Document Type

Journal Article

Date of this Version

2-2012

Publication Source

Mammalian Genome

Volume

23

Issue

1-2

Start Page

40

Last Page

61

DOI

10.1007/s00335-011-9361-3

Abstract

Considerable clinical and molecular variations have been known in retinal blinding diseases in man and also in dogs. Different forms of retinal diseases occur in specific breed(s) caused by mutations segregating within each isolated breeding population. While molecular studies to find genes and mutations underlying retinal diseases in dogs have benefited largely from the phenotypic and genetic uniformity within a breed, within- and across-breed variations have often played a key role in elucidating the molecular basis. The increasing knowledge of phenotypic, allelic, and genetic heterogeneities in canine retinal degeneration has shown that the overall picture is rather more complicated than initially thought. Over the past 20 years, various approaches have been developed and tested to search for genes and mutations underlying genetic traits in dogs, depending on the availability of genetic tools and sample resources. Candidate gene, linkage analysis, and genome-wide association studies have so far identified 24 mutations in 18 genes underlying retinal diseases in at least 58 dog breeds. Many of these genes have been associated with retinal diseases in humans, thus providing opportunities to study the role in pathogenesis and in normal vision. Application in therapeutic interventions such as gene therapy has proven successful initially in a naturally occurring dog model followed by trials in human patients. Other genes whose human homologs have not been associated with retinal diseases are potential candidates to explain equivalent human diseases and contribute to the understanding of their function in vision.

Copyright/Permission Statement

The final publication is available at www.springerlink.com

Keywords

retinal degeneration, isoprenoid, retinoid, stickler syndrome, diterpenoid, terpenoid, retinol, retinitis, congenital stationary night blindness, mutant allele frequency, unaffected dog, affected dog, lecithin, candidate gene, nad(p)

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Date Posted: 06 May 2015

This document has been peer reviewed.