articleNature GeneticsJan 1, 2026HYBRID OA

De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa

MQMathieu QuinodozKRKim RodenburgZCZuzana CvačkováKKKarolina KamińskaSESuzanne E. de Bruijn

University of Leicester · University of Basel · +129 more institutions

PubMed
Indexed incrossrefpubmed

Abstract

Small nuclear RNAs (snRNAs) combine with specific proteins to generate small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. U4 snRNA forms a duplex with U6 and, together with U5, contributes to the tri-snRNP spliceosomal complex. Variants in RNU4-2, which encodes U4, have recently been implicated in neurodevelopmental disorders. Here we show that heterozygous inherited and de novo variants in RNU4-2 and in four RNU6 paralogs (RNU6-1, RNU6-2, RNU6-8 and RNU6-9), which encode U6, recur in individuals with nonsyndromic retinitis pigmentosa (RP), a genetic disorder causing progressive blindness. These variants cluster within the three-way junction of the U4/U6 duplex, a site that…

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Topics & keywords

Topics
Keywords
  • RNA splicing
  • Small nuclear RNA
  • snRNP
  • Retinitis pigmentosa
  • Gene
  • Ribonucleoprotein
  • Mendelian inheritance
  • Small nuclear ribonucleoprotein
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