The human genes for desmogleins (DSG1 and DSG3) are located in a small region on chromosome 18q12.
The human genes for desmogleins (DSG1 and DSG3) are located in a small region on chromosome 18q12.
复制标题
人类桥粒芯糖蛋白基因（DSG1 和 DSG3）位于染色体 18q12 上的一个小区域。
作者：
Y. Wang;M. Amagai;S. Minoshima;K. Sakai;K. Green;T. Nishikawa;N. Shimizu
桥粒芯糖蛋白是脊椎动物上皮细胞桥粒的跨膜糖蛋白成分。目前已知的三种桥粒蛋白中有两种是自身免疫性皮肤水疱病的自身抗原，寻常型天疱疮和叶子天疱疮，在这些疾病中，自身抗体会导致角质形成细胞失去细胞黏附，从而形成水泡。本研究利用荧光原位杂交技术，将两种自身抗原DSG1和DSG3基因定位在人18号染色体q12带上。此外，通过脉冲场凝胶电泳法将这两个基因定位在一个320kb的基因组片段上。这些结果表明，18号染色体上的桥粒芯糖蛋白基因家族有可能形成一个簇。
Desmoglein is a transmembrane glycoprotein component of desmosomes in vertebrate epithelial cells. Two of the three currently known desmogleins are the autoantigens of autoimmune skin blistering diseases, pemphigus vulgaris and pemphigus foliaceus, in which autoantibodies cause the loss of cell adhesion of keratinocytes with resultant blister formation. In this study, the genes for two autoantigens (DSG1 for pemphigus foliaceus and DSG3 for pemphigus vulgaris) were mapped on band q12 of human chromosome 18 by fluorescence in situ hybridization. Furthermore, both genes were localized on a 320-kb genomic fragment separated by pulsed-field gel electrophoresis. These results suggest the possibility of a cluster for the desmoglein gene family on chromosome 18.