MECP2 Human

Methyl CpG Binding Protein 2 (MECP2) is a critical protein involved in the regulation of gene expression through its interaction with methylated DNA. This protein is encoded by the MECP2 gene, which is located on the X chromosome in humans. MECP2 plays a significant role in the development and function of the nervous system, and its dysfunction is associated with several neurological disorders, most notably Rett syndrome.

MECP2 contains a methyl-CpG-binding domain (MBD) that allows it to specifically bind to methylated CpG dinucleotides in the DNA. This binding is crucial for the protein’s role in gene regulation. MECP2 can act as both a transcriptional repressor and activator, depending on the context. It interacts with other proteins to form complexes that can either silence or activate gene expression .

MECP2 is highly expressed in mature neurons and is essential for their normal function. It is involved in the maturation of the central nervous system and the formation of synaptic contacts. The protein’s ability to regulate gene expression is vital for neuronal development and plasticity .

Mutations in the MECP2 gene are the primary cause of Rett syndrome, a severe neurological disorder that predominantly affects females. Rett syndrome is characterized by normal early development followed by a loss of acquired skills, motor abnormalities, and cognitive impairment. Over 50 different mutations in the MECP2 gene have been identified in individuals with Rett syndrome .

Human recombinant MECP2 is produced using recombinant DNA technology, where the MECP2 gene is inserted into an expression system, such as insect cells, to produce the protein. This recombinant protein is often tagged with a His-tag to facilitate purification using techniques like Fast Protein Liquid Chromatography (FPLC). Human recombinant MECP2 retains the ability to bind methylated CpG sequences and can be used in various research applications to study its function and role in gene regulation .

Research on MECP2 has provided significant insights into the mechanisms of gene regulation and the pathogenesis of Rett syndrome. Studies have shown that MECP2 is involved in the regulation of multiple genes and is crucial for maintaining the normal function of neurons. The availability of human recombinant MECP2 has enabled researchers to conduct detailed studies on its structure, function, and interactions with other proteins .