A central goal of the Fragile X REA is to understand the molecular organization at the FMR1 locus through research on chromatin structure; epigenetic signaling through DNA methylation, including stem cells; transcriptional control, especially as influenced by CTCF protein; sense and antisense transcripts from the Fragile X region and their functions; control of RNA processing to give the various FMR-protein isoforms; and origins and timing of DNA replication. Investigators in our REA group, in cooperation with the Neurodegenerative Disorders REA, are also examining the neurogenetic effects of over-expression of this locus in a mouse model of FXTAS. Additional work investigating possible common neural correlates of Fragile X syndrome and autism is also being pursued.
|Administering College/School:||School of Medicine|
|P.I. Home Department:||Center on Human Development and Disability|