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TRIP8基因的电子鉴定与特征分析

Identification and characterization of TRIP8 gene in silico.

作者信息

Katoh Masuko, Katoh Masaru

机构信息

M&M Medical BioInformatics, Narashino 275-0022, Japan.

出版信息

Int J Mol Med. 2003 Nov;12(5):817-21.

PMID:14533015
Abstract

TRIP1-TRIP15 genes encode thyroid hormone receptor beta (TR beta)-binding proteins. TRIP10 gene encodes FNBP1 family protein with FCH, FBH, and SH3 domains. Among 15 TRIP genes, TRIP8 gene remained uncharacterized except TRIP8 partial cDNA (L40411). Here, we determined the complete coding sequence of TRIP8 gene by using bio-informatics. Nucleotide sequence of full-length TRIP8 cDNA was determined in silico by assembling nucleotide sequences of FLJ14374 and DKFZp761F0118 cDNAs. TRIP8 protein (2540 aa) was found to consist of two bipartite nuclear localization signals (codon 352-368 and 2365-2381), TRI8H1 domain (codon 1697-1873), TRI8H2 domain (codon 2057-2351), and JMJC domain (codon 2387-2486). TRI8H1, TRI8H2 and JMJC domains were conserved among TRIP8, 5qNCA (C5orf7) and TSGA proteins. TR beta-binding domain was overlapped with N-terminal part of TRI8H2 domain, and C2HC4-type zinc finger-like motif was located within C-terminal part of TRI8H1 domain. Because JMJC domain proteins are implicated in chromatin remodeling, TRIP8 was predicted to be a transcriptional regulator associated with nuclear hormone receptors. Human TRIP8 gene, consisting of 26 exons, was about 300 kb in size. Intra-species comparative genomics revealed that TRIP8-EGR2 locus at human chromosome 10q21.3 and 5qNCA-EGR1 locus at human chromosome 5q31 are paralogous regions within human genome. Microsatellite marker D10S1225, associated with Alzheimer's disease, non-syndromic congenital retinal non-attachment (NCRNA) and non-syndromic autosomal recessive persistent hyperplastic primary vitreous (arPHPV), was located within the TRIP8-EGR2 locus. This is the first report on comprehensive characterization of the TRIP8 gene.

摘要

TRIP1 - TRIP15基因编码甲状腺激素受体β(TRβ)结合蛋白。TRIP10基因编码具有FCH、FBH和SH3结构域的FNBP1家族蛋白。在15个TRIP基因中,除了TRIP8部分cDNA(L40411)外,TRIP8基因仍未被充分研究。在此,我们通过生物信息学方法确定了TRIP8基因的完整编码序列。通过组装FLJ14374和DKFZp761F0118 cDNA的核苷酸序列,在计算机上确定了全长TRIP8 cDNA的核苷酸序列。发现TRIP8蛋白(2540个氨基酸)由两个双分核定位信号(密码子352 - 368和2365 - 2381)、TRI8H1结构域(密码子1697 - 1873)、TRI8H2结构域(密码子2057 - 2351)和JMJC结构域(密码子2387 - 2486)组成。TRI8H1、TRI8H2和JMJC结构域在TRIP8、5qNCA(C5orf7)和TSGA蛋白中保守。TRβ结合结构域与TRI8H2结构域的N端部分重叠,C2HC4型锌指样基序位于TRI8H1结构域的C端部分。由于JMJC结构域蛋白与染色质重塑有关,因此预测TRIP8是一种与核激素受体相关的转录调节因子。人类TRIP8基因由26个外显子组成,大小约为300 kb。种内比较基因组学显示,人类染色体10q21.3上的TRIP8 - EGR2基因座和人类染色体5q31上的5qNCA - EGR1基因座是人类基因组中的旁系同源区域。与阿尔茨海默病、非综合征性先天性视网膜脱离(NCRNA)和非综合征性常染色体隐性持续性增生性原发性玻璃体(arPHPV)相关的微卫星标记D10S1225位于TRIP8 - EGR2基因座内。这是关于TRIP8基因全面特征的首次报道。

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