Basal exon skipping and genetic pleiotropy: A predictive model of disease pathogenesis.

ABSTRACT: Genetic pleiotropy, the phenomenon by which mutations in the same gene result in markedly different disease phenotypes, has proven difficult to explain with traditional models of disease pathogenesis. We have developed a model of pleiotropic disease that explains, through the process of basal exon skipping, how different mutations in the same gene can differentially affect protein production, with the total amount of protein produced correlating with disease severity. Mutations in the centrosomal protein of 290 kDa (CEP290) gene are associated with a spectrum of phenotypically distinct human diseases (the ciliopathies). Molecular biologic examination of CEP290 transcript and protein expression in cells from patients carrying CEP290 mutations, measured by quantitative polymerase chain react

SUBMITTER: Drivas TG 

PROVIDER: S-EPMC4486480 | biostudies-literature | 2015 Jun

REPOSITORIES: biostudies-literature