A revertant of the major founder Native American haplogroup C common in populations from northern South America

We examined the mtDNA RFLP diversity of 17 Native American populations from Colombia. Five of the populations studied were found to have variable frequencies of a mtDNA type lacking the characteristic changes of haplogroups A‐D. Sequencing of mtDNA HVS‐I and II showed that this “null” RFLP type carr...

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Veröffentlicht in:American journal of human biology 2006-01, Vol.18 (1), p.59-65
Hauptverfasser: Torres, Maria M., Bravi, Claudio M., Bortolini, Maria-Cátira, Duque, Constanza, Callegari-Jacques, Sidia, Ortiz, Daniel, Bedoya, Gabriel, Groot de Restrepo, Helena, Ruiz-Linares, Andrés
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container_end_page 65
container_issue 1
container_start_page 59
container_title American journal of human biology
container_volume 18
creator Torres, Maria M.
Bravi, Claudio M.
Bortolini, Maria-Cátira
Duque, Constanza
Callegari-Jacques, Sidia
Ortiz, Daniel
Bedoya, Gabriel
Groot de Restrepo, Helena
Ruiz-Linares, Andrés
description We examined the mtDNA RFLP diversity of 17 Native American populations from Colombia. Five of the populations studied were found to have variable frequencies of a mtDNA type lacking the characteristic changes of haplogroups A‐D. Sequencing of mtDNA HVS‐I and II showed that this “null” RFLP type carries all the substitutions characteristic of Native American founder lineage C. A back mutation has therefore recreated the +13,259 HincII/−13,262 AluI restriction sites that tipify RFLP haplogroup C. This revertant C lineage is further characterized by three changes in HVS‐II sequence: C/T transitions at positions 115 and 152, and the deletion of an A residue at position 116. This lineage is observed at high frequency mostly in populations from Greenberg's Equatorial–Tucano linguistic family. Genetic structure analyses are consistent with the reversion mutation occurring at an early stage during the tribalization process. Am. J. Hum. Biol. 18:59–65, 2006. © 2005 Wiley‐Liss, Inc.
doi_str_mv 10.1002/ajhb.20461
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subjects Colombia - ethnology
DNA, Mitochondrial - genetics
Founder Effect
Genetics, Population
Haplotypes - genetics
Humans
Indians, South American
Polymorphism, Restriction Fragment Length
Sequence Analysis, DNA
title A revertant of the major founder Native American haplogroup C common in populations from northern South America
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