DNMT3B splicing dysregulation mediated by SMCHD1 loss contributes to DUX4 overexpression and FSHD pathogenesis.

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作者： Eden,Engal ^[1] ; Aveksha,Sharma ^[2] ; Uria,Aviel ^[3] ; Nadeen,Taqatqa ^[2] ; Sarah,Juster ^[1] ; Shiri,Jaffe-Herman ^[4] ; Mercedes,Bentata ^[2] ; Ophir,Geminder ^[4] ; Adi,Gershon ^[5] ; Reyut,Lewis ^[2] ; Gillian,Kay ^[1] ; Merav,Hecht ^[2] ; Silvina,Epsztejn-Litman ^[2] ; Marc,Gotkine ^[3] ; Vincent,Mouly ^[2] ; Rachel,Eiges ^[1] ; Maayan,Salton ^[2] ; Yotam,Drier ^[1]

作者单位： The Lautenberg Center for Immunology and Cancer Research, The Institute for Medical Research Israel-Canada, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem 9112102, Israel. ^[1] Department of Biochemistry and Molecular Biology, The Institute for Medical Research Israel-Canada, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem 9112102, Israel. ^[2] Department of Military Medicine and "Tzameret", Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem 9112102, Israel. ^[3] Stem Cell Research Laboratory, Medical Genetics Institute, Shaare Zedek Medical Center, Jerusalem 9103102, Israel. ^[4] Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem 9112102, Israel. ^[5] Department of Neurology, Hadassah Medical Organization and Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem 9112002, Israel. ^[6] UPMC University Paris 06, Inserm UMRS974, CNRS FRE3617, Center for Research in Myology, Sorbonne University,75252 Paris, France. ^[7]

主题词人类(Humans);选择性剪接(Alternative Splicing);染色体蛋白质类, 非组蛋白(Chromosomal Proteins, Non-Histone);DNA甲基化(DNA Methylation);基因表达调控(Gene Expression Regulation);同源盒结构域蛋白质类(Homeodomain Proteins);肌营养不良, 面肩肱型(Muscular Dystrophy, Facioscapulohumeral);RNA剪接(RNA Splicing);RNA结合蛋白质类(RNA-Binding Proteins)

DOI 10.1126/sciadv.adn7732

PMID 38809976

发布时间 2024-06-05

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Science advances

2024年10卷22期

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DNMT3B splicing dysregulation mediated by SMCHD1 loss contributes to DUX4 overexpression and FSHD pathogenesis.

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DNMT3B splicing dysregulation mediated by SMCHD1 loss contributes to DUX4 overexpression and FSHD pathogenesis.

Science advances

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