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2009-11-06 - Colloque/Présentation - poster - Anglais - 1 page(s)

Dmitriev P, Petrov A, Ansseau Eugénie , Charron Sébastien , Coppée Frédérique , Belayew Alexandra , Carnac G, Turki Ahmed, Laoudj-Chenivesse Dalila, Lipinski M, Vassetzky YS, "Kruppel-like factor KLF15 interacts with the D4Z4 enhancer and upregulates a FSHD-related gene DUX4c" in FSH Society International Research Consortium and Research Planning Meetings, Boston, USA, 2009

  • Codes CREF : Biologie moléculaire (DI3111), Pathologies particulières (DI3370)
  • Unités de recherche UMONS : Biologie moléculaire (M122)
  • Instituts UMONS : Institut des Sciences et Technologies de la Santé (Santé)

Abstract(s) :

(Anglais) Facioscapulohumeral muscular dystrophy (FSHD), a dominant hereditary disease with a prevalence of 1 in 20,000 individuals, is caused by a partial deletion in the sub-telomeric D4Z4 repeat array on chromosome 4q. Here we show that a strong transcriptional enhancer within the D4Z4 repeat unit interacts with the Krüppel-like factor KLF15 and that the expression level of KLF15 regulates the activity of the D4Z4 enhancer which, in turns, induces expression of DUX4c in a KLF15-dependent manner. During muscle differentiation, increased expression of KLF15 activates the D4Z4 enhancer leading to activation of the promoter of the DUX4c gene. Furthermore, we show that KLF15 is expressed at higher levels in muscle biopsies from FSHD patients compared to controls. Higher expression of KLF15 in muscles of FHSD patients could induce untimely over-expression of DUX4c with deleterious effects on muscle cell differentiation. We suggest that the KLF15-controlled D4Z4 enhancer may play a role in normal and pathological development of muscular cells.