Identification of a novel cytosolic aldehyde dehydrogenase allele, ALDHIAI*4

Shelley M Moore,Lucinda G Carr,Tamara J Graves,Tiebing Liang,Cindy L Ehlers,Kevin M Mccall

doi:10.1186/1479-7364-3-4-304

Abstract

This paper reports the identification of a novel cytosolic aldehyde dehydrogenase 1 (ALDHIAI) allele. One hundred and sixty-two Indo-Trinidadian and 85 Afro-Trinidadian individuals were genotyped. A novel ALDHIAI allele, ALDHIAI*4, was identified in an Indo-Trinidadian alcoholic with an A inserted at position -554 relative to the translational start site, +1. It was concluded that a wider cross-section of individuals needs to be evaluated in order to determine the representative frequency of the allele, and to see if it is associated with risk of alcoholism.

Highlights

The human cytosolic enzyme aldehyde dehydrogenase 1 (ALDH1A1) functions mainly in acetaldehyde and neurotransmitter metabolism
It is reported to play a major role in the production of retinoic acid, which is important for gene expression and tissue differentiation, and in cyclophosphamide detoxification.[1,2,3]. It is found in various tissues, including the central nervous system (CNS),[4] with highest levels in the liver.[2]
Two polymorphisms have been previously identified in the promoter region of ALDH1A1

Summary

Introduction

The human cytosolic enzyme aldehyde dehydrogenase 1 (ALDH1A1) functions mainly in acetaldehyde and neurotransmitter metabolism. The transcription initiation site is located 53 bp upstream from the A of the initiation codon (ATG).[18,19,20] Two polymorphisms have been previously identified in the promoter region of ALDH1A1.

Results

Conclusion