Fax +41 61 306 12 34 E-Mail karger@karger.ch www.karger.com Original Paper Hum Hered 2007;64:160–171 DOI: 10.1159/000102989 Pre- and Post-Columbian Gene and Cultural Continuity: The Case of the Gaucho from Southern Brazil Andrea Rita Marrero a Claudio Bravi b Steven Stuart c1 Jeffrey C. Long d Fábio Pereira das Neves Leite a, e Trícia Kommers e Claudia M.B. Carvalho f Sergio Danilo Junho Pena f Andres Ruiz-Linares c Francisco Mauro Salzano a Maria Cátira Bortolini a a Departamento de Genética, Instituto de Biociências, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil; b Laboratorio de Genética Molecular Poblacional, Instituto Multidisciplinario de Biología Celular (IMBICE), La Plata, Argentina; c The Galton Laboratory, University College, London, UK; d Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Mich., USA; e Instituto Geral de Perícias, Porto Alegre, RS, and f Departamento de Bioquímica e Imunologia, Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil Spanish influence than that observed elsewhere in Brazil, a former Portuguese colony. Extensive mtDNA analyses of their Amerindian component gave clear indications of the presence there of material from extinct (Charrua), as well as extant (Guarani) tribes. Conclusions: The genetic analyses contributed in a significant way to reveal that the known cul- tural continuity between pre- and post-Columbian Pampa populations was also accompanied by an extraordinary ge- netic continuity. Copyright © 2007 S. Karger AG, Basel Introduction The traditional historical inhabitants of the Pampa re- gion (which corresponds to parts of Argentina, Uruguay and southern Brazil) are called Gauchos, and were formed through intermarriages between the European coloniz- ers and Amerindians and Africans, the latter brought to the region as slaves. At the time of first Europeans ar- rival there, the Pampa was inhabited by nomadic hunter- Key Words Y-chromosome SNPs/STRs  mtDNA HVS-I  genetic continuity Abstract Objective: To investigate the evolutionary and demograph- ic history of the Gaucho , a distinct population of southern Brazil, relating it to their culture, to assess possible parallel continuity. Methods: Six binary polymorphisms, an Alu in- sertion polymorphism (YAP) and 12 short tandem repeat loci in the non-recombining region of the Y-chromosome, as well as the sequence of the first hypervariable segment (HVS-I) of the mitochondrial DNA (mtDNA) control region were studied in 150 unrelated males born in the Pampa re- gion of Rio Grande do Sul. Results: Comparison of the results with the other Brazilian and Uruguayan populations, as well as with their putative ancestors, indicated a stronger male Received: January 2, 2007 Accepted after revision: March 1, 2007 Published online: May 25, 2007 Maria Cátira Bortolini Departamento de Genética, Instituto de Biociências Universidade Federal do Rio Grande do Sul, Caixa Postal 15053 91501-970 Porto Alegre, RS (Brazil) Tel. +55 51 3316 6719, Fax +55 51 3316 9844, E-Mail maria.bortolini@ufrgs.br © 2007 S. Karger AG, Basel 0001–5652/07/0643–0160$23.50/0 Accessible online at: www.karger.com/hhe 1 In memoriam.