The human intermediate filament database: Comprehensive information on a gene family involved in many human diseases
The human intermediate filament database: Comprehensive information on a gene family involved in many human diseases
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DOI：
10.1002/humu.20652
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发表时间：
2008-03-01
期刊：
影响因子：
3.9
通讯作者：
Lane, E. Birgitte
中科院分区：
文献类型：
--
作者：
Szeverenyi, Ildiko;Cassidy, Andrew J.;Lane, E. Birgitte
我们描述了一个修订和扩展的数据库，人类中间丝蛋白，真核细胞骨架的主要组成部分。目前已知70个中间丝基因家族（包括编码角蛋白、结蛋白和核纤层蛋白的基因）与多种多样的疾病相关，至少72种不同的人类病理学，包括皮肤起泡、肌营养不良、心肌病、早衰综合征、神经退行性疾病和白内障。迄今为止，该数据库收录了来自459篇同行评审研究论文的1，274个手动策划的致病序列变体和170个中间丝基因等位基因变体。从所有6个序列同源组中收集不相关的病例，并在cDNA和蛋白质水平上描述序列变异，并链接到相关疾病和参考文献。突变和多态性与蛋白质结构、基因和染色体位置的数据以及相关疾病的基本信息平行呈现。与数据库中的变体记录相关的详细统计数据按同源组、突变类型、受影响的结构域、相关疾病以及核酸和氨基酸取代显示。可以从查询运行多个序列比对算法以确定DNA或蛋白质序列保守性。可以在数据库中查询文献来源，并提供公共数据库的外部链接。该数据库可在www.interfil.org网站上免费公开查阅（最后一次查阅是在2007年9月13日）。用户可以通过各种关键字查询数据库，并可以下载搜索结果。预计人类中间纤维数据库（HIFD）将为基础科学家，临床医生和学生提供研究人类基因组变异的有用资源。
We describe a revised and expanded database on human intermediate filament proteins, a major component of the eukaryotic cytoskeleton. The family of 70 intermediate filament genes (including those encoding keratins, desmins, and lamins) is now known to be associated with a wide range of diverse diseases, at least 72 distinct human pathologies, including skin blistering, muscular dystrophy, cardiomyopathy, premature aging syndromes, neurodegenerative disorders, and cataract. TO date, the database catalogs 1,274 manually, curated pathogenic sequence variants and 170 allelic variants in intermediate filament genes from over 459 peer,reviewed research articles. Unrelated cases were collected from all of the six sequence homology groups and the sequence variations were described at cDNA and protein levels with links to the related diseases and reference articles. The mutations and polymorphisms are presented in parallel with data on protein structure, gene, and chromosomal location and basic information on associated diseases. Detailed statistics relating to the variants records in the database are displayed by homology group, mutation type, affected domain, associated diseases, and nucleic and amino acid substitutions. Multiple sequence alignment algorithms can be run from queries to determine DNA or protein sequence conservation. Literature sources can be interrogated within the database and external links are provided to public databases. The database is freely and publicly accessible online at www.interfil.org (last accessed 13 September 2007). Users can query the database by various keywords and the search results can be downloaded. It is anticipated that the Human Intermediate Filament Database (HIFD) will provide a useful resource to study human genome variations for basic scientists, clinicians, and students alike.