A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome

By Jacky Guy, B. Hendrich, M. Holmes, Joanne E. Martin, A. Bird. Nature Genetics, 2001

1,637 citations recorded by the source corpus.

Subfields: Cognitive Neuroscience, Genetics, Molecular Biology

View Paper: https://www.semanticscholar.org/paper/c62fef8c88d361e6489bf610adb33da9476c7eb9

How researchers see this paper

The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.

In Cognitive Neuroscience

1. H. Zoghbi
2. Fred H. Gage
3. James Bradley Aimone
4. Maria H. Chahrour
5. Mark F. Bear
6. A. Bird
7. O. Marín
8. Michael E. Greenberg

In Genetics

1. H. Zoghbi
2. A. Bird
3. Maria H. Chahrour
4. Mark F. Bear
5. James Bradley Aimone
6. O. Marín
7. Michael E. Greenberg
8. Fred H. Gage

In Molecular Biology

1. H. Zoghbi
2. A. Bird
3. Yi Zhang
4. Maria H. Chahrour
5. Hao Wu
6. Michael E. Greenberg
7. O. Marín
8. Mark F. Bear

Citations in the corpus

• DNA Methylation and Its Basic Function (2013, background): “In mice, loss of MeCP2 in neurons is sufficient to recapitulate the majority of Rett symptoms (Chen et al, 2001; Guy et al, 2001).”
• Loss of silent-chromatin looping and impaired imprinting of DLX5 in Rett syndrome (2005, background): “Conditional knockout of Mecp2 in the mouse brain and in postmitotic neurons, as well as germline loss of Mecp2 , results in phenotypes that are similar to that of RT”
• Neuronal MeCP2 is expressed at near histone-octamer levels and globally alters the chromatin state (2010, background): “…are essential for its proper function, cular Cell 37, 457–468, February 26, 2010 ª2010 Elsevier Inc. 463 464 Molecular Cell 37, 457–468, February 26, 2010 ª2010 Elsevier Inc. as both deficiency and mild overexpression result in a neurological phenotype (Collins et al., 2004; Guy et al., 2001).”
• Rett Syndrome and Fragile X Syndrome: Different Etiology With Common Molecular Dysfunctions (2021, background): “However, all these measures can be dependent on the brain area and on the stage of development (He and Portera-Cailliau, 2013).”
• Synaptic dysfunction in neurodevelopmental disorders associated with autism and intellectual disabilities. (2012, background): “Mice lacking functional MeCP2 reproduce features of RTT (Chen et al. 2001; Guy et al. 2001; Shahbazian et al. 2002a; Pelka et al. 2006).”
• 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.”
• Brain-specific phosphorylation of MeCP2 regulates activity-dependent Bdnf transcription, dendritic growth, and spine maturation. (2006, background): “Knockout mouse models with disrupted MeCP2 function mimic many key clinical features of RTT, including normal early postnatal life followed by developmental regression that results in motor impairment, irregular breathing, hindlimb clasping, and early mortality (Chen et al., 2001; Guy et al., 2001; ”