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U1 snRNA Gene Mutation

MedGen UID:
1817683
•Concept ID:
C5708778
•
Cell or Molecular Dysfunction
Synonyms: RNA, U1 Small Nuclear Gene Mutation; RNU1 Gene Mutation; Small Nuclear RNA U1 Gene Mutation; snRNA U1 Gene Mutation; U1 Gene Mutation; U1 Small Nuclear RNA Gene Mutation; U1 Spliceosomal RNA Gene Mutation

Definition

A change in the nucleotide sequence of the U1 snRNA gene. [from NCI]

Professional guidelines

PubMed

A patient-based model of RNA mis-splicing uncovers treatment targets in Parkinson's disease.
Boussaad I, Obermaier CD, Hanss Z, Bobbili DR, Bolognin S, Glaab E, Wołyńska K, Weisschuh N, De Conti L, May C, Giesert F, Grossmann D, Lambert A, Kirchen S, Biryukov M, Burbulla LF, Massart F, Bohler J, Cruciani G, Schmid B, Kurz-Drexler A, May P, Duga S, Klein C, Schwamborn JC, Marcus K, Woitalla D, Vogt Weisenhorn DM, Wurst W, Baralle M, Krainc D, Gasser T, Wissinger B, Krüger R
Sci Transl Med 2020 Sep 9;12(560) doi: 10.1126/scitranslmed.aau3960. PMID: 32908004

Recent clinical studies

Etiology

Rescue of common exon-skipping mutations in cystic fibrosis with modified U1 snRNAs.
Donegà S, Rogalska ME, Pianigiani G, Igreja S, Amaral MD, Pagani F
Hum Mutat 2020 Dec;41(12):2143-2154. Epub 2020 Oct 14 doi: 10.1002/humu.24116. PMID: 32935393
Exon-Specific U1s Correct SPINK5 Exon 11 Skipping Caused by a Synonymous Substitution that Affects a Bifunctional Splicing Regulatory Element.
Dal Mas A, Fortugno P, Donadon I, Levati L, Castiglia D, Pagani F
Hum Mutat 2015 May;36(5):504-12. Epub 2015 Mar 19 doi: 10.1002/humu.22762. PMID: 25665175
Determinants of the inherent strength of human 5' splice sites.
Roca X, Sachidanandam R, Krainer AR
RNA 2005 May;11(5):683-98. doi: 10.1261/rna.2040605. PMID: 15840817Free PMC Article
Induced HMGA1a expression causes aberrant splicing of Presenilin-2 pre-mRNA in sporadic Alzheimer's disease.
Manabe T, Katayama T, Sato N, Gomi F, Hitomi J, Yanagita T, Kudo T, Honda A, Mori Y, Matsuzaki S, Imaizumi K, Mayeda A, Tohyama M
Cell Death Differ 2003 Jun;10(6):698-708. doi: 10.1038/sj.cdd.4401221. PMID: 12761578
Adenovirus type 12-induced fragility of the human RNU2 locus requires p53 function.
Li Z, Yu A, Weiner AM
J Virol 1998 May;72(5):4183-91. doi: 10.1128/JVI.72.5.4183-4191.1998. PMID: 9557707Free PMC Article

Diagnosis

Pathogenicity analysis and splicing rescue of a classical splice site variant (c.1343+1G>T) of CNOT1 gene associated with neurodevelopmental disorders.
Dong Y, Li W, Meng J, Wang P, Sun M, Zhou F, Li D, Shu J, Cai C
Am J Med Genet A 2023 Nov;191(11):2775-2782. Epub 2023 Jul 28 doi: 10.1002/ajmg.a.63360. PMID: 37507849
Splicing Mutations Impairing CDKL5 Expression and Activity Can be Efficiently Rescued by U1snRNA-Based Therapy.
Balestra D, Giorgio D, Bizzotto M, Fazzari M, Ben Zeev B, Pinotti M, Landsberger N, Frasca A
Int J Mol Sci 2019 Aug 24;20(17) doi: 10.3390/ijms20174130. PMID: 31450582Free PMC Article
Exon 45 skipping through U1-snRNA antisense molecules recovers the Dys-nNOS pathway and muscle differentiation in human DMD myoblasts.
Cazzella V, Martone J, Pinnarò C, Santini T, Twayana SS, Sthandier O, D'Amico A, Ricotti V, Bertini E, Muntoni F, Bozzoni I
Mol Ther 2012 Nov;20(11):2134-42. Epub 2012 Sep 11 doi: 10.1038/mt.2012.178. PMID: 22968481Free PMC Article
U1 snRNA-mediated gene therapeutic correction of splice defects caused by an exceptionally mild BBS mutation.
Schmid F, Glaus E, Barthelmes D, Fliegauf M, Gaspar H, Nürnberg G, Nürnberg P, Omran H, Berger W, Neidhardt J
Hum Mutat 2011 Jul;32(7):815-24. doi: 10.1002/humu.21509. PMID: 21520335
U1 snRNA mis-binding: a new cause of CMT1B.
Crehalet H, Latour P, Bonnet V, Attarian S, Labauge P, Bonello N, Bernard R, Millat G, Rousson R, Bozon D
Neurogenetics 2010 Feb;11(1):13-9. Epub 2009 May 28 doi: 10.1007/s10048-009-0199-8. PMID: 19475438

Therapy

Exon-specific U1 snRNAs improve ELP1 exon 20 definition and rescue ELP1 protein expression in a familial dysautonomia mouse model.
Donadon I, Pinotti M, Rajkowska K, Pianigiani G, Barbon E, Morini E, Motaln H, Rogelj B, Mingozzi F, Slaugenhaupt SA, Pagani F
Hum Mol Genet 2018 Jul 15;27(14):2466-2476. doi: 10.1093/hmg/ddy151. PMID: 29701768Free PMC Article
Exploring Splicing-Switching Molecules For Seckel Syndrome Therapy.
Scalet D, Balestra D, Rohban S, Bovolenta M, Perrone D, Bernardi F, Campaner S, Pinotti M
Biochim Biophys Acta Mol Basis Dis 2017 Jan;1863(1):15-20. Epub 2016 Sep 14 doi: 10.1016/j.bbadis.2016.09.011. PMID: 27639833
Mutation-adapted U1 snRNA corrects a splicing error of the dopa decarboxylase gene.
Lee NC, Lee YM, Chen PW, Byrne BJ, Hwu WL
Hum Mol Genet 2016 Dec 1;25(23):5142-5147. doi: 10.1093/hmg/ddw323. PMID: 27658936
RNA-based therapeutic approaches for coagulation factor deficiencies.
Pinotti M, Bernardi F, Dal Mas A, Pagani F
J Thromb Haemost 2011 Nov;9(11):2143-52. doi: 10.1111/j.1538-7836.2011.04481.x. PMID: 21854538
The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences.
Krawczak M, Reiss J, Cooper DN
Hum Genet 1992 Sep-Oct;90(1-2):41-54. doi: 10.1007/BF00210743. PMID: 1427786

Prognosis

The U1 spliceosomal RNA is recurrently mutated in multiple cancers.
Shuai S, Suzuki H, Diaz-Navarro A, Nadeu F, Kumar SA, Gutierrez-Fernandez A, Delgado J, Pinyol M, López-Otín C, Puente XS, Taylor MD, Campo E, Stein LD
Nature 2019 Oct;574(7780):712-716. Epub 2019 Oct 9 doi: 10.1038/s41586-019-1651-z. PMID: 31597163
High-throughput analysis revealed mutations' diverging effects on SMN1 exon 7 splicing.
Souček P, Réblová K, Kramárek M, Radová L, Grymová T, Hujová P, Kováčová T, Lexa M, Grodecká L, Freiberger T
RNA Biol 2019 Oct;16(10):1364-1376. Epub 2019 Jun 19 doi: 10.1080/15476286.2019.1630796. PMID: 31213135Free PMC Article
Context matters: Regulation of splice donor usage.
Ptok J, Müller L, Theiss S, Schaal H
Biochim Biophys Acta Gene Regul Mech 2019 Nov-Dec;1862(11-12):194391. Epub 2019 Jun 13 doi: 10.1016/j.bbagrm.2019.06.002. PMID: 31202784
A novel role of U1 snRNP: Splice site selection from a distance.
Singh RN, Singh NN
Biochim Biophys Acta Gene Regul Mech 2019 Jun;1862(6):634-642. Epub 2019 Apr 28 doi: 10.1016/j.bbagrm.2019.04.004. PMID: 31042550Free PMC Article
Exploring Splicing-Switching Molecules For Seckel Syndrome Therapy.
Scalet D, Balestra D, Rohban S, Bovolenta M, Perrone D, Bernardi F, Campaner S, Pinotti M
Biochim Biophys Acta Mol Basis Dis 2017 Jan;1863(1):15-20. Epub 2016 Sep 14 doi: 10.1016/j.bbadis.2016.09.011. PMID: 27639833

Clinical prediction guides

Modeling splicing outcome by combining 5'ss strength and splicing regulatory elements.
Müller L, Ptok J, Nisar A, Antemann J, Grothmann R, Hillebrand F, Brillen AL, Ritchie A, Theiss S, Schaal H
Nucleic Acids Res 2022 Aug 26;50(15):8834-8851. doi: 10.1093/nar/gkac663. PMID: 35947702Free PMC Article
High-throughput analysis revealed mutations' diverging effects on SMN1 exon 7 splicing.
Souček P, Réblová K, Kramárek M, Radová L, Grymová T, Hujová P, Kováčová T, Lexa M, Grodecká L, Freiberger T
RNA Biol 2019 Oct;16(10):1364-1376. Epub 2019 Jun 19 doi: 10.1080/15476286.2019.1630796. PMID: 31213135Free PMC Article
Context matters: Regulation of splice donor usage.
Ptok J, Müller L, Theiss S, Schaal H
Biochim Biophys Acta Gene Regul Mech 2019 Nov-Dec;1862(11-12):194391. Epub 2019 Jun 13 doi: 10.1016/j.bbagrm.2019.06.002. PMID: 31202784
A novel role of U1 snRNP: Splice site selection from a distance.
Singh RN, Singh NN
Biochim Biophys Acta Gene Regul Mech 2019 Jun;1862(6):634-642. Epub 2019 Apr 28 doi: 10.1016/j.bbagrm.2019.04.004. PMID: 31042550Free PMC Article
Exploring Splicing-Switching Molecules For Seckel Syndrome Therapy.
Scalet D, Balestra D, Rohban S, Bovolenta M, Perrone D, Bernardi F, Campaner S, Pinotti M
Biochim Biophys Acta Mol Basis Dis 2017 Jan;1863(1):15-20. Epub 2016 Sep 14 doi: 10.1016/j.bbadis.2016.09.011. PMID: 27639833

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