2012
DOI: 10.1038/ng.2454
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Abstract: Facioscapulohumeral dystrophy (FSHD) is characterized by chromatin relaxation of the D4Z4 macrosatellite array on chromosome 4 and expression of the D4Z4-encoded DUX4 gene in skeletal muscle. The more common form, autosomal dominant FSHD1, is caused by a contraction of the D4Z4 array, whereas the genetic determinants and inheritance of D4Z4 array contraction-independent FSHD2 are unclear. Here we show that mutations in SMCHD1 (structural maintenance of chromosomes flexible hinge domain containing 1) on chromos… Show more

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Cited by 530 publications
(642 citation statements)
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“…The methylation level in the 4q-associated proximal D4Z4 tandem repeat was determined using the methylation-sensitive enzyme Fse1. 11 Following blotting the band intensities were quantified using ImageJ software (v1.43, National Institutes of Health, Bethesda, MD, USA). Some of the samples were also analysed by pyrosequencing of DR1 region of DUX4.…”
Section: Methodsmentioning
confidence: 99%
See 4 more Smart Citations
“…The methylation level in the 4q-associated proximal D4Z4 tandem repeat was determined using the methylation-sensitive enzyme Fse1. 11 Following blotting the band intensities were quantified using ImageJ software (v1.43, National Institutes of Health, Bethesda, MD, USA). Some of the samples were also analysed by pyrosequencing of DR1 region of DUX4.…”
Section: Methodsmentioning
confidence: 99%
“…Five microliters of 5 ng/ml cDNA was amplified using 40 cycles and sequenced using standard methods. 11 Location of primers used is given in Supplementary Table 1.…”
Section: Rna Analysismentioning
confidence: 99%
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