Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy
PGM van Overveld, RJFL Lemmers, LA Sandkuijl… - Nature …, 2003 - nature.com
PGM van Overveld, RJFL Lemmers, LA Sandkuijl, L Enthoven, ST Winokur, F Bakels…
Nature genetics, 2003•nature.comThe autosomal dominant myopathy facioscapulohumeral muscular dystrophy (FSHD1,
OMIM 158900) is caused by contraction of the D4Z4 repeat array on 4qter. We show that this
contraction causes marked hypomethylation of the contracted D4Z4 allele in individuals with
FSHD1. Individuals with phenotypic FSHD1, who are clinically identical to FSHD1 but have
an unaltered D4Z4, also have hypomethylation of D4Z4. These results strongly suggest that
hypomethylation of D4Z4 is a key event in the cascade of epigenetic events causing FSHD1.
OMIM 158900) is caused by contraction of the D4Z4 repeat array on 4qter. We show that this
contraction causes marked hypomethylation of the contracted D4Z4 allele in individuals with
FSHD1. Individuals with phenotypic FSHD1, who are clinically identical to FSHD1 but have
an unaltered D4Z4, also have hypomethylation of D4Z4. These results strongly suggest that
hypomethylation of D4Z4 is a key event in the cascade of epigenetic events causing FSHD1.
Abstract
The autosomal dominant myopathy facioscapulohumeral muscular dystrophy (FSHD1, OMIM 158900) is caused by contraction of the D4Z4 repeat array on 4qter. We show that this contraction causes marked hypomethylation of the contracted D4Z4 allele in individuals with FSHD1. Individuals with phenotypic FSHD1, who are clinically identical to FSHD1 but have an unaltered D4Z4, also have hypomethylation of D4Z4. These results strongly suggest that hypomethylation of D4Z4 is a key event in the cascade of epigenetic events causing FSHD1.
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