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

TORRES, M.; BRAVI, C. M.; BORTOLINI, M.; DUQUE, C.; CALLEGARI-JACQUES, S.; ORTIZ, D.; BEDOYA, G.; RESTREPO, H. G.; RUIZ-LINARES, A.

American Journal of Human Biology

Wiley-Liss

Año: 2006 vol. 18 p. 59 - 65

1042-0533

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.