Downs Louise M, Aguirre Gustavo D
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.
Adv Exp Med Biol. 2016;854:201-7. doi: 10.1007/978-3-319-17121-0_27.
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.
睫状体基因FAM161A和TTC8与人类和犬类的视网膜变性（RD）有关。在犬类RD中鉴定出FAM161A和TTC8突变令人兴奋，因为有潜力开发新型的RD大型动物模型。然而，犬类的疾病表型以及异常基因在疾病病理学中的作用尚未得到充分表征。本研究评估了FAM161A和TTC8在犬类正常视网膜发育过程中以及在三种非等位基因、早发性犬类RD模型（疾病的关键时间点：RCD1、XLPRA2和ERD）中的表达模式。这两个基因在RCD1和ERD中差异表达，但在XLPRA2中没有。这些结果为以下假设提供了证据：（a）许多视网膜基因的突变对多个可能不相关基因的表达具有级联效应；（b）一般来说，大量且广泛的基因可能导致RD。
