Human aldehyde dehydrogenase genes: alternatively spliced transcriptional variants and their suggested nomenclature

Black, William J.; Stagos, Dimitrios; Marchitti, Satori A.; Nebert, Daniel W.; Tipton, Keith F.; Bairoch, Amos Marc; Vasiliou, Vasilis

doi:10.1097/FPC.0b013e3283329023

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Title		Human aldehyde dehydrogenase genes: alternatively spliced transcriptional variants and their suggested nomenclature
Authors		Black, William J. Stagos, Dimitrios Marchitti, Satori A. Nebert, Daniel W. Tipton, Keith F. Bairoch, Amos Marc Vasiliou, Vasilis
Published in		Pharmacogenetics and Genomics. 2009, vol. 19, no. 11, p. 893-902
Abstract		OBJECTIVE: 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. Sjogren-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. METHODS: Data-mining methods were used to retrieve all human ALDH sequences. Alternatively spliced transcriptional variants were determined based on (i) criteria for sequence integrity and genomic alignment; (ii) evidence of multiple independent cDNA sequences corresponding to a variant sequence; and (iii) if available, empirical evidence of variants from the literature. RESULTS AND CONCLUSION: 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. 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.
Keywords		Aldehyde Dehydrogenase/genetics — Alternative Splicing/genetics — Animals — Exons/genetics — Humans — Mice — Multigene Family/genetics — Phylogeny — Rats — Terminology as Topic — Transcription, Genetic
Identifiers		DOI: 10.1097/FPC.0b013e3283329023 PMID: 19823103
Full text		Article - Limited access to UNIGE
Structures		Faculté de médecine / Section de médecine fondamentale / Département de biologie structurale et bioinformatique
Research group		CALIPHO (80)
Citation (ISO format)		BLACK, William J. et al. Human aldehyde dehydrogenase genes: alternatively spliced transcriptional variants and their suggested nomenclature. In: Pharmacogenetics and Genomics, 2009, vol. 19, n° 11, p. 893-902. doi: 10.1097/FPC.0b013e3283329023 https://archive-ouverte.unige.ch/unige:19684

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Human aldehyde dehydrogenase genes: alternatively spliced transcriptional variants and their suggested nomenclature