title: Revealing latitudinal patterns of mitochondrial DNA diversity in Chileans.
abstract: The territory of Chile is particularly long and narrow, which combined with its mountainous terrain, makes it a unique scenario for human genetic studies. We obtained 995 control region mitochondrial DNA (mtDNA) sequences from Chileans representing populations living at different latitudes of the country from the North to the southernmost region. The majority of the mtDNA profiles are of Native American origin (∼88%). The remaining haplotypes are mostly of recent European origin (∼11%), and only a minor proportion is of recent African ancestry (∼1%). While these proportions are relatively uniform across the country, more structured patterns of diversity emerge when examining the variation from a phylogeographic perspective. For instance, haplogroup A2 reaches ∼9% in the North, and its frequency decreases gradually to ∼1% in the southernmost populations, while the frequency of haplogroup D (sub-haplogroups D1 and D4) follows the opposite pattern: 36% in the southernmost region, gradually decreasing to 21% in the North. Furthermore, there are remarkable signatures of founder effects in specific sub-clades of Native American (e.g. haplogroups D1j and D4p) and European (e.g. haplogroups T2b3 and K1a4a1a+195) ancestry. We conclude that the magnitude of the latitudinal differences observed in the patterns of mtDNA variation might be relevant in forensic casework.
authors.affiliation: Unidade de Xenética, Departamento de Anatomía Patolóxica e Ciencias Forenses, Instituto de Ciencias Forenses, Grupo de Medicina Xenómica (GMX), Facultade de Medicina, Universidade de Santiago de Compostela, 15872 Galicia, Spain; Grupo de Investigación en Genética, Vacunas, Infecciones y Pediatría (GENVIP), Instituto de Investigación Sanitaria de Santiago and Universidade de Santiago de Compostela (USC), Galicia, Spain.
authors.forename: Alberto
authors.initials: A
authors.lastname: Gómez-Carballa
authors.affiliation: Servicio Médico Legal, Ministerio de Justicia, Santiago, Chile.
authors.forename: Fabián
authors.initials: F
authors.lastname: Moreno
authors.affiliation: Unidade de Xenética, Departamento de Anatomía Patolóxica e Ciencias Forenses, Instituto de Ciencias Forenses, Grupo de Medicina Xenómica (GMX), Facultade de Medicina, Universidade de Santiago de Compostela, 15872 Galicia, Spain.
authors.forename: Vanesa
authors.initials: V
authors.lastname: Álvarez-Iglesias
authors.affiliation: Grupo de Investigación en Genética, Vacunas, Infecciones y Pediatría (GENVIP), Instituto de Investigación Sanitaria de Santiago and Universidade de Santiago de Compostela (USC), Galicia, Spain; Translational Pediatrics and Infectious Diseases Section, Department of Pediatrics, Hospital Clínico Universitario de Santiago, Santiago de Compostela, Galicia, Spain.
authors.forename: Federico
authors.initials: F
authors.lastname: Martinón-Torres
authors.affiliation: Unidade de Xenética, Departamento de Anatomía Patolóxica e Ciencias Forenses, Instituto de Ciencias Forenses, Grupo de Medicina Xenómica (GMX), Facultade de Medicina, Universidade de Santiago de Compostela, 15872 Galicia, Spain.
authors.forename: Manuel
authors.initials: M
authors.lastname: García-Magariños
authors.affiliation: Servicio Médico Legal, Ministerio de Justicia, Santiago, Chile.
authors.forename: Jaime A
authors.initials: JA
authors.lastname: Pantoja-Astudillo
authors.affiliation: Servicio Médico Legal, Ministerio de Justicia, Santiago, Chile.
authors.forename: Eugenia
authors.initials: E
authors.lastname: Aguirre-Morales
authors.affiliation: Servicio Médico Legal, Ministerio de Justicia, Santiago, Chile.
authors.forename: Patricio
authors.initials: P
authors.lastname: Bustos
authors.affiliation: Unidade de Xenética, Departamento de Anatomía Patolóxica e Ciencias Forenses, Instituto de Ciencias Forenses, Grupo de Medicina Xenómica (GMX), Facultade de Medicina, Universidade de Santiago de Compostela, 15872 Galicia, Spain; Grupo de Investigación en Genética, Vacunas, Infecciones y Pediatría (GENVIP), Instituto de Investigación Sanitaria de Santiago and Universidade de Santiago de Compostela (USC), Galicia, Spain. Electronic address: antonio.salas@usc.es.
authors.forename: Antonio
authors.initials: A
authors.lastname: Salas
mesh_terms: D002677:Chile; D004272:DNA, Mitochondrial / Q000032:analysis / Q000235:genetics*; D005006:Ethnicity / Q000235:genetics; D018703:Founder Effect; D014644:Genetic Variation; D005828:Genetics, Population; D006239:Haplotypes; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats; D010802:Phylogeny; D058974:Phylogeography; D017422:Sequence Analysis, DNA
chemical_list: D004272:DNA, Mitochondrial
keywords: Chile; Haplogroup; Haplotypes; Mitochondrial DNA; Phylogeography; Population sub-structure