دورية أكاديمية
أعرض في EDS

SMCHD1 has separable roles in chromatin architecture and gene silencing that could be targeted in disease.

التفاصيل البيبلوغرافية
العنوان: SMCHD1 has separable roles in chromatin architecture and gene silencing that could be targeted in disease.
المؤلفون: Tapia Del Fierro A; The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, Australia.; The Department of Medical Biology, University of Melbourne, Melbourne, VIC, Australia., den Hamer B; Department of Human Genetics, Leiden University Medical Center, Leiden, Netherlands., Benetti N; The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, Australia.; The Department of Medical Biology, University of Melbourne, Melbourne, VIC, Australia., Jansz N; The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, Australia.; The Department of Medical Biology, University of Melbourne, Melbourne, VIC, Australia., Chen K; The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, Australia.; The Department of Medical Biology, University of Melbourne, Melbourne, VIC, Australia., Beck T; The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, Australia., Vanyai H; Crick Advanced Light Microscopy Facility, The Francis Crick Institute, London, UK., Gurzau AD; The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, Australia.; The Department of Medical Biology, University of Melbourne, Melbourne, VIC, Australia., Daxinger L; Queensland Institute of Medical Research, Brisbane, QLD, Australia., Xue S; Department of Biological Sciences, National University of Singapore, Singapore, Singapore.; Institute of Molecular and Cell Biology, A*STAR, Singapore, Singapore., Ly TTN; Department of Biological Sciences, National University of Singapore, Singapore, Singapore.; Institute of Molecular and Cell Biology, A*STAR, Singapore, Singapore., Wanigasuriya I; The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, Australia.; The Department of Medical Biology, University of Melbourne, Melbourne, VIC, Australia., Iminitoff M; The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, Australia.; The Department of Medical Biology, University of Melbourne, Melbourne, VIC, Australia., Breslin K; The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, Australia., Oey H; Queensland Institute of Medical Research, Brisbane, QLD, Australia., Krom YD; Department of Human Genetics, Leiden University Medical Center, Leiden, Netherlands., van der Hoorn D; Department of Human Genetics, Leiden University Medical Center, Leiden, Netherlands., Bouwman LF; Department of Human Genetics, Leiden University Medical Center, Leiden, Netherlands., Johanson TM; The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, Australia.; The Department of Medical Biology, University of Melbourne, Melbourne, VIC, Australia., Ritchie ME; The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, Australia.; The Department of Medical Biology, University of Melbourne, Melbourne, VIC, Australia., Gouil QA; The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, Australia.; The Department of Medical Biology, University of Melbourne, Melbourne, VIC, Australia., Reversade B; Institute of Molecular and Cell Biology, A*STAR, Singapore, Singapore.; Genome Institute of Singapore, A*STAR, Singapore, Singapore., Prin F; Crick Advanced Light Microscopy Facility, The Francis Crick Institute, London, UK., Mohun T; Crick Advanced Light Microscopy Facility, The Francis Crick Institute, London, UK., van der Maarel SM; Department of Human Genetics, Leiden University Medical Center, Leiden, Netherlands., McGlinn E; EMBL Australia, Monash University, Clayton, VIC, Australia.; Australian Regenerative Medicine Institute, Monash University, Clayton, VIC, Australia., Murphy JM; The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, Australia.; The Department of Medical Biology, University of Melbourne, Melbourne, VIC, Australia.; Drug Discovery Biology, Monash Institute of Pharmaceutical Sciences, Monash University, Parkville, VIC, Australia., Keniry A; The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, Australia.; The Department of Medical Biology, University of Melbourne, Melbourne, VIC, Australia., de Greef JC; Department of Human Genetics, Leiden University Medical Center, Leiden, Netherlands., Blewitt ME; The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, Australia. blewitt@wehi.edu.au.; The Department of Medical Biology, University of Melbourne, Melbourne, VIC, Australia. blewitt@wehi.edu.au.
المصدر: Nature communications [Nat Commun] 2023 Sep 25; Vol. 14 (1), pp. 5466. Date of Electronic Publication: 2023 Sep 25.
نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
اللغة: English
بيانات الدورية: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE
أسماء مطبوعة: Original Publication: [London] : Nature Pub. Group
مواضيع طبية MeSH: Chromatin*/genetics , Muscular Dystrophy, Facioscapulohumeral*/genetics , Chromosomal Proteins, Non-Histone*/genetics, Animals ; Mice ; Epigenomics ; Gene Silencing ; Genes, Homeobox
مستخلص: The interplay between 3D chromatin architecture and gene silencing is incompletely understood. Here, we report a novel point mutation in the non-canonical SMC protein SMCHD1 that enhances its silencing capacity at endogenous developmental targets. Moreover, it also results in enhanced silencing at the facioscapulohumeral muscular dystrophy associated macrosatellite-array, D4Z4, resulting in enhanced repression of DUX4 encoded by this repeat. Heightened SMCHD1 silencing perturbs developmental Hox gene activation, causing a homeotic transformation in mice. Paradoxically, the mutant SMCHD1 appears to enhance insulation against other epigenetic regulators, including PRC2 and CTCF, while depleting long range chromatin interactions akin to what is observed in the absence of SMCHD1. These data suggest that SMCHD1's role in long range chromatin interactions is not directly linked to gene silencing or insulating the chromatin, refining the model for how the different levels of SMCHD1-mediated chromatin regulation interact to bring about gene silencing in normal development and disease.
(© 2023. Springer Nature Limited.)
References: Cell. 2018 Jul 12;174(2):406-421.e25. (PMID: 29887375)
Bioinformatics. 2010 Jan 1;26(1):139-40. (PMID: 19910308)
Proc Natl Acad Sci U S A. 2015 Sep 1;112(35):E4884-93. (PMID: 26283362)
Genom Data. 2016 Oct 06;10:97-100. (PMID: 27766205)
Biochem J. 2016 Mar 15;473(6):733-42. (PMID: 26733688)
Epigenetics Chromatin. 2018 Aug 20;11(1):47. (PMID: 30122154)
Trends Genet. 2017 Apr;33(4):233-243. (PMID: 28222895)
BMC Bioinformatics. 2015 Aug 19;16:258. (PMID: 26283514)
Nucleic Acids Res. 2014 Jun;42(11):e95. (PMID: 24852250)
Mol Cell Biol. 2015 Dec;35(23):4053-68. (PMID: 26391951)
Biochem J. 2021 Jul 16;478(13):2555-2569. (PMID: 34109974)
Nat Commun. 2019 Jul 3;10(1):2950. (PMID: 31270318)
Nat Rev Genet. 2005 Jul;6(7):557-67. (PMID: 15951745)
Nat Genet. 2017 Feb;49(2):238-248. (PMID: 28067909)
Cold Spring Harb Perspect Biol. 2013 Aug 01;5(8):a017780. (PMID: 23906716)
Nucleic Acids Res. 2002 Jan 1;30(1):207-10. (PMID: 11752295)
Nat Methods. 2018 Jun;15(6):461-468. (PMID: 29713083)
Nat Protoc. 2006;1(1):179-85. (PMID: 17406230)
Mol Cell Biol. 2013 Aug;33(16):3150-65. (PMID: 23754746)
PLoS One. 2016 Jul 28;11(7):e0160022. (PMID: 27467759)
Cell. 2014 Dec 18;159(7):1665-80. (PMID: 25497547)
Neurology. 2013 Jan 22;80(4):392-9. (PMID: 23284062)
Cell Syst. 2016 Jul;3(1):95-8. (PMID: 27467249)
Nat Commun. 2019 Jan 3;10(1):30. (PMID: 30604745)
Proc Natl Acad Sci U S A. 2005 May 24;102(21):7629-34. (PMID: 15890782)
Biochem J. 2016 Jun 15;473(12):1733-44. (PMID: 27059856)
J Med Genet. 2016 May;53(5):348-55. (PMID: 26831754)
Epigenetics. 2012 Jun 1;7(6):579-84. (PMID: 22522912)
Genome Biol. 2016 Jun 06;17(1):122. (PMID: 27268795)
Cell Syst. 2018 Feb 28;6(2):256-258.e1. (PMID: 29428417)
Cold Spring Harb Perspect Biol. 2015 Jul 01;7(7):a018770. (PMID: 26134317)
Methods Mol Biol. 2011;770:259-92. (PMID: 21805268)
Science. 2010 Sep 24;329(5999):1650-3. (PMID: 20724583)
Nat Biotechnol. 2019 Aug;37(8):907-915. (PMID: 31375807)
Cold Spring Harb Perspect Biol. 2014 Dec 01;6(12):a019315. (PMID: 25452385)
Elife. 2020 Nov 13;9:. (PMID: 33186096)
Am J Hum Genet. 2013 Oct 3;93(4):744-51. (PMID: 24075187)
Nucleic Acids Res. 2015 Apr 20;43(7):e47. (PMID: 25605792)
Nucleic Acids Res. 2016 Mar 18;44(5):e45. (PMID: 26578583)
Nat Genet. 2000 May;25(1):25-9. (PMID: 10802651)
Science. 2003 Jul 18;301(5631):363-7. (PMID: 12869760)
Nat Commun. 2022 Jul 25;13(1):4295. (PMID: 35879318)
Cold Spring Harb Protoc. 2012 Jun 01;2012(6):678-80. (PMID: 22661437)
Nat Genet. 2017 Jan 31;49(2):176-178. (PMID: 28138148)
Nat Methods. 2012 Jun 28;9(7):676-82. (PMID: 22743772)
Cell Death Differ. 2017 Oct;24(10):1821-1822. (PMID: 28753205)
Cell. 2006 Apr 21;125(2):315-26. (PMID: 16630819)
Genes Dev. 2020 Jul 1;34(13-14):931-949. (PMID: 32439634)
Nat Protoc. 2021 Apr;16(4):2257-2285. (PMID: 33837305)
Nat Genet. 2017 Feb;49(2):249-255. (PMID: 28067911)
Nat Genet. 2008 May;40(5):663-9. (PMID: 18425126)
Cell. 2017 May 18;169(5):930-944.e22. (PMID: 28525758)
Biochem Soc Trans. 2020 Aug 28;48(4):1751-1763. (PMID: 32779700)
Genome Biol. 2013;14(9):R96. (PMID: 24025402)
Genes Dev. 2017 Nov 15;31(22):2264-2281. (PMID: 29273679)
Methods Mol Biol. 2014;1130:113-121. (PMID: 24482169)
Genes Dev. 2014 Oct 1;28(19):2151-62. (PMID: 25274727)
Genome Biol. 2008;9(12):R182. (PMID: 19099580)
Development. 2007 Aug;134(16):2981-9. (PMID: 17626057)
BMC Biol. 2019 Jul 12;17(1):55. (PMID: 31299961)
J Biol Chem. 2018 Jun 22;293(25):9841-9853. (PMID: 29748383)
Genome Biol. 2012 Oct 03;13(10):R87. (PMID: 23034086)
Nat Struct Mol Biol. 2018 Sep;25(9):766-777. (PMID: 30127357)
Genome Biol. 2014 Feb 03;15(2):R29. (PMID: 24485249)
Nat Methods. 2012 Mar 04;9(4):357-9. (PMID: 22388286)
Epigenetics. 2015;10(12):1133-42. (PMID: 26575099)
PLoS Genet. 2013 Apr;9(4):e1003415. (PMID: 23593020)
J Med Genet. 2019 Oct;56(10):693-700. (PMID: 31243061)
Nat Cell Biol. 2019 Sep;21(9):1164-1172. (PMID: 31481796)
Methods Mol Biol. 2009;482:319-30. (PMID: 19089365)
PLoS One. 2016 Jan 22;11(1):e0146019. (PMID: 26800342)
Neurology. 2019 May 7;92(19):e2273-e2285. (PMID: 30979860)
Cell Rep. 2018 Nov 13;25(7):1912-1923.e9. (PMID: 30428357)
PLoS Comput Biol. 2017 Jul 19;13(7):e1005665. (PMID: 28723903)
Proc Natl Acad Sci U S A. 2015 Jul 7;112(27):E3535-44. (PMID: 26091879)
Epigenetics Chromatin. 2013 Jul 02;6(1):19. (PMID: 23819640)
J Med Genet. 2019 Dec;56(12):828-837. (PMID: 31676591)
Dev Cell. 2012 Aug 14;23(2):265-79. (PMID: 22841499)
Nat Methods. 2015 Apr;12(4):357-60. (PMID: 25751142)
Hum Mol Genet. 2018 Feb 15;27(4):716-731. (PMID: 29281018)
PLoS Genet. 2009 Jul;5(7):e1000559. (PMID: 19593370)
Bioinformatics. 2011 Jun 1;27(11):1571-2. (PMID: 21493656)
Sci Signal. 2020 Jun 16;13(636):. (PMID: 32546545)
Hum Mol Genet. 1996 Dec;5(12):1997-2003. (PMID: 8968754)
F1000Res. 2015 Nov 20;4:1310. (PMID: 26835000)
Bioinformatics. 2009 Aug 15;25(16):2078-9. (PMID: 19505943)
Neurology. 2018 Aug 7;91(6):e562-e570. (PMID: 29980640)
Stat Appl Genet Mol Biol. 2004;3:Article3. (PMID: 16646809)
Am J Hum Genet. 2007 Aug;81(2):264-79. (PMID: 17668377)
Nat Genet. 2012 Dec;44(12):1370-4. (PMID: 23143600)
J Cardiovasc Dev Dis. 2018 Dec 15;5(4):. (PMID: 30558275)
J Appl Crystallogr. 2012 Mar 15;45(Pt 2):342-350. (PMID: 25484842)
Semin Cell Dev Biol. 2003 Feb;14(1):67-75. (PMID: 12524009)
Sci Rep. 2021 Dec 8;11(1):23642. (PMID: 34880314)
PLoS Biol. 2008 Apr 15;6(4):e93. (PMID: 18416604)
Curr Biol. 2003 May 27;13(11):955-9. (PMID: 12781134)
معلومات مُعتمدة: R01 AR066248 United States AR NIAMS NIH HHS
المشرفين على المادة: 0 (Chromatin)
0 (SmcHD1 protein, mouse)
0 (Chromosomal Proteins, Non-Histone)
تواريخ الأحداث: Date Created: 20230925 Date Completed: 20230929 Latest Revision: 20240212
رمز التحديث: 20240212
مُعرف محوري في PubMed: PMC10519958
DOI: 10.1038/s41467-023-40992-6
PMID: 37749075
قاعدة البيانات: MEDLINE
الوصف
تدمد:2041-1723
DOI:10.1038/s41467-023-40992-6