Variation of Y Chromosomal Genes and Relationship to Behavior

古人类与其他物种之间的Y染色体非假常染色体区域基因序列变异可以阐明Y染色体进化和父系人类种群历史，并有助于解释男性的表型变异。测定了4种非人灵长类动物和3个人类种群的59个个体的RPS4Y核糖体蛋白基因编码区序列。人科动物RPS4Y序列分析表明，与高度保守的同源基因RPS4X相比，RPS4Y蛋白处于宽松的功能选择状态，并预测该基因大约在原猿-类人猿分化时转位到Y染色体上。RPS4Y基因在人群内和人群间均存在序列变异。RPS4Y的一个变体C711T似乎是Y染色体上第一个常见的编码序列多态性。人类序列（175,000 +/- 125,000年）在该位点的聚结与从不同Y位点和不同人群样本中得出的估计相似。该Y染色体替换的人种学分布确定了亚洲和美洲原住民的父系祖先。正在评估Y染色体非假常染色体区域的其他基因的变异及其与行为的关系。

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 human population history and can help make sense of phenotypic variation in the male. 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 coalescent 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 and relationship to behavior.