biostudies-literatureWood KAMedical Research CouncilBiotechnology and Biological Sciences Research Council636620https://www.ebi.ac.uk/biostudies/studies/S-EPMC7876476biostudies-literatureUnknown12Pre-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. FuFrontiers in geneticsThe Role of the U5 snRNP in Genetic Disorders and Cancer.PMC7876476BB/S00047X/11916606Newman WGO'Keefe RTWood KAEadsforth MAfalseThe Role of the U5 snRNP in Genetic Disorders and Cancer.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. Fu2021-01-01T00:00:00Z20212025-06-01T00:46:58.444Z2025-06-01T00:46:58.444ZS-EPMC78764763358483010.3389/fgene.2021.636620