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真核生物醛脱氢酶(ALDH)基因:人类多态性以及基于趋异进化和染色体定位的推荐命名法。

Eukaryotic aldehyde dehydrogenase (ALDH) genes: human polymorphisms, and recommended nomenclature based on divergent evolution and chromosomal mapping.

作者信息

Vasiliou V, Bairoch A, Tipton K F, Nebert D W

机构信息

Department of Pharmaceutical Sciences, School of Pharmacy, University of Colorado Health Sciences Centre, Denver, USA.

出版信息

Pharmacogenetics. 1999 Aug;9(4):421-34.

PMID:10780262
Abstract

As currently being performed with an increasing number of superfamilies, a standardized gene nomenclature system is proposed here, based on divergent evolution, using multiple alignment analysis of all 86 eukaryotic aldehyde dehydrogenase (ALDH) amino-acid sequences known at this time. The ALDHs represent a superfamily of NAD(P)(+)-dependent enzymes having similar primary structures that oxidize a wide spectrum of endogenous and exogenous aliphatic and aromatic aldehydes. To date, a total of 54 animal, 15 plant, 14 yeast, and three fungal ALDH genes or cDNAs have been sequenced. These ALDHs can be divided into a total of 18 families (comprising 37 subfamilies), and all nonhuman ALDH genes are named here after the established human ALDH genes, when possible. An ALDH protein from one gene family is defined as having approximately < or = 40% amino-acid identity to that from another family. Two members of the same subfamily exhibit approximately > or = 60% amino-acid identity and are expected to be located at the same subchromosomal site. For naming each gene, it is proposed that the root symbol 'ALDH' denoting 'aldehyde dehydrogenase' be followed by an Arabic number representing the family and, when needed, a letter designating the subfamily and an Arabic number denoting the individual gene within the subfamily; all letters are capitalized in all mammals except mouse and fruit fly, e.g. 'human ALDH3A1 (mouse, Drosophila Aldh3a1).' It is suggested that the Human Gene Nomenclature Guidelines (http://++www.gene.ucl.ac.uk/nomenclature/guidelines.h tml) be used for all species other than mouse and Drosophila. Following these guidelines, the gene is italicized, whereas the corresponding cDNA, mRNA, protein or enzyme activity is written with upper-case letters and without italics, e.g. 'human, mouse or Drosophila ALDH3A1 cDNA, mRNA, or activity'. If an orthologous gene between species cannot be identified with certainty, sequential naming of these genes will be carried out in chronological order as they are reported to us. In addition, 20 human ALDH variant alleles that have been reported to date are listed herein and are recommended to be given numbers (or a number plus a capital letter) following an asterisk (e.g. 'ALDH3A22, ALDH24C'). It is anticipated that this eukaryotic ALDH gene nomenclature system will be extended to include bacterial genes within the next 2 years and that this nomenclature system will require updating on a regular basis; an ALDH Web site has been established for this purpose (http://++www.uchsc.edu/sp./sp./alcdbase/a ldhcov.html) and will serve as a medium for interaction amongst colleagues in this field.

摘要

目前,随着越来越多的超家族研究开展,本文基于趋异进化,利用目前已知的所有86个真核生物醛脱氢酶(ALDH)氨基酸序列的多重比对分析,提出了一种标准化的基因命名系统。ALDHs代表一类依赖NAD(P)(+)的酶超家族,它们具有相似的一级结构,可氧化多种内源性和外源性脂肪族及芳香族醛类。迄今为止,已对总共54个动物、15个植物、14个酵母和3个真菌的ALDH基因或cDNA进行了测序。这些ALDHs可总共分为18个家族(包含37个亚家族),所有非人类ALDH基因在可能的情况下,在此均以已确立的人类ALDH基因为基础进行命名。来自一个基因家族的ALDH蛋白被定义为与来自另一个家族的ALDH蛋白具有约≤40%的氨基酸同一性。同一亚家族的两个成员表现出约≥60%的氨基酸同一性,并预期位于同一亚染色体位点。对于每个基因的命名,建议表示“醛脱氢酶”的词根符号“ALDH”后面跟一个代表家族的阿拉伯数字,如有需要,再跟一个表示亚家族的字母和一个表示该亚家族内单个基因的阿拉伯数字;在除小鼠和果蝇以外的所有哺乳动物中,所有字母均大写,例如“人类ALDH3A1(小鼠、果蝇为Aldh3a1)”。建议对小鼠和果蝇以外的所有物种使用《人类基因命名指南》(http://++www.gene.ucl.ac.uk/nomenclature/guidelines.html)。遵循这些指南,基因用斜体表示,而相应的cDNA、mRNA、蛋白质或酶活性用大写字母书写且不用斜体,例如“人类、小鼠或果蝇ALDH3A1 cDNA、mRNA或活性 ”。如果无法确定物种间的直系同源基因,则将按照向我们报告的时间顺序对这些基因进行连续命名。此外,本文列出了迄今为止已报道的20个人类ALDH变异等位基因,并建议在星号后给予编号(或一个编号加一个大写字母)(例如“ALDH3A22,ALDH24C”)。预计在未来两年内,这个真核生物ALDH基因命名系统将扩展到包括细菌基因,并且这个命名系统需要定期更新;为此已建立了一个ALDH网站(http://++www.uchsc.edu/sp./sp./alcdbase/al dhcov.html),它将作为该领域同事之间交流的媒介。

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