A new subhaplogroup of native American Y-Chromosomes from the Andes

Marilza S. Jota, Daniela R. Lacerda, José R. Sandoval, Pedro Paulo R. Vieira, Simone S. Santos-Lopes, Rafael Bisso-Machado, Vanessa R. Paixão-Cortes, Susana Revollo, Cesar Paz-Y-Miño, Ricardo Fujita, Francisco M. Salzano, Sandro L. Bonatto, Maria Cátira Bortolini, Fabrício R. Santos

Research output: Contribution to journalArticlepeer-review

35 Scopus citations


The human Y chromosome contains highly informative markers for making historical inferences about the pre-Columbian peopling of Americas. However, the scarcity of these markers has limited its use in the inference of shared ancestry and past migrations relevant to the origin of the culturally and biologically diverse Native Americans. To identify new single nucleotide polymorphisms (SNPs) and increase the phylogenetic resolution of the major haplogroup Q found in the Americas, we have performed a search for new polymorphisms based on sequencing divergent Y chromosomes identified by microsatellite haplotype analysis. Using this approach, a new Y-SNP (SA01) has been identified in the Andean populations of South America, allowing for the detection of a new sublineage of Q1a3a. This sublineage displays a less complex phylogeographic network of associated microsatellites and more restricted geographic occurrence, and is given the designation Q1a3a4. This result indicates that our approach can be successfully used to identify sublineages of interest in a specific region that allow the investigation of particular histories of human populations.

Original languageEnglish
Pages (from-to)553-559
Number of pages7
JournalAmerican Journal of Physical Anthropology
Issue number4
StatePublished - Dec 2011


  • Andes
  • SNP
  • South America
  • Y chromosome


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