What type of protein is MeCP2?

What type of protein is MeCP2?

methyl-CpG-binding protein family13
MeCP2 is a member of the methyl-CpG-binding protein family13 and contains three main functional domains: the MBD, the TRD, and a C-terminal domain, in addition to two nuclear localization signals (NLS). The MBD specifically binds to methylated DNA, with preference for CG and CA dinucleotide sequences14,17–19.

What does the MeCP2 protein do?

In the brain, the MeCP2 protein is important for the function of several types of cells, including nerve cells (neurons). The protein likely plays a role in maintaining connections (synapses) between neurons, where cell-to-cell communication occurs.

How does MeCP2 cause Rett syndrome?

Inheritance of 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.

How does MeCP2 affect Angelman Syndrome?

The Rett syndrome gene is MeCP2, which regulates the expression of thousands of other genes. Mutations and deletions of UBE3A, which helps dispose of unwanted proteins, lead to Angelman syndrome.

Is MECP2 a transcription factor?

Mecp2 is a transcription factor that functions mostly as a gene repressor by binding to methylated DNA at methyl-CpG sites (Nan et al., 1998; Fuks et al., 2003).

How many exons are in MECP2 gene?

four exons
MECP2 gene comprises four exons and three introns that are alternatively spliced to generate two transcript isoforms MECP2-E1 and MECP2-E2. The methylation of DNA regulatory elements in the MECP2 promoter, and first intron have been shown to differentially affect abundances of the splicing isoforms.

How does MECP2 regulate gene expression?

Our findings indicate that MeCP2, in addition to direct DNA binding, can interact with chromatin via histone protein and that MeCP2 interaction with histone post-translational modifications (PTMs) plays significant roles in transcription regulation.

What causes mutation in MECP2?

Most cases of Rett syndrome are caused by a change (also called a mutation) in a single gene. In 1999, NICHD-supported scientists discovered that most classic Rett syndrome cases are caused by a mutation within the Methylcytosine-binding protein 2 (MECP2) gene. The MECP2 gene is located on the X chromosome.

Is Rett syndrome codominant?

Classic Rett syndrome is most commonly caused by genetic changes in the MECP2 gene and is usually inherited in an X-linked dominant manner. The vast majority of cases are not inherited from a parent, but are due to a new genetic change in the affected person.

How is Angelman syndrome inherited?

Normally, only the maternal copy of the UBE3A gene is active in the brain. Most cases of Angelman syndrome occur when part of the maternal copy is missing or damaged. In a few cases, Angelman syndrome is caused when two paternal copies of the gene are inherited, instead of one from each parent.

Is Rett syndrome dominant or recessive?

Rett syndrome (RTT) is an X-linked dominant disorder predominantly affecting females, associated in 96% of affected individuals with mutations in the gene, methyl-CpG-binding protein 2 (MECP2) and characterized by apparently normal early development followed by a regression with loss of fine motor skills and effective …

How does the MECP2 protein work?

The MeCP2 protein binds to forms of DNA that have been methylated. The MeCP2 protein then interacts with other proteins to form a complex that turns off the gene. MeCP2 prefers to bind to sites on the genome with a chemical alteration made to a cytosine (C) when it occurs in a particular DNA sequence, ” CpG “. This is a form of DNA methylation.

What is the MECP2 mutation?

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 cognitive disability in females. At least 53 disease-causing mutations in this gene have been discovered.

Which proteins are required for mecp2-mediated transcriptional repression?

“The Ski protein family is required for MeCP2-mediated transcriptional repression”. J. Biol. Chem. 276 (36): 34115–21. doi: 10.1074/jbc.M105747200. PMID 11441023. ^ Klein ME, Lioy DT, Ma L, Impey S, Mandel G, Goodman RH (December 2007). “Homeostatic regulation of MeCP2 expression by a CREB-induced microRNA”. Nat.

Where is MECP2 located on the X chromosome?

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.