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桥粒芯糖蛋白(桥粒芯糖蛋白1和桥粒芯糖蛋白3)的人类基因位于18号染色体18q12的一个小区域。

The human genes for desmogleins (DSG1 and DSG3) are located in a small region on chromosome 18q12.

作者信息

Wang Y, Amagai M, Minoshima S, Sakai K, Green K J, Nishikawa T, Shimizu N

机构信息

Department of Molecular Biology, Keio University School of Medicine, Tokyo, Japan.

出版信息

Genomics. 1994 Apr;20(3):492-5. doi: 10.1006/geno.1994.1207.

Abstract

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.

摘要

桥粒芯蛋白是脊椎动物上皮细胞中桥粒的一种跨膜糖蛋白成分。目前已知的三种桥粒芯蛋白中有两种是自身免疫性皮肤水疱病(寻常型天疱疮和落叶型天疱疮)的自身抗原,在这些疾病中,自身抗体导致角质形成细胞的细胞黏附丧失,从而形成水疱。在本研究中,通过荧光原位杂交将两种自身抗原(落叶型天疱疮的DSG1和寻常型天疱疮的DSG3)的基因定位在人类18号染色体的q12带上。此外,通过脉冲场凝胶电泳将这两个基因定位在一个320kb的基因组片段上。这些结果提示18号染色体上存在桥粒芯蛋白基因家族簇的可能性。

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