{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"institution":[{"name":"medRxiv"}],"indexed":{"date-parts":[[2026,6,19]],"date-time":"2026-06-19T16:26:25Z","timestamp":1781886385298,"version":"3.54.5"},"posted":{"date-parts":[[2025,1,6]]},"group-title":"Genetic and Genomic Medicine","reference-count":57,"publisher":"openRxiv","license":[{"start":{"date-parts":[[2025,1,6]],"date-time":"2025-01-06T00:00:00Z","timestamp":1736121600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"accepted":{"date-parts":[[2025,1,6]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                <jats:p>\n                  The U4 small nuclear RNA (snRNA) forms a duplex with the U6 snRNA and, together with U5 and \u223c30 proteins, is part of the U4\/U6.U5 tri-snRNP complex, located at the core of the major spliceosome. Recently, recurrent\n                  <jats:italic>de novo<\/jats:italic>\n                  variants in the U4 RNA, transcribed from the\n                  <jats:italic>RNU4-2<\/jats:italic>\n                  gene, and in at least two other\n                  <jats:italic>RNU<\/jats:italic>\n                  genes were discovered to cause neurodevelopmental disorder. We detected inherited and\n                  <jats:italic>de novo<\/jats:italic>\n                  heterozygous variants in\n                  <jats:italic>RNU4-2<\/jats:italic>\n                  (n.18_19insA and n.56T&gt;C) and in four out of the five\n                  <jats:italic>RNU6<\/jats:italic>\n                  paralogues (n.55_56insG and n.56_57insG) in 135 individuals from 62 families with non-syndromic retinitis pigmentosa (RP), a rare form of hereditary blindness. We show that these variants are recurrent among RP families and invariably cluster in close proximity within the three-way junction (between stem-I, the 5\u2019 stem-loop and stem-II) of the U4\/U6 duplex, affecting its natural conformation. Interestingly, this region binds to numerous splicing factors of the tri-snRNP complex including PRPF3, PRPF8 and PRPF31, previously associated with RP as well. The U4 and U6 variants identified seem to affect snRNP biogenesis, namely the U4\/U6 di-snRNP, which is an assembly intermediate of the tri-snRNP. Based on the number of positive cases observed, deleterious variants in\n                  <jats:italic>RNU4-2<\/jats:italic>\n                  and in\n                  <jats:italic>RNU6<\/jats:italic>\n                  paralogues could be a significant cause of isolated or dominant RP, accounting for up to 1.2% of all undiagnosed RP cases. This study highlights the role of non-coding genes in rare Mendelian disorders and uncovers pleiotropy in\n                  <jats:italic>RNU4-2<\/jats:italic>\n                  , where different variants underlie neurodevelopmental disorder and RP.\n                <\/jats:p>","DOI":"10.1101\/2025.01.06.24317169","type":"posted-content","created":{"date-parts":[[2025,1,6]],"date-time":"2025-01-06T23:35:18Z","timestamp":1736206518000},"source":"Crossref","is-referenced-by-count":13,"title":["De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa"],"prefix":"10.64898","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9841-4433","authenticated-orcid":false,"given":"Mathieu","family":"Quinodoz","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0389-1518","authenticated-orcid":false,"given":"Kim","family":"Rodenburg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7430-2728","authenticated-orcid":false,"given":"Zuzana","family":"Cvackova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4720-5527","authenticated-orcid":false,"given":"Karolina","family":"Kaminska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2912-9265","authenticated-orcid":false,"given":"Suzanne E","family":"de 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