News tagged with mecp2
MECP2
MECP2 (methyl CpG binding protein 2 (Rett syndrome)) is a gene that provides instructions for making its protein product, MECP2, also referred to as MeCP2. MECP2 appears to be essential for the normal function of nerve cells. The protein seems to be particularly important for mature nerve cells, where it is present in high levels. The MeCP2 protein is likely to be involved in turning off ("repressing" or "silencing") several other genes. This prevents the genes from making proteins when they are not needed. Recent work has shown that MeCP2 can also activate other genes. The MECP2 gene is located on the long (q) arm of the X chromosome in band 28 ("Xq28"), from base pair 152,808,110 to base pair 152,878,611.
DNA methylation is the major modification of eukaryotic genomes and plays an essential role in mammalian development. Human proteins MECP2 (this protein), MBD1, MBD2, MBD3, and MBD4 comprise a family of nuclear proteins related by the presence in each of a methyl-CpG binding domain (MBD). Each of these proteins, with the exception of MBD3, is capable of binding specifically to methylated DNA. MECP2, MBD1 and MBD2 can also repress transcription from methylated gene promoters. In contrast to other MBD family members, MECP2 is X-linked and subject to X inactivation. MECP2 is dispensible in stem cells. MECP2 gene mutations are the cause of most cases of Rett syndrome, a progressive neurologic developmental disorder and one of the most common causes of mental retardation in females.
For more information about MECP2, read the full article at
Wikipedia.
This text uses material from Wikipedia and is available under the GNU Free Documentation License.
Brain and heart link may explain sudden death in Rett
Poets might scoff at the notion that heart and brain are closely related, but scientists led by those at Baylor College of Medicine (www.bcm.edu) say a genetic defect that affects the brain can stop a heart.
Dec 14, 2011 |
4.5 / 5 (2) |
0
|
Developmental disease is recreated in an adult model
A new study published today in the journal Science has shown that the childhood disorder Rett syndrome, can be reestablished in adult animals by "switching off" a critical disease causing gene in healthy adult animals. The g ...
Jun 02, 2011 |
4 / 5 (2) |
0
Rett protein MeCP2 needed for proper adult neuron function
The protein MeCP2 is porridge to the finicky neuron. Like Goldilocks, the neuron or brain cell needs the protein in just the right amount. Girls born with dysfunctional MeCP2 (methyl-CpG-binding protein 2) develop Rett syndrome, ...
Medicine & Health / Neuroscience
Jun 02, 2011 |
not rated yet |
0
|
Inhibitory neurons key to understanding neuropsychiatric disorders
The brain works because 100 billion of its special nerve cells called neurons regulate trillions of connections that carry and process information. The behavior of each neuron is precisely determined by the proper function ...
Nov 10, 2010 |
4.3 / 5 (6) |
0
|
MeCP2 goes global -- redefining the function of the Rett syndrome protein
A paper published online today in Molecular Cell proposes that Methyl CpG binding protein 2 (MeCP2) impacts the entire genome in neurons, rather than acting as a regulator of specific genes. Mutations in MeCP2 cause the au ...
Feb 25, 2010 |
not rated yet |
0
Common variation in gene linked to structural changes in the brain
An international group of researchers is the first to show that common variations in a gene - previously shown to be associated with Retts Syndrome, autism, and mental retardation - are associated with differences in brain ...
Aug 17, 2009 |
4 / 5 (1) |
0
Rett Syndrome scientist makes significant discovery
A paper published online today in Nature Neuroscience reveals the presence of methyl CpG binding protein 2 (MeCP2) in glia. MeCP2 is a protein associated with a variety of neurological disorders, including Rett Syndrome, the mo ...
Feb 23, 2009 |
5 / 5 (4) |
0