Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene.

Each unit of the D4Z4 macrosatellite repeat contains a retrotransposed gene encoding the DUX4 double-homeobox transcription factor. Facioscapulohumeral dystrophy (FSHD) is caused by deletion of a subset of the D4Z4 units in the subtelomeric region of chromosome 4. Although it has been reported that...

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Bibliographic Details
Main Authors: Lauren Snider, Linda N Geng, Richard J L F Lemmers, Michael Kyba, Carol B Ware, Angelique M Nelson, Rabi Tawil, Galina N Filippova, Silvère M van der Maarel, Stephen J Tapscott, Daniel G Miller
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2010-10-01
Series:PLoS Genetics
Online Access:http://europepmc.org/articles/PMC2965761?pdf=render