DNA methylation regulates tissue-speci.c expression of Shank3

Silvana Beri, Noemi Tonna, Giorgia Menozzi, Maria Clara Bonaglia, Carlo Sala, Roberto Giorda

Research output: Contribution to journalArticlepeer-review


Tissue-specific gene expression can be controlled by epigenetic modifications such as DNA methylation. SHANK3, together with its homologues SHANK1 and SHANK2, has a central functional and structural role in excitatory synapses and is involved in the human chromosome 22q13 deletion syndrome. In this report, we show by DNA methylation analysis in lymphocytes, brain cortex, cerebellum and heart that the three SHANK genes possess several methylated CpG boxes, but only SHANK3 CpG islands are highly methylated in tissues where protein expression is low or absent and unmethylated where expression is present. SHANK3 protein expression is significantly reduced in hippocampal neurons after treatment with methionine, while HeLa cells become able to express SHANK3 after treatment with 5-Aza-2′-deoxycytidine. Altogether, these data suggest the existence of a specific epigenetic control mechanism regulating SHANK3, but not SHANK1 and SHANK2, expression.

Original languageEnglish
Pages (from-to)1380-1391
Number of pages12
JournalJournal of Neurochemistry
Issue number5
Publication statusPublished - Jun 2007


  • CpG island
  • DNA methylation
  • Epigenetic control of gene expression
  • SHANK3
  • Tissue-specific expression

ASJC Scopus subject areas

  • Biochemistry
  • Cellular and Molecular Neuroscience


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