Ask about this productRelated genes to: PRPF8 Blocking Peptide
- Gene:
- PRPF8 NIH gene
- Name:
- pre-mRNA processing factor 8
- Previous symbol:
- RP13
- Synonyms:
- PRPC8, Prp8, hPrp8, SNRNP220
- Chromosome:
- 17p13.3
- Locus Type:
- gene with protein product
- Date approved:
- 2001-12-11
- Date modifiied:
- 2014-11-19
- Gene:
- SNRNP40 NIH gene
- Name:
- small nuclear ribonucleoprotein U5 subunit 40
- Previous symbol:
- WDR57
- Synonyms:
- PRP8BP, SPF38, PRPF8BP, HPRP8BP
- Chromosome:
- 1p35.2
- Locus Type:
- gene with protein product
- Date approved:
- 2005-04-28
- Date modifiied:
- 2016-03-11
Related products to: PRPF8 Blocking Peptide
Related articles to: PRPF8 Blocking Peptide
- Pre-mRNA splicing is performed by the spliceosome, a dynamic macromolecular complex consisting of five small uridine-rich ribonucleoprotein complexes (the U1, U2, U4, U5, and U6 snRNPs) and numerous auxiliary splicing factors. A plethora of human disorders are caused by genetic variants affecting the function and/or expression of splicing factors, including the core snRNP proteins. Variants in the genes encoding proteins of the U5 snRNP cause two distinct and tissue-specific human disease phenotypes - variants in , , and are associated with retinitis pigmentosa (RP), while variants in and cause the craniofacial disorders mandibulofacial dysostosis Guion-Almeida type (MFDGA) and Burn-McKeown syndrome (BMKS), respectively. Furthermore, recurrent somatic mutations or changes in the expression levels of a number of U5 snRNP proteins (, , , , and ) have been associated with human cancers. How and why variants in ubiquitously expressed spliceosome proteins required for pre-mRNA splicing in all human cells result in tissue-restricted disease phenotypes is not clear. Additionally, why variants in different, yet interacting, proteins making up the same core spliceosome snRNP result in completely distinct disease outcomes - RP, craniofacial defects or cancer - is unclear. In this review, we define the roles of different U5 snRNP proteins in RP, craniofacial disorders and cancer, including how disease-associated genetic variants affect pre-mRNA splicing and the proposed disease mechanisms. We then propose potential hypotheses for how U5 snRNP variants cause tissue specificity resulting in the restricted and distinct human disorders. - Source: PubMed
Publication date: 2021/01/28
Wood Katherine AEadsforth Megan ANewman William GO'Keefe Raymond T