{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Wood KA"],"funding":["Medical Research Council","Biotechnology and Biological Sciences Research Council"],"pagination":["636620"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC7876476"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["12"],"pubmed_abstract":["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 <i>PRPF6</i>, <i>PRPF8</i>, and <i>SNRP200</i> are associated with retinitis pigmentosa (RP), while variants in <i>EFTUD2</i> and <i>TXNL4A</i> cause the craniofacial disorders mandibulofacial dysostosis Guion-Almeida type (MFDGA) and Burn-McKeown syndrome (BMKS), respectively. Fu"],"journal":["Frontiers in genetics"],"pubmed_title":["The Role of the U5 snRNP in Genetic Disorders and Cancer."],"pmcid":["PMC7876476"],"funding_grant_id":["BB/S00047X/1","1916606"],"pubmed_authors":["Newman WG","O'Keefe RT","Wood KA","Eadsforth MA"],"additional_accession":[]},"is_claimable":false,"name":"The Role of the U5 snRNP in Genetic Disorders and Cancer.","description":"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 <i>PRPF6</i>, <i>PRPF8</i>, and <i>SNRP200</i> are associated with retinitis pigmentosa (RP), while variants in <i>EFTUD2</i> and <i>TXNL4A</i> cause the craniofacial disorders mandibulofacial dysostosis Guion-Almeida type (MFDGA) and Burn-McKeown syndrome (BMKS), respectively. Fu","dates":{"release":"2021-01-01T00:00:00Z","publication":"2021","modification":"2025-06-01T00:46:58.444Z","creation":"2025-06-01T00:46:58.444Z"},"accession":"S-EPMC7876476","cross_references":{"pubmed":["33584830"],"doi":["10.3389/fgene.2021.636620"]}}