The population genetics of quechuas, the largest native south american group: Autosomal sequences, SNPs, and microsatellites evidence high level of diversity

Authors

  • Marilia O. Scliar,

    1. Departamento de Biologia Geral, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais. Av. Antonio Carlos 6627, Pampulha. Caixa Postal 486, Belo Horizonte, Minas Gerais, CEP 31270-910, Brazil
    Search for more papers by this author
    • These authors contributed equally to this work.

  • Giordano B. Soares-Souza,

    1. Departamento de Biologia Geral, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais. Av. Antonio Carlos 6627, Pampulha. Caixa Postal 486, Belo Horizonte, Minas Gerais, CEP 31270-910, Brazil
    Search for more papers by this author
    • These authors contributed equally to this work.

  • Juliana Chevitarese,

    1. Departamento de Biologia Geral, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais. Av. Antonio Carlos 6627, Pampulha. Caixa Postal 486, Belo Horizonte, Minas Gerais, CEP 31270-910, Brazil
    Search for more papers by this author
  • Livia Lemos,

    1. Departamento de Biologia Geral, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais. Av. Antonio Carlos 6627, Pampulha. Caixa Postal 486, Belo Horizonte, Minas Gerais, CEP 31270-910, Brazil
    Search for more papers by this author
  • Wagner C.S. Magalhães,

    1. Departamento de Biologia Geral, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais. Av. Antonio Carlos 6627, Pampulha. Caixa Postal 486, Belo Horizonte, Minas Gerais, CEP 31270-910, Brazil
    Search for more papers by this author
  • Nelson J. Fagundes,

    1. Departamento de Genética, Instituto de Biociências, Universidade Federal do Rio Grande do Sul, Caixa Postal 15053, Porto Alegre, Rio Grande do Sul, CEP 91501-970, Brazil
    Search for more papers by this author
  • Sandro L. Bonatto,

    1. Faculdade de Biociências, Pontifícia Universidade Católica do Rio Grande do Sul, Av. Ipiranga 6681, Caixa Postal 1429, Porto Alegre, Rio Grande do Sul, CEP 90619-900, Brazil
    Search for more papers by this author
  • Meredith Yeager,

    1. Intramural Research Support Program, SAIC Frederick, NCI-FCRDC, Frederick, MD 21702
    2. Core Genotype Facility, NCI, NIH, Gaithersburg, MD
    Search for more papers by this author
  • Stephen J. Chanock,

    1. Laboratory of Translational Genomics of the Division of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health (NIH), Gaithersburg, MD 20877
    Search for more papers by this author
  • Eduardo Tarazona-Santos

    Corresponding author
    1. Departamento de Biologia Geral, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais. Av. Antonio Carlos 6627, Pampulha. Caixa Postal 486, Belo Horizonte, Minas Gerais, CEP 31270-910, Brazil
    • Departamento de Biologia Geral, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais. Av. Antonio Carlos 6627, Pampulha. Caixa Postal 486, Belo Horizonte, MG, CEP 31270-910, Brazil
    Search for more papers by this author

Abstract

Elucidating the pattern of genetic diversity for non-European populations is necessary to make the benefits of human genetics research available to individuals from these groups. In the era of large human genomic initiatives, Native American populations have been neglected, in particular, the Quechua, the largest South Amerindian group settled along the Andes. We characterized the genetic diversity of a Quechua population in a global setting, using autosomal noncoding sequences (nine unlinked loci for a total of 16 kb), 351 unlinked SNPs and 678 microsatellites and tested predictions of the model of the evolution of Native Americans proposed by (Tarazona-Santos et al.: Am J Hum Genet 68 (2001) 1485–1496). European admixture is <5% and African ancestry is barely detectable in the studied population. The largest genetic distances were between African versus Quechua or Melanesian populations, which is concordant with the African origin of modern humans and the fact that South America was the last part of the world to be peopled. The diversity in the Quechua population is comparable with that of Eurasian populations, and the allele frequency spectrum based on resequencing data does not reflect a reduction in the proportion of rare alleles. Thus, the Quechua population is a large reservoir of common and rare genetic variants of South Amerindians. These results are consistent with and complement our evolutionary model of South Amerindians (Tarazona-Santos et al.: Am J Hum Genet 68 (2001) 1485–1496), proposed based on Y-chromosome data, which predicts high genomic diversity due to the high level of gene flow between Andean populations and their long-term effective population size. Am J Phys Anthropol 2012. © 2012 Wiley Periodicals, Inc.

Ancillary