Document Type

Journal Article

Date of this Version

3-22-2002

Publication Source

Molecular Vision

Volume

8

Start Page

79

Last Page

84

Abstract

PURPOSE:

The cone-rod homeobox protein (CRX) is a member of the homeodomain-containing protein family expressed in the retinal photoreceptors and pinealocytes; it is involved in the regulation of the coordinate expression of multiple photoreceptor specific genes during retinal development. Mutations in the CRX gene are causally associated with retinal degeneration phenotypes in man. To clone the full length cDNA, characterize the genomic organization of canine CRX, map the gene in a radiation hybrid (RH) panel, and evaluate it as a candidate for canine inherited retinal degenerations.

METHODS:

cDNA representational difference analysis (RDA) was done using normal and cone degeneration (cd) affected retinas. Exonic primers designed from consensus sequences of mammalian CRX cDNA were used to amplify and sequence dog genomic DNA. Canine specific primers were used for RH mapping of CRX on the RH3000 cell line. Linkage, sequencing and/or mapping the disease locus was used to evaluate CRX as a disease associated candidate gene.

RESULTS:

The gene comprises three exons and two introns and codes for a transcript with a 900 bp open reading frame (ORF). In agreement with human map data, RH mapping placed canine CRX on the proximal end of CFA1, in a region of synteny with HSA19q13-q13.3. Based on RH mapping, meiotic linkage or sequencing data, we excluded CRX as the cause of canine early onset photoreceptor degenerations affecting Alaskan malamutes (cd), collies (rod-cone dysplasia 2, rcd2), American Staffordshire terriers, and Tibetan terriers.

CONCLUSIONS:

Canine CRX has a high level of nucleotide and amino acid sequence identity with orthologous sequences reported for other species. The gene is excluded from causal association with 4 early onset photoreceptor diseases affecting cones (cd) or rods and cones (rcd2, PRA in American Staffordshire terriers, and Tibetan terriers).

Copyright/Permission Statement

This paper was published by Molecular Vision under a CC BY-NC-ND 3.0 license.

Comments

PMID: 11951083

http://www.molvis.org/molvis/v8/a11/

At the time of publication, author Gustavo Aguirre was affiliated with the James A. Baker Institute for Animal Health, College of Veterinary Medicine, Cornell University. Currently, he is a faculty member at the Vet Med school at the University of Pennsylvania.

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Date Posted: 12 November 2013

This document has been peer reviewed.