NDLI: IQCB1 and PDE6B mutations cause similar early onset retinal degenerations in two closely related terrier dog breeds.

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IQCB1 and PDE6B mutations cause similar early onset retinal degenerations in two closely related terrier dog breeds.

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IQCB1 and PDE6B mutations cause similar early onset retinal degenerations in two closely related terrier dog breeds.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Jordan, Julie Ann Acland, Gregory M. Aguirre, Gustavo D. Boyko, Adam R. Goldstein, Orly Gao, Chuan Mezey, Jason G. Schweitzer, Peter A. Bustamante, Carlos D.
Description	Author Affiliation: Goldstein O ( Baker Institute for Animal Health, Cornell University College of Veterinary Medicine, Ithaca, New York.)
Abstract	PURPOSE: To identify the causative mutations in two early-onset canine retinal degenerations, crd1 and crd2, segregating in the American Staffordshire terrier and the Pit Bull Terrier breeds, respectively. METHODS: Retinal morphology of crd1- and crd2-affected dogs was evaluated by light microscopy. DNA was extracted from affected and related unaffected controls. Association analysis was undertaken using the Illumina Canine SNP array and PLINK (crd1 study), or the Affymetrix Version 2 Canine array, the 'MAGIC' genotype algorithm, and Fisher's Exact test for association (crd2 study). Positional candidate genes were evaluated for each disease. RESULTS: Structural photoreceptor abnormalities were observed in crd1-affected dogs as young as 11-weeks old. Rod and cone inner segment (IS) and outer segments (OS) were abnormal in size, shape, and number. In crd2-affected dogs, rod and cone IS and OS were abnormal as early as 3 weeks of age, progressing with age to severe loss of the OS, and thinning of the outer nuclear layer (ONL) by 12 weeks of age. Genome-wide association study (GWAS) identified association at the telomeric end of CFA3 in crd1-affected dogs and on CFA33 in crd2-affected dogs. Candidate gene evaluation identified a three bases deletion in exon 21 of PDE6B in crd1-affected dogs, and a cytosine insertion in exon 10 of IQCB1 in crd2-affected dogs. CONCLUSIONS: Identification of the mutations responsible for these two early-onset retinal degenerations provides new large animal models for comparative disease studies and evaluation of potential therapeutic approaches for the homologous human diseases.
ISSN	01460404
e-ISSN	15525783
DOI	10.1167/iovs.13-12915
Journal	Investigative Opthalmology & Visual Science
Issue Number	10
Volume Number	54
Language	English
Publisher	Association for Research in Vision and Ophthalmology
Publisher Date	2013-10-25
Publisher Place	United States
Access Restriction	Open
Subject Keyword	Calmodulin-binding Proteins Genetics Cyclic Nucleotide Phosphodiesterases, Type 6 Genetic Predisposition To Disease Photoreceptor Cells, Vertebrate Metabolism Retinal Degeneration Animals Dna Mutational Analysis Disease Models, Animal Genome-wide Association Study Genotype Mutation Pedigree Pathology Comparative Study Research Support, N.i.h., Extramural Research Support, Non-u.s. Gov't Discipline Ophthalmology
Content Type	Text
Resource Type	Article
Subject	Ophthalmology Sensory Systems Cellular and Molecular Neuroscience

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