SIX transcription factors are necessary for the activation of DUX4 expression in facioscapulohumeral muscular dystrophy

Campbell AE, et al. Facioscapulohumeral dystrophy: activating an early embryonic transcriptional program in human skeletal muscle. Hum Mol Genet. 2018;27(R2):R153–62.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Tawil R, van der Maarel SM. Facioscapulohumeral muscular dystrophy. Muscle Nerve. 2006;34(1):1–15.

Article  CAS  PubMed  Google Scholar 

Himeda CL, Jones PL. The Genetics and Epigenetics of Facioscapulohumeral Muscular Dystrophy. Annu Rev Genomics Hum Genet. 2019;20:265–91.

Article  CAS  PubMed  Google Scholar 

Brouwer OF, et al. Facioscapulohumeral muscular dystrophy in early childhood. Arch Neurol. 1994;51(4):387–94.

Article  CAS  PubMed  Google Scholar 

Goselink RJM, et al. Facioscapulohumeral Dystrophy in Childhood: A Nationwide Natural History Study. Ann Neurol. 2018;84(5):627–37.

Article  PubMed  PubMed Central  Google Scholar 

Statland JM, Tawil R. Facioscapulohumeral Muscular Dystrophy. Continuum (Minneap Minn). 2016;22(6, Muscle and Neuromuscular Junction Disorders):1916–1931.

Statland J, Tawil R, Facioscapulohumeral muscular dystrophy. Neurol Clin. 2014;32(3):721–8, ix.

Lemmers RJ, et al. A unifying genetic model for facioscapulohumeral muscular dystrophy. Science. 2010;329(5999):1650–3.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Tawil R, van der Maarel SM, Tapscott SJ. Facioscapulohumeral dystrophy: the path to consensus on pathophysiology. Skelet Muscle. 2014;4:12.

Article  PubMed  PubMed Central  Google Scholar 

van der Maarel SM, et al. Facioscapulohumeral muscular dystrophy: consequences of chromatin relaxation. Curr Opin Neurol. 2012;25(5):614–20.

Article  PubMed  PubMed Central  Google Scholar 

Wijmenga C, et al. Location of facioscapulohumeral muscular dystrophy gene on chromosome 4. Lancet. 1990;336(8716):651–3.

Article  CAS  PubMed  Google Scholar 

Hamanaka K, et al. Homozygous nonsense variant in LRIF1 associated with facioscapulohumeral muscular dystrophy. Neurology. 2020;94(23):e2441–7.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Balog J, et al. Increased DUX4 expression during muscle differentiation correlates with decreased SMCHD1 protein levels at D4Z4. Epigenetics. 2015;10(12):1133–42.

Article  PubMed  PubMed Central  Google Scholar 

Daxinger L, Tapscott SJ, van der Maarel SM. Genetic and epigenetic contributors to FSHD. Curr Opin Genet Dev. 2015;33:56–61.

Article  CAS  PubMed  PubMed Central  Google Scholar 

van Overveld PG, et al. Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy. Nat Genet. 2003;35(4):315–7.

Article  PubMed  Google Scholar 

Mocciaro E, et al. DUX4 Role in Normal Physiology and in FSHD Muscular Dystrophy. Cells. 2021;10(12):3322.

Full F, et al. Centrosomal protein TRIM43 restricts herpesvirus infection by regulating nuclear lamina integrity. Nat Microbiol. 2019;4(1):164–76.

Article  CAS  PubMed  Google Scholar 

Lilljebjorn H, et al. Identification of ETV6-RUNX1-like and DUX4-rearranged subtypes in paediatric B-cell precursor acute lymphoblastic leukaemia. Nat Commun. 2016;7:11790.

Article  PubMed  PubMed Central  Google Scholar 

Smith AA, et al. DUX4 expression in cancer induces a metastable early embryonic totipotent program. Cell Rep. 2023;42(9):113114.

Article  CAS  PubMed  PubMed Central  Google Scholar 

De Iaco A, et al. DUX-family transcription factors regulate zygotic genome activation in placental mammals. Nat Genet. 2017;49(6):941–5.

Article  PubMed  PubMed Central  Google Scholar 

Snider L, et al. Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene. PLoS Genet. 2010;6(10):e1001181.

Article  PubMed  PubMed Central  Google Scholar 

Deenen JC, et al. Population-based incidence and prevalence of facioscapulohumeral dystrophy. Neurology. 2014;83(12):1056–9.

Article  PubMed  PubMed Central  Google Scholar 

Banerji CRS, et al. Skeletal muscle regeneration in facioscapulohumeral muscular dystrophy is correlated with pathological severity. Hum Mol Genet. 2020;29(16):2746–60.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Kan HE, et al. Only fat infiltrated muscles in resting lower leg of FSHD patients show disturbed energy metabolism. NMR Biomed. 2010;23(6):563–8.

Article  CAS  PubMed  Google Scholar 

Jongsma MLM, Neefjes J, Spaapen RM. Playing hide and seek: Tumor cells in control of MHC class I antigen presentation. Mol Immunol. 2021;136:36–44.

Article  CAS  PubMed  Google Scholar 

Chew GL, et al. DUX4 Suppresses MHC Class I to Promote Cancer Immune Evasion and Resistance to Checkpoint Blockade. Dev Cell. 2019;50(5):658-671 e7.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Himeda CL, Jones TI, Jones PL. Facioscapulohumeral muscular dystrophy as a model for epigenetic regulation and disease. Antioxid Redox Signal. 2015;22(16):1463–82.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Oliva J, et al. Clinically Advanced p38 Inhibitors Suppress DUX4 Expression in Cellular and Animal Models of Facioscapulohumeral Muscular Dystrophy. J Pharmacol Exp Ther. 2019;370(2):219–30.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Dixit M, et al. DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1. Proc Natl Acad Sci U S A. 2007;104(46):18157–62.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Ottaviani A, et al. The D4Z4 macrosatellite repeat acts as a CTCF and A-type lamins-dependent insulator in facio-scapulo-humeral dystrophy. PLoS Genet. 2009;5(2):e1000394.

Article  PubMed  PubMed Central  Google Scholar 

Bodega B, et al. Remodeling of the chromatin structure of the facioscapulohumeral muscular dystrophy (FSHD) locus and upregulation of FSHD-related gene 1 (FRG1) expression during human myogenic differentiation. BMC Biol. 2009;7:41.

Article  PubMed  PubMed Central  Google Scholar 

Cabianca DS, et al. A long ncRNA links copy number variation to a polycomb/trithorax epigenetic switch in FSHD muscular dystrophy. Cell. 2012;149(4):819–31.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Himeda CL, et al. Identification of Epigenetic Regulators of DUX4-fl for Targeted Therapy of Facioscapulohumeral Muscular Dystrophy. Mol Ther. 2018;26(7):1797–807.

Article  CAS  PubMed  PubMed Central 

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