Article
Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy.
American journal of human genetics - 5 May 2016
van den Boogaard Marlinde L, Lemmers Richard J L F, Balog Judit, Wohlgemuth Mariëlle, Auranen Mari, Mitsuhashi Satomi, van der Vliet Patrick J, Straasheijm Kirsten R, van den Akker Rob F P, Kriek Marjolein, Laurense-Bik Marlies E Y, Raz Vered, van Ostaijen-Ten Dam Monique M, Hansson Kerstin B M, van der Kooi Elly L, Kiuru-Enari Sari, Udd Bjarne, van Tol Maarten J D, Nishino Ichizo, Tawil Rabi, Tapscott Stephen J, van Engelen Baziel G M, van der Maarel Silvère M
Abstract excerpt
Facioscapulohumeral dystrophy (FSHD) is associated with somatic chromatin relaxation of the D4Z4 repeat array and derepression of the D4Z4-encoded DUX4 retrogene coding for a germline transcription factor. Somatic DUX4 derepression is caused either by a 1-10 unit repeat-array contraction (FSHD1) or by mutations in SMCHD1, which encodes a chromatin repressor that binds to D4Z4 (FSHD2). Here, we show that...
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