Population genetics of Y-chromosome short tandem repeats in humans.
Eight human short tandem repeat polymorphisms (STRs) also known as microsatellites-DYS19, DYS388, DYS390, DYS391, DYS392, DYS393, DYS389I, and DYS389II, mapping in the Y chromosome-were analyzed in two Iberian samples (Basques and Catalans). Allele frequency distributions showed significant differences only for DYS392. Fst and gene diversity index (D) were estimated for the Y STRs. The values obtained are comparable to those of autosomal STR if corrections for the smaller effective population size on the Y chromosome are taken into account. This suggests that Y-chromosome microsatellites might be as useful as their autosomal counterparts to both human population genetics and forensics. Our results also reinforce the hypothesis that selective sweeps in the Y chromosome in recent times are unlikely. Haplotypes combining five of the loci were constructed for 71 individuals, showing 29 different haplotypes. A haplotype tree was constructed, from which an estimate of 7,000 to 60,000 years for the age of the Y-chromosome variation in Iberia was derived, in accordance with previous estimates obtained with mtDNA sequences and nuclear markers.
Pérez-Lezaun
A
A
Laboratori d'Antropologia, Facultat de Biologia, Universitat de Barcelona, Barcelona, Diagonal 645, 08028 Barcelona, Spain.
Calafell
F
F
Seielstad
M
M
Mateu
E
E
Comas
D
D
Bosch
E
E
Bertranpetit
J
J
D000818:Animals; D005260:Female; D005819:Genetic Markers; D014644:Genetic Variation; D005828:Genetics, Population; D006239:Haplotypes; D006801:Humans; D010802:Phylogeny; D012091:Repetitive Sequences, Nucleic Acid; D013030:Spain / Q000208:ethnology; D014998:Y Chromosome
D005819:Genetic Markers