Evaluating the X chromosome-specific diversity of Colombian populations using insertion/deletion polymorphisms

PLoS One. 2014 Jan 31;9(1):e87202. doi: 10.1371/journal.pone.0087202. eCollection 2014.

Abstract

The European and African contribution to the pre-existing Native American background has influenced the complex genetic pool of Colombia. Because colonisation was not homogeneous in this country, current populations are, therefore, expected to have different proportions of Native American, European and African ancestral contributions. The aim of this work was to examine 11 urban admixed populations and a Native American group, called Pastos, for 32 X chromosome indel markers to expand the current knowledge concerning the genetic background of Colombia. The results revealed a highly diverse genetic background comprising all admixed populations, harbouring important X chromosome contributions from all continental source populations. In addition, Colombia is genetically sub-structured, with different proportions of European and African influxes depending on the regions. The samples from the North Pacific and Caribbean coasts have a high African ancestry, showing the highest levels of diversity. The sample from the South Andean region showed the lowest diversity and significantly higher proportion of Native American ancestry than the other samples from the North Pacific and Caribbean coasts, Central-West and Central-East Andean regions, and the Orinoquian region. The results of admixture analysis using X-chromosomal markers suggest that the high proportion of African ancestry in the North Pacific coast was primarily male driven. These men have joined to females with higher Native American and European ancestry (likely resulting from a classic colonial asymmetric mating type: European male x Amerindian female). This high proportion of male-mediated African contributions is atypical of colonial settings, suggesting that the admixture occurred during a period when African people were no longer enslaved. In the remaining regions, the African contribution was primarily female-mediated, whereas the European counterpart was primarily male driven and the Native American ancestry contribution was not gender biased.

Publication types

  • Evaluation Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Black People / ethnology
  • Black People / genetics
  • Chromosomes, Human, X / genetics*
  • Kolumbien
  • Female
  • Gene Flow
  • Gene Frequency
  • Genetic Variation*
  • Genetics, Population / methods*
  • Genotype
  • Geography
  • Humans
  • INDEL Mutation*
  • Indians, South American / ethnology
  • Indians, South American / genetics
  • Linkage Disequilibrium
  • Male
  • Models, Genetic
  • Polymorphism, Genetic*
  • Polymorphism, Single Nucleotide
  • White People / ethnology
  • White People / genetics

Grants and funding

IPATIMUP is an Associate Laboratory of the Portuguese Ministry of Science, Technology and Higher Education, partially through funding from the Portuguese Foundation for Science and Technology (FCT). RP was supported through a postdoctoral fellowship from FCT (SFRH/BPD/81986/2011). WR was supported by “Programa Sostenibilidad del Grupo Genetica Molecular 2013–2014”. The funders had no role in the study design, data collection and analysis, the decision to publish, or preparation of the manuscript.