HUMAN SEX CHROMOSOMES AND GONADAL SEX DETERMINATION

该项目的主要长期目标是确定 人类Y染色体上的男性决定基因，以及对这些基因的分析。 基因或基因复合物结构和功能。 如果这条线 调查导致了一个假定雄性决定基因的鉴定， 基因或其小鼠同源物将被引入小鼠胚胎中，以测试其 诱导睾丸分化的能力。 这些研究可能导致 用于研究异常性发育的高度定义的小鼠模型。 寻找这种决定雄性的基因需要在 人类性逆转突变体的性染色体的DNA水平（例如，XX 男性和Xy女性）。 这些性别的染色体基础 因此将阐明逆转/不育综合征。 人类X和Y染色体之间的DNA序列同源性区域将 接受检查。 特别是， Y的短臂和Y的长臂之间的实质性同源性 X将被探索。

The principal long-term goal of this project is identification of the male-determining gene(s) on the human Y chromosome, and analysis of the structure and function of that gene or gene complex. Should this line of inquiry lead to identification of a putative male-determining gene, that gene or its mouse homolog will be introduced into mouse embryos to test its ability to induce testicular differentiation. These studies may result in a highly defined mouse model for the study of abnormal sexual development. The search for this male-determining gene will entail detailed study at the DNA level of the sex chromosomes of human sex reversal mutants (e.g., XX males and Xy females). The chromosomal basis of these sex reversal/infertility syndromes will thereby be elucidated. Regions of DNA sequence homology between the human X and Y chromosomes will be examined. In particular, the nature and evolutionary origin of substantial homologies between the short arm of the Y and the long arm of the X will be explored.