Admixture and genetic diversity distribution patterns of non-recombining lineages of Native American ancestry in Colombian populations

PLoS One. 2015 Mar 16;10(3):e0120155. doi: 10.1371/journal.pone.0120155. eCollection 2015.

Abstract

Genetic diversity of present American populations results from very complex demographic events involving different types and degrees of admixture. Through the analysis of lineage markers such as mtDNA and Y chromosome it is possible to recover the original Native American haplotypes, which remained identical since the admixture events due to the absence of recombination. However, the decrease in the effective population sizes and the consequent genetic drift effects suffered by these populations during the European colonization resulted in the loss or under-representation of a substantial fraction of the Native American lineages. In this study, we aim to clarify how the diversity and distribution of uniparental lineages vary with the different demographic characteristics (size, degree of isolation) and the different levels of admixture of extant Native groups in Colombia. We present new data resulting from the analyses of mtDNA whole control region, Y chromosome SNP haplogroups and STR haplotypes, and autosomal ancestry informative insertion-deletion polymorphisms in Colombian individuals from different ethnic and linguistic groups. The results demonstrate that populations presenting a high proportion of non-Native American ancestry have preserved nevertheless a substantial diversity of Native American lineages, for both mtDNA and Y chromosome. We suggest that, by maintaining the effective population sizes high, admixture allowed for a decrease in the effects of genetic drift due to Native population size reduction and thus resulting in an effective preservation of the Native American non-recombining lineages.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosomes, Human, Y / genetics
  • Colombia
  • DNA, Mitochondrial / genetics
  • Female
  • Haplotypes
  • Humans
  • Indians, South American / genetics*
  • Male
  • Pedigree*
  • Polymorphism, Single Nucleotide*
  • Recombination, Genetic*

Substances

  • DNA, Mitochondrial

Grants and funding

Ipatimup is an Associate Laboratory of the Portuguese Ministry of Science, Technology and Higher Education, and is partially supported by FCT, the Portuguese Foundation for Science and Technology. CX, VG and AG are also supported by FCT fellowships co-financed by the European Social Fund (Human Potential Thematic Operational Programme; grants SFRH/BD/90873/2012, SFRH/BPD/76207/2011 and SFRH/BPD/43646/2008, respectively). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.