Abstract
Ciliary genes FAM161A and TTC8 have been implicated in retinal degeneration (RD) in humans and in dogs. The identification of FAM161A and TTC8 mutations in canine RD is exciting as there is the potential to develop novel large animal models for RD. However, the disease phenotypes in the dog and the roles of abnormal genes in disease pathology have yet to be fully characterized. The present study evaluated the expression patterns of FAM161A and TTC8 during normal retinal development in dogs, and in three non-allelic, early onset canine RD models at critical time points of the disease: RCD1, XLPRA2 and ERD. Both genes were differentially expressed in RCD1 and ERD, but not in XLPRA2. These results add evidence to the hypothesis that (a) mutations in many retinal genes have a cascade effect on the expression of multiple, possibly unrelated genes and (b) a large number and wide range of genes probably contribute to RD in general.
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Acknowledgments
We thank K. Carlisle and the staff of the Retinal Disease Studies Facility for animal care. This study was supported by Foundation Fighting Blindness (FFB), NIH Grants EY06855, EY017549, and 5P30EY001583–38, and the Van Sloun Fund for Canine Genetic Research.
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Downs, L., Aguirre, G. (2016). FAM161A and TTC8 are Differentially Expressed in Non-Allelelic Early Onset Retinal Degeneration. 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_27
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DOI: https://doi.org/10.1007/978-3-319-17121-0_27
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