MeCP2 links heterochromatin condensates and neurodevelopmental disease

CH Li, EL Coffey, A Dall'Agnese, NM Hannett, X Tang… - Nature, 2020 - nature.com
Abstract Methyl CpG binding protein 2 (MeCP2) is a key component of constitutive
heterochromatin, which is crucial for chromosome maintenance and transcriptional …

Radically truncated MeCP2 rescues Rett syndrome-like neurological defects

R Tillotson, J Selfridge, MV Koerner, KKE Gadalla… - Nature, 2017 - nature.com
Heterozygous mutations in the X-linked MECP2 gene cause the neurological disorder Rett
syndrome. The methyl-CpG-binding protein 2 (MeCP2) protein is an epigenetic reader …

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

RZ Chen, S Akbarian, M Tudor, R Jaenisch - Nature genetics, 2001 - nature.com
Mecp2 is an X-linked gene encoding a nuclear protein that binds specifically to methylated
DNA (ref. 1) and functions as a general transcriptional repressor by associating with …

Rett syndrome-causing mutations compromise MeCP2-mediated liquid–liquid phase separation of chromatin

L Wang, M Hu, MQ Zuo, J Zhao, D Wu, L Huang, Y Wen… - Cell research, 2020 - nature.com
Rett syndrome (RTT), a severe postnatal neurodevelopmental disorder, is caused by
mutations in the X-linked gene encoding methyl-CpG-binding protein 2 (MeCP2). MeCP2 is …

Loss of silent-chromatin looping and impaired imprinting of DLX5 in Rett syndrome

S Horike, S Cai, M Miyano, JF Cheng… - Nature …, 2005 - nature.com
Mutations in MECP2 are associated with Rett syndrome, an X-linked neurodevelopmental
disorder. To identify genes targeted by Mecp2, we sequenced 100 in vivo Mecp2-binding …

Reversal of phenotypes in MECP2 duplication mice using genetic rescue or antisense oligonucleotides

Y Sztainberg, H Chen, JW Swann, S Hao, B Tang… - Nature, 2015 - nature.com
Copy number variations have been frequently associated with developmental delay,
intellectual disability and autism spectrum disorders. MECP2 duplication syndrome is one of …

MeCP2 binds cooperatively to its substrate and competes with histone H1 for chromatin binding sites

RP Ghosh, RA Horowitz-Scherer… - … and cellular biology, 2010 - Am Soc Microbiol
Sporadic mutations in the hMeCP2 gene, coding for a protein that preferentially binds
symmetrically methylated CpGs, result in the severe neurological disorder Rett syndrome …

A role for glia in the progression of Rett's syndrome

DT Lioy, SK Garg, CE Monaghan, J Raber, KD Foust… - Nature, 2011 - nature.com
Rett's syndrome (RTT) is an X-chromosome-linked autism spectrum disorder caused by loss
of function of the transcription factor methyl-CpG-binding protein 2 (MeCP2). Although …

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

J Guy, B Hendrich, M Holmes, JE Martin, A Bird - Nature genetics, 2001 - nature.com
Rett syndrome (RTT) is an inherited neurodevelopmental disorder of females that occurs
once in 10,000–15,000 births 1, 2. Affected females develop normally for 6–18 months, but …

Activity-dependent phosphorylation of MeCP2 threonine 308 regulates interaction with NCoR

DH Ebert, HW Gabel, ND Robinson, NR Kastan, LS Hu… - Nature, 2013 - nature.com
Rett syndrome (RTT) is an X-linked human neurodevelopmental disorder with features of
autism and severe neurological dysfunction in females. RTT is caused by mutations in …