Epigenetic mechanisms of facioscapulohumeral muscular dystrophy.
Facioscapulohumeral muscular dystrophy (FSHD) seems to be caused by a complex epigenetic disease mechanism as a result of contraction of the polymorphic macrosatellite repeat D4Z4 on chromosome 4qter. Currently, the exact mechanism causing the FSHD phenotype is still not elucidated. In this review, we discuss the genetic and epigenetic changes observed in patients with FSHD and the possible disease mechanisms that may be associated with FSHD pathogenesis.
de Greef
Jessica C
JC
Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Frants
Rune R
RR
van der Maarel
Silvère M
SM
D002467:Cell Nucleus / Q000502:physiology; D019175:DNA Methylation; D044127:Epigenesis, Genetic; D005786:Gene Expression Regulation; D006657:Histones / Q000378:metabolism; D006801:Humans; D018895:Microsatellite Repeats; D008957:Models, Genetic; D020391:Muscular Dystrophy, Facioscapulohumeral / Q000235:genetics*
D006657:Histones