Pre-Columbian male ancestros for the American Continent, molecular Y- chromosome insight

BAILLIET G; MUZZIO M; RAMALLO V; JURADO MEDINA LS; ALFARO GOMEZ EL; DIPIERRI JE; BRAVI CM

Genetics Diversity

InTech

Lugar: Rijeka; Año: 2012; p. 291 - 308

The study of SNP polymorphisms in the specific region of Y- Chromosome resulted in the construction of a consistent phylogeny and nomenclature (YCC 2002, Karafet et al., 2008). This phylogeny spanned in a tree of 20 mayor clades, representing haplogrups, the accumulation of polymorphisms along the different lineages have determined their diversification, and the configuration of sub-branches. The phylogeny seems to have a geographic distribution that mimics routes of dispersion of human populations. America was one of the latest continents to be populated, there is not doubt that the main source of colonization was Siberia, during this processes it was assumed that strong bottle necks have been happened, and multidisciplinary evidences supports this hypothesis. The period of time when this happened, and how many population waves occurred are still under debate. All present evidence about Y-chromosome of human population of American continent indicate that Native American lineages were restricted to the two Y-chromosome haplogroups C and Q. C haplogroup defined by RPS4Y and M216, have been described in Asia, Australo-Melanesia and North America (Bergen et al. 1999; Karafet et al., 1999, Capelli et al. 2001; Hammer et al. 2001;), lineages that acquired M217 spread through central and eastern Asia and North America (Karafet et al., 1999; Zegura et al. 2004). North American C haplogroup was characterized by the derived alleles for RPS4Y, M217 and P39 corresponding to sub-haplogroup C3b, two samples from Wayu were the first South American C lineages identified (Zegura et al., 2004). Recently, new evidence of presence C3 in South American was found in three Waorani and one Kichwa individuals, in this occasion P39 was absent (Geppert et al. 2011). Q haplogroup was defined by M242 mutation (Seielstad et al., 2003), it is currently present in Eurasia, with lower frequencies than 17% (5% average) for Asian populations (Seielstad et al., 2003), and 18.8% for Siberia (Karafet et al., 2002). In North America they were up to 47% (13.9% average) (Zegura et al., 2004; Bolnick et al., 2006), but it is poorly represented in most South American populations (