Human aldehyde dehydrogenase genes: alternatively spliced transcriptional variants and their suggested nomenclature.
Human aldehyde dehydrogenase genes: alternatively spliced transcriptional variants and their suggested nomenclature.
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DOI：
10.1097/fpc.0b013e3283329023
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发表时间：
2009-11
影响因子：
2.6
通讯作者：
Vasiliou V
中科院分区：
文献类型：
--
作者：
Black WJ;Stagos D;Marchitti SA;Nebert DW;Tipton KF;Bairoch A;Vasiliou V
人醛脱氢酶(ALDH)基因超家族由19个基因组成，编码的酶对药物和环境毒物等内源和外源醛的NAD(P)依赖氧化至关重要。ALDH基因突变是几种疾病状态(如Sjögren-Larsson综合征、吡哆醇依赖癫痫和II型高脯氨酸血症)的分子基础，并可能与癌症和阿尔茨海默病等复杂疾病的病因有关。此次命名更新的目的是确定主要针对人类ALDH基因的剪接转录变体。使用数据挖掘方法检索所有人类ALDH序列。选择性剪接转录变异体的确定基于：a)序列完整性和基因组比对的标准；b)与变异体序列相对应的多个独立的cdna序列的证据；以及c)来自文献的变异体的经验证据。大多数人类ALDH基因都存在选择性剪接转录变异体及其编码蛋白；然而，它们的功能和意义仍有待确定。与人类基因组相比，大鼠和小鼠在ALDH1A亚家族中包括一个额外的基因Aldh1a7。为了避免在鉴定各种基因组中的剪接变异体时的混淆，这里推荐命名这种可选转录变异体和蛋白质的命名指南。此外，还开发了一个网络数据库(www.aldh.org)，以提供ALDH超家族的最新信息和命名指南。
The human aldehyde dehydrogenase (ALDH) gene superfamily consists of 19 genes encoding enzymes critical for NAD(P)+-dependent oxidation of endogenous and exogenous aldehydes, including drugs and environmental toxicants. Mutations in ALDH genes are the molecular basis of several disease states (e.g. Sjögren-Larsson syndrome, pyridoxine-dependent seizures, and type II hyperprolinemia) and may contribute to the etiology of complex diseases such as cancer and Alzheimer’s disease. The aim of this nomenclature update was to identify splice transcriptional variants principally for the human ALDH genes. Data-mining methods were used to retrieve all human ALDH sequences. Alternatively-spliced transcriptional variants were determined based upon: a) criteria for sequence integrity and genomic alignment; b) evidence of multiple independent cDNA sequences corresponding to a variant sequence; and c) if available, empirical evidence of variants from the literature. Alternatively-spliced transcriptional variants and their encoded proteins exist for most of the human ALDH genes; however, their function and significance remain to be established. When compared with the human genome, rat and mouse include an additional gene, Aldh1a7, in the ALDH1A subfamily. In order to avoid confusion when identifying splice variants in various genomes, nomenclature guidelines for the naming of such alternative transcriptional variants and proteins are recommended herein. In addition, a web database (www.aldh.org) has been developed to provide up-to-date information and nomenclature guidelines for the ALDH superfamily.