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An Asian–Native American paternal lineage identified by RPS4Y resequencing and by microsatellite haplotyping
Author(s) -
BERGEN A. W.,
WANG C.Y.,
TSAI J.,
JEFFERSON K.,
DEY C.,
SMITH K. D.,
PARK S.C.,
TSAI S.J.,
GOLDMAN D.
Publication year - 1999
Publication title -
annals of human genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.537
H-Index - 77
eISSN - 1469-1809
pISSN - 0003-4800
DOI - 10.1046/j.1469-1809.1999.6310063.x
Subject(s) - haplotype , microsatellite , biology , genetics , locus (genetics) , y chromosome , population , evolutionary biology , allele , gene , demography , sociology
Human paternal population history was studied in 9 populations [three Native American, three Asian, two Caucasian and one African‐derived sample(s)] using sequence and short tandem repeat haplotype diversity within the non‐pseudoautosegmal region of the Y chromosome. Complete coding and additional flanking sequences (949 base pairs) of the RPS4Y locus were determined in 59 individuals from three of the populations, revealing a nucleotide diversity of 0.0147%, consistent with previous estimates from Y chromosome resequencing studies. One RPS4Y sequence variant, 711C>T, was polymorphic in Asian and Native American populations, but not in African and Caucasian population samples. The RPS4Y 711C>T variant, a second unique sequence variant at DYS287 and nine Y chromosome short tandem repeat (YSTR) loci were used to analyze the evolution of Y chromosome lineages. Three unambiguous lineages were defined in Asian, Native American and Jamaican populations using sequence variants at RPS4Y and DYS287 . These lineages were independently supported by the haplotypes defined solely by YSTR alleles, demonstrating the haplotypes constructed from YSTRs can evaluate population diversity, admixture and phylogeny.