Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice

By Richard Z. Chen, S. Akbarian, M. Tudor, R. Jaenisch. Nature Genetics, 2001

1,306 citations recorded by the source corpus.

Subfields: Cognitive Neuroscience, Genetics, Molecular Biology

View Paper: https://www.semanticscholar.org/paper/93424b87ccb93c3307ba5205a767b11c773c8e29

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In Cognitive Neuroscience

1. Fred H. Gage
2. James Bradley Aimone
3. H. Zoghbi
4. Mark F. Bear
5. Chunmei Zhao
6. A. Bird
7. B. Barres
8. Wei Deng

In Genetics

1. H. Zoghbi
2. James Bradley Aimone
3. Mark F. Bear
4. Fred H. Gage
5. Robert S. Illingworth
6. Xinyu Zhao
7. Nicholas J. Santistevan
8. A. Bird

In Molecular Biology

1. H. Zoghbi
2. A. Bird
3. Mark F. Bear
4. Robert S. Illingworth
5. G. Fan
6. Xinyu Zhao
7. Nicholas J. Santistevan
8. A. Molofsky

Citations in the corpus

• Mild overexpression of MeCP2 causes a progressive neurological disorder in mice. (2004, background): “Mice null for MeCP2 (MeCP2) (23) and mice that contain only a C-terminal fragment of MeCP2 (24) display a severe neurological phenotype that results in death in early adulthood in males.”
• The story of Rett syndrome: from clinic to neurobiology. (2007, neutral): “The brains of Mecp2 null mice are smaller in size and weight than brains of wild-type littermates, but have no detectable structural abnormalities, except for smaller, more densely packed neurons.”
• One-step generation of mice carrying reporter and conditional alleles by CRISPR/Cas mediated genome engineering (2013, neutral): “To derive conditional mutant mice similar to those previously described using traditional homologous recombinationmethods in ES cells (Chen et al., 2001), we designed two sgRNAs targeting Mecp2 intron 2 (L1, L2) and two sgRNAs targeting intron 3 (R1, R2), as well as the corresponding loxP site oligo”
• REST and its corepressors mediate plasticity of neuronal gene chromatin throughout neurogenesis. (2005, background): “Although MeCP2 represses genes outside and within the nervous system, inexplicably, the effects of MeCP2 mutations in RTT patients and mouse models are observed primarily in the nervous system (Chen et al., 2001; Guy et al., 2001; Shahbazian et al., 2002).”
• DNA methylation patterns and epigenetic memory. (2002, background): “Targeted mutation of the gene for MeCP2 is, however, associated with neurological dysfunction in humans and mice (Amir et al. 1999; Chen et al. 2001; Guy et al. 2001), and mutation of the mouse Mbd2 gene leads to a maternal behavior defect (Hendrich et al.”
• Mecp2 deficiency leads to delayed maturation and altered gene expression in hippocampal neurons. (2007, methodology): “TheMecp2 KO mice (Mecp2) used in this study were created by deleting exons 3 containing the MBD domain of Mecp2 (Chen et al., 2001).”
• Astrocytes and disease: a neurodevelopmental perspective. (2012, background): “Early studies showed that expression of Mecp2 in postmitotic neurons led to variable recovery from the cellular and behavioral phenotypes of Mecp2 deficiency; these groups also failed to detect MeCP2 in glia (Chen et al. 2001; Luikenhuis et al. 2004).”
• Neuronal MeCP2 is expressed at near histone-octamer levels and globally alters the chromatin state (2010, background): “The Mecp2 null mouse recapitulates several features of Rett syndrome, showing a late-onset neurodevelopmental phenotype leading to death at 12 weeks (Chen et al., 2001; Guy et al., 2001).”