title: Splicing regulation as a potential genetic modifier.
abstract: Inherited diseases are associated with profound phenotypic variability, which is affected strongly by genetic modifiers. The splicing machinery could be one such modifying system, through a mechanism involving splicing motifs and their interaction with a complex repertoire of splicing factors. Mutations in splicing motifs and changes in levels of splicing factors can result in different splicing patterns. Changes in the level of normal transcripts or in the relative pattern of different mRNA isoforms affect disease expression, leading to phenotypic variability. Here, we discuss the splicing machinery in terms of its significance in disease severity and its potential role as a genetic modifier.
authors.affiliation: Dept of Genetics, The Life Sciences Institute, The Hebrew University, 91904, 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 / Q000235:genetics*; D000818:Animals; D001483:Base Sequence; D002467:Cell Nucleus / Q000378:metabolism; D005786:Gene Expression Regulation; D014644:Genetic Variation; D006801:Humans; D008957:Models, Genetic; D008969:Molecular Sequence Data; D012326:RNA Splicing / Q000235:genetics*; D014158:Transcription, Genetic