دورية أكاديمية
أعرض في EDS

CircHTT(2,3,4,5,6) - co-evolving with the HTT CAG-repeat tract - modulates Huntington's disease phenotypes.

التفاصيل البيبلوغرافية
العنوان: CircHTT(2,3,4,5,6) - co-evolving with the HTT CAG-repeat tract - modulates Huntington's disease phenotypes.
المؤلفون: Morandell J; NeuroEpigenetics Laboratory, Department of Cellular, Computational, and Integrative Biology - CIBIO, University of Trento, 38123 Trento, Italy., Monziani A; NeuroEpigenetics Laboratory, Department of Cellular, Computational, and Integrative Biology - CIBIO, University of Trento, 38123 Trento, Italy., Lazioli M; NeuroEpigenetics Laboratory, Department of Cellular, Computational, and Integrative Biology - CIBIO, University of Trento, 38123 Trento, Italy., Donzel D; Institute of Biophysics Unit at Trento, National Research Council - CNR, 38123 Trento, Italy., Döring J; NeuroEpigenetics Laboratory, Department of Cellular, Computational, and Integrative Biology - CIBIO, University of Trento, 38123 Trento, Italy., Oss Pegorar C; NeuroEpigenetics Laboratory, Department of Cellular, Computational, and Integrative Biology - CIBIO, University of Trento, 38123 Trento, Italy., D'Anzi A; Cellular Reprogramming Unit Fondazione IRCCS, Casa Sollievo Della Sofferenza, Viale dei Cappuccini 1, 71013 San Giovanni Rotondo, FG, Italy., Pellegrini M; NeuroEpigenetics Laboratory, Department of Cellular, Computational, and Integrative Biology - CIBIO, University of Trento, 38123 Trento, Italy., Mattiello A; NeuroEpigenetics Laboratory, Department of Cellular, Computational, and Integrative Biology - CIBIO, University of Trento, 38123 Trento, Italy., Bortolotti D; NeuroEpigenetics Laboratory, Department of Cellular, Computational, and Integrative Biology - CIBIO, University of Trento, 38123 Trento, Italy., Bergonzoni G; NeuroEpigenetics Laboratory, Department of Cellular, Computational, and Integrative Biology - CIBIO, University of Trento, 38123 Trento, Italy., Tripathi T; NeuroEpigenetics Laboratory, Department of Cellular, Computational, and Integrative Biology - CIBIO, University of Trento, 38123 Trento, Italy., Mattis VB; Board of Governor's Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA., Kovalenko M; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA., Rosati J; Cellular Reprogramming Unit Fondazione IRCCS, Casa Sollievo Della Sofferenza, Viale dei Cappuccini 1, 71013 San Giovanni Rotondo, FG, Italy., Dieterich C; Section of Bioinformatics and Systems Cardiology, University Hospital Heidelberg, 69120 Heidelberg, Germany., Dassi E; Laboratory of RNA Regulatory Networks, Department of Cellular, Computational, and Integrative Biology - CIBIO, University of Trento, 38123 Trento, Italy., Wheeler VC; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA., Ellederová Z; Research Center PIGMOD, Institute of Animal Physiology and Genetics, Czech Academy of Science, 277 21 Libechov, Czech Republic., Wilusz JE; Verna and Marrs McLean Department of Biochemistry and Molecular Pharmacology, Therapeutic Innovation Center, Baylor College of Medicine, Houston, TX 77030, USA., Viero G; Institute of Biophysics Unit at Trento, National Research Council - CNR, 38123 Trento, Italy., Biagioli M; NeuroEpigenetics Laboratory, Department of Cellular, Computational, and Integrative Biology - CIBIO, University of Trento, 38123 Trento, Italy.
المصدر: Molecular therapy. Nucleic acids [Mol Ther Nucleic Acids] 2024 Jun 03; Vol. 35 (3), pp. 102234. Date of Electronic Publication: 2024 Jun 03 (Print Publication: 2024).
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 101581621 Publication Model: eCollection Cited Medium: Print ISSN: 2162-2531 (Print) Linking ISSN: 21622531 NLM ISO Abbreviation: Mol Ther Nucleic Acids Subsets: PubMed not MEDLINE
أسماء مطبوعة: Publication: 2017- : Cambridge, MA : Cell Press
Original Publication: New York, NY : Nature Pub. Group
مستخلص: Circular RNA (circRNA) molecules have critical functions during brain development and in brain-related disorders. Here, we identified and validated a circRNA, circHTT(2,3,4,5,6) , stemming from the Huntington's disease (HD) gene locus that is most abundant in the central nervous system (CNS). We uncovered its evolutionary conservation in diverse mammalian species, and a correlation between circHTT(2,3,4,5,6) levels and the length of the CAG-repeat tract in exon-1 of HTT in human and mouse HD model systems. The mouse orthologue, circHtt(2,3,4,5,6) , is expressed during embryogenesis, increases during nervous system development, and is aberrantly upregulated in the presence of the expanded CAG tract. While an IRES-like motif was predicted in circH TT (2,3,4,5,6) , the circRNA does not appear to be translated in adult mouse brain tissue. Nonetheless, a modest, but consistent fraction of circHtt(2,3,4,5,6) associates with the 40S ribosomal subunit, suggesting a possible role in the regulation of protein translation. Finally, c ircHtt(2,3,4,5,6) overexpression experiments in HD-relevant ST Hdh striatal cells revealed its ability to modulate CAG expansion-driven cellular defects in cell-to-substrate adhesion, thus uncovering an unconventional modifier of HD pathology.
Competing Interests: J.E.W. serves as a consultant for Laronde. V.C.W. was a founding scientific advisory board member with financial interest in Triplet Therapeutics Inc. Her financial interests were reviewed and are managed by Massachusetts General Hospital and Mass General Brigham in accordance with their conflict-of-interest policies. She is a scientific advisory board member of LoQus23 Therapeutics Ltd. and has provided paid consulting services to Acadia Pharmaceuticals Inc., Alnylam Inc., Biogen Inc., Passage Bio, and Rgenta Therapeutics. She has received research support from Pfizer Inc.
(© 2024 The Author(s).)
References: J Biol Chem. 2011 Jul 15;286(28):25236-45. (PMID: 21566141)
Essays Biochem. 2021 Oct 27;65(4):685-696. (PMID: 34028529)
Genome Res. 2002 Jun;12(6):996-1006. (PMID: 12045153)
Nat Protoc. 2012 Sep;7(9):1741-54. (PMID: 22936216)
Hum Mol Genet. 2000 Sep 1;9(14):2175-82. (PMID: 10958656)
Elife. 2020 Nov 11;9:. (PMID: 33174841)
Proc Natl Acad Sci U S A. 2013 Feb 5;110(6):2366-70. (PMID: 23341618)
Mol Biol Evol. 2008 Feb;25(2):330-8. (PMID: 18048403)
Biophys J. 2017 Oct 3;113(7):1585-1598. (PMID: 28844472)
RNA Biol. 2016;13(1):34-42. (PMID: 26669964)
Neuron. 2015 Jul 1;87(1):14-27. (PMID: 26139367)
Mol Cell. 2014 Oct 2;56(1):55-66. (PMID: 25242144)
Nat Struct Mol Biol. 2015 Mar;22(3):256-64. (PMID: 25664725)
Nat Rev Neurosci. 2007 Nov;8(11):819-31. (PMID: 17895907)
J Biol Chem. 2015 Dec 4;290(49):29603-16. (PMID: 26475861)
RNA. 2014 Nov;20(11):1666-70. (PMID: 25234927)
Science. 2017 Sep 22;357(6357):. (PMID: 28798046)
PLoS One. 2012;7(12):e49838. (PMID: 23284626)
Trends Biochem Sci. 2013 Aug;38(8):378-85. (PMID: 23768628)
Cytometry A. 2004 Oct;61(2):162-9. (PMID: 15382028)
Cell Death Differ. 2022 Feb;29(2):293-305. (PMID: 34974533)
Hum Mol Genet. 1998 Sep;7(9):1463-74. (PMID: 9700202)
Cell. 2022 Jun 9;185(12):2016-2034. (PMID: 35584701)
Biochem Biophys Res Commun. 2018 Sep 5;503(2):1027-1034. (PMID: 29944885)
Nucleic Acids Res. 2014 Jan;42(Database issue):D68-73. (PMID: 24275495)
J Biol Chem. 2006 Dec 29;281(52):40389-98. (PMID: 17074767)
Mol Cell. 2017 Apr 6;66(1):22-37.e9. (PMID: 28344082)
Hum Mol Genet. 1999 Jan;8(1):115-22. (PMID: 9887339)
Mol Cell. 2024 Feb 15;84(4):702-714.e10. (PMID: 38295802)
Nat Genet. 1997 Dec;17(4):404-10. (PMID: 9398841)
Hum Mol Genet. 2011 Sep 1;20(17):3467-77. (PMID: 21672921)
Mol Ther Nucleic Acids. 2023 Apr 07;32:402-414. (PMID: 37187707)
Adv Exp Med Biol. 2017;978:277-299. (PMID: 28523552)
Hum Mol Genet. 2016 Aug 15;25(16):3454-3466. (PMID: 27378699)
Cells. 2023 May 07;12(9):. (PMID: 37174737)
Nat Commun. 2022 Jun 29;13(1):3751. (PMID: 35768398)
Nat Protoc. 2014 Sep;9(9):2045-60. (PMID: 25079428)
Neuron. 2006 Oct 5;52(1):93-101. (PMID: 17015229)
EMBO Rep. 2021 Mar 3;22(3):e52072. (PMID: 33629517)
Sci Rep. 2017 Dec 4;7(1):16880. (PMID: 29203806)
Noncoding RNA. 2021 Aug 04;7(3):. (PMID: 34449657)
J Neurosci Res. 1998 Jul 15;53(2):223-34. (PMID: 9671979)
Mitochondrion. 2023 May;70:8-19. (PMID: 36906250)
Brain. 2011 Jan;134(Pt 1):137-42. (PMID: 20923788)
Mob Genet Elements. 2015 May 21;5(3):1-7. (PMID: 26442181)
Nat Methods. 2012 Jun 28;9(7):676-82. (PMID: 22743772)
Cell. 2014 Sep 11;158(6):1431-1443. (PMID: 25215497)
Nature. 2013 Jul 11;499(7457):172-7. (PMID: 23846655)
J Neurosci. 2004 Aug 18;24(33):7272-6. (PMID: 15317853)
PLoS One. 2012;7(1):e29809. (PMID: 22235343)
Nucleic Acids Res. 2014 Jan;42(Database issue):D92-7. (PMID: 24297251)
Nature. 2012 Nov 15;491(7424):454-7. (PMID: 23064229)
Methods Mol Biol. 2017;1648:143-154. (PMID: 28766295)
PLoS One. 2014 Jul 25;9(7):e103525. (PMID: 25061880)
Hum Mol Genet. 2000 Nov 22;9(19):2799-809. (PMID: 11092756)
Prog Neurobiol. 2020 Mar;186:101746. (PMID: 31931031)
Nucleic Acids Res. 2010 Dec;38(22):8370-6. (PMID: 20702420)
Nucleic Acids Res. 2003 Jul 1;31(13):3406-15. (PMID: 12824337)
J Mol Biol. 2014 Apr 3;426(7):1428-38. (PMID: 24389360)
Nature. 1995 Jan 19;373(6511):261-4. (PMID: 7816144)
Nat Cell Biol. 2023 Jan;25(1):1-5. (PMID: 36658223)
Nat Commun. 2021 Aug 10;12(1):4825. (PMID: 34376658)
Hum Mol Genet. 2011 Jun 15;20(12):2344-55. (PMID: 21447599)
Mol Cell. 2015 Jun 4;58(5):870-85. (PMID: 25921068)
Sci Rep. 2016 Dec 13;6:38907. (PMID: 27958329)
Nucleic Acids Res. 2011 Mar;39(5):1749-62. (PMID: 21051337)
PLoS One. 2013;8(3):e57932. (PMID: 23469253)
Mol Cell. 2021 Oct 21;81(20):4300-4318.e13. (PMID: 34437836)
Genome Biol. 2015 Nov 05;16:245. (PMID: 26541409)
Nature. 2013 Mar 21;495(7441):333-8. (PMID: 23446348)
Nat Methods. 2021 Jan;18(1):100-106. (PMID: 33318659)
Nat Cell Biol. 2015 Jul;17(7):880-92. (PMID: 26053221)
Biol Psychiatry. 2020 Feb 1;87(3):294-304. (PMID: 31570194)
Neurology. 2012 Aug 14;79(7):668-74. (PMID: 22815549)
Eur J Neurosci. 2008 Jun;27(11):2803-20. (PMID: 18588526)
Proc Natl Acad Sci U S A. 2010 Jul 20;107(29):12816-21. (PMID: 20616059)
Cell Rep. 2017 Nov 14;21(7):2005-2016. (PMID: 29141229)
Nat Cell Biol. 2020 Oct;22(10):1239-1251. (PMID: 32958857)
PLoS One. 2015 Oct 23;10(10):e0141298. (PMID: 26496077)
J Mol Med (Berl). 2017 Nov;95(11):1179-1189. (PMID: 28842720)
Wiley Interdiscip Rev Dev Biol. 2018 Jul;7(4):e316. (PMID: 29470839)
Am J Hum Genet. 2019 Jun 6;104(6):1116-1126. (PMID: 31104771)
Neuropsychopharmacology. 2008 Jan;33(1):3-17. (PMID: 17728700)
Sci Rep. 2020 Aug 20;10(1):14057. (PMID: 32820193)
Front Mol Biosci. 2018 Feb 12;5:12. (PMID: 29484299)
EMBO Rep. 2010 Dec;11(12):899. (PMID: 21102640)
RNA Biol. 2017 Mar 4;14(3):361-369. (PMID: 28080204)
Mol Neurobiol. 2023 Jun;60(6):3239-3260. (PMID: 36840844)
BMC Bioinformatics. 2006 Oct 25;7:474. (PMID: 17064419)
RNA. 2013 Feb;19(2):141-57. (PMID: 23249747)
Cell. 1993 Mar 26;72(6):971-83. (PMID: 8458085)
Proc Natl Acad Sci U S A. 2014 Oct 21;111(42):E4468-77. (PMID: 25294932)
PLoS Genet. 2023 Oct 13;19(10):e1010988. (PMID: 37831730)
EMBO J. 2021 Aug 2;40(15):e105740. (PMID: 34254686)
Nature. 2013 Mar 21;495(7441):384-8. (PMID: 23446346)
Hum Mol Genet. 2016 Sep 1;25(17):3654-3675. (PMID: 27378694)
Cell Rep. 2017 Oct 24;21(4):953-965. (PMID: 29069603)
Mol Cell. 2018 Aug 2;71(3):428-442. (PMID: 30057200)
PLoS One. 2014 Mar 07;9(6):e90859. (PMID: 24609083)
Cell Rep. 2016 Apr 19;15(3):611-624. (PMID: 27068474)
Cell Mol Life Sci. 2018 Mar;75(6):1071-1098. (PMID: 29116363)
Genes Dev. 2015 Oct 15;29(20):2168-82. (PMID: 26450910)
Proc Natl Acad Sci U S A. 2010 Jan 12;107(2):692-7. (PMID: 20080737)
Genome Biol. 2022 Jan 10;23(1):16. (PMID: 35012611)
BMC Dev Biol. 2007 Nov 15;7:127. (PMID: 18005438)
Nat Methods. 2021 Jan;18(1):51-59. (PMID: 33288960)
Hum Mol Genet. 2011 Feb 1;20(3):580-8. (PMID: 21088112)
Sci Rep. 2017 May 2;7(1):1307. (PMID: 28465506)
J Mol Biol. 2019 Apr 19;431(9):1869-1877. (PMID: 30711541)
Cell Discov. 2020 Aug 11;6:52. (PMID: 32818061)
Nat Methods. 2022 Jul;19(7):829-832. (PMID: 35654950)
Genome Biol. 2021 Mar 8;22(1):79. (PMID: 33685493)
J Biol Chem. 2002 Sep 6;277(36):32905-14. (PMID: 12095980)
Science. 2020 Aug 14;369(6505):787-793. (PMID: 32675289)
EMBO J. 2019 Aug 15;38(16):e100836. (PMID: 31343080)
Elife. 2015 Aug 12;4:. (PMID: 26267216)
معلومات مُعتمدة: R35 GM119735 United States GM NIGMS NIH HHS
فهرسة مساهمة: Keywords: CAG-repeat expansion; Huntington's disease; MT: Non-coding RNAs; Neurodegeneration; back-splicing; circRNA
تواريخ الأحداث: Date Created: 20240708 Latest Revision: 20240709
رمز التحديث: 20240709
مُعرف محوري في PubMed: PMC11225910
DOI: 10.1016/j.omtn.2024.102234
PMID: 38974999
قاعدة البيانات: MEDLINE
الوصف
تدمد:2162-2531
DOI:10.1016/j.omtn.2024.102234