Primary structure of human 11-cis retinol dehydrogenase and organization and chromosomal localization of the corresponding gene.
Primary structure of human 11-cis retinol dehydrogenase and organization and chromosomal localization of the corresponding gene.
复制标题
人11-顺式视黄醇脱氢酶的一级结构以及相应基因的组织和染色体定位。
DOI：
10.1006/geno.1996.0487
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发表时间：
1996
期刊：
影响因子：
4.4
通讯作者：
U. Eriksson
中科院分区：
文献类型：
--
作者：
A. Simon;J. Lagercrantz;S. Bajalica;U. Eriksson
高等动物视觉色素的通用生色团是11-顺式视黄醛。产生该化合物的生物合成途径的最后一步由 11-顺式视黄醇脱氢酶催化，这是一种在眼睛视网膜色素上皮中大量表达的膜结合酶。在这项工作中，我们证明人 11-顺式视黄醇脱氢酶的一级结构高度保守，与牛酶具有 91% 的同一性。编码 11-顺式视黄醇脱氢酶的基因跨越约 4.1 kb 的 DNA，并分为四个翻译的外显子。对一组体细胞杂交体的分析和中期染色体上的荧光原位杂交表明，该基因位于染色体 12q13-q14 上。由于11-顺式视黄醇脱氢酶在视色素生成中的独特作用，它是参与遗传性眼病的候选基因。
The universal chromophore of visual pigments in higher animals is 11-cis retinaldehyde. The final step in the biosynthetic pathway generating this compound is catalyzed by 11-cis retinol dehydrogenase, a membrane-bound enzyme abundantly expressed in the retinal pigment epithelium of the eye. In this work we demonstrate that the primary structure of human 11-cis retinol dehydrogenase is highly conserved with 91% identity to the bovine enzyme. The gene encoding 11-cis retinol dehydrogenase spans over approximately 4.1 kb of DNA and is divided into four translated exons. Analysis of a panel of somatic cells hybrids and fluorescence in situ hybridization on metaphase chromosomes revealed that the gene is located on chromosome 12q13-q14. Due to the unique role of 11-cis retinol dehydrogenase in the generation of visual pigments, it is a candidate gene for involvement in hereditary eye disease.