Abstract
Mutations in USH2A, ADGRV1, and WHRN genes cause Usher syndrome type 2 (USH2) and retinitis pigmentosa (RP). The proteins encoded by these genes form the periciliary membrane complex (PMC) in photoreceptors. Unlike patients, who show retinal degeneration in their second decade of life, mice carrying USH2 mutations have very-late-onset retinal degeneration, although the PMC is disrupted. A similar weak retinal degeneration phenotype was also reported in ush2a mutant zebrafish. The lack of appropriate USH2 animal models hinders our understanding on PMC function in photoreceptors and retinal pathogenesis caused by USH2 mutations. In this study, we examined the molecular composition of the PMC and the morphology of the PMC and its surrounding subcellular structure in Syrian hamster photoreceptors. We demonstrate that the PMC and its neighboring structure in hamsters are similar to those in mice. Therefore, the Syrian hamster may not offer advantages over the mouse as an animal model for USH2 pathogenic studies.
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Acknowledgments
This work was supported by the National Eye Institute grants EY020853 (JY), EY026521 (JY), and EY014800 (core) and Research to Prevent Blindness (Department of Ophthalmology and Visual Sciences at the University of Utah). We thank Robert Marc, Bryan Jones, Jia-hui Yang, Kevin Rapp, Carl Watt, and Rebecca Pfeiffer (University of Utah) for assistance with TEM.
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Zou, J., Li, R., Wang, Z., Yang, J. (2019). Studies of the Periciliary Membrane Complex in the Syrian Hamster Photoreceptor. In: Bowes Rickman, C., Grimm, C., Anderson, R., Ash, J., LaVail, M., Hollyfield, J. (eds) Retinal Degenerative Diseases. Advances in Experimental Medicine and Biology, vol 1185. Springer, Cham. https://doi.org/10.1007/978-3-030-27378-1_89
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DOI: https://doi.org/10.1007/978-3-030-27378-1_89
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