Methyl-CpG binding protein 2 (MeCP2) was first identified in 1992 as a protein that binds
specifically to methylated DNA. Mutations in the MECP2 gene were later found to be the cause …

In September of 2011, the National Institute of Neurological Disorders and Stroke (NINDS),
the Eunice Kennedy Shriver National Institute of Child Health and Human Development (…

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 then …

Rett syndrome is an autism spectrum disorder caused by mosaic expression of mutant copies
of the X-linked MECP2 gene in neurons. However, neurons do not die, which suggests …

CpG islands (CGIs) are prominent in the mammalian genome owing to their GC-rich base
composition and high density of CpG dinucleotides 1 , 2 . Most human gene promoters are …

Rett syndrome (RTT) is a severe neurological disorder that is caused by mutations in the
MECP2 gene. Many missense mutations causing RTT are clustered in the DNA-binding domain …

The mammalian protein MBD4 contains a methyl-CpG binding domain and can enzymatically
remove thymine (T) or uracil (U) from a mismatched CpG site in vitro. These properties …

Human and mouse genomes contain a similar number of CpG islands (CGIs), which are
discrete CpG-rich DNA sequences associated with transcription start sites. In both species, ∼50…

The functional relevance of brain-derived neurotrophic factor (BDNF) is beginning to be well
appreciated not only in mice, but also in humans. Because reduced levels typically correlate …

Rett syndrome (RTT) is a severe neurological disorder caused by mutations in the X-linked
MECP2 gene, which encodes a methyl-CpG binding transcriptional repressor. Using the …