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编码寻常型天疱疮抗原的人类基因(DSG3),与编码其他两种已知桥粒芯糖蛋白的基因一样,定位于18号染色体。

The human gene (DSG3) coding for the pemphigus vulgaris antigen is, like the genes coding for the other two known desmogleins, assigned to chromosome 18.

作者信息

Arnemann J, Spurr N K, Buxton R S

机构信息

Laboratory of Eukaryotic Molecular Genetics, National Institute for Medical Research, Mill Hill, London, UK.

出版信息

Hum Genet. 1992 May;89(3):347-50. doi: 10.1007/BF00220557.

Abstract

Pemphigus vulgaris (PV) is a potentially lethal skin disease in which epidermal blisters occur as the result of the loss of cell-cell adhesion caused by the action of autoantibodies against a keratinocyte cell surface glycoprotein, the PV antigen (PVA). This latter protein is a member of the desmoglein subfamily of the cadherin superfamily of cell-cell adhesion molecules, present in the desmosome type of intercellular junction. The other two known desmogleins are DGI, which is a target antigen in another autoantibody-mediated blistering disease of the epidermis, pemphigus foliaceous, and HDGC, which is expressed in the basal layer of the epidermis and in the simple epithelium of, for example, the colon. Genes coding for DGI (DSG1) and HDGC (DSG2) have previously been assigned to human chromosome 18. We now present evidence, using a polymerase chain reaction assay, that DSG3, the gene coding for PVA, is assigned to the same chromosome.

摘要

寻常型天疱疮(PV)是一种潜在致命性皮肤病,其表皮水疱是由抗角质形成细胞表面糖蛋白(PV抗原,PVA)的自身抗体作用导致细胞间黏附丧失所致。后一种蛋白是钙黏蛋白超家族细胞间黏附分子桥粒芯糖蛋白亚家族的成员,存在于桥粒型细胞间连接中。另外两种已知的桥粒芯糖蛋白是DGI,它是另一种自身抗体介导的表皮水疱病——落叶型天疱疮的靶抗原,以及HDGC,其在表皮基底层和例如结肠的单层上皮中表达。编码DGI(DSG1)和HDGC(DSG2)的基因先前已被定位到人类18号染色体。我们现在使用聚合酶链反应分析提供证据,表明编码PVA的基因DSG3也定位于同一染色体。

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