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

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 h...

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Bibliographic Details
Published in:Gene 2003-07, Vol.312, p.335-343
Main Authors: Kukekova, Anna V, Aguirre, Gustavo D, Acland, Gregory M
Format: Article
Language:English
Subjects:
Amino Acid Sequence
Animals
Base Sequence
Basic helix loop helix transcription factors
Cloning, Molecular
DNA - chemistry
DNA - genetics
DNA, Complementary - chemistry
DNA, Complementary - genetics
Dog
Dog Diseases - genetics
Dogs
Female
Genetic Predisposition to Disease - genetics
Male
Molecular Sequence Data
Mutation
Progressive retinal atrophy
Radiation Hybrid Mapping
Retinal Degeneration - genetics
Retinal Degeneration - veterinary
Sequence Alignment
Sequence Analysis, DNA
Sequence Homology, Amino Acid
Time Factors
Transcription Factors - genetics
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Summary: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.
ISSN:0378-1119
1879-0038
DOI:10.1016/S0378-1119(03)00630-9