Identification of the human CYS1 gene and candidate gene analysis in Boichis disease
Identification of the human CYS1 gene and candidate gene analysis in Boichis disease
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DOI：
10.1007/s00467-003-1141-1
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发表时间：
2003-06-01
影响因子：
3
通讯作者：
Omran, H
中科院分区：
文献类型：
--
作者：
Fliegauf, M;Fröhlich, C;Omran, H
隐性突变会导致CPK小鼠出现囊性肾病和不同程度的胆汁性肝纤维化。最近，相关的小鼠基因(Cys1)被发现并在肾纤毛组织中表达。在这里，我们描述了克隆的全长编码区的全长人类的细胞色素S_1基因。Cys1位于染色体2p25上。该基因由三个编码外显子组成，大小为22kb。该转录本含有一个由477个核苷酸组成的开放阅读框架，编码一个含有158个氨基酸残基的蛋白质，称为胱氨酸。Northern分析鉴定出一种类似于小鼠Cys1的表达模式。我们研究了8个患有肾炎和肝纤维化的家系的受累个体，以寻找CyS1突变的证据。用聚合酶链式反应扩增3个编码外显子，并直接测序。尽管未能检测到突变，但人类囊蛋白基因仍然是隐性囊性肾病的一个有趣的候选基因。
Recessive mutations cause cystic kidney disease and a variable degree of biliary liver fibrosis in cpk mice. Recently, the responsible murine gene (Cys1) was identified and expression in renal cilia demonstrated. Here we describe the cDNA cloning of the full-length coding region of the orthologous human CYS1 gene. CYS1 is located on Chromosome 2p25. The CYS1 genomic region comprises three coding exons, which span 22 kb. The transcript harbors an open reading frame of 477 nucleotides encoding a protein with 158 amino acid residues, which is called cystin. Northern analysis identified an expression pattern resembling that of murine Cys1. We studied affected individuals of eight families with nephronophthisis and liver fibrosis for evidence of CYS1 mutations. All three coding exons were amplified by polymerase chain reaction and directly sequenced. Despite the failure to detect a mutation, the human cystin gene remains an interesting candidate for recessive cystic kidney disease.