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

Gene. 2003 Jul 17:312:335-43. doi: 10.1016/s0378-1119(03)00630-9.

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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • Cloning, Molecular
  • DNA / chemistry
  • DNA / genetics
  • DNA, Complementary / chemistry
  • DNA, Complementary / genetics
  • Dog Diseases / genetics*
  • Dogs
  • Female
  • Genetic Predisposition to Disease / genetics*
  • Male
  • Molecular Sequence Data
  • Mutation
  • Radiation Hybrid Mapping
  • Retinal Degeneration / genetics*
  • Retinal Degeneration / veterinary
  • Sequence Alignment
  • Sequence Analysis, DNA
  • Sequence Homology, Amino Acid
  • Time Factors
  • Transcription Factors / genetics*

Substances

  • DNA, Complementary
  • Transcription Factors
  • DNA

Associated data

  • GENBANK/AY204567
  • GENBANK/AY204568