In junk we trust: Repetitive DNA, epigenetics and facioscapulohumeral muscular dystrophy

Maria V. Neguembor, Davide Gabellini

Research output: Contribution to journalArticlepeer-review


Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant myopathy with a peculiar etiology. Unlike most genetic disorders, FSHD is not caused by mutations in a protein-coding gene. Instead, it is associated with contraction of the D4Z4 macrosatellite repeat array located at 4q35. Interestingly, D4Z4 deletion is not sufficient per se to cause FSHD. Moreover, the disease severity, its rate of progression and the distribution of muscle weakness display great variability even among close family relatives. Hence, additional genetic and epigenetic events appear to be required for FSHD pathogenesis. Indeed, recent findings suggest that virtually all levels of epigenetic regulation, from DNA methylation to higher order chromosomal architecture, exhibit alterations in the disease locus causing deregulation of 4q35 gene expression, ultimately leading to FSHD.

Original languageEnglish
Pages (from-to)271-287
Number of pages17
Issue number2
Publication statusPublished - Apr 2010


  • chromatin
  • D4Z4 repeat
  • DNA methylation
  • epigenetics
  • facioscapulohumeral muscular dystrophy
  • FSHD
  • ncRNA
  • noncoding RNA
  • repetitive DNA
  • transcriptional repression

ASJC Scopus subject areas

  • Genetics
  • Cancer Research


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