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小鼠loricrin基因的特征:与丝聚蛋白原以及3号染色体上的片状尾巴和软毛突变位点的连锁关系

Characterization of the mouse loricrin gene: linkage with profilaggrin and the flaky tail and soft coat mutant loci on chromosome 3.

作者信息

Rothnagel J A, Longley M A, Bundman D S, Naylor S L, Lalley P A, Jenkins N A, Gilbert D J, Copeland N G, Roop D R

机构信息

Department of Cell Biology, Baylor College of Medicine, Houston, Texas 77030.

出版信息

Genomics. 1994 Sep 15;23(2):450-6. doi: 10.1006/geno.1994.1522.

Abstract

Loricrin is the major component of a specialized structure, termed the cornified cell envelope, that is formed beneath the plasma membrane of stratified squamous epithelial cells and is coexpressed with profilaggrin in terminally differentiating epidermal keratinocytes. Full-length cDNAs for both mouse and human loricrin have been cloned and characterized, as has the human gene. Here we report the isolation and characterization of the mouse loricrin gene. The gene has a simple structure consisting of a single intron of 1091 bp within the 5' noncoding sequence and an uninterrupted open reading frame. Using PCR analyses of DNAs isolated from mouse x Chinese hamster somatic cell hybrids, we have mapped both the loricrin and the profilaggrin genes to chromosome 3. Genetic linkage analysis has shown that mouse loricin and profilaggrin lie within 1.5 +/- 1.1 centimorgans of each other. We have further shown that both genes map in the vicinity of the flaky tail (ft) and soft coat (soc) loci. These mouse mutants exhibit a number of changes in their integument, suggesting that abnormalities in these genes may contribute to the mutant phenotype.

摘要

兜甲蛋白是一种特殊结构(称为角质化细胞包膜)的主要成分,该结构在复层鳞状上皮细胞的质膜下方形成,并在终末分化的表皮角质形成细胞中与聚丝蛋白原共同表达。小鼠和人类兜甲蛋白的全长cDNA已被克隆和鉴定,人类基因也是如此。在此,我们报告小鼠兜甲蛋白基因的分离和鉴定。该基因结构简单,在5'非编码序列中有一个1091 bp的单一内含子和一个不间断的开放阅读框。通过对从小鼠×中国仓鼠体细胞杂种中分离的DNA进行PCR分析,我们已将兜甲蛋白基因和聚丝蛋白原基因都定位到3号染色体上。遗传连锁分析表明,小鼠兜甲蛋白和聚丝蛋白原彼此位于1.5±1.1厘摩范围内。我们进一步表明,这两个基因都定位在片状尾(ft)和软毛(soc)基因座附近。这些小鼠突变体的体表有许多变化,表明这些基因的异常可能导致突变体表型。

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