CHARACTERIZATION OF THE MURINE STEEL LOCUS

拟议研究的目标是深入了解功能 最近发现的由鼠钢（S1）编码的生长因子 基因座 许多半显性突变存在于这个位点， 黑素细胞、生殖细胞和造血细胞缺乏 表明在开发中需要S1基因产物，或 这些细胞的功能。 拟议研究的一个目标是进一步 表征野生型S1基因座的结构和表达。 这将提供研究特定 突变小鼠中S1功能的方面。 拟议的其他目标 工作将集中在S1基因产物在生殖细胞中的作用 发展 一些S1突变体的特别有趣的表型是 对生育能力的性别特异性影响 一种分子， 胚胎学和遗传学技术将被用来鉴定 两个可行的S1等位基因的突变和发育缺陷 导致女性不育但不影响男性生育能力 另一 这个实验室的博士后正在研究一种S1突变 只影响男性的生育能力 因为老鼠的基因与 关于其人类同系物，所获得的信息可能适用于 一些人类的综合症和疾病。

The goal of the proposed research is to gain insight into the function(s) of a recently identified growth factor encoded by the murine Steel (S1) locus. Numerous semidominant mutations exist at this locus that cause deficiencies in melanocytes, germ cells and hematopoietic cells indicating a requirement for the S1 gene product in the development or function of these cells. One goal of the proposed research is to further characterize the structure and expression of the wild type S1 locus. This will provide information and reagents required to study specific aspects of S1 function (s) in mutant mice. Other goals of the proposed work will focus on the role(s) of the S1 gene product in germ cell development. A particularly interesting phenotype of some S1 mutants is a sex-specific effect on fertility. A combination of molecular, embryological and genetic techniques will be used to identify the nature of the mutation and the developmental defects in two viable S1 alleles that cause female sterility but don't affect male fertility. Another postdoctoral fellow in this laboratory is characterizing a S1 mutation that affects only male fertility. Because the mouse gene is very closely related to its human homologue, the information gained may be applicable to some human syndromes and diseases.