A Revertant of the Major Founder Native American HaplogroupC Common in Populations From Northern South America

ABSTRACT: 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’’ RF...

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Autores:: Torres Carvajal, María de la Merced
Bravi, Claudio Marcelo
Bortolini‬, ‪María Cátira
Duque Vélez, Constanza Elena
Callegari Jacques, Sidia Maria
Ortíz Barrientos, Daniel
Bedoya Berrío, Gabriel de Jesús
Groot de Restrepo, Helena
Ruíz Linares, Andrés

Tipo de recurso:: Article of investigation

Fecha de publicación:: 2006

Institución:: Universidad de Antioquia

Repositorio:: Repositorio UdeA

Idioma:: eng

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Summary:	ABSTRACT: 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 theþ13,259HincII/ 13,262AluI restriction sites that typify 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.

A Revertant of the Major Founder Native American HaplogroupC Common in Populations From Northern South America

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