Dual/Joint/Adjunct Appointment

• Alternate RNA splicing
• Sex determination
• Animal models for disease

My lab has two distinct interests. One focus is on the mechanisms by which cells regulate RNA processing. Genome studies have revealed that many complex organisms have fewer genes than expected. One explanation for this lies in the fact that genes often generate alternative mRNAs and thus encode multiple distinct proteins. To produce alternative mRNAs, exons must be combined in different patterns during RNA splicing in a carefully controlled way. The choice of exon sequences that are picked is regulated by both splicing activator and repressor proteins which bind pre-mRNAs and act locally to either favor or block recognition of nearby splice sites by the spliceosome. We have found that splicing repression can be carried out by some of the same proteins that cause activation. These proteins interact with each other to form similar complexes, but ultimately have opposite effects on the RNA. By investigating how these complexes interact with the pre-mRNA splicing machinery we are gaining insight into the mechanisms of splicing regulation.

A second interest of the lab is in genetic models for muscular dystrophy. Recently we have developed a transgenic Drosophila model for facioscapulohumeral muscular dystrophy (FSHD) a poorly understood late-onset disease that affects specific muscle groups in humans. We are using genetic approaches to identify genes that reverse the muscle defects in these flies as a way to understand the molecular basis of the disease.

 View a complete list of Dr. Mattox's publications.

Last updated: 2/5/2013