Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy
| Autor: | Leo Enthoven, F. Bakels, Gert-Jan B. van Ommen, Silvère M. van der Maarel, Rune R. Frants, Lodewijk A. Sandkuijl, Richard J F L Lemmers, George W. Padberg, Sara T. Winokur, Petra G.M. van Overveld |
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| Rok vydání: | 2003 |
| Předmět: |
musculoskeletal diseases
Male congenital hereditary and neonatal diseases and abnormalities Genotype Biology DUX4 Genetics medicine Facioscapulohumeral muscular dystrophy Humans Epigenetics Allele Muscular dystrophy Myopathy Repetitive Sequences Nucleic Acid Polymorphism Genetic DNA Methylation medicine.disease Muscular Dystrophy Facioscapulohumeral Neuromuscular development and genetic disorders [UMCN 3.1] Pedigree DNA methylation Female medicine.symptom Chromosomes Human Pair 4 |
| Zdroj: | Nature Genetics, 35, 4, pp. 315-7 Nature Genetics, 35, 315-7 |
| ISSN: | 1061-4036 |
| Popis: | Item does not contain fulltext 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. |
| Databáze: | OpenAIRE |
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