Gain and loss of phosphorylation sites in human cancer

Radivojac, P., Baenziger, P. H., Kann, M. G., Mort, Matthew, Hahn, M. W. and Mooney, S. D. 2008. Gain and loss of phosphorylation sites in human cancer. Bioinformatics 24 (16) , i241-i247. 10.1093/bioinformatics/btn267

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Abstract

Motivation: Coding-region mutations in human genes are responsible for a diverse spectrum of diseases and phenotypes. Among lesions that have been studied extensively, there are insights into several of the biochemical functions disrupted by disease-causing mutations. Currently, there are more than 60 000 coding-region mutations associated with inherited disease catalogued in the Human Gene Mutation Database (HGMD, August 2007) and more than 70 000 polymorphic amino acid substitutions recorded in dbSNP (dbSNP, build 127). Understanding the mechanism and contribution these variants make to a clinical phenotype is a formidable problem. Results: In this study, we investigate the role of phosphorylation in somatic cancer mutations and inherited diseases. Somatic cancer mutation datasets were shown to have a significant enrichment for mutations that cause gain or loss of phosphorylation when compared to our control datasets (putatively neutral nsSNPs and random amino acid substitutions). Of the somatic cancer mutations, those in kinase genes represent the most enriched set of mutations that disrupt phosphorylation sites, suggesting phosphorylation target site mutation is an active cause of phosphorylation deregulation. Overall, this evidence suggests both gain and loss of a phosphorylation site in a target protein may be important features for predicting cancercausing mutations and may represent a molecular cause of disease for a number of inherited and somatic mutations.

Item Type:	Article
Status:	Published
Schools:	Medicine
Subjects:	R Medicine > RC Internal medicine > RC0254 Neoplasms. Tumors. Oncology (including Cancer)
Publisher:	Oxford University Press
ISSN:	1367-4803
Funders:	IU Biomedical Research Council, Indiana University, the Showalter Trust and the Indiana Genomics Initiative (INGEN)
Date of First Compliant Deposit:	16 June 2016
Last Modified:	04 Jun 2017 09:12
URI:	https://orca.cardiff.ac.uk/id/eprint/91916

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