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Human Molecular Genetics Advance Access published online on June 5, 2006
Human Molecular Genetics, doi:10.1093/hmg/ddl146
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© The Author 2006. Published by Oxford University Press. All rights reserved
Received April 18, 2006
Revised May 31, 2006
Accepted May 31, 2006

Article

Ube3a expression is not altered in Mecp2 mutant mice

ChaRandle Jordan 1 and Uta Francke 2 *

1 Department of Genetics, Stanford University School of Medicine, Stanford CA, USA
2 Department of Genetics, Stanford University School of Medicine, Beckman Center for Molecular and Genetic Medicine, 279 Campus Drive, Stanford CA 94305-5323, USA; Department of Pediatrics, Stanford University School of Medicine, Stanford CA, USA

* To whom correspondence should be addressed.
Uta Francke, E-mail: ufrancke{at}stanford.edu


  Abstract

Rett syndrome (RTT) is a neurodevelopmental disorder characterized by cognitive regression, loss of purposeful hand movements and speech, stereotypies, ataxia, seizures, mental retardation and acquired microcephaly. Mutations in MECP2, encoding methyl-CpG binding protein 2, are responsible for ~90% of classic RTT cases. RTT displays phenotypic overlap with Angelman syndrome, a disorder caused by loss of expression of the imprinted gene UBE3A. MeCP2 binds to methylated DNA and may alter the expression of imprinted genes, thereby suggesting a mechanistic link between the two disorders. Here, we tested the hypothesis that MeCP2 deficiency affects expression of Ube3a in mouse models of RTT. As Ube3a is only imprinted in brain, we evaluated Ube3a expression in brains of 15 different litters of neonatal or eight week old Mecp2 male mutant mice by real-time quantitative RT-PCR and Western blot analysis. We found no significant differences between Mecp2tm1.1Bird/Y or Mecp2tm1.1Jae/Y mutants and their wild-type male siblings that served as negative controls. In positive control mice carrying a maternally inherited Ube3a deletion, Ube3a sense transcript and protein levels were drastically reduced. Our data contrast with two recent reports of substantially decreased Ube3a expression in brain tissues of MeCP2-deficient mice. We, therefore, challenge the conclusion that decreased UBE3A/Ube3a expression contributes to the pathophysiology of RTT.


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