Szeverenyi Ildiko, Cassidy Andrew J, Chung Cheuk Wang, Lee Bernett T K, Common John E A, Ogg Stephen C, Chen Huijia, Sim Shu Yin, Goh Walter L P, Ng Kee Woei, Simpson John A, Chee Li Lian, Eng Goi Hui, Li Bin, Lunny Declan P, Chuon Danny, Venkatesh Aparna, Khoo Kian Hoe, McLean W H Irwin, Lim Yun Ping, Lane E Birgitte
Epithelial Biology Group, Institute of Medical Biology, Singapore.
Hum Mutat. 2008 Mar;29(3):351-60. doi: 10.1002/humu.20652.
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.
我们描述了一个经过修订和扩展的关于人类中间丝蛋白的数据库，中间丝蛋白是真核细胞骨架的主要组成部分。现已发现，由70个中间丝基因组成的家族（包括那些编码角蛋白、结蛋白和核纤层蛋白的基因）与多种不同疾病相关，至少涉及72种不同的人类病症，包括皮肤起泡、肌肉萎缩症、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篇以上同行评议研究论文的1274个经人工整理的中间丝基因致病性序列变异和170个等位基因变异。从所有六个序列同源组中收集了不相关的病例，并在cDNA和蛋白质水平描述了序列变异，同时提供了与相关疾病和参考文献的链接。数据库中呈现了突变和多态性，并伴有蛋白质结构、基因、染色体定位数据以及相关疾病的基本信息。通过同源组、突变类型、受影响结构域、相关疾病以及核酸和氨基酸替换等信息，展示了与数据库中变异记录相关的详细统计数据。可以通过查询运行多序列比对算法，以确定DNA或蛋白质序列的保守性。可在数据库中查询文献来源，并提供指向公共数据库的外部链接。该数据库可在www.interfil.org上免费公开访问（最后访问时间为2007年9月13日）。用户可以通过各种关键词查询数据库，搜索结果可以下载。预计人类中间丝数据库（HIFD）将为基础科学家、临床医生和学生等研究人类基因组变异提供有用的资源。
