CHARACTERIZATION OF THE MURINE STEEL LOCUS

鼠钢轨迹的表征

• 批准号: 3046575
• 负责人: MARY A BEDELL
• 金额: $ 2.76万
• 依托单位: NATIONAL CANCER INSTITUTE-FREDERICK
• 依托单位国家: 美国
• 财政年份: 1992
• 资助国家: 美国
• 起止时间: 1992-09-14 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/3046575
• 关键词: cell growth regulation; cell type; fertility; gene expression; gene mutation; genetic mapping; germ cells; growth factor; hematopoietic stem cells; in situ hybridization; laboratory mouse; melanocyte; messenger RNA; mutant; northern blottings; protein structure function; restriction fragment length polymorphism; southern blotting

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.

拟议研究的目标是深入了解功能 最近发现的由小鼠 Steel (S1) 编码的生长因子 轨迹。 该位点存在许多半显性突变，导致 黑素细胞、生殖细胞和造血细胞缺乏 表明开发中对 S1 基因产品的要求或 这些细胞的功能。 拟议研究的目标之一是进一步 表征野生型 S1 基因座的结构和表达。 这将提供研究特定疾病所需的信息和试剂 突变小鼠中 S1 功能的各个方面。 拟议的其他目标 工作重点是 S1 基因产物在生殖细胞中的作用 发展。 一些 S1 突变体的一个特别有趣的表型是 对生育力的性别特异性影响。 分子的组合， 将使用胚胎学和遗传技术来鉴定其性质 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。 其他 该实验室的博士后研究员正在表征 S1 突变 这只影响男性的生育能力。 因为小鼠基因非常接近 与其人类同源物相关，所获得的信息可能适用 一些人类综合症和疾病。