What is the function of MECP2?
Normal Function The MECP2 gene provides instructions for making a protein called MeCP2. This protein helps regulate gene activity (expression) by modifying chromatin, the complex of DNA and protein that packages DNA into chromosomes.
Where is the MECP2 gene located?
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. MECP2 is an important reader of DNA methylation. Its methyl-CpG-binding (MBD) domain recognizes and binds 5-mC regions.
How does MECP2 cause Rett syndrome?
Females have two copies of the X-chromosome. As such, they can inherit one copy of the X-chromosome that has a mutated MECP2 gene, while the MECP2 gene on the other copy of the X-chromosome is normal. This is what usually occurs in Rett syndrome.
What is MECP2 Rett syndrome?
Rett syndrome is a profound neurological disorder caused by mutations in the MECP2 gene, but preclinical research has indicated that it is potentially treatable. Progress towards this goal depends on the development of increasingly relevant model systems and on our improving knowledge of MeCP2 function in the brain.
Is MECP2 a gene?
The MECP2 gene provides instructions for making a protein called MeCP2 that is critical for normal brain function. Researchers believe that this protein has several functions, including regulating other genes in the brain by controlling when they are able to participate in protein production.
How many people have MECP2?
The prevalence of MECP2 duplication syndrome is unknown; more than 200 affected individuals have been described in the scientific literature. It is estimated that this condition is responsible for 1 to 2 percent of all cases of intellectual disability caused by changes in the X chromosome.
How long is the MECP2 gene?
The MECP2 gene comprises three exons (of which exon 3 is the largest, spanning 1084 bp) and encodes a 486 amino acid protein (28).
Why do only females get Rett syndrome?
Why is Rett syndrome usually only found in girls? Females have two copies of the X chromosome and males have one X and one Y chromosome. The MECP2 gene is found on the X chromosome, so females born with one normal and one changed copy of the MECP2 gene usually develop the symptoms of Rett syndrome.
Why does Rett syndrome only affect females?