Human Dominant Disease Genes Are Enriched in Paralogs Originating from Whole Genome Duplication

摘要

PLOS Computational Biology recently published an article by Chen, Zhao, van Noort, and Bork [1] reporting that, in contrast to duplicated nondisease genes, human monogenic disease (MD) genes are (1) enriched in duplicates (in agreement with earlier reports [2]–[5]) and (2) more functionally similar to their closest paralogs based on sequence conservation and expression profile similarity. Chen et al. then proposed that human MD genes frequently have functionally redundant paralogs that can mask the phenotypic effects of deleterious mutations.