The X-linked methyl binding protein gene Kaiso is highly expressed in brain but is not mutated in Rett syndrome patients.

Gene
Floriana Della RagioneEgor Prokhortchouk

Abstract

Rett syndrome (RTT; OMIM 312750) is an X-linked dominant neurological disorder, which affects mostly females. It is associated with mutations of the MECP2 gene, codifying for a methyl-CpG DNA binding protein of the MBDs family, sharing the common Methyl Binding Domain. MeCP2 binds single methylated CpG pair and brings transcriptional silencing to the substrate DNA templates. However, around 5-10% of clinically well defined RTT patients do not show any mutations in this gene. Several hypotheses have been postulated to clarify the remaining unexplained RTT cases. We pointed our attention on Kaiso gene. This gene is localized in the Xq23 region and codifies for a protein acting as a methyl-CpG binding protein by using three zinc-finger domains: for this reason it is not strictly related to the MBD family of proteins, even if it may repress transcription of methylated genes as well. To investigate the potential association of Kaiso disfunction with pathogenesis of Rett syndrome, we approached the analysis at two different levels. Primarily, we performed an itemized murine brain expression analysis of Kaiso gene. Expression data and localization made it an excellent candidate as additional causative gene for MECP2 negative, classica...Continue Reading

References

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Citations

Jul 16, 2010·Neuropsychopharmacology : Official Publication of the American College of Neuropsychopharmacology·Rajiv P SharmaDennis R Grayson
Oct 11, 2015·Behavioural Brain Research·Alexander V KulikovEgor B Prokhortchouk
Jun 6, 2014·American Journal of Medical Genetics. Part a·Eric R LondinPaolo Fortina
Sep 4, 2014·Histochemistry and Cell Biology·Valeriya Sergeevna ShumskayaEgor Borisovich Prokhorchouk
Apr 16, 2019·Frontiers in Physiology·Anna A TiunovaKonstantin V Anokhin
Feb 28, 2013·Development·Hendrikus J van HeesbeenMarten P Smidt

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