Genotype to phenotype mapping still needs underpinning by research in metabolism and enzymology

Bioscience Reports
David A Fell

Abstract

The article 'Evidence that the metabolite repair enzyme NAD(P)HX epimerase has a moonlighting function' by Niehaus et al. published 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 for 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 homoeostasis, thus adding the enzyme to the expanding list of those with a 'moonlighting function'.

References

May 11, 2000·Proceedings of the National Academy of Sciences of the United States of America·J S Edwards, B O Palsson
Jan 22, 2013·Nature Chemical Biology·Carole L LinsterAndrew D Hanson
Mar 13, 2014·The Biochemical Journal·Alexandre Y MarbaixEmile Van Schaftingen
Feb 24, 2015·Journal of Inherited Metabolic Disease·Emile Van SchaftingenCarole L Linster
Oct 17, 2017·Metabolic Engineering·Jiayi SunAndrew D Hanson
Nov 11, 2017·Nucleic Acids Research·Chang ChenConstance Jeffery
Apr 15, 2018·Bioscience Reports·Thomas D NiehausAndrew D Hanson

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