Spliceosomopathies: Diseases and mechanisms

Research output: Contribution to journalReview articlepeer-review


The spliceosome is a complex of RNA and proteins that function together to identify intron-exon junctions in precursor messenger-RNAs, splice out the introns, and join the flanking exons. Mutations in any one of the genes encoding the proteins that make up the spliceosome may result in diseases known as spliceosomopathies. While the spliceosome is active in all cell types, with the majority of the proteins presumably expressed ubiquitously, spliceosomopathies tend to be tissue-specific as a result of germ line or somatic mutations, with phenotypes affecting primarily the retina in retinitis pigmentosa, hematopoietic lineages in myelodysplastic syndromes, or the craniofacial skeleton in mandibulofacial dysostosis. Here we describe the major spliceosomopathies, review the proposed mechanisms underlying retinitis pigmentosa and myelodysplastic syndromes, and discuss how this knowledge may inform our understanding of craniofacial spliceosomopathies.

Original languageEnglish (US)
Pages (from-to)1038-1046
Number of pages9
JournalDevelopmental Dynamics
Issue number9
StatePublished - Sep 1 2020


  • mandibulofacial dysostosis
  • myelodysplastic syndromes
  • retinitis pigmentosa
  • spliceosome

ASJC Scopus subject areas

  • Developmental Biology


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