Article
Genomic deletion of CNGB3 is identical by descent in multiple canine breeds and causes achromatopsia.
BMC genetics - 20 Apr 2013
Yeh Connie Y, Goldstein Orly, Kukekova Anna V, Holley Debbie, Knollinger Amy M, Huson Heather J, Pearce-Kelling Susan E, Acland Gregory M, Komáromy András M
Abstract excerpt
BACKGROUND: Achromatopsia is an autosomal recessive disease characterized by the loss of cone photoreceptor function that results in day-blindness, total colorblindness, and decreased central visual acuity. The most common causes for the disease are mutations in the CNGB3 gene, coding for the beta subunit of the cyclic nucleotide-gated channels in cones. CNGB3-achromatopsia, or cone degeneration (cd), is also...
Topics
- Animals
- Breeding
- Color Vision Defects
- Cyclic Nucleotide-Gated Cation Channels
- DNA Mutational Analysis
- Dog Diseases
- Dogs
- Founder Effect
- Genotype
- Linkage Disequilibrium