Cloning and characterization of canine SHARP1 and its evaluation as a positional candidate for canine early retinal degeneration (erd)

Anna V. Kukekova, Gustavo D. Aguirre, Gregory M. Acland

Research output: Contribution to journalArticle

Abstract

Canine early retinal degeneration (erd) is an early onset form of canine progressive retinal atrophy phenotypically similar to human retinitis pigmentosa. In a previous study, the locus responsible for erd was mapped to canine chromosome 27 in the region corresponding to HSA12p, a region where no human retinal degeneration loci have been mapped. Canine SHARP1 gene has been localized on CFA27 in the erd interval by RH mapping, and considered as a positional candidate gene for erd. SHARP1 was cloned and sequenced from normal and erd affected dogs, and no disease-causing mutations were identified. Genotyping of 117 dogs from informative pedigrees did not reveal any recombinants between SHARP1 and erd. To date SHARP1 gene is the closest gene-specific marker to erd; genotyping additional informative pedigrees, and sequencing SHARP1 upstream regions from normal and affected dogs will be necessary to establish if SHARP1 is involved in this canine retinal disease.

Original languageEnglish (US)
Pages (from-to)335-343
Number of pages9
JournalGene
Volume312
Issue number1-2
DOIs
StatePublished - Jul 17 2003
Externally publishedYes

Keywords

  • Basic helix loop helix transcription factors
  • Dog
  • Progressive retinal atrophy

ASJC Scopus subject areas

  • Genetics

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