The Gorrell Lab

Shwachman-Diamond Syndrome is a rare autosomal recessive genetic disorder comprising pancreatic insufficiency, bone marrow failure, and skeletal abnormalities. It is caused by a mutation in the Shwachman-Bodian Diamond Syndrome (SBDS) protein, which to date, has been shown to be involved in ribosome biogenesis; however, its specific function is yet to be clearly determined. My thesis will utilize the halophilic archaeon, Haloarcula marismortui, to further define the function of the SBDS protein through the use of techniques such as gene knockout, complementation, and protein cross-linking experiments. This specific species is widely utilized as a model organism for modeling the eukaryotic ribosome, making it an ideal candidate for further ribosome related study. If time permits a comparative study will be conducted using the extremely acidophilic thermophile, Ferroplasma acidarmanus, which will hopefully identify this species as a secondary model organism for ribosomal research as well as provide further insight into any differences between halophilic and acidophilic archaeal systems.