Identification of genetic variation and haplotype structure of the canine ABCA4 gene for retinal disease association studies.

ABSTRACT: Over 200 mutations in the retina specific member of the ATP-binding cassette transporter superfamily (ABCA4) have been associated with a diverse group of human retinal diseases. The disease mechanisms, and genotype-phenotype associations, nonetheless, remain elusive in many cases. As orthologous genes are commonly mutated in canine models of human blinding disorders, canine ABCA4 appears to be an ideal candidate gene to identify and study sequence changes in dogs affected by various forms of inherited retinal degeneration. However, the size of the gene and lack of haplotype assignment significantly limit targeted association and/or linkage approaches. This study assessed the naturally observed sequence diversity of ABCA4 in the dog, identifying 80% of novel variations. While none of the ob

SUBMITTER: Zangerl B 

PROVIDER: S-EPMC2954605 | biostudies-literature | 2010 Oct

REPOSITORIES: biostudies-literature