title: The splicing machinery is a genetic modifier of disease severity.
abstract: Disease severity correlates with the level of correctly spliced RNA transcribed from genes carrying splicing mutations and with the ratio of alternatively spliced isoforms. Hence, a role for splicing regulation as a genetic modifier has been suggested. Here we discuss recent experiments that provide direct evidence that changes in the level of splicing factors modulate the splicing pattern of disease-associated genes. Importantly, modulation of the splicing pattern led to regulation of the protein function and modification of disease severity.
authors.affiliation: Department of Genetics, The Life Sciences Institute, The Hebrew University, Jerusalem, Israel.
authors.forename: Malka
authors.initials: M
authors.lastname: Nissim-Rafinia
authors.forename: Batsheva
authors.initials: B
authors.lastname: Kerem
mesh_terms: D017398:Alternative Splicing; D000818:Animals; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006801:Humans; D051379:Mice; D009154:Mutation; D012720:Severity of Illness Index; D014157:Transcription Factors / Q000235:genetics / Q000378:metabolism*
chemical_list: D014157:Transcription Factors