U5 spliceosomal RNA

U5 spliceosomal RNA
Identifiers
SymbolU5
RfamRF00020
Other data
RNA typeGene; snRNA; splicing
DomainEukaryota
GOGO:0000351 GO:0000353 GO:0005682 GO:0046540
SOSO:0000395
PDB structuresPDBe

U5 snRNA is a small nuclear RNA (snRNA) that participates in RNA splicing as a component of the spliceosome. It forms the U5 snRNP (small nuclear ribonucleoprotein) by associating with several proteins including Prp8 - the largest and most conserved protein in the spliceosome, Brr2 - a helicase required for spliceosome activation, Snu114, and the 7 Sm proteins.[1] U5 snRNA forms a coaxially-stacked series of helices that project into the active site of the spliceosome.[2][3] Loop 1, which caps this series of helices, forms 4-5 base pairs with the 5'-exon during the two chemical reactions of splicing.[4][5] This interaction appears to be especially important during step two of splicing, exon ligation.[6]

Medical relevance

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Specific heterozygous variants in RNU5B-1, a gene that encodes one of the functional homologs of U5 spliceosomal RNA in humans, cause an autosomal dominant Neurodevelopmental disorder with seizures and joint laxity (OMIM 621090) also called RNU5B-1 syndrome[7].

References

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  1. ^ Stevens SW, Barta I, Ge HY, Moore RE, Young MK, Lee TD, Abelson J (November 2001). "Biochemical and genetic analyses of the U5, U6, and U4/U6 x U5 small nuclear ribonucleoproteins from Saccharomyces cerevisiae". RNA. 7 (11): 1543–53. PMC 1370197. PMID 11720284.
  2. ^ Nguyen TH, Galej WP, Bai XC, Savva CG, Newman AJ, Scheres SH, Nagai K (July 2015). "The architecture of the spliceosomal U4/U6.U5 tri-snRNP". Nature. 523 (7558): 47–52. Bibcode:2015Natur.523...47N. doi:10.1038/nature14548. PMC 4536768. PMID 26106855.
  3. ^ Yan C, Hang J, Wan R, Huang M, Wong CC, Shi Y (September 2015). "Structure of a yeast spliceosome at 3.6-angstrom resolution". Science. 349 (6253): 1182–91. Bibcode:2015Sci...349.1182Y. doi:10.1126/science.aac7629. PMID 26292707. S2CID 22194712.
  4. ^ Newman AJ, Norman C (February 1992). "U5 snRNA interacts with exon sequences at 5' and 3' splice sites". Cell. 68 (4): 743–54. doi:10.1016/0092-8674(92)90149-7. PMID 1739979. S2CID 3328508.
  5. ^ Sontheimer EJ, Steitz JA (December 1993). "The U5 and U6 small nuclear RNAs as active site components of the spliceosome". Science. 262 (5142): 1989–96. Bibcode:1993Sci...262.1989S. doi:10.1126/science.8266094. PMID 8266094.
  6. ^ O'Keefe RT, Norman C, Newman AJ (August 1996). "The invariant U5 snRNA loop 1 sequence is dispensable for the first catalytic step of pre-mRNA splicing in yeast". Cell. 86 (4): 679–89. doi:10.1016/s0092-8674(00)80140-3. PMID 8752221. S2CID 17484887.
  7. ^ Jackson, Adam; Thaker, Nishi; Blakes, Alexander; Rice, Gillian; Griffiths-Jones, Sam; Balasubramanian, Meena; Campbell, Jennifer; Shannon, Nora; Choi, Jungmin; Hong, Juhyeon; Hunt, David; de Burca, Anna; Kim, Soo Yeon; Kim, Taekeun; Lee, Seungbok (2025-06-24). "Analysis of R-loop forming regions identifies RNU2-2 and RNU5B-1 as neurodevelopmental disorder genes". Nature Genetics. 57 (6): 1362–1366. doi:10.1038/s41588-025-02209-y. ISSN 1061-4036. PMC 12165836. PMID 40442284.

Further reading

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