Research Awards
Satoko Matsumura, D.D.S., Ph.D.
New York University
Mentor: Angus Wilson
Uncovering a role for MeCP2 as an activator of gene expression
$97,808
Lay Progress Report (August 2005)
It is well established that mutations in MeCP2 protein contribute to the neurological symptoms associated with Rett Syndrome (RTT) in young women. Considerable effort has been devoted to understanding the function of MeCP2 at both the cellular and molecular level. With the generous support of the RSRF, I have been able to show using various biochemical approaches that the MeCP2 protein interacts with DMAP1, a subunit of the so-called "maintenance CpG methylase" enzyme complex. This enzyme is responsible for copying patterns of DNA methylation when cells divide or repair parts of the chromosome that have been damaged. These methylated CpGs act as landing sites for MeCP2, which in turn controls the expression of nearby genes. It is likely that RTT results from subtle changes in the patterns of methylation or ability of MeCP2 to be recruited to methylated DNA. My current studies will focus on the functional consequences of the MeCP2-DMAP1 interaction and the important question of whether altered DMAP1 function contributes to RTT.
Satoko Matsumura, D.D.S., Ph.D.New York University
Mentor: Angus Wilson
Uncovering a role for MeCP2 as an activator of gene expression
$97,808
Lay Progress Report (August 2005)
It is well established that mutations in MeCP2 protein contribute to the neurological symptoms associated with Rett Syndrome (RTT) in young women. Considerable effort has been devoted to understanding the function of MeCP2 at both the cellular and molecular level. With the generous support of the RSRF, I have been able to show using various biochemical approaches that the MeCP2 protein interacts with DMAP1, a subunit of the so-called "maintenance CpG methylase" enzyme complex. This enzyme is responsible for copying patterns of DNA methylation when cells divide or repair parts of the chromosome that have been damaged. These methylated CpGs act as landing sites for MeCP2, which in turn controls the expression of nearby genes. It is likely that RTT results from subtle changes in the patterns of methylation or ability of MeCP2 to be recruited to methylated DNA. My current studies will focus on the functional consequences of the MeCP2-DMAP1 interaction and the important question of whether altered DMAP1 function contributes to RTT.