title: Admixture and genetic diversity distribution patterns of non-recombining lineages of Native American ancestry in Colombian populations.
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.
authors.affiliation: Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal; Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP), Porto, Portugal; Institute of Legal Medicine, Innsbruck Medical University, Innsbruck, Austria.
authors.forename: Catarina
authors.initials: C
authors.lastname: Xavier
authors.affiliation: Instituto de Biología, Universidad de Antioquia, Medellín, Colombia; Laboratorio Genes Ltda, Medellín, Colombia.
authors.forename: Juan José
authors.initials: JJ
authors.lastname: Builes
authors.affiliation: Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal; Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP), Porto, Portugal.
authors.forename: Verónica
authors.initials: V
authors.lastname: Gomes
authors.affiliation: Laboratorio Genes Ltda, Medellín, Colombia.
authors.forename: Jose Miguel
authors.initials: JM
authors.lastname: Ospino
authors.affiliation: DNA Diagnostic Laboratory (LDD), State University of Rio de Janeiro (UERJ), Rio de Janeiro, Brazil.
authors.forename: Juliana
authors.initials: J
authors.lastname: Aquino
authors.affiliation: Institute of Legal Medicine, Innsbruck Medical University, Innsbruck, Austria; Eberly College of Science, Penn State University, University Park, PA, United States of America.
authors.forename: Walther
authors.initials: W
authors.lastname: Parson
authors.affiliation: Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal; Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP), Porto, Portugal; Faculdade de Ciências da Universidade do Porto, Porto, Portugal.
authors.forename: António
authors.initials: A
authors.lastname: Amorim
authors.affiliation: Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal; Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP), Porto, Portugal; DNA Diagnostic Laboratory (LDD), State University of Rio de Janeiro (UERJ), Rio de Janeiro, Brazil.
authors.forename: Leonor
authors.initials: L
authors.lastname: Gusmão
authors.affiliation: Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal; Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP), Porto, Portugal.
authors.forename: Ana
authors.initials: A
authors.lastname: Goios
mesh_terms: D041322:Chromosomes, Human, Y / Q000235:genetics; D003105:Colombia; D004272:DNA, Mitochondrial / Q000235:genetics; D005260:Female; D006239:Haplotypes; D006801:Humans; D007199:Indians, South American / Q000235:genetics*; D008297:Male; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D011995:Recombination, Genetic
chemical_list: D004272:DNA, Mitochondrial