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.

Paleogenetic and taphonomic analysis of human bones from Moa, Beirada, and Zé Espinho Sambaquis, Rio de Janeiro, Brazil

“…The results of the analysis of the set of mutations observed in these two sambaquis were compared to those previously reported by Horai et al (1993); Santos et al (1996); Ribeiro-dos- Santos et al (1996); Kolman et al (1996); Smith (1996, 1997); Stone and Stoneking (1998);Lalueza-Fox et al (2001; Malhi et al (2001); Yao et al (2002); Bolnick and Smith (2003); Torres et al (2006). It was possible to classify these mutations as belonging to haplogroup C.…”

“…The three sambaqui individuals whose DNA was studied in the present paper were buried in Saquarema, RJ between 3800 to 4000 BP, belonging to the haplogroup C. This haplogroup was described for contemporaneous Amerindian populations (Torroni et al 1992, 1993a, b, Horai et al 1993, Kolman et al 1996, Lorenz & Smith 1996, Malhi et al 2001, Yao et al 2002, Bolnick & Smith 2003, Torres et al 2006) and for pre-Columbian populations of the America (Ribeiro-dos- Santos et al 1996;Stone & Stoneking 1998, Lalueza-Fox et al 2001. About 22% of the samples studied for prehistoric and contemporaneous Brazilian Indians belong to thar haplogroup.…”

Mitochondrial DNA mapping of social-biological interactions in Brazilian Amazonian African-descendant populations

“…The isolated occurrence of this Amerindian mutation in a lineage of African background might indicate recurrent mutation events, as described for Amerindian lineages by various authors (Bailliet et al, 1994;Santos et al, 1996;Torres et al, 2006). Because this lineage was of certain African origin and was the only one to exhibit a marker of a different geographic group (i.e., an Amerindian marker) we classified it as a complex haplotype.…”

Mitochondrial DNA diversity in prehispanic bone remains on the eastern Colombian Andes

“…Con el fin de elucidar la relación biológica entre los individuos precolombinos muiscas y 43 comunidades nativas americanas contemporáneas, y comparar cuatro poblaciones precolombinas antiguas (3,(19)(20)(21)(22)27,(30)(31)(32)(33)(34)(35)(36)(37)(38)(39)(40)(41)(42)(43)(44)(45)(46)(47) (cuadro 3), se calculó la frecuencia de los haplogrupos por conteo directo.…”

“…Por otro lado, algunos investigadores han observado que las poblaciones de lengua chibcha presentan altas frecuencias del haplogrupo A, lo cual puede ser resultado de un flujo génico reciente; según En estudios previos se ha observado que las poblaciones contemporáneas colombianas muestran una gran frecuencia de los haplogrupos A y C y baja frecuencia del haplogrupo D, sobre todo en las poblaciones del norte de Colombia (27,38,41,42).…”