title: FAM161A and TTC8 are Differentially Expressed in Non-Allelelic Early Onset Retinal Degeneration.
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.
authors.affiliation: Section of Ophthalmology, Department of Clinical Studies, School of Veterinary Medicine, University of Pennsylvania, Ryan-VHUP, Room 2050, 3900 Delancey St., 19104-6010, Philadelphia, PA, USA. loudowns@vet.upenn.edu.
authors.forename: Louise M
authors.initials: LM
authors.lastname: Downs
authors.affiliation: Section of Ophthalmology, Department of Clinical Studies, School of Veterinary Medicine, University of Pennsylvania, Ryan-VHUP, Room 2050, 3900 Delancey St., 19104-6010, Philadelphia, PA, USA. gda@vet.upenn.edu.
authors.forename: Gustavo D
authors.initials: GD
authors.lastname: Aguirre
mesh_terms: D000818:Animals; D004195:Disease Models, Animal; D004283:Dog Diseases / Q000235:genetics*; D004285:Dogs; D005136:Eye Proteins / Q000235:genetics*; D020869:Gene Expression Profiling; D006801:Humans; D009154:Mutation; D011506:Proteins / Q000235:genetics*; D012160:Retina / Q000378:metabolism / Q000473:pathology; D012162:Retinal Degeneration / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D013997:Time Factors
chemical_list: D005136:Eye Proteins; D011506:Proteins
keywords: Dog model; Expression study; FAM161A; Microtubules; Photoreceptor; Retinal degeneration; TTC8