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MECP2 Gene

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Encyclopedia of Autism Spectrum Disorders

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Synonyms

Methyl CpG-binding protein 2

Definition

MECP2 is the primary gene implicated in Rett Syndrome, a neurodevelopmental disorder that primarily affects females. MECP2 is a gene located on the X chromosome that encodes the protein Methyl CpG-binding protein 2 (MECP2). Inactivation of a single copy of MECP2 leads to impaired language, social skills, and motor coordination, as well as scoliosis, dysregulated breathing, and seizures in females. Deletion of both copies of MECP2 in mice mimics the symptoms of Rett Syndrome. Duplication in MECP2 gene has been implicated in severe male intellectual disability–associated premature death. MECP2 is expressed throughout the body with strongest expression in neurons. MECP2 functions as a transcriptional repressor, thus turning off expression of other genes.

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Reference and Reading

  • Amir, R. E., Van den Veyver, I. B., Wan, M., Tran, C. Q., Francke, U., & Zoghbi, H. Y. (1999). Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nature Genetics, 23(2), 185–188.

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  • Guy, J., Hendrich, B., Holmes, M., Martin, J. E., & Bird, A. (2001). A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome. Nature Genetics, 27(3), 322–326. https://doi.org/10.1038/85899.

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  • Lombardi, L. M., Baker, S. A., & Zoghbi, H. Y. (2015). MECP2 disorders: from the clinical to mice and back. The Journal of Clinical Investigation, 125(8), 2914–2923.

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Authors and Affiliations

  1. Child Study Center, Yale School of Medicine, New Haven, CT, USA

    Kartik Pattabiraman

  2. Department of Psychiatry, Yale School of Medicine, New Haven, CT, USA

    Kartik Pattabiraman

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  1. Kartik Pattabiraman
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Correspondence to Kartik Pattabiraman .

Editor information

Editors and Affiliations

  1. Yale Child Study Center, New Haven, CT, USA

    Fred R. Volkmar

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Pattabiraman, K. (2018). MECP2 Gene. In: Volkmar, F. (eds) Encyclopedia of Autism Spectrum Disorders. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-6435-8_102088-1

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  • DOI: https://doi.org/10.1007/978-1-4614-6435-8_102088-1

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  • Publisher Name: Springer, New York, NY

  • Print ISBN: 978-1-4614-6435-8

  • Online ISBN: 978-1-4614-6435-8

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