دورية أكاديمية
أعرض في EDS

SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatellite.

التفاصيل البيبلوغرافية
العنوان: SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatellite.
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.)
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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
الوصف
تدمد:1362-4962
DOI:10.1093/nar/gkz005