Additional file 9: of RNA sequencing and proteomics approaches reveal novel deficits in the cortex of Mecp2-deficient mice, a model for Rett syndrome
Natasha PachecoMichael R. HeavenLeanne M. HoltDavid K. CrossmanKristin BoggioScott A. ShafferDaniel FlintMichelle L. Olsen
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List of 77 gene-protein matches (gene expression pKeywords:
Rett Syndrome
MeCP2
Rett Syndrome
MeCP2
Neurodevelopmental disorder
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Rett Syndrome
MeCP2
CpG site
Neurodevelopmental disorder
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Rett syndrome is a leading cause of postnatal neurodevelopmental regression. Rett syndrome is caused by mutations in MECP2, the gene encoding methyl-CpG binding protein 2. In up to 96% of all classic cases, Rett syndrome cases are caused by mutations or deletions in MECP2. The phenotypic spectrum of MECP2 mutations is broad and includes mental retardation with or without seizures, Angelman syndrome—like phenotype, and autism. Mecp 308/Y mice carry a truncating mutation and display many of the features seen in Rett syndrome. Social behavior abnormalities and impaired social interactions in Mecp 308/Y mice suggest that MeCP2 plays a role in modulating the activity of genes and neurons important for social interactions. Mice that overexpress MeCP2 at twice the endogenous levels develop a progressive neurologic disorder, demonstrating that MeCP2 levels are tightly regulated and raising the possibility that duplications or gain-of-function mutations of MECP2 might underlie some cases of neurodevelopmental X-linked disorders. ( J Child Neurol 2005;20:736—740).
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Rett Syndrome
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Angelman Syndrome
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Mutations in the MECP2 gene are known to be associated with Rett Syndrome (RTT) in the large majority of sporadic cases. Four Swedish families with a total of eight RTT patients (two in each family), were screened and found negative for MECP2 mutations. The series included females with both classical and forme fruste phenotypes. Rett syndrome thus might still be complex and genetically multifactorial.
Rett Syndrome
MeCP2
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Abstract Rett syndrome is a neurological disease of early postnatal brain growth found almost exclusively in girls and is the third most common cause, after Down syndrome and Fragile X syndrome, of severe mental retardation. Typically, girls with Rett syndrome show developmental regression including loss of communication and motor skills, stereotypic hand movements and a deceleration of head growth. The defective gene, methyl CpG binding protein 2 (Rett syndrome) (MECP2) is normally involved in the transcription silencing of genes (turning genes ‘off ’). In Rett syndrome, the MECP2 protein does not work properly in approximately half of the patient's cells due to X inactivation. This is thought to lead to inappropriate communication between MECP2‐positive and MECP2‐negative cells in the brain, and the Rett syndrome phenotype.
Rett Syndrome
MeCP2
Neurodevelopmental disorder
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Rett Syndrome
MeCP2
Brain Development
Brain Function
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MeCP2
Rett Syndrome
Null allele
Neurodevelopmental disorder
Angelman Syndrome
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MeCP2
Rett Syndrome
Loss function
CpG site
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Rett syndrome, one of the leading causes of mental retardation and developmental regression in girls, is the first pervasive developmental disorder with a known genetic cause. The majority of cases of sporadic Rett syndrome are caused by mutations in the gene encoding methyl-CpG-binding protein 2 (MeCP2). MeCP2 binds methylated DNA and likely regulates gene expression and chromatin structure. Genotype/phenotype analysis revealed that the phenotypic spectrum of MECP2 mutations in humans is broader than initially suspected: Mutations have been discovered in Rett syndrome variants, mentally retarded males, and autistic children. A variety of in vivo and in vitro models has been developed that allow analysis of MeCP2 function and pathogenic studies of Rett syndrome. Because the neuropathology of Rett syndrome shares certain features with other neurodevelopmental disorders, a common pathogenic process may underlie these disorders. Thus, Rett syndrome is a prototype for the genetic, molecular, and neurobiological analysis of neurodevelopmental disorders.
Rett Syndrome
MeCP2
Neurodevelopmental disorder
Angelman Syndrome
Microcephaly
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