Whittock N V, McLean W H
Epithelial Genetics Group, Human Genetics Unit, University of Dundee, Ninewells Hospital and Medical School, Dundee DD1 9SY, United Kingdom.
Biochem Biophys Res Commun. 2001 Feb 23;281(2):425-30. doi: 10.1006/bbrc.2001.4384.
CD151 is a member of the tetraspanin family that is involved in cellular processes including cell adhesion. The protein is expressed in a variety of tissues including vascular endothelium and epidermis, and has been shown to be a component of hemidesmosomes. Mutations in genes encoding other hemidesmosomal proteins give rise to a range of human disorders, characterized by fragility of the skin and/or mucous membranes. It is, therefore, plausible that inherited or acquired mutations in the gene encoding CD151 may be fundamental to the integrity and maturation of basal cell keratinocytes. To aid mutation analysis, we have characterized the intron-exon organization of the CD151 gene which comprises 8 exons spanning approximately 4.3 kb, and have developed a comprehensive PCR-based mutation detection strategy. In addition, to aid linkage analysis of CD151 in genetic disease we have fine-mapped the gene by radiation-hybrid methodology to 11p15.5, and detected a number of intragenic polymorphisms.
CD151是四跨膜蛋白家族的成员，参与包括细胞黏附在内的细胞过程。该蛋白在包括血管内皮和表皮在内的多种组织中表达，并已被证明是半桥粒的一个组成部分。编码其他半桥粒蛋白的基因突变会导致一系列人类疾病，其特征是皮肤和/或黏膜脆弱。因此，编码CD151的基因发生遗传或获得性突变可能是基底细胞角质形成细胞完整性和成熟的基础，这是有道理的。为了辅助突变分析，我们已经确定了CD151基因的内含子-外显子结构，该基因由8个外显子组成，跨度约为4.3 kb，并开发了一种基于聚合酶链反应（PCR）的综合突变检测策略。此外，为了辅助CD151在遗传疾病中的连锁分析，我们通过辐射杂种方法将该基因精细定位到11p15.5，并检测到一些基因内多态性。
