Abstract
Abstract: :
Progressive rod-cone degeneration (prcd) is a canine autosomal recessive retinal degeneration where rods and subsequently cones degenerate after normal postnatal development. The prcd locus maps to CFA9 in the region of synteny to the distal part of human chromosome 17q. Purpose: To construct a BAC contig of the zero recombination interval and to 3x sequence the minimal tiling path of the region. Methods: GALK1 locus did not recombine with the prcd locus on the meiotic map and was used as a starting marker for the BAC library screen. Following the library screen each identified BAC was end-sequenced and STS markers were developed to orient the BACs via STS-mapping. Once oriented, the most outer STS-s were used for the subsequent library screening. From the physical map of the region, a minimal tiling path of BACs with minimal overlap was created. The BACs from the minimal tiling path were processed for 3x sequencing. Results: A physical map of the prcd region currently encompasses ∼2 Mb. The 3x sequence of the minimal tiling path has been generated, assembled into contigs and analyzed against BLAST databases (non-redundant; est and htgs). Canine orthologs of previously identified human genes were identified. Conclusion: The prcd region on CFA9 shows not only a high homology to HSA17q region, but also high conservation in gene order along the chromosome. Currently candidate genes are being evaluated for the mutation responsible for prcd. Supported by: EY-06855; EY-13132; Foundation Fighting Blindness; The van Sloan Fund for Canine Genetic Research; Morris Animal Foundation / The Seeing Eye.
Keywords: 418 gene mapping • 562 retinal degenerations: hereditary