Characterization of Ancestral and Derived Y-Chromosome Haplotypes of New World Native Populations

Abstract

We analyze the allelic polymorphisms in seven Y-specific microsatellite loci and a Y-specific alphoid system with 27 variants (ah I-XXVII), in a total of 89 Y chromosomes carrying the DYS199T allele and belonging to populations representing Amerindian and Na-Dene linguistic groups. Since there are no indications of recurrence for the DYS199CrT transition, it is assumed that all DYS199T haplotypes derive from a single individual in whom the CrT mutation occurred for the first time. We identified both the ancestral founder haplotype, 0A, of the DYS199T lineage and seven derived haplogroups diverging from the ancestral one by one to seven mutational steps. The 0A haplotype (5.7% of Native American chromosomes) had the following constitution: DYS199T, ah II, DYS19/13, DYS389a/10, DYS389b/ 27, DYS390/24, DYS391/10, DYS392/14, and DYS393/13 (microsatellite alleles are indicated as number of repeats). We analyzed the Y-specific microsatellite mutation rate in 1,743 father-son transmissions, and we pooled our data with data in the literature, to obtain an average mutation rate of .0012. We estimated that the 0A haplotype has an average age of 22,770 years (minimum 13,500 years, maximum 58,700 years). Since the DYS199T allele is found with high frequency in Native American chromosomes, we propose that 0A is one of the most prevalent founder paternal lineages of New World aborigines.

Molecular variability in Amerindians: widespread but uneven information

“…As for their origin, suggested the central Siberian region as their possible parental land. Bianchi et al (1998) derived what they considered to be the ancestral founder haplotype, and dated its age as being of 22,770 years, in good agreement with mtDNA estimates. Carvalho-Silva et al (1999), on the other hand, examined the low variability of the DYS19 microsatellite, as compared to those of five other tetranucleotide repeat loci.…”

Analysis of mutations in father–son pairs with 17 Y-STR loci

“…Y-chromosome short tandem repeats (Y-STRs) have proven beneficial in a number of fields and applications including paternity, anthropology and genealogy studies [1][2][3]. An increasing number of forensic DNA laboratories are adopting Y-STR analyses into their routine casework, especially since the release of commercially available kits.…”

Languages, geography and HLA haplotypes in Native American and Asian populations

“…A recent mtDNA study in a prehistoric Native America population also suggested a single wave of migration with considerable mtDNA diversity which bears signals of a population expansion 23 000^37 000 years ago (Stone & Stoneking 1998). An analysis of the genetic variation in the Y chromosome in Amerindian and Na-Dene populations placed the age of the ancestral founder haplotype at 22 770 years (minimum 13 500 years and maximum 58 700 years) (Bianchi et al 1998). The ¢nding of this haplotype in high frequencies in Amerindian, Na-Dene and Eskimo-Aluet linguistic groups seems to favour the hypothesis of a common origin for all Native Americans based on studies of classic genetic markers (Szathmary 1984).…”