a functional role for 4qab in the structural rearrangement of the 4q35 region and in the regulation of frg1 and ant1 in facioscapulohumeral dystrophy功能作用的结构重排4中4 qab q35地区和frg1的规定和ant1 facioscapulohumeral萎缩症.pdfVIP

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a functional role for 4qab in the structural rearrangement of the 4q35 region and in the regulation of frg1 and ant1 in facioscapulohumeral dystrophy功能作用的结构重排4中4 qab q35地区和frg1的规定和ant1 facioscapulohumeral萎缩症.pdf

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a functional role for 4qab in the structural rearrangement of the 4q35 region and in the regulation of frg1 and ant1 in facioscapulohumeral dystrophy功能作用的结构重排4中4 qab q35地区和frg1的规定和ant1 facioscapulohumeral萎缩症

A Functional Role for 4qA/B in the Structural Rearrangement of the 4q35 Region and in the Regulation of FRG1 and ANT1 in Facioscapulohumeral Dystrophy 1 1 1 2 1 1 Iryna Pirozhkova , Andrei Petrov , Petr Dmitriev , Dalila Laoudj , Marc Lipinski , Yegor Vassetzky * ´ ´ ´ 1 Universite Paris-Sud 11, CNRS UMR 8126, Interactions moleculaires et cancer, Institut de Cancerologie Gustave-Roussy, Villejuif, France, 2 INSERM, ERI25, F-34000, ´ Montpellier, France, Universite Montpellier 1, Montpellier, France Abstract The number of D4Z4 repeats in the subtelomeric region of chromosome 4q is strongly reduced in patients with Facio- Scapulo-Humeral Dystrophy (FSHD). We performed chromosome conformation capture (3C) analysis to document the interactions taking place among different 4q35 markers. We found that the reduced number of D4Z4 repeats in FSHD myoblasts was associated with a global alteration of the three-dimensional structure of the 4q35 region. Indeed, differently from normal myoblasts, the 4qA/B marker interacted directly with the promoters of the FRG1 and ANT1 genes in FSHD cells. Along with the presence of a newly identified transcriptional enhancer within the 4qA allele, our demonstration of an interaction occurring between chromosomal segments located megabases away on the same chromosome 4q allows to revisit the possible mechanisms leading to FSHD. Citation: Pirozhkova I, Petrov A, Dmitriev P, Laoudj D, Lipinski M, et al. (2008) A Functional Role for 4qA/B in the Structural Rearrangement of the 4q35 Region and in the Regulation of FRG1 and AN