Scientific article

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

Published inPharmacogenetics and genomics, vol. 19, no. 11, p. 893-902
Publication date2009

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.

  • Aldehyde Dehydrogenase/*genetics
  • Alternative Splicing/*genetics
  • Animals
  • Exons/genetics
  • Humans
  • Mice
  • Multigene Family/genetics
  • Phylogeny
  • Rats
  • *Terminology as Topic
  • *Transcription, Genetic
Research group
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
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Article (Published version)
ISSN of the journal1744-6872

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