Assessment of canine BEST1 variations identifies new mutations and establishes an independent bestrophinopathy model (cmr3).

ABSTRACT:

Purpose

Mutations in bestrophin 1 (BEST1) are associated with a group of retinal disorders known as bestrophinopathies in man and canine multifocal retinopathies (cmr) in the dog. To date, the dog is the only large animal model suitable for the complex characterization and in-depth studies of Best-related disorders. In the first report of cmr, the disease was described in a group of mastiff-related breeds (cmr1) and the Coton de Tulear (cmr2). Additional breeds, e.g., the Lapponian herder (LH) and others, subsequently were recognized with similar phenotypes, but linked loci are unknown. Analysis of the BEST1 gene aimed to identify mutations in these additional populations and extend our understanding of genotype-phenotype associations.

Methods

Animals were subjected to routi

SUBMITTER: Zangerl B 

PROVIDER: S-EPMC3008713 | biostudies-literature | 2010 Dec

REPOSITORIES: biostudies-literature