Short Report Distribution of Y-Chromosome Q Lineages in Native Americans RAFAEL BISSO-MACHADO, 1 MARILZA S. JOTA, 2 VIRGINIA RAMALLO, 1 VANESSA R. PAIXA ˜ O-CO ˆ RTES, 1 DANIELA R. LACERDA, 2 FRANCISCO M. SALZANO, 1 SANDRO L. BONATTO, 3 FABRI ´ CIO R. SANTOS, 2 AND MARIA CA ´ TIRA BORTOLINI 1 * 1 Departamento de Gene ´tica, Instituto de Biocie ˆncias, Universidade Federal do Rio Grande do Sul, Caixa Postal 15053, 91501-970 Porto Alegre, RS, Brazil 2 Departamento de Biologia Geral, ICB, Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil 3 Centro de Biologia Geno ˆmica e Celular, Pontifı´cia Universidade Cato ´lica do Rio Grande do Sul, Av. Ipiranga 6681, 90610-001 Porto Alegre, RS, Brazil Objectives: This investigation was performed to identify and evaluate the distribution of all 15 Y-chromosome line- ages belonging to the Q clade in a sample of natives from South America. Methods: One hundred and forty-eight individuals from 20 Native American populations, as well as 24 Asian sam- ples including Eskimos, were tested with 18 biallelic loci that can identify all currently known lineages of the Y-Chro- mosome Q clade. Sequencing was performed in part of the sample (180,000 nucleotides, which detected, for instance, several downstream markers related to the Q1a3a lineage). Results: No new mutation was found and Q1a3a was consistently found in high frequencies in all populations, fol- lowed at a much lower frequency by Q1a3*, while Q1a3a derived-lineages are probably population/tribe/region-specific. Conclusion: The number of basal Y chromosome lineages in North America is apparently higher than in South America due probably to a bottleneck during the South American colonization and/or more recent Circum-Arctic gene flow. Am. J. Hum. Biol. 23:563–566, 2011. ' 2011 Wiley-Liss, Inc. The presence of autochthonous Native American Y-chromosomes is well-known since the initial studies in the 1990s. The Q1a3a haplogroup, identified by a mutation at the M3 locus in the nonrecombining region of this chromosome, is present in high frequencies in Native Americans only and in very few Siberian popu- lations, probably due to reverse gene flow from Alaska to western Siberia. Several Q1a3a sublineages, however, are restricted to specific South American regions (Kar- afet et al., 2008 and references therein; Jota et al., 2011). All these lineages are derived from haplogroup Q chromosomes bearing a C ? T mutation at locus M242, today observed in natives from America and Asia (Bortolini et al., 2003; Karafet et al., 2008; Seielstad et al. 2003). Paragroup Q*, a Q chromosome lineage with no derived alleles, has been also observed at low frequencies in Turkey, India, Pakistan, Korea, Japan, and Oceania (revision in Zhong et al., 2011). Besides Q lineages, Native Americans also present a low frequency of C3b (defined by a mutation at locus P39) found only in North America (Karafet et al., 2008; Zegura et al., 2004), while the more ancient C3* was detected in northwestern South America (Wayuu, Waorani and Kichwa populations; Geppert et al., 2011; Zegura et al., 2004). The presence of other lineages has been attributed to recent admixture with non-Amerindians. The Y-Chromosome Consortium published the evolu- tionary relationships among 311 distinct paragroups/hap- logroups defined by approximately 600 markers. Within clade Q, besides Q*, 13 paragroups/haplogroups (Q1*, Q1a*, Q1a1, Q1a2, Q1a3*, Q1a3a*, Q1a3a1, Q1a3a2, Q1a3a3, Q1a4, Q1a5, Q1a6, and Q1b) identified by 17 SNPs are recognized. Most of them present geographic distributions restricted to the Americas and/or Asia (Kar- afet et al., 2008). Another Q1a3a sublineage, Q1a3a4 has been recently described (Jota et al., 2011). This investigation was performed to identify and evalu- ate the distribution of all 15 Y-chromosome lineages belonging to the Q clade in a sample of natives from South America with distinct linguistic affiliations and demo- graphic histories. We have also analyzed male samples from Eastern Russia and Siberia. SUBJECTS AND METHODS Populations One hundred and forty-eight Native American individu- als from 20 populations widely spread all over South America were tested. Additionally, 24 Asians, including Eskimos, were also investigated. Figure 1 shows the geographical locations and linguistic affiliations of these populations. Ethical approval for this study was provided by the Brazilian National Ethics Commission (no. 123/1998), as well as by ethics committees in the countries where the non-Brazilian samples were collected. Laboratory procedures DNA was extracted from plasma, glycerolized red blood cells, as well as total blood stored in our laboratories as a result of previous studies (review in Salzano, 2002) using the QIAamp DNA MiniKit. Eighteen biallelic loci were Additional Supporting Information may be found in the online version of this article. Grant sponsors: Conselho Nacional de Desenvolvimento Cientı ´fico e Tec- nolo ´gico (CNPq), Fundac ¸a ˜ o de Amparo a ` Pesquisa do Estado do Rio Grande do Sul (FAPERGS), Fundac ¸a ˜o de Amparo a ` Pesquisa de Minas Gerais (FAPEMIG), The logistic support of Fundac ¸a ˜o Nacional do I ´ ndio (FUNAI; Brazil). *Correspondence to: Maria Ca ´ tira Bortolini, Departamento de Gene ´tica, Instituto de Biocie ˆncias, Universidade Federal do Rio Grande do Sul, Caixa Postal 15053, 91501-970 Porto Alegre, RS, Brazil. E-mail: maria.bortolini@ufrgs.br Received 6 January 2011; Revision received 16 February 2011; Accepted 8 March 2011 DOI 10.1002/ajhb.21173 Published online 4 May 2011 in Wiley Online Library (wileyonlinelibrary. com). AMERICAN JOURNAL OF HUMAN BIOLOGY 23:563–566 (2011) V V C 2011 Wiley-Liss, Inc.