{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T03:41:11Z","timestamp":1790566871214,"version":"4.1.0"},"reference-count":195,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2021,1,28]],"date-time":"2021-01-28T00:00:00Z","timestamp":1611792000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000268","name":"Biotechnology and Biological Sciences Research Council","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000268","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000265","name":"Medical Research Council","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000265","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"abstract":"<jats:p>\n                    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 \u2013 variants in\n                    <jats:italic>PRPF6<\/jats:italic>\n                    ,\n                    <jats:italic>PRPF8<\/jats:italic>\n                    , and\n                    <jats:italic>SNRP200<\/jats:italic>\n                    are associated with retinitis pigmentosa (RP), while variants in\n                    <jats:italic>EFTUD2<\/jats:italic>\n                    and\n                    <jats:italic>TXNL4A<\/jats:italic>\n                    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 (\n                    <jats:italic>PRPF6<\/jats:italic>\n                    ,\n                    <jats:italic>PRPF8<\/jats:italic>\n                    ,\n                    <jats:italic>EFTUD2<\/jats:italic>\n                    ,\n                    <jats:italic>DDX23<\/jats:italic>\n                    , and\n                    <jats:italic>SNRNP40<\/jats:italic>\n                    ) 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 \u2013 RP, craniofacial defects or cancer \u2013 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.\n                  <\/jats:p>","DOI":"10.3389\/fgene.2021.636620","type":"journal-article","created":{"date-parts":[[2021,1,28]],"date-time":"2021-01-28T10:30:29Z","timestamp":1611829829000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":50,"title":["The Role of the U5 snRNP in Genetic Disorders and Cancer"],"prefix":"10.3389","volume":"12","author":[{"given":"Katherine A.","family":"Wood","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Megan A.","family":"Eadsforth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William G.","family":"Newman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raymond T.","family":"O\u2019Keefe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2021,1,28]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"6756","DOI":"10.1128\/mcb.18.11.6756","article-title":"The human U5-220kD protein (hPrp8) forms a stable RNA-free complex with several U5-specific proteins, including an RNA unwindase, a homologue of ribosomal elongation factor EF-2, and a novel WD-40 protein.","volume":"18","author":"Achsel","year":"1998","journal-title":"Mol. 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