Jon Robinson
Year entered program
2005
Undergraduate institution
Cornell University
Preceptor
Nicholas Katsanis
Thesis project
Primary cilia are cellular appendages originally thought vestigial organelles but recent work has demonstrated their involvement in a myriad of sensory functions. Defects in primary ciliary signaling are also implicated in human disorders collectively termed ciliopathies, which include Polycystic Kidney Disease, Bardet-Biedl (BBS), Meckel-Gruber (MKS), and Joubert Syndrome. Although there is a vast and growing number of proteins that have been shown to localize to the cilium and/or its anchor, a modified centriole termed the basal-body, the mechanism of targeting ciliary proteins remains completely elusive. One protein, MKS1, has been implicated recently in several ciliopathies, including MKS and BBS, has been shown to localize to the basal body, where it has been shown to be necessary for ciliogenesis. The C. Reinhardtii orthologue of MSK1 has been suggested to encode a core structural component of the centriole termed the B9 domain. Through searches of the human genome we have identified a total of three predicted proteins, MKS1, LOC80776 and EPPB9, encoding polypeptides with B9 domains. Interestingly, each of these three proteins has been predicted to serve as ciliary function as it is present in the integrated ciliary proteome (www.ciliaproteome.org), suggesting a cilia-specific role for the poorly characterized B9 domain. I am currently combining localization studies with mutational studies to further characterize the B9 domain and its importance in ciliary localization.
Publications
Book chapters
- "Oligogenic Disease." J.F. Robinson & N. Katsanis. Human Genetics Problems and Approaches 4th Edition, Ed: F. Vogel & A.G. Motulsky. Springer-Verlag Berlin Heidelberg New York: In Press.
Honors and awards
- Visual Neuroscience Training Program (VNTP) Grant
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