Pucharcos C, Casas C, Nadal M, Estivill X, de la Luna S
Down Syndrome Research Group, Medical and Molecular Genetics Center-IRO, Gran Via s/n Km 2.7, L'Hospitalet de Llobregat, 08907, Barcelona, Spain.
Biochim Biophys Acta. 2001 Oct 31;1521(1-3):1-11. doi: 10.1016/s0167-4781(01)00276-7.
Human intersectins (ITSN1 and ITSN2) are members of a conserved family of proteins involved in clathrin-mediated endocytosis. A short and a long isoform with different protein domain compositions have been described for both human intersectins. Here, we have resolved the exon/intron structure of the ITSN2 gene to explain the genomic origin of its alternatively spliced transcripts. Comparison of the two ITSN human genes shows a high level of conservation in their genomic organization, including the main alternative splicing events. An extensive tissue expression analysis of the two predominant transcripts as well as other minor variants shows that ITSN expression is under tissue and developmental controls. Their differential expression is made more evident when the expression of both intersectins is studied by in situ hybridization in mouse brain.
人类相交蛋白(ITSN1和ITSN2)是参与网格蛋白介导的内吞作用的保守蛋白家族成员。已报道两种人类相交蛋白均有具有不同蛋白质结构域组成的短异构体和长异构体。在此,我们解析了ITSN2基因的外显子/内含子结构,以解释其可变剪接转录本的基因组起源。对两个人类ITSN基因的比较显示,它们在基因组组织上具有高度保守性,包括主要的可变剪接事件。对两种主要转录本以及其他次要变体进行的广泛组织表达分析表明,ITSN的表达受组织和发育调控。当通过小鼠脑原位杂交研究两种相交蛋白的表达时,它们的差异表达更加明显。