Variation of Y Chromosomal Genes and Relationship to Behavior

Y染色体基因变异及其与行为的关系

• 批准号: 6431385
• 负责人: DAVID GOLDMAN
• 金额: --
• 依托单位: NATIONAL INSTITUTE ON ALCOHOL ABUSE AND ALCOHOLISM
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/6431385
• 关键词: Asians; Native Americans; Primates; Prosimii; biochemical evolution; genetic mapping; genetic polymorphism; human population genetics; human subject; ribosomal proteins; sex chromosomes; transposon /insertion element

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.

人科动物和其他物种内部以及之间 Y 染色体非伪常染色体区域内基因的序列变异可以阐明 Y 染色体进化和父系人类群体历史，并有助于了解男性的表型变异。 RPS4Y 基因座（一种核糖体蛋白基因）的编码区序列在 4 个非人类灵长类动物和来自三个人类群体的 59 个个体中进行了测定。 对人科动物 RPS4Y 的序列分析表明，与其高度保守的同源物 RPS4X 相比，RPS4Y 蛋白处于宽松的功能选择之下，并预测该基因大约在原猿-猿分歧处转座到 Y 染色体。 在人群内部和人群之间都检测到了 RPS4Y 的序列变异。 RPS4Y 变体 C711T 似乎是 Y 染色体上第一个常见的编码序列多态性。 该基因座处的人类序列（175,000 +/- 125,000 年）的合并与根据不同 Y 基因座和不同人群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和美洲原住民的父系谱系。 Y 染色体非伪常染色体区域的其他基因正在评估其变异及其与行为的关系。