The human Usher syndrome (USH) is a complex ciliopathy leading to combined deaf-blindness. To get insights into the molecular function of USH proteins, the speaker aims to identify protein interactions that disclose functional modules related to USH protein complexes in the cell. For this, he performed yeast-2-hybrid screens of retinal cDNA libraries and tandem affinity purifications (TAP) in combination with mass spectrometry and subsequently validated the putative interactions by complementary interactional assays and functional tests.
In this lecture, the speaker will focus on the USH1G protein SANS (scaffold protein containing ankyrin repeats and SAM domain). He identified binding partners and protein complexes which indicate that SANS participates in several cell modules such as endocytosis, intracellular transport, membrane-membrane adhesion, primary ciliogenesis, ciliary maintenance and pre-mRNA splicing. He will highlight the molecular basis of these protein-protein interactions, their impact on the cell function in normal conditions and will discuss the pathophysiology caused by SANS defects leading to the sensory neuronal degeneration in USH patients.
About the speaker
Prof. Uwe Wolfrum received his PhD in Biology from the University of Regensburg in 1991. He joined the University of Karlsruhe as a Research Associate before moving to the Johannes Gutenberg University Mainz in 1999. He is currently the Professor of Biology at Johannes Gutenberg University Mainz.
Prof. Wolfrum’s research aims to understand the basic cellular mechanisms by which cytoskeletal molecules and protein complexes contribute to the function and viability of sensory cells. His research focuses on ciliated sensory cells: olfactory cells in the nose, hair cells in the inner ear, but predominantly on photoreceptor cells in the retina. The results of these approaches allow him to elucidate mechanisms of retinal degeneration and evaluate gene therapeutic strategies.
Prof. Wolfrum received the Foundation Fighting Blindness Board of Directors Award (2008).
