Document Type

Journal Article

Date of this Version

8-2010

Publication Source

Mammalian Genome

Volume

21

Issue

7-8

Start Page

398

Last Page

408

DOI

10.1007/s00335-010-9276-4

Abstract

Oculoskeletal dysplasia segregates as an autosomal recessive trait in the Labrador retriever and Samoyed canine breeds, in which the causative loci have been termed drd1 and drd2, respectively. Affected dogs exhibit short-limbed dwarfism and severe ocular defects. The disease phenotype resembles human hereditary arthro-ophthalmopathies such as Stickler and Marshall syndromes, although these disorders are usually dominant. Linkage studies mapped drd1 to canine chromosome 24 and drd2 to canine chromosome 15. Positional candidate gene analysis then led to the identification of a 1-base insertional mutation in exon 1 of COL9A3 that cosegregates with drd1 and a 1,267-bp deletion mutation in the 5′ end of COL9A2 that cosegregates with drd2. Both mutations affect the COL3 domain of the respective gene. Northern analysis showed that RNA expression of the respective genes was reduced in affected retinas. These models offer potential for studies such as protein-protein interactions between different members of the collagen gene family, regulation and expression of these genes in retina and cartilage, and even opportunities for gene therapy.

Copyright/Permission Statement

The final publication is available at www.springerlink.com

Keywords

stickler syndrome, affected dog, retinal degeneration, collagen, kniest dysplasia, retinal cdna, mutant allele frequency, strabisus, rna, polynucleotide, information biomacromolecule, unaffected dog, nucleic acid, cataract, etinal detachment

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Date Posted: 06 May 2015

This document has been peer reviewed.