A Molecular Partnership between Cep290 and Sans Affects the Function of Primary Cilia in Body Axis Development
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Date
2020
Authors
Culbert, Joseph Richard
Journal Title
Journal ISSN
Volume Title
Publisher
University of Oregon
Abstract
Usher syndrome is the most common cause of hereditary deaf-blindness. The most severe type of Usher syndrome, type 1 (USH1), can be caused by mutations in any one of 7 genes. Individuals with USH1 are born deaf and have progressive vision loss. One of the seven causative USH1 genes, USH1G, encodes the protein Ush1g. This thesis will refer to the gene USH1G as SANS, and the protein Ush1g as Sans because of the previous works describing them as such. Sans has many protein interaction domains, enabling it to act as a scaffold for assembling multiple proteins in the same cellular location. Research conducted by our collaborators sought to identify proteins that physically interact with Sans. Using a particular domain of Sans as “bait”, they detected an interaction with the protein Cep290. Cep290 has been implicated in a range of disorders involving cellular structures called primary cilia. Cilia influence the flow of fluids through tissues or organs, including the flow of cerebrospinal fluid, and are involved in the transport of molecules between distinct parts of the cell. Diseases resulting from genetic defects in the formation or function of cilia are known collectively as ciliopathies.
Description
54 pages
Keywords
Biology, Usher Syndrome, Scoliosis, Cep290, Sans, Westerfield, Zebrafish