of Biochemistry, University of Oxford, Oxford, United Kingdom
Address for correspondence and reprints: Dr. Fabrício R. Santos, Departamento de Biologia Geral, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, Avenue Antônio Carlos 6627, CP 486, 31.270-010, Belo Horizonte, Minas Gerais, Brazil.Abstract
The geographic structure of Y-chromosome variability has been analyzed in native populations of South America, through use of the high-frequency Native American haplogroup defined by the DYS199-T allele and six Y-chromosome–linked microsatellites (DYS19, DYS389A, DYS389B, DYS390, DYS391, and DYS393), analyzed in 236 individuals. The following pattern of within- and among-population variability emerges from the analysis of microsatellite data: (1) the Andean populations exhibit significantly higher levels of within-population variability than do the eastern populations of South America; (2) the spatial-autocorrelation analysis suggests a significant geographic structure of Y-chromosome genetic variability in South America, although a typical evolutionary pattern could not be categorically identified; and (3) genetic-distance analyses and the analysis of molecular variance suggest greater homogeneity between Andean populations than between non-Andean ones. On the basis of these results, we propose a model for the evolution of the male lineages of South Amerindians that involves differential patterns of genetic drift and gene flow. In the western part of the continent, which is associated with the Andean area, populations have relatively large effective sizes and gene-flow levels among them, which has created a trend toward homogenization of the gene pool. On the other hand, eastern populations—settled in the Amazonian region, the central Brazilian plateau, and the Chaco region—have exhibited higher rates of genetic drift and lower levels of gene flow, with a resulting trend toward genetic differentiation. This model is consistent with the linguistic and cultural diversity of South Amerindians, the environmental heterogeneity of the continent, and the available paleoecological data.
| Y-Chromosome Evidence for Differing Ancient Demographic Histories in the Americas The American Journal of Human Genetics, Volume 73, Issue 3, 1 September 2003, Pages 524-539 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. Torres, Helena Groot, Roman Michalski, Pagbajabyn Nymadawa, Gabriel Bedoya, Neil Bradman, Damian Labuda and Andres Ruiz-Linares Abstract 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. Abstract | | |
| The Dual Origin and Siberian Affinities of Native American Y Chromosomes The American Journal of Human Genetics, Volume 70, Issue 1, 1 January 2002, Pages 192-206 Jeffrey T. Lell, Rem I. Sukernik, Yelena B. Starikovskaya, Bing Su, Li Jin, Theodore G. Schurr, Peter A. Underhill and Douglas C. Wallace Abstract The Y chromosomes of 549 individuals from Siberia and the Americas were analyzed for 12 biallelic markers, which defined 15 haplogroups. The addition of four microsatellite markers increased the number of haplotypes to 111. The major Native American founding lineage, haplogroup M3, accounted for 66% of male Y chromosomes and was defined by the biallelic markers M89, M9, M45, and M3. The founder haplotype also harbored the microsatellite alleles DYS19 (10 repeats), DYS388 (11 repeats), DYS390 (11 repeats), and DYS391 (10 repeats). In Siberia, the M3 haplogroup was confined to the Chukotka peninsula, adjacent to Alaska. The second major group of Native American Y chromosomes, haplogroup M45, accounted for about one-quarter of male lineages. M45 was subdivided by the biallelic marker M173 and by the four microsatellite loci alleles into two major subdivisions: M45a, which is found throughout the Americas, and M45b, which incorporates the M173 variant and is concentrated in North and Central America. In Siberia, M45a haplotypes, including the direct ancestor of haplogroup M3, are concentrated in Middle Siberia, whereas M45b haplotypes are found in the Lower Amur River and Sea of Okhotsk regions of eastern Siberia. Among the remaining 5% of Native American Y chromosomes is haplogroup RPS4Y-T, found in North America. In Siberia, this haplogroup, along with haplogroup M45b, is concentrated in the Lower Amur River/Sea of Okhotsk region. These data suggest that Native American male lineages were derived from two major Siberian migrations. The first migration originated in southern Middle Siberia with the founding haplotype M45a (10-11-11-10). In Beringia, this gave rise to the predominant Native American lineage, M3 (10-11-11-10), which crossed into the New World. A later migration came from the Lower Amur/Sea of Okhkotsk region, bringing haplogroup RPS4Y-T and subhaplogroup M45b, with its associated M173 variant. This migration event contributed to the modern genetic pool of the Na-Dene and Amerinds of North and Central America. Abstract | | |
| Strong Amerind/White Sex Bias and a Possible Sephardic Contribution among the Founders of a Population in Northwest Colombia The American Journal of Human Genetics, Volume 67, Issue 5, 1 November 2000, Pages 1287-1295 Luis G. Carvajal-Carmona, Iván D. Soto, Nicolás Pineda, Daniel Ortíz-Barrientos, Constanza Duque, Jorge Ospina-Duque, Mark McCarthy, Patricia Montoya, Victor M. Alvarez, Gabriel Bedoya and Andrés Ruiz-Linares Abstract Historical and genetic evidences suggest that the recently founded population of Antioquia (Colombia) is potentially useful for the genetic mapping of complex traits. This population was established in the 16th–17th centuries through the admixture of Amerinds, Europeans, and Africans and grew in relative isolation until the late 19th century. To examine the origin of the founders of Antioquia, we typed 11 markers on the nonrecombining portion of the Y chromosome and four markers on mtDNA in a sample of individuals with confirmed Antioquian ancestry. The polymorphisms on the Y chromosome (five biallelic markers and six microsatellites) allow an approximation to the origin of founder men, and those on mtDNA identify the four major founder Native American lineages. These data indicate that ∼94% of the Y chromosomes are European, 5% are African, and 1% are Amerind. Y-chromosome data are consistent with an origin of founders predominantly in southern Spain but also suggest that a fraction came from northern Iberia and that some possibly had a Sephardic origin. In stark contrast with the Y-chromosome, ∼90% of the mtDNA gene pool of Antioquia is Amerind, with the frequency of the four Amerind founder lineages being closest to Native Americans currently living in the area. These results indicate a highly asymmetric pattern of mating in early Antioquia, involving mostly immigrant men and local native women. The discordance of our data with blood-group estimates of admixture suggests that the number of founder men was larger than that of women. Abstract | | |