Journal Article


Genotype to phenotype mapping still needs under-pinning by research in metabolism and enzymology

Abstract

The article "Evidence that the metabolite repair enzyme NAD(P)HX epimerase has a moonlighting function" in this issue illustrates a number of the problems that still arise when attempting to translate genotypes to phenotypes, such as for interpreting mutant phenotypes or building genome-scale metabolic models. In this case, the mutation concerned appears to map to an enzyme in one of the little-known but essential metabolite repair pathways that have been discovered in recent years. However, the bioinformatic and experimental evidence presented suggests that the annotated enzyme activity of the mutated gene product, whilst correct, accounts neither for the phenotype nor the chromosomal and transcriptional associations of the gene. The bioinformatic and metabolomic evidence presented points to an additional but important role for the gene product in pyridoxal phosphate homeostasis, thus adding the enzyme to the expanding list of those with a "moonlighting function".

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Authors

Fell, David A.

Oxford Brookes departments

Faculty of Health and Life Sciences\Department of Biological and Medical Sciences

Dates

Year of publication: 2018
Date of RADAR deposit: 2018-06-12


Creative Commons License This work is licensed under a Creative Commons Attribution 4.0 International License


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