EPIDERMOLYSIS-BULLOSA SIMPLEX - EVIDENCE IN 2 FAMILIES FOR KERATIN GENE ABNORMALITIES
EPIDERMOLYSIS-BULLOSA SIMPLEX - EVIDENCE IN 2 FAMILIES FOR KERATIN GENE ABNORMALITIES
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DOI：
10.1126/science.1720261
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发表时间：
1991-11-22
期刊：
影响因子：
56.9
通讯作者：
EPSTEIN, EH
中科院分区：
文献类型：
--
作者：
BONIFAS, JM;ROTHMAN, AL;EPSTEIN, EH
单纯性大疱性表皮病（EBS）的特征是由于基底角质形成细胞脆性引起的皮肤起泡。在研究的一个家族中，EBS的遗传与编码角蛋白14的基因有关，角蛋白14的外显子6中的胸腺嘧啶到胞嘧啶突变在α-螺旋区域的中间引入了脯氨酸。在第二个家庭中，EBS的遗传与角蛋白5基因附近的基因座有关。这些数据表明，角蛋白中间丝异二聚体的任一组分的异常都可以损害这些上皮细胞的机械稳定性。
Epidermolysis bullosa simplex (EBS) is characterized by skin blistering due to basal keratinocyte fragility. In one family studied, inheritance of EBS is linked to the gene encoding keratin 14, and a thymine to cytosine mutation in exon 6 of keratin 14 has introduced a proline in the middle of an alpha-helical region. In a second family, inheritance of EBS is linked to loci that map near the keratin 5 gene. These data indicate that abnormalities of either of the components of the keratin intermediate filament heterodipolymer can impair the mechanical stability of these epithelial cells.