title: Are splicing mutations the most frequent cause of hereditary disease?
abstract: Disease-causing point mutations are assumed to act predominantly through subsequent individual changes in the amino acid sequence that impair the normal function of proteins. However, point mutations can have a more dramatic effect by altering the splicing pattern of the gene. Here, we describe an approach to estimate the overall importance of splicing mutations. This approach takes into account the complete set of genes known to be involved in disease and suggest that, contrary to current assumptions, many mutations causing disease may actually be affecting the splicing pattern of the genes.
authors.affiliation: Computational Genomics Group, The European Bioinformatics Institute, EMBL Cambridge Outstation, Cambridge CB10 1SD, UK. nlbigas@ebi.ac.uk
authors.forename: Núria
authors.initials: N
authors.lastname: López-Bigas
authors.forename: Benjamin
authors.initials: B
authors.lastname: Audit
authors.forename: Christos
authors.initials: C
authors.lastname: Ouzounis
authors.forename: Genís
authors.initials: G
authors.lastname: Parra
authors.forename: Roderic
authors.initials: R
authors.lastname: Guigó
mesh_terms: D019943:Amino Acid Substitution / Q000235:genetics; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D006801:Humans; D008957:Models, Genetic; D017354:Point Mutation / Q000235:genetics*; D012326:RNA Splicing / Q000235:genetics*