title: A revertant of the major founder Native American haplogroup C 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" 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.
authors.affiliation: Laboratorio de Genética Humana, Universidad de los Andes, Bogotá, Colombia.
authors.forename: Maria M
authors.initials: MM
authors.lastname: Torres
authors.forename: Claudio M
authors.initials: CM
authors.lastname: Bravi
authors.forename: Maria-Cátira
authors.initials: MC
authors.lastname: Bortolini
authors.forename: Constanza
authors.initials: C
authors.lastname: Duque
authors.forename: Sidia
authors.initials: S
authors.lastname: Callegari-Jacques
authors.forename: Daniel
authors.initials: D
authors.lastname: Ortiz
authors.forename: Gabriel
authors.initials: G
authors.lastname: Bedoya
authors.forename: Helena
authors.initials: H
authors.lastname: Groot de Restrepo
authors.forename: Andrés
authors.initials: A
authors.lastname: Ruiz-Linares
mesh_terms: D003105:Colombia / Q000208:ethnology; D004272:DNA, Mitochondrial / Q000235:genetics*; D018703:Founder Effect; D005828:Genetics, Population; D006239:Haplotypes / Q000235:genetics*; D006801:Humans; D007199:Indians, South American; D012150:Polymorphism, Restriction Fragment Length; D017422:Sequence Analysis, DNA
chemical_list: D004272:DNA, Mitochondrial