UCD Conway Institute of Biomolecular and Biomedical Research, University College Dublin (UCD), Belfield, Dublin 4, Ireland.
Cell Mol Life Sci. 2011 Aug;68(15):2493-8. doi: 10.1007/s00018-011-0728-0. Epub 2011 May 20.
Alpha-T-Catenin (CTNNA3) is a key protein of the adherens junctional complex in epithelial cells playing a crucial role in cellular adherence. What makes this gene particularly interesting is that it is located within a common fragile site, is epigenetically regulated, is transcribed through multiple promoters, and generates a variety of alternate transcripts. Finally, CTNNA3 has a nested gene (LRTMM3) embedded within its genomic context transcribed in the opposite direction. Apart from the complexity of its regulation, alterations in both CTNNA3 and LRTMM3 are implicated in human disease.
α-连环蛋白(CTNNA3)是上皮细胞黏着连接复合体的关键蛋白,在细胞黏附中起关键作用。使这个基因特别有趣的是,它位于常见的脆性位点内,受表观遗传调控,通过多个启动子转录,并产生多种替代转录本。最后,CTNNA3 有一个嵌套基因(LRTMM3)嵌入其基因组中,以相反的方向转录。除了其调控的复杂性之外,CTNNA3 和 LRTMM3 的改变都与人类疾病有关。