疾病相关基因的鉴定及其分子机理研究

发布时间：2018-01-04 01:23

本文关键词：疾病相关基因的鉴定及其分子机理研究　出处：《中国科学院研究生院（上海生命科学研究院）》2005年硕士论文　论文类型：学位论文

【摘要】：哺乳动物毛囊发育需要许多诱导性信号,涉及多条信号转导通路。Uncovered 是一个自发小鼠突变模型, 表现为毛囊发育缺陷,该疾病基因定位于小鼠11 号染色体。我们实验室已经发现了致病基因Uncv.该研究论文对国外一个呈相似毛囊发育缺陷小鼠进行了研究,发现Uncv一个新突变。由于Uncv 家族其它成员具有丝氨酸蛋白酶活性,调节EGFR信号通路, 并且EGFR 信号通路的突变可以引起小鼠和人类毛囊发育缺陷, 我们推测Uncv 也可能调节EGFR 信号通路。我们首先用体外共转染的方法检查Uncv 编码蛋白是否具有丝氨酸蛋白酶活性.在已知的Uncv家族其它成员共用的数个底物中, 我们没有发现Uncv 具有丝氨酸蛋白酶活性, 但是,我们却意外发现Uncv 家族另一个成员具有帮助ns01脱落的作用。我们又进一步研究Uncv 基因产物是否具有调节Uncv 家族其他成员丝氨酸蛋白酶活性, 结果也未发现该基因产物对其他该家族成员丝氨酸蛋白酶活性的调节作用.因此,我们认为该基因具有不同于该家族其他成员的功能。
[Abstract]:Hair follicle development in mammals requires a lot of induced signal, involving several signal transduction pathways of.Uncovered is a spontaneous mutant mice model for hair growth defect, the disease gene mapping to mouse chromosome 11. Our laboratory has discovered the pathogenic gene Uncv. in the study of hair follicle deficient mice were studied in a similar to foreign and found a new mutation of Uncv. Because the other members of Uncv family have serine protease activity and regulate EGFR signaling pathway, and mutations in EGFR signaling pathway can induce mouse and human hair growth defect, we hypothesized that Uncv may regulate EGFR signaling pathway. We first use the method to check the Uncv encoding protein co transfection with serine protease activity. In other known members of the Uncv family of a number of common substrate, we found no Uncv The serine protease activity, however, we have found another Uncv family member with the help of ns01 shedding. We further explore whether Uncv gene product can regulate the activity of other members of the Uncv family of serine protease, the results found no regulatory role on the activity of the gene product of other members of the family of serine proteases. Therefore, we this gene is different from other members of the family.

【学位授予单位】：中国科学院研究生院（上海生命科学研究院）
【学位级别】：硕士
【学位授予年份】：2005
【分类号】：R346

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