本文關(guān)鍵詞：疾病相關(guān)基因的鑒定及其分子機理研究　出處：《中國科學院研究生院（上海生命科學研究院）》2005年碩士論文　論文類型：學位論文

  更多相關(guān)文章： 毛囊 Cub Uncv 絲氨酸蛋白酶 EGFR 信號通路

【摘要】：哺乳動物毛囊發(fā)育需要許多誘導性信號,涉及多條信號轉(zhuǎn)導通路。Uncovered 是一個自發(fā)小鼠突變模型, 表現(xiàn)為毛囊發(fā)育缺陷,該疾病基因定位于小鼠11 號染色體。我們實驗室已經(jīng)發(fā)現(xiàn)了致病基因Uncv.該研究論文對國外一個呈相似毛囊發(fā)育缺陷小鼠進行了研究,發(fā)現(xiàn)Uncv一個新突變。由于Uncv 家族其它成員具有絲氨酸蛋白酶活性,調(diào)節(jié)EGFR信號通路, 并且EGFR 信號通路的突變可以引起小鼠和人類毛囊發(fā)育缺陷, 我們推測Uncv 也可能調(diào)節(jié)EGFR 信號通路。我們首先用體外共轉(zhuǎn)染的方法檢查Uncv 編碼蛋白是否具有絲氨酸蛋白酶活性.在已知的Uncv家族其它成員共用的數(shù)個底物中, 我們沒有發(fā)現(xiàn)Uncv 具有絲氨酸蛋白酶活性, 但是,我們卻意外發(fā)現(xiàn)Uncv 家族另一個成員具有幫助ns01脫落的作用。我們又進一步研究Uncv 基因產(chǎn)物是否具有調(diào)節(jié)Uncv 家族其他成員絲氨酸蛋白酶活性, 結(jié)果也未發(fā)現(xiàn)該基因產(chǎn)物對其他該家族成員絲氨酸蛋白酶活性的調(diào)節(jié)作用.因此,我們認為該基因具有不同于該家族其他成員的功能。
[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.

【學位授予單位】：中國科學院研究生院（上海生命科學研究院）
【學位級別】：碩士
【學位授予年份】：2005
【分類號】：R346

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