NDLI: DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1

Content Provider	PubMed Central
Author	Dixit, Manjusha Ansseau, Eugénie Tassin, Alexandra Winokur, Sara Shi, Rongye Qian, Hong Sauvage, Sébastien Christel, Mattéotti Acker, Anne M. Van Leo, Oberdan Denise, Figlewicz Barro, Marietta Dalila, Laoudj-chenivesse Alexandra, Belayew Coppée, Frédérique Chen, Yi-wen
Copyright Year	2007
Abstract	Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant disorder linked to contractions of the D4Z4 repeat array in the subtelomeric region of chromosome 4q. By comparing genome-wide gene expression data from muscle biopsies of patients with FSHD to those of 11 other neuromuscular disorders, paired-like homeodomain transcription factor 1 (PITX1) was found specifically up-regulated in patients with FSHD. In addition, we showed that the double homeobox 4 gene (DUX4) that maps within the D4Z4 repeat unit was up-regulated in patient myoblasts at both mRNA and protein level. We further showed that the DUX4 protein could activate transient expression of a luciferase reporter gene fused to the Pitx1 promoter as well as the endogenous Pitx1 gene in transfected C2C12 cells. In EMSAs, DUX4 specifically interacted with a 30-bp sequence 5′-CGGATGCTGTCTTCTAATTAGTTTGGACCC-3′ in the Pitx1 promoter. Mutations of the TAAT core affected Pitx1-LUC activation in C2C12 cells and DUX4 binding in vitro. Our results suggest that up-regulation of both DUX4 and PITX1 in FSHD muscles may play critical roles in the molecular mechanisms of the disease.
Related Links	http://dx.doi.org/10.1073/pnas.0708659104
Ending Page	18162
Page Count	6
Starting Page	18157
File Format	PDF
ISSN	00278424
e-ISSN	10916490
Journal	Proceedings of the National Academy of Sciences of the United States of America
Issue Number	46
Volume Number	104
Language	English
Publisher	National Academy of Sciences
Publisher Date	2007-11-13
Access Restriction	Open
Rights Holder	National Academy of Sciences
Subject Keyword	General Research in Higher Education
Content Type	Text
Resource Type	Article
Subject	Multidisciplinary

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