论文部分内容阅读
家族性结肠腺瘤息肉病是由结肠腺瘤息肉蛋白(APC)突变引起的一种常染色体显性遗传病,而其中一些表现突出的肠外症状,例如纤维瘤、骨瘤、大脑畸形、视网膜色素上皮肥大等与纤毛相关疾病有相同的临床症状,暗示APC突变与纤毛之间存在微妙的关系。APC的N端片段(APC-N)是APC中非常保守的一个片段,在多数发生APC突变的个体中都保留有该片段,本文主要研究APC-N的过表达对MDCK细胞纤毛生长的影响。实验结果显示,将质粒pEGFP-C3-APC-N转染到MDCK细胞中,APC-N主要定位于MDCK细胞的细胞质中。免疫荧光染色表明,APC-N的过表达明显抑制MDCK纤毛的生长。这些结果揭示,APC突变可能通过影响细胞纤毛的生长进而导致纤毛相关性疾病。
Familial adenomatous polyposis is an autosomal dominant disease caused by mutations in the polyadenocarcinoma of the colon adenocarcinoma, some of which manifest prominent extranodal symptoms such as fibroids, osteomas, brain deformities, the retina Pigmented epithelial hypertrophy and other cilia-related diseases have the same clinical symptoms, suggesting a subtle relationship between APC mutations and cilia. The APC N-terminal fragment (APC-N) is a very conserved fragment of APC. This fragment is retained in most individuals with APC mutations. This paper mainly studied the effect of APC-N overexpression on ciliary growth in MDCK cells. The results showed that the plasmid pEGFP-C3-APC-N transfected into MDCK cells, APC-N mainly located in the cytoplasm of MDCK cells. Immunofluorescence staining showed that overexpression of APC-N significantly inhibited the growth of MDCK cilia. These results reveal that APC mutations may lead to cilia-related diseases by affecting the growth of ciliated cells.