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Effects of Rett Syndrome Mutations of the Methyl-CpG Binding Domain of the Transcriptional Repressor MeCP2 on Selectivity for Association with Methylated DNA

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    Article

    Effects of Rett Syndrome Mutations of the Methyl-CpG Binding Domain of the Transcriptional Repressor MeCP2 on Selectivity for Association with Methylated DNA
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    Laboratory of Molecular Embryology, National Institute of Child Health and Human Development, National Institutes of Health, Building 18T, Room 106, Bethesda, Maryland 20892-5431, and Department of Genetics, The George Washington University, 2121 I Street NW, Washington, D.C. 20052
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    Biochemistry

    Cite this: Biochemistry 2000, 39, 24, 7100–7106
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    https://doi.org/10.1021/bi0001271
    Published May 26, 2000
    Copyright © Not subject to U.S. Copyright. Published 2000 American Chemical Society
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    Abstract

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    We have investigated the properties of mutant forms of the methyl-CpG binding transcriptional repressor MeCP2 associated with Rett syndrome, a childhood neurodevelopmental disorder. We find that four Rett syndrome mutations at known sites within the methyl-CpG binding domain (MBD) impair binding to methylated DNA, but have little effect on nonspecific interactions with unmethylated DNA. Three of these mutations (R106W, R133C, and F155S) have their binding affinities for methylated DNA reduced more than 100-fold; this is consistent with the hypothesis that impaired selectivity for methylated DNA of mutant MeCP2 contributes to Rett syndrome. However, a fourth mutant, T158M, has its binding affinity for methylated DNA reduced only 2-fold, indicative either of additional distinct regulatory functions associated with the MBD or of an exquisite sensitivity of developing neurons to the selective association of MeCP2 with methylated DNA.

    Copyright © Not subject to U.S. Copyright. Published 2000 American Chemical Society

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    ‡

     National Institutes of Health.

    §

     These authors made equal contributions to this work.

    ‖

     The George Washington University.

    *

     Corresponding author. Phone:  (301) 402-2722. Fax:  (301) 402-1323. E-mail:  [email protected].

    Cited By

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    This article is cited by 119 publications.

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    Biochemistry

    Cite this: Biochemistry 2000, 39, 24, 7100–7106
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    https://doi.org/10.1021/bi0001271
    Published May 26, 2000
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