Variation of Y Chromosomal Genes and Relationship to Behavior

人类与其他物种Y染色体非常染色体非伪常染色体区域基因的序列变异可以阐明Y染色体的进化和父系人类的种群历史，并有助于理解男性的表型变异。对核糖体蛋白基因RPS4Y基因座的编码区序列进行了测定，测定了4个非人类灵长类物种和来自3个人类群体的59个个体。对人科动物RPS4Y的序列分析表明，与其高度保守的同源基因RPS4X相比，RPS4Y蛋白处于松弛的功能选择之下，并预测该基因大约在原猴-猿猴分化时转座到Y染色体上。RPS4Y的序列变异在人群内部和人群之间都被检测到。RPS4Y变异体C711T似乎是Y染色体上第一个常见的编码序列多态。该基因座的人类序列(175,000+/-125,000年)的合并与从不同Y基因座和不同人口样本得出的估计值相似。这种Y染色体替换的人种学分布确定了亚洲人和美洲原住民的父系血统。Y染色体非常染色体假常染色体区域的其他基因正在评估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.