Sequence variation in genes within the non-pseudoautosomal region of the Y chromosome within and between Hominidae and other species can elucidate Y chromosome evolution and paternal population history and can help make sense of phenotypic variation in the male. A Y chromosome haplotype was associated with antisocial alcoholism in Finns. Y chromosome haplotypes indicated that the Finnish population- frequently used as a semi-isolated population in genetic studies- has a dual Northern European and Asian origin. Further, it has undergone a male-specific population bottleneck. The sequence of the coding region of the RPS4Y locus, a ribosomal protein gene, was determined in 4 non-human primate species and in 59 individuals from three human populations. Sequence analysis of RPS4Y in the Hominidae suggests that the RPS4Y protein is under relaxed functional selection compared to its highly conserved homolog, RPS4X, and predicts that the gene transposed to the Y chromosome approximately at the prosimian-simian divergence. Sequence variation at RPS4Y was detected both within and between human populations. One RPS4Y variant, C711T, appears to be the first common coding sequence polymorphism on the Y chromosome. The coalescence of human sequences (175,000 +/- 125,000 years) at this locus is similar to estimates derived from different Y loci and different human population samples. The ethnographic distribution of this Y chromosome substitution identifies a paternal lineage ancestral to Asian and Native American populations. Other genes in the non-pseudoautosomal region of the Y chromosome are being evaluated for variation, informativeness for evolutionary history of the Y chromosome and relationship to behavior.
| Kittles, R A; Long, J C; Bergen, A W et al. (1999) Cladistic association analysis of Y chromosome effects on alcohol dependence and related personality traits. Proc Natl Acad Sci U S A 96:4204-9 |
| Karafet, T M; Zegura, S L; Posukh, O et al. (1999) Ancestral Asian source(s) of new world Y-chromosome founder haplotypes. Am J Hum Genet 64:817-31 |
| Kittles, R A; Bergen, A W; Urbanek, M et al. (1999) Autosomal, mitochondrial, and Y chromosome DNA variation in Finland: evidence for a male-specific bottleneck. Am J Phys Anthropol 108:381-99 |
| Bergen, A W; Wang, C Y; Tsai, J et al. (1999) An Asian-Native American paternal lineage identified by RPS4Y resequencing and by microsatellite haplotyping. Ann Hum Genet 63:63-80 |
