The protocadherins, PCDHB1 and PCDH7, are regulated by MeCP2 in neuronal cells and brain tissues: implication for pathogenesis of Rett syndrome
2011

MeCP2 Regulates Protocadherins in Neuronal Cells and Brain Tissues

publication Evidence: moderate

Author Information

Author(s): Miyake Kunio, Hirasawa Takae, Soutome Masaki, Itoh Masayuki, Goto Yu-ichi, Endoh Kazushi, Takahashi Kenichiro, Kudo Shinichi, Nakagawa Takayuki, Yokoi Sana, Taira Takahiro, Inazawa Johji, Kubota Takeo

Primary Institution: Department of Epigenetic Medicine, University of Yamanashi, Chuo, Yamanashi, Japan

Hypothesis

The study investigates the regulation of protocadherin genes PCDHB1 and PCDH7 by MeCP2 in neuronal cells and its implications for Rett syndrome.

Conclusion

The study identifies that MeCP2 regulates the expression of protocadherin genes, which may contribute to the neurological features of Rett syndrome.

Supporting Evidence

  • MeCP2 binds to the upstream regions of PCDHB1 and PCDH7 genes in human neuroblastoma cells.
  • Reduction of MeCP2 leads to increased expression of PCDHB1 and PCDH7 in both cell lines and Mecp2-null mice.
  • PCDHB1 expression was found to be up-regulated in postmortem brains from Rett syndrome patients.

Takeaway

Researchers found that a protein called MeCP2 controls certain genes important for brain development, and problems with this protein might lead to Rett syndrome.

Methodology

The study used a genome-microarray approach and ChIP analysis to identify MeCP2 target genes in human neuroblastoma cells.

Limitations

The study's array only covers one third of the human genome, potentially missing other MeCP2 target genes.

Digital Object Identifier (DOI)

10.1186/1471-2202-12-81

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