Genes encoding structural proteins of epidermal cornification and S100 calcium-binding proteins form a gene complex (''epidermal differentiation complex'') on human chromosome 1q21
Genes encoding structural proteins of epidermal cornification and S100 calcium-binding proteins form a gene complex (''epidermal differentiation complex'') on human chromosome 1q21
复制标题
DOI：
10.1111/1523-1747.ep12338501
复制
发表时间：
1996-05-01
影响因子：
6.5
通讯作者：
Ziegler, A
中科院分区：
文献类型：
--
作者：
Mischke, D;Korge, BP;Ziegler, A
1号染色体区域1q21揭示了在人类表皮的终末分化中履行重要功能的基因的最显着密度。这些基因编码的皮质包膜前体兜甲蛋白，外皮蛋白，和小脯氨酸丰富的蛋白质（SPRR1，SPRR2，和SPRR3），中间体相关蛋白原丝聚蛋白和透明质酸，和几个S100A钙结合蛋白。扩展和完善我们以前的物理图1q21，我们现在已经映射了两个额外的S100A基因以及三个SPRR亚家族，并解决了外皮蛋白，SPRRs，和兜甲蛋白的安排。所有基因在人类基因组DNA的1.9 Mbp内按顺序连接：S100A10、透明质酸、聚丝蛋白原、外皮蛋白、SPRR3、SPRR1B、SPRR2A、兜甲蛋白、S100A9、S100A8、S100A6。表皮细胞成熟后期表达的基因与编码钙结合蛋白的基因的共定位是特别有趣的，因为钙水平严格控制上皮细胞的分化和编码表皮结构蛋白的基因的表达。考虑到这些结构和进化相关基因之间的密切功能合作，我们得出结论，这些位点构成了一个基因复合体，我们建议将其命名为表皮分化复合体。
Chromosome 1 reveals in region 1q21 a most remarkable density of genes that fulfill important functions in terminal differentiation of the human epidermis. These genes encode the cornified envelope precursors loricrin, involucrin, and small proline-rich proteins (SPRR1, SPRR2, and SPRR3), the intermediate filament-associated proteins profilaggrin and trichohyalin, and several S100A calcium-binding proteins. Extending and refining our previous physical map of 1q21 we have now mapped two additional S100A genes as well as the three SPRR subfamilies and resolved the arrangement of involucrin, SPRRs, and loricrin. All genes are linked within 1.9 Mbp of human genomic DNA in the order: S100A10, trichohyalin, profilaggrin, involucrin, SPRR3, SPRR1B, SPRR2A, loricrin, S100A9, S100A8, S100A6. Colocalization of genes expressed late during maturation of epidermal cells together with genes encoding calcium-binding proteins is particularly intriguing since calcium levels tightly control the differentiation of epithelial cells and the expression of genes encoding epidermal structural proteins. Accounting for the close functional cooperation among these structurally and evolutionary related genes, we conclude that these loci constitute a gene complex, for which we propose the name epidermal differentiation complex.