Identification and characterization of C6orf37, a novel candidate human retinal disease gene on chromosome 6q14
Identification and characterization of C6orf37, a novel candidate human retinal disease gene on chromosome 6q14
复制标题
DOI：
10.1016/s0006-291x(02)00228-0
复制
发表时间：
2002-04-26
影响因子：
3.1
通讯作者：
Ayyagari, R
中科院分区：
文献类型：
--
作者：
Lagali, PS;Kakuk, LE;Ayyagari, R
我们发现了一种新的人类基因。第6号染色体开放阅读框37(C6或37)。它在视网膜中表达，并映射到人类染色体6q14。含有多个视网膜疾病基因座的基因组区域。该序列含有一个1314bp的开放阅读框，编码一个437个氨基酸的蛋白质，预测的相对分子质量为49.2 kDa。Northern印迹分析表明，该基因广泛表达，与其他眼组织相比，在视网膜中有优先表达。C6orf‘37蛋白与褐家鼠中可能的蛋白有同源性。M.Musculus、黑腹小卷蛾D.和线虫。暗示了功能的进化守恒。额外的序列分析预测，C6orf37基因产物是一种可溶性的球状细胞质蛋白，含有几个保守的磷酸化位点。更重要的是。我们已经确定了这个基因的基因组结构。这将使其能够作为6q染色体相关遗传性视网膜疾病的候选基因进行分析。(C)2002年埃尔塞维尔科学公司(美国)。版权所有。
We have identified a novel human gene. chromosome 6 open readingframe 37 (C6or 37). that is expressed in the retina and maps to human chromosome 6q14. a genomic region that harbors multiple retinal disease loci. The cDNA sequence contains an open reading frame of 1314 bp that encodes a 437-amino acid protein with a predicted molecular mass of 49.2 kDa. Northern blot analysis indicates that this gene is widely expressed, with preferential expression observed in the retina compared to other ocular tissues. The C6orf`37 protein shares homology with putative proteins in R. norvegicus. M. musculus, D. melanogaster. and C. elegans. suggesting evolutionary conservation of function. Additional sequence analysis predicts that the C6orf37 gene product is a soluble, globular cytoplasmic protein containing several conserved phosphorylation sites. Furthermore. we have defined the genomic structure of this gene. which will enable its analysis as a candidate gene for chromosome 6q-associated inherited retinal disorders. (C) 2002 Elsevier Science (USA). All rights reserved.