Carl Thummel, Ph.D.

Human Genetics

E-mail: carl.thummel@genetics.utah.edu
Address: 5200 Eccles Institute of Human Genetics
Phone: 581-2937

Research Title: Regulation of development and metabolism by nuclear
receptors and their hormonal ligands


Research description:  

A major effort underway in the Thummel lab is to define roles for nuclear hormone receptors in development, growth, and metabolism, using the fruit fly Drosophila as a model system. The Drosophila genome encodes 18 canonical nuclear receptors, with representatives of all the major human classes, providing the smallest complete set of receptors known in any genetic model system (King-Jones and Thummel, 2005). We have determined the temporal profiles of expression for all detectable nuclear
receptor genes during the major steroid-triggered transitions in the life cycle (Sullivan and Thummel, 2003). We are continuing our reverse genetic characterization of this gene family, focusing on nuclear receptors that have close mammalian homologs, in an effort to understand their functions during development. We analyze the phenotypes associated with both loss-of-function and gain-of-function mutations as a means of determining gene function. By raising antibodies against the encoded proteins we can determine their spatial patterns of expression as well as identify potential direct transcriptional targets in chromatin. We use microarrays to determine the effects of loss-of-function and gain-of-function mutations on gene expression, and class if these targets into functional groups by bioinformatics. Most recently, we have used metabolic profiling by GC/MS to determine effects of nuclear receptor
mutations on specific metabolic pathways, linking these functions to key target genes identified in our microarray studies as well as specific developmental defects. Current work is focused on dERR, DHR38, DHR78, DHR96, and dHNF4. We also use transgenic animals that carry the GAL4 DNA binding domain fused to the ligand binding domains (LBDs) of nuclear receptors as a
means of determining when and where hormones or critical co-factors are present in the animal. These studies have identified novel agonists for some nuclear receptors, preferred sites of LBD activation in tissues associated with lipid metabolism, and dynamic changes in activation indicative of novel hormones or cofactors that regulate receptor function. Taken together, these studies should clarify the roles of nuclear receptors in development, growth and metabolism, and provide critical new insights into the regulation and function of their human orthologs.

Does this research involve human subjects or animals?  no

If yes, what is the protocol number?

10/20/06


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