Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport
Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport
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DOI：
10.1086/375454
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发表时间：
2003-06-01
影响因子：
9.8
通讯作者：
Lehesjoki, AE
中科院分区：
文献类型：
--
作者：
Kolehmainen, J;Black, GCM;Lehesjoki, AE
科恩综合征是一种罕见的常染色体隐性遗传疾病，其诊断是基于非进行性精神发育迟滞和小头畸形、特征性面部特征、视网膜营养不良和间歇性中性粒细胞减少的临床表现。我们已经完善了染色体8 q22上的单倍型分析的关键区域，我们报告了一个新的基因，COH 1，这是突变的科恩综合征患者的特征。最长的转录本（14，093 bp）广泛表达，并且从跨越类似于864 kb的基因组区域的62个外显子转录。COH 1编码一个4,022个氨基酸的跨膜蛋白，具有复杂的结构域。与酿酒酵母VPS 13蛋白的同源性表明COH 1在细胞内囊泡介导的蛋白质分选和转运中的作用。
Cohen syndrome is an uncommon autosomal recessive disorder whose diagnosis is based on the clinical picture of nonprogressive psychomotor retardation and microcephaly, characteristic facial features, retinal dystrophy, and intermittent neutropenia. We have refined the critical region on chromosome 8q22 by haplotype analysis, and we report the characterization of a novel gene, COH1, that is mutated in patients with Cohen syndrome. The longest transcript (14,093 bp) is widely expressed and is transcribed from 62 exons that span a genomic region of similar to864 kb. COH1 encodes a putative transmembrane protein of 4,022 amino acids, with a complex domain structure. Homology to the Saccharomyces cerevisiae VPS13 protein suggests a role for COH1 in vesicle-mediated sorting and transport of proteins within the cell.