دورية أكاديمية
SMCHD1 has separable roles in chromatin architecture and gene silencing that could be targeted in disease.
العنوان: | SMCHD1 has separable roles in chromatin architecture and gene silencing that could be targeted in disease. |
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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.) |
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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 |
تدمد: | 2041-1723 |
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DOI: | 10.1038/s41467-023-40992-6 |