Ancestral Asian Source(s) of New World Y-Chromosome Founder Haplotypes

Abstract

Haplotypes constructed from Y-chromosome markers were used to trace the origins of Native Americans. Our sample consisted of 2,198 males from 60 global populations, including 19 Native American and 15 indigenous North Asian groups. A set of 12 biallelic polymorphisms gave rise to 14 unique Y-chromosome haplotypes that were unevenly distributed among the populations. Combining multiallelic variation at two Y-linked microsatellites (DYS19 and DXYS156Y) with the unique haplotypes results in a total of 95 combination haplotypes. Contra previous findings based on Y- chromosome data, our new results suggest the possibility of more than one Native American paternal founder haplotype. We postulate that, of the nine unique haplotypes found in Native Americans, haplotypes 1C and 1F are the best candidates for major New World founder haplotypes, whereas haplotypes 1B, 1I, and 1U may either be founder haplotypes and/or have arrived in the New World via recent admixture. Two of the other four haplotypes (YAP+ haplotypes 4 and 5) are probably present because of post-Columbian admixture, whereas haplotype 1G may have originated in the New World, and the Old World source of the final New World haplotype (1D) remains unresolved. The contrasting distribution patterns of the two major candidate founder haplotypes in Asia and the New World, as well as the results of a nested cladistic analysis, suggest the possibility of more than one paternal migration from the general region of Lake Baikal to the Americas.

Maori origins, Y-chromosome haplotypes and implications for human history in the Pacific

“…This evidence stems primarily from lineages associated with the RSP4YC711T marker that has been previously observed in the Pacific [Karafet et al, 1999;Kayser et al, 2000]. Our analysis of the binary mutations associated with RSP4YC711T now allows us to evaluate more precisely the relationships between the widespread RSP4YC711T lineages across Asia, Oceania, and America Karafet et al, 1999]. Most of the Asian and Native American Y chromosomes carrying RSP4YC711T also have the M217 marker.…”

“…Our Y-chromosome haplotype results offer another perspective into Polynesian history that indicates a more diverse Melanesian component than previously revealed by mtDNA. This evidence stems primarily from lineages associated with the RSP4YC711T marker that has been previously observed in the Pacific [Karafet et al, 1999;Kayser et al, 2000]. Our analysis of the binary mutations associated with RSP4YC711T now allows us to evaluate more precisely the relationships between the widespread RSP4YC711T lineages across Asia, Oceania, and America Karafet et al, 1999].…”

“…The RPS4YC711T and M216 substitutions define a major monophyletic clade in the Y-chromosome genealogy Karafet et al, 1999;Underhill et al, 2001] that includes ht2 through ht6. Only ht3, defined by M38, was found in the Maori and Polynesian samples studied.…”

Extensive genome-wide autozygosity in the population isolates of Daghestan

“…Other than the Armenian samples, which are described here for the first time, all of the additional non-Daghestanian samples were included in previous studies. 46,47 Only SNPs located on the 22 autosomes (with centromeric regions removed) spanning a total length 2738 Mb were included in downstream analyses. We used the software PLINK1.07 13 to filter the data set by removing SNPs with 10% or more missing genotypes and SNPs with a minor allele frequency (MAF) less than 1%.…”

Human Y-chromosome variation in the Western Mediterranean area: implications for the peopling of the region

“…Analyses of Y-chromosome sequence variation have provided major insights in the analysis of human origins, evolution, and dispersals [1][2][3][4][5][6][7]. The nonrecombining region (NRPY) of the Y chromosome is uniparentally transmitted and escapes recombination.…”