Network properties of genes harboring inherited disease mutations

232Citations
Citations of this article
260Readers
Mendeley users who have this article in their library.

Abstract

By analyzing, in parallel, large literature-derived and high-throughput experimental datasets we investigate genes harboring human inherited disease mutations in the context of molecular interaction networks. Our results demonstrate that network properties influence the likelihood and phenotypic consequences of disease mutations. Genes with intermediate connectivities have the highest probability of harboring germ-line disease mutations, suggesting that disease genes tend to occupy an intermediate niche in terms of their physiological and cellular importance. Our analysis of tissue expression profiles supports this view. We show that disease mutations are less likely to occur in essential genes compared with all human genes. Disease genes display significant functional clustering in the analyzed molecular network. For about one-third of known disorders with two or more associated genes we find physical clusters of genes with the same phenotype. These clusters are likely to represent disorder-specific functional modules and suggest a framework for identifying yet-undiscovered disease genes. © 2008 by The National Academy of Sciences of the USA.

Cite

CITATION STYLE

APA

Feldman, I., Rzhetsky, A., & Vitkup, D. (2008). Network properties of genes harboring inherited disease mutations. Proceedings of the National Academy of Sciences of the United States of America, 105(11), 4323–4328. https://doi.org/10.1073/pnas.0701722105

Register to see more suggestions

Mendeley helps you to discover research relevant for your work.

Already have an account?

Save time finding and organizing research with Mendeley

Sign up for free