Male Lineages in South American Native Groups: Evidence of M19 Traveling South Ulises Toscanini, 1,2 Leonor Gusma˜ o, 3 Gabriela Berardi, 1 Vero´ nica Gomes, 3,2 Anto´ nio Amorim, 3,4 Antonio Salas, 2 and Eduardo Raimondi 1 * 1 PRICAI-Fundacio´n Favaloro, Buenos Aires, Argentina 2 Unidade de Xene´tica, Departamento de Anatomı´a Patolo´xica e Ciencias Forenses, Instituto de Medicina Legal, Fac- ultade de Medicina, Universidade de Santiago de Compostela, Galicia, Spain 3 IPATIMUP, Instituto de Patologia e Imunologia da Universidade do Porto, Porto, Portugal 4 Faculdade de Cieˆncias da Universidade do Porto, Porto, Portugal KEY WORDS population stratification; Amerindian; Y-SNPs haplogroups ABSTRACT With this study, we aimed to determine the different male ancestral components of two Native American communities from Argentina, namely Toba and Colla. The analysis of 27 Y-chromosome SNPs allowed us to identify seven different haplogroups in both samples. Chromosomes carrying the M3 mutation, which typically defines the Native American haplogroup Q1a3a, were seen most frequently in the Toba community (90%). Con- versely, Q1a3a was represented in 34% of the Colla Y- chromosomes, whereas haplogroup R1b1, the main repre- sentative of western European populations, exhibited the highest frequency in this population (41%). Different M3 sublineages in the Toba community could be identified by observing point mutations at both DYS385 and M19 loci. A microvariant at DYS385, named 16.1, has been charac- terized, which helps to further subdivide Q1a3a. It is the first time the M19 mutated allele is described in a popula- tion from Argentina. This finding supports the old age of the lineages carrying the M19 mutation, but it contradicts the previous hypothesis that the M19 mutated allele is confined to only two Equatorial-Tucano population groups from the north region of South America. The detection of M19 further south than previously thought allows ques- tioning of the hypothesis that this lineage serves as an example of isolation after colonization. This observation also affirms the strong genetic drift to which Native Amer- icans have been subjected. Moreover, our study illustrates a heterogeneous contribution of Europeans to these popu- lations and supports previous studies showing that most Native American groups were subjected to European admixture that primarily involved immigrant men. Am J Phys Anthropol 146:188–196, 2011. V VC 2011 Wiley-Liss, Inc. Until the arrival of the Spanish and Portuguese in the 16th century, America had been inhabited exclusively by Amerindians, who may have reached the continent 18–14,000 years ago (Achilli et al., 2008; Perego et al., 2010). There is some debate concerning the presence of the first people in contemporary Argentina, which can be influenced by the different colonization hypothesis regarding South America (Rothhammer and Dillehay, 2009). In the past, the original cultures that occupied present-day Argentina settled in one of four regions: ‘‘Montan˜ a,’’ ‘‘Llanura,’’ ‘‘Mesopotamia,’’ and ‘‘Extremo Sur’’ (Fig. 1) (Martinez-Sarasola, 2005). The ‘‘Montan˜ a’’ extends over the current provinces of northwest Argen- tina, the ‘‘Cuyo’’ region, and part of Co´rdoba and San- tiago del Estero provinces. The landscape is varied throughout, with the most extreme, hostile conditions in ‘‘La Puna,’’ which is the most occidental area and is located at more than 4,000 m above sea level. The ‘‘Montan˜ a’’ also accommodates the valleys and ravines, like ‘‘Quebrada de Humahuaca’’ (where the ‘‘Omaguaca’’ people settled) and the ‘‘Calchaquı ´ Valley, where the Dia- guita cultures (also known as Calchaquı ´ people) lived. The original cultures of the ‘‘Montan˜ a’’ do not exist anymore; they were replaced by the ‘‘Colla,’’ or ‘‘Kolla,’’ which emerged as a result of the first contact with ‘‘His- panic’’ conquerors (Martinez-Sarasola, 2005). Three subregions comprise the ‘‘Llanura’’ (the name denotes a flat region) (Fig. 1): the ‘‘Chaco’’, the ‘‘Pampa,’’ and the ‘‘Patagonia.’’ The ‘‘Chaco’’ extends from Rı ´o Sal- ado at the south, the central part of Santa Fe and San- tiago del Estero provinces, to the northern-most part of the country. The Wichi, Nivakle´, Pilaga´, and Toba were the major population groups among the original people that populated the Chaco region. By the 16th century, the Wichi had undergone a notable expansion, forcing the Toba and other groups to move to the center area of the Chaco, where they were finally confined after the conquest. It is in this region where most of these com- munities reside today. Other tribes also inhabited the ‘‘Llanura,’’ such as: the Tehuelches (in the Pampa and Patagonia subregions), Pehuenches (in the Patagonia Additional Supporting Information may be found in the online version of this article. Grant sponsor: FCT (PhD Grant); Grant number: SFRH/BD/ 36045/2007. Grant sponsor: Ministerio de Ciencia e Innovacio´n; Grant number: SAF2008-02971. Grant sponsor: Fundacio´n de Inves- tigacio´n Me´dica Mutua Madrilen˜ a; Grant number: 2008/CL444. *Correspondence to: Eduardo Raimondi, PRICAI-Fundacio´n Fava- loro, Av. Belgrano 1782 4 Piso, 1093-C. Auto´noma de Buenos Aires, Argentina. E-mail: eraimondi@pricai.com.ar Received 19 January 2011; accepted 29 April 2011 DOI 10.1002/ajpa.21562 Published online 8 August 2011 in Wiley Online Library (wileyonlinelibrary.com). V VC 2011 WILEY-LISS, INC. AMERICAN JOURNAL OF PHYSICAL ANTHROPOLOGY 146:188–196 (2011)