title: Defects in pre-mRNA processing as causes of and predisposition to diseases.
abstract: Humans possess a surprisingly low number of genes and intensively use pre-mRNA splicing to achieve the high molecular complexity needed to sustain normal body functions and facilitate responses to altered conditions. Because hundreds of thousands of proteins are generated by 25,000 to 40,000 genes, pre-mRNA processing events are highly important for the regulation of human gene expression. Both inherited and acquired defects in pre-mRNA processing are increasingly recognized as causes of human diseases, and almost all pre-mRNA processing events are controlled by a combination of protein factors. This makes defects in these processes likely candidates for causes of diseases with complicated inheritance patterns that affect seemingly unrelated functions. The elucidation of genetic mechanisms regulating pre-mRNA processing, combined with the development of drugs targeted at consensus RNA sequences and/or corresponding proteins, can lead to novel diagnostic and therapeutic approaches.
authors.affiliation: University of Erlangen-Nurenberg, Institute of Biochemistry, 91054 Erlangen, Germany.
authors.forename: Peter
authors.initials: P
authors.lastname: Stoilov
authors.forename: Eran
authors.initials: E
authors.lastname: Meshorer
authors.forename: Marieta
authors.initials: M
authors.lastname: Gencheva
authors.forename: David
authors.initials: D
authors.lastname: Glick
authors.forename: Hermona
authors.initials: H
authors.lastname: Soreq
authors.forename: Stefan
authors.initials: S
authors.lastname: Stamm
mesh_terms: D002471:Cell Transformation, Neoplastic / Q000235:genetics; D018389:Codon, Nonsense; D020022:Genetic Predisposition to Disease / Q000209:etiology / Q000517:prevention & control; D006801:Humans; D016376:Oligonucleotides, Antisense / Q000627:therapeutic use; D034622:RNA Interference; D012322:RNA Precursors / Q000235:genetics*; D012323:RNA Processing, Post-Transcriptional; D016337:RNA, Catalytic / Q000627:therapeutic use; D012333:RNA, Messenger / Q000235:genetics*; D015534:Trans-Activators / Q000627:therapeutic use
chemical_list: D018389:Codon, Nonsense; D016376:Oligonucleotides, Antisense; D012322:RNA Precursors; D016337:RNA, Catalytic; D012333:RNA, Messenger; D015534:Trans-Activators