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

• Published in: American journal of human biology 2006-01, Vol.18 (1), p.59-65
• Main Authors: 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
• Format: Article
• Language: English
• Subjects: Colombia - ethnology; DNA, Mitochondrial - genetics; Founder Effect; Genetics, Population; Haplotypes - genetics; Humans; Indians, South American; Polymorphism, Restriction Fragment Length; Sequence Analysis, DNA
• ISSN: 1042-0533; 1520-6300
• DOI: 10.1002/ajhb.20461

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.