Abstract
The photoreceptor specific tetraspanin protein retina degeneration slow (RDS) is a critical component of the machinery necessary for the formation of rod and cone outer segments. Over 80 individual pathogenic mutations in RDS have been identified in human patients that lead to a wide variety of retinal degenerative diseases including retinitis pigmentosa, cone-rod dystrophy, and various forms of macular dystrophy. RDS-associated disease is characterized by a high degree of variability in phenotype and penetrance, making analysis of the underlying molecular mechanisms of interest difficult. Here we summarize our modern understanding of RDS functional domains and oligomerization and how disruption of these domains and complexes could contribute to the variety of disease pathologies seen in human patients with RDS mutations.
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Acknowledgements
This work was supported by the National Institutes of Health (EY010609-MIN, T32EY023202-MWS), the Foundation Fighting Blindness, and the Oklahoma Center for the Advancement of Science and Technology.
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Stuck, M., Conley, S., Naash, M. (2016). RDS Functional Domains and Dysfunction in Disease. In: Bowes Rickman, C., LaVail, M., Anderson, R., Grimm, C., Hollyfield, J., Ash, J. (eds) Retinal Degenerative Diseases. Advances in Experimental Medicine and Biology, vol 854. Springer, Cham. https://doi.org/10.1007/978-3-319-17121-0_29
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DOI: https://doi.org/10.1007/978-3-319-17121-0_29
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