Elevated expression of MeCP2 in cardiac and skeletal tissues is detrimental for normal development

Matías Alvarez-Saavedra, Loreto Carrasco, Sylvia Sura-Trueba, Vera Demarchi Aiello, Katherina Walz, José Xavier Neto, Juan I. Young

Research output: Contribution to journalArticle

35 Scopus citations


MeCP2 plays a critical role in interpreting epigenetic signatures that command chromatin conformation and regulation of gene transcription. In spite of MeCP2's ubiquitous expression, its functions have always been considered in the context of brain physiology. In this study, we demonstrate that alterations of the normal pattern of expression of MeCP2 in cardiac and skeletal tissues are detrimental for normal development. Overexpression of MeCP2 in the mouse heart leads to embryonic lethality with cardiac septum hypertrophy and dysregulated expression of MeCP2 in skeletal tissue produces severe malformations. We further show that MeCP2's expression in the heart is developmentally regulated; further suggesting that it plays a key role in regulating transcriptional programs in non-neural tissues.

Original languageEnglish (US)
Article numberddq096
Pages (from-to)2177-2190
Number of pages14
JournalHuman molecular genetics
Issue number11
StatePublished - Mar 4 2010


ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

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