Linkage analysis and comparative mapping of canine progressive rod–cone degeneration ( prcd ) establishes potential locus homology with retinitis pigmentosa (RP17) in humans

Genetic linkage Synteny Penetrance
DOI: 10.1073/pnas.95.6.3048 Publication Date: 2002-07-26T14:35:50Z
ABSTRACT
Progressive rod–cone degeneration ( prcd ) is the most widespread hereditary retinal disease leading to blindness in dogs and phenotypically canine counterpart of retinitis pigmentosa (RP) humans. In previous efforts identify genetic locus for prcd, homologs many genes causally associated with RP humans, such as RHO , PDE6B RDS /peripherin, have been excluded. parallel a recent undertaking establish framework map genome, multiple -informative pedigrees typed panel more than 100 anchor loci microsatellite-based markers. Identification linkage group flanking ([ TK1 GALK1 ]–[ MYL4 C09.173 C09.2263 ]– RARA–C09.250–C09.474–NF1 localizes close centromeric end chromosome 9 (CFA9), excludes RARA candidate gene. The conserved synteny this region CFA9 distal human 17q establishes potential homology dog RP17, which no gene has yet identified. Assignment an identified autosome represents powerful application developing medical genetics. usefulness approach further demonstrated by identification correspondence interval homologous mouse chromosomal regions. rapid progress that now occurring field genetics will expedite underlying inherited traits diseases make unique asset study mammalian traits.
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