Demographic and Evolutionary Trajectories of the Guarani and Kaingang Natives of Brazil Andrea R. Marrero, 1 Wilson A. Silva-Junior, 2 Cla ´ udio M. Bravi, 3 Mara H. Hutz, 1 Maria L. Petzl-Erler, 4 Andres Ruiz-Linares, 5 Francisco M. Salzano, 1 and Maria C. Bortolini 1 * 1 Departamento de Gene ´tica, Instituto de Biocie ˆncias, Universidade Federal do Rio Grande do Sul, 91501-970 Porto Alegre, Rio Grande do Sul, Brazil 2 Departamento de Gene ´tica e Centro de Terapia Celular, Universidade de Sa ˜ o Paulo, 14049-900 Ribeira ˜ o Preto, Sa ˜ o Paulo, Brazil 3 Laboratorio de Gene ´tica Molecular Poblacional, Instituto Multidisciplinario de Biologı´a Celular (IMBICE), La Plata, Argentina 4 Departamento de Gene ´tica, Universidade Federal do Parana ´ , 81531-990 Curitiba, Parana ´ , Brazil 5 The Galton Laboratory, University College, London, UK KEY WORDS mtDNA; Y-chromosome markers; Amerindians; asymmetrical interethnic matings ABSTRACT A total of 278 individuals from two Brazil- ian Indian tribes (Guarani and Kaingang) living in five dif- ferent localities had their mitochondrial DNA sequenced for the first hypervariable segment (HVS-I), and a fraction of them was also studied for seven biallelic Y-chromosome polymorphisms. Nineteen HVS-I lineages were detected, which showed distinct distributions in the two tribes. The G ST value obtained with the mtDNA data is about 5 times higher for the Guarani as compared to the Kaingang, sug- gesting a higher level of differentiation between the three Guarani partialities than between the two Kaingang villages. Non-Amerindian admixture varied with sex and in the Guarani was only observed through the paternal line. Using these data and those of other Tupian and Je ˆan tribes, it was possible to make inferences about past migratory movements and the genetic differentiation of these populations. Am J Phys Anthropol 132:301–310, 2007. V V C 2006 Wiley-Liss, Inc. Genetic studies have been used as powerful tools to characterize Native American populations. Schurr and Sherry (2004) showed that the mitochondrial DNA (mtDNA) and the nonrecombining portion of the Y-chro- mosome (NRY) are at present the two genetic systems most commonly used in studies with these population groups. Investigations using mtDNA in Amerindians revealed the presence of five different haplogroups, desig- nated A–D (Schurr et al., 1990; Torroni et al., 1992, 1993) and X (Brown et al., 1998), and the highest level of differ- entiation between populations considering the human major geographical groups (Bortolini and Salzano, 1996; Bortolini et al., 1997). These and other studies have also shown distinct haplogroup distributions in South America: Haplogroup A generally occurs at higher frequencies in northern regions, while haplogroups C and D are frequent in several parts of South America. Haplogroup B is only abundant in southern Peru, Andean Bolivia, northern Chile, and Argentina. Haplogroup X is not found in South America (Dornelles et al., 2005). Initial analyses with NRY markers, on the other hand, found just one haplotype at high frequencies in native populations in North and South America of all linguistic groups (Pena et al., 1995). This most common Y-chromo- some was afterward characterized by a C ? T mutation at marker M3 (Underhill et al., 1996), which defines hap- logroup Q3* (The Y Chromosome Consortium, 2002; Jobling and Tyler-Smith, 2003). More recently, other Asian or Native American autochthonous haplogroups have been identified (C*, Q*, Q3a), but with different dis- tributions among populations. For example, C* (which is present in high frequencies in Asia) is only found in North, and Q3a in South America (Bortolini et al., 2003). Using microsatellite loci, Tarazona-Santos et al. (2001) showed that the Andean Native populations exhibit signif- icantly higher within-population variability than the east- ern groups (Amazonian region, Brazilian plateau, and the Chaco region). These authors proposed a model for the evolution of the South Amerindian male lineages that involved differential patterns of genetic drift and gene flow. The origin of the Tupian linguistic family is controver- sial (Noelli, 1998; Rodrigues, 2000). However, most of the authors report regions at the southern margin of the Amazon River (Rodrigues, 1964; Migliazza, 1982; Urban, 1996, 1998; Heckenberger et al., 1998). For example, Migliazza (1982) suggested that the probable place of ori- gin of the Tupian linguistic family was situated between the Jiparana ´ and Aripuana ˜ rivers, and that the postu- lated parental group was living there about 5,000 years Grant sponsors: Institutos do Mile ˆ nio; Programa de Apoio a Nu ´ cleos de Excele ˆncia; Conselho Nacional de Desenvolvimento Cientı ´fico e Tecnolo ´gico; Fundac ¸a ˜o de Amparo a ` Pesquisa do Estado do Rio Grande do Sul; Academia Brasileira de Cie ˆncias; The Royal Society. *Correspondence to: Maria C. Bortolini, Departamento de Gene ´tica, Instituto de Biocie ˆncias, Universidade Federal do Rio Grande do Sul, Caixa Postal 15053, 91501-970 Porto Alegre, Rio Grande do Sul, Brazil. E-mail: maria.bortolini@ufrgs.br Received 14 February 2006; accepted 8 August 2006 DOI 10.1002/ajpa.20515 Published online 28 November 2006 in Wiley InterScience (www.interscience.wiley.com). V V C 2006 WILEY-LISS, INC. AMERICAN JOURNAL OF PHYSICAL ANTHROPOLOGY 132:301–310 (2007)