Mecp2 Research Paper

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MECP2 is a chromatin-associated protein which binds to DNA that is methylated at CpG sites and can activate as well as repress transcription. MECP2 is mapped on the X chromosome at Xq28 and is subject to X chromosome inactivation (XCI), thus the condition is lethal in males and if the foetuses reach full term they normally do not survive after birth. According to Matijevic et al. 2009, the rare cases of males with mutations in the MECP2 gene is mostly associated with different types of mosaicism or even some moderate forms of mutations (Matijevic T., 2009). Research involving mouse cells and in situ immunofluorescence has revealed that the protein is present throughout the chromosome arms, but is more concentrated in the pericentromeric heterochromatin. MECP2 is developmentally regulated in humans as well as mice and is also essential for maturation of neurons. Despite decades of research on Rett syndrome and MECP2 function, it is still uncertain how MECP2 regulates transcription but also why RTT characteristics appear 6-18 months after birth.…show more content…
The fourth exon of the MECP2 gene is the largest one; it contains a larger than 8.5 kb 3′-untranslated region, with numerous polyadenylation sites that enable the generation of multiple transcripts varying in size. Alternative polyadenylation in the 3′-untranslated region gives rise in a highly expressed 10.1-kb transcript in the foetal brain and a 5-kb transcript in the adult brain (Coy JF.,
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