دورية أكاديمية
SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatellite.
العنوان: | SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatellite. |
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المؤلفون: | Dion C; Aix Marseille Univ, INSERM MMG, Nerve and Muscle Department, Marseille, France., Roche S; Aix Marseille Univ, INSERM MMG, Nerve and Muscle Department, Marseille, France., Laberthonnière C; Aix Marseille Univ, INSERM MMG, Nerve and Muscle Department, Marseille, France., Broucqsault N; Aix Marseille Univ, INSERM MMG, Nerve and Muscle Department, Marseille, France., Mariot V; NIHR Biomedical Research Centre, University College London, Great Ormond Street Institute of Child Health and Great Ormond Street Hospital NHS Trust, 30 Guilford Street, London WC1N 1EH, UK., Xue S; Institute of Molecular and Cell Biology, A*STAR, Singapore. Institute of Medical Biology, A*STAR, Singapore., Gurzau AD; The Walter and Eliza Hall Institute of Medical Research, Melbourne, Australia; The Department of Medical Biology, University of Melbourne, Melbourne, Australia., Nowak A; Institut de Génétique Humaine UMR9002 CNRS-Université de Montpellier. France., Gordon CT; Laboratory of Embryology and Genetics of Human Malformation, INSERM UMR 1163, Institut Imagine, Paris, France.; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France., Gaillard MC; Aix Marseille Univ, INSERM MMG, Nerve and Muscle Department, Marseille, France., El-Yazidi C; Aix Marseille Univ, INSERM MMG, Nerve and Muscle Department, Marseille, France., Thomas M; Aix Marseille Univ, INSERM MMG, Nerve and Muscle Department, Marseille, France., Schlupp-Robaglia A; Aix Marseille Univ, INSERM MMG, Nerve and Muscle Department, Marseille, France.; Département de Génétique Médicale et Biologie Cellulaire, AP-HM, Hôpital de la Timone enfants, Marseille, France.; Centre de ressources biologiques, AP-HM, Hôpital de la Timone enfants, Marseille, France., Missirian C; Aix Marseille Univ, INSERM MMG, Nerve and Muscle Department, Marseille, France.; Département de Génétique Médicale et Biologie Cellulaire, AP-HM, Hôpital de la Timone enfants, Marseille, France., Malan V; Laboratory of Embryology and Genetics of Human Malformation, INSERM UMR 1163, Institut Imagine, Paris, France.; Département de Génétique, Hôpital Necker-Enfants Malades, AP-HP, Paris, France., Ratbi L; Centre de Génomique Humaine et Genopath, Faculté de Médecine et de Pharmacie, Université Mohammed V, 10100 Rabat, Morocco., Sefiani A; Centre de Génomique Humaine et Genopath, Faculté de Médecine et de Pharmacie, Université Mohammed V, 10100 Rabat, Morocco., Wollnik B; Institute of Human Genetics, University Medical Campus Göttingen, 37073 Göttingen, Germany., Binetruy B; Aix Marseille Univ, INSERM MMG, Nerve and Muscle Department, Marseille, France., Salort Campana E; Aix Marseille Univ, INSERM MMG, Nerve and Muscle Department, Marseille, France.; Centre de références pour les maladies neuromusculaires et la SLA, AP-HM, Hôpital de la Timone, Marseille, France., Attarian S; Aix Marseille Univ, INSERM MMG, Nerve and Muscle Department, Marseille, France.; Centre de références pour les maladies neuromusculaires et la SLA, AP-HM, Hôpital de la Timone, Marseille, France., Bernard R; Aix Marseille Univ, INSERM MMG, Nerve and Muscle Department, Marseille, France.; Département de Génétique Médicale et Biologie Cellulaire, AP-HM, Hôpital de la Timone enfants, Marseille, France., Nguyen K; Aix Marseille Univ, INSERM MMG, Nerve and Muscle Department, Marseille, France.; Département de Génétique Médicale et Biologie Cellulaire, AP-HM, Hôpital de la Timone enfants, Marseille, France., Amiel J; Laboratory of Embryology and Genetics of Human Malformation, INSERM UMR 1163, Institut Imagine, Paris, France.; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France.; Département de Génétique, Hôpital Necker-Enfants Malades, AP-HP, Paris, France., Dumonceaux J; NIHR Biomedical Research Centre, University College London, Great Ormond Street Institute of Child Health and Great Ormond Street Hospital NHS Trust, 30 Guilford Street, London WC1N 1EH, UK., Murphy JM; The Walter and Eliza Hall Institute of Medical Research, Melbourne, Australia; The Department of Medical Biology, University of Melbourne, Melbourne, Australia., Déjardin J; Institut de Génétique Humaine UMR9002 CNRS-Université de Montpellier. France., Blewitt ME; The Walter and Eliza Hall Institute of Medical Research, Melbourne, Australia; The Department of Medical Biology, University of Melbourne, Melbourne, Australia., Reversade B; Institute of Molecular and Cell Biology, A*STAR, Singapore. Institute of Medical Biology, A*STAR, Singapore.; Department of Paediatrics, National University of Singapore, Singapore, Singapore.; Medical Genetics Department, Koç University School of Medicine (KUSOM), Istanbul, Turkey.; Reproductive Biology Laboratory, Academic Medical Center (AMC), Amsterdam-Zuidoost, The Netherlands., Robin JD; Aix Marseille Univ, INSERM MMG, Nerve and Muscle Department, Marseille, France., Magdinier F; Aix Marseille Univ, INSERM MMG, Nerve and Muscle Department, Marseille, France. |
المصدر: | Nucleic acids research [Nucleic Acids Res] 2019 Apr 08; Vol. 47 (6), pp. 2822-2839. |
نوع المنشور: | Journal Article; Research Support, Non-U.S. Gov't |
اللغة: | English |
بيانات الدورية: | Publisher: Oxford University Press Country of Publication: England NLM ID: 0411011 Publication Model: Print Cited Medium: Internet ISSN: 1362-4962 (Electronic) Linking ISSN: 03051048 NLM ISO Abbreviation: Nucleic Acids Res Subsets: MEDLINE |
أسماء مطبوعة: | Publication: 1992- : Oxford : Oxford University Press Original Publication: London, Information Retrieval ltd. |
مواضيع طبية MeSH: | DNA Methylation*/genetics, Chromosomal Proteins, Non-Histone/*physiology , Homeodomain Proteins/*genetics , Microsatellite Repeats/*genetics, Cells, Cultured ; Cellular Reprogramming/genetics ; Choanal Atresia/genetics ; Choanal Atresia/metabolism ; Epigenesis, Genetic/genetics ; Gene Expression Regulation ; HCT116 Cells ; HEK293 Cells ; Homeodomain Proteins/metabolism ; Humans ; Male ; Microphthalmos/genetics ; Microphthalmos/metabolism ; Muscular Dystrophy, Facioscapulohumeral/genetics ; Muscular Dystrophy, Facioscapulohumeral/metabolism ; Muscular Dystrophy, Facioscapulohumeral/pathology ; Nose/abnormalities |
مستخلص: | The DNA methylation epigenetic signature is a key determinant during development. Rules governing its establishment and maintenance remain elusive especially at repetitive sequences, which account for the majority of methylated CGs. DNA methylation is altered in a number of diseases including those linked to mutations in factors that modify chromatin. Among them, SMCHD1 (Structural Maintenance of Chromosomes Hinge Domain Containing 1) has been of major interest following identification of germline mutations in Facio-Scapulo-Humeral Dystrophy (FSHD) and in an unrelated developmental disorder, Bosma Arhinia Microphthalmia Syndrome (BAMS). By investigating why germline SMCHD1 mutations lead to these two different diseases, we uncovered a role for this factor in de novo methylation at the pluripotent stage. SMCHD1 is required for the dynamic methylation of the D4Z4 macrosatellite upon reprogramming but seems dispensable for methylation maintenance. We find that FSHD and BAMS patient's cells carrying SMCHD1 mutations are both permissive for DUX4 expression, a transcription factor whose regulation has been proposed as the main trigger for FSHD. These findings open new questions as to what is the true aetiology for FSHD, the epigenetic events associated with the disease thus calling the current model into question and opening new perspectives for understanding repetitive DNA sequences regulation. (© The Author(s) 2019. Published by Oxford University Press on behalf of Nucleic Acids Research.) |
References: | Dev Cell. 2012 Jan 17;22(1):38-51. (PMID: 22209328) Cell. 2009 Jan 9;136(1):175-86. (PMID: 19135898) Nat Genet. 2017 Jun;49(6):941-945. (PMID: 28459456) Am J Med Genet C Semin Med Genet. 2015 Sep;169(3):251-64. (PMID: 26250845) PLoS Genet. 2011 Dec;7(12):e1002384. (PMID: 22144907) Stem Cell Reports. 2014 Nov 11;3(5):699-706. (PMID: 25418717) Nat Genet. 1992 Sep;2(1):26-30. (PMID: 1363881) Gene. 1999 Aug 5;236(1):25-32. (PMID: 10433963) Nat Struct Mol Biol. 2013 Sep;20(9):1131-9. (PMID: 23934149) Nat Struct Mol Biol. 2013 May;20(5):566-73. (PMID: 23542155) Epigenetics. 2011 Jan;6(1):63-75. (PMID: 20861676) Neurology. 2014 Aug 19;83(8):733-42. (PMID: 25031281) Trends Genet. 2017 Apr;33(4):233-243. (PMID: 28222895) Ann Neurol. 2005 Oct;58(4):569-76. (PMID: 16178028) Mol Cell Biol. 2015 Dec;35(23):4053-68. (PMID: 26391951) Cell Stem Cell. 2010 May 7;6(5):407-11. (PMID: 20452313) Development. 1987 Mar;99(3):371-82. (PMID: 3653008) Nat Genet. 2017 Feb;49(2):238-248. (PMID: 28067909) Mol Cell Biol. 2013 Aug;33(16):3150-65. (PMID: 23754746) PLoS One. 2016 Jul 28;11(7):e0160022. (PMID: 27467759) Nucleic Acids Res. 2014 Jul;42(13):e104. (PMID: 24861623) Neurology. 2013 Jan 22;80(4):392-9. (PMID: 23284062) Proc Natl Acad Sci U S A. 2005 May 24;102(21):7629-34. (PMID: 15890782) Nat Commun. 2013;4:2848. (PMID: 24270157) Hum Mol Genet. 2012 Oct 15;21(20):4419-30. (PMID: 22798623) Neurology. 2010 Oct 26;75(17):1548-54. (PMID: 20975055) Science. 2010 Sep 24;329(5999):1650-3. (PMID: 20724583) Hum Mol Genet. 2013 Oct 15;22(20):4206-14. (PMID: 23777630) Hum Mutat. 2009 Oct;30(10):1449-59. (PMID: 19728363) Hum Mol Genet. 2014 Jul 15;23(14):3629-40. (PMID: 24549038) Nat Genet. 2017 Feb;49(2):249-255. (PMID: 28067911) Nat Genet. 2008 May;40(5):663-9. (PMID: 18425126) Nat Genet. 2003 Dec;35(4):315-7. (PMID: 14634647) Am J Hum Genet. 1992 Aug;51(2):396-403. (PMID: 1642237) Cell. 2018 Jul 12;174(2):406-421.e25. (PMID: 29887375) Genomics. 1995 Aug 10;28(3):389-97. (PMID: 7490072) Genome Res. 2008 Aug;18(8):1259-69. (PMID: 18456864) Am J Hum Genet. 1992 Aug;51(2):404-10. (PMID: 1642238) Genes Dev. 1998 Jul 15;12(14):2108-13. (PMID: 9679055) J Biol Chem. 2018 Jun 22;293(25):9841-9853. (PMID: 29748383) Nat Struct Mol Biol. 2018 Sep;25(9):766-777. (PMID: 30127357) Nat Genet. 1992 May;1(2):137-43. (PMID: 1302007) Development. 1991 Sep;113(1):119-27. (PMID: 1764989) Hum Mutat. 2015 Jul;36(7):679-83. (PMID: 25820463) Nat Genet. 2017 Jun;49(6):935-940. (PMID: 28459454) Nat Genet. 2017 Jun;49(6):925-934. (PMID: 28459457) Int J Mol Sci. 2018 May 03;19(5):. (PMID: 29751519) 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. 2012 Jan;49(1):41-6. (PMID: 21984748) Nat Genet. 2002 Oct;32(2):235-6. (PMID: 12355084) Dev Cell. 2012 Aug 14;23(2):265-79. (PMID: 22841499) PLoS Genet. 2010 Oct 28;6(10):e1001181. (PMID: 21060811) Skelet Muscle. 2017 Jun 6;7(1):12. (PMID: 28587678) BMC Med Genet. 2016 Sep 15;17(1):66. (PMID: 27634379) Nat Genet. 2012 Dec;44(12):1370-4. (PMID: 23143600) Biochem J. 2016 Mar 15;473(6):733-42. (PMID: 26733688) Nat Biotechnol. 2010 Aug;28(8):848-55. (PMID: 20644536) |
المشرفين على المادة: | 0 (Chromosomal Proteins, Non-Histone) 0 (DUX4L1 protein, human) 0 (Homeodomain Proteins) 0 (SMCHD1 protein, human) |
SCR Disease Name: | Arhinia, choanal atresia, and microphthalmia |
تواريخ الأحداث: | Date Created: 20190131 Date Completed: 20191112 Latest Revision: 20200309 |
رمز التحديث: | 20231215 |
مُعرف محوري في PubMed: | PMC6451109 |
DOI: | 10.1093/nar/gkz005 |
PMID: | 30698748 |
قاعدة البيانات: | MEDLINE |
تدمد: | 1362-4962 |
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DOI: | 10.1093/nar/gkz005 |