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Publication : A novel retinal degeneration locus identified by linkage and comparative mapping of canine early retinal degeneration.

First Author  Acland GM Year  1999
Journal  Genomics Volume  59
Issue  2 Pages  134-42
PubMed ID  10409424 Mgi Jnum  J:57146
Mgi Id  MGI:1343901 Doi  10.1006/geno.1999.5842
Citation  Acland GM, et al. (1999) A novel retinal degeneration locus identified by linkage and comparative mapping of canine early retinal degeneration. Genomics 59(2):134-42
abstractText  Early retinal degeneration (erd) is an early onset progressive retinal atrophy, a hereditary canine retinal disease phenotypically similar to human retinitis pigmentosa (RP), In previous efforts to identify the erd locus, canine homologs of genes causally associated with RP in humans, such as opsin (RHO), the beta-subunit gene for cyclic GMP phosphodiesterase (PDEGB), and RDS/ peripherin, were excluded. A genome-wide screen was undertaken on canine families segregating the erd disease. Analysis of over 150 canine-specific markers has localized erd to a single linkage group comprising two previously identified canine linkage groups, 20 and 26, corresponding to canine radiation hybrid groups RH.34-a and RH.40-a, Multipoint analysis places erd in the interval between marker FH2289 (distance 23.6 cM) and FH2407 (5.9 cM) with a lod score of 12.23. Although the erd linkage group has not been assigned to an identified canine chromosome, conserved synteny of this linkage group with human 12p13- q13 suggests several candidates for erd and identifies a novel retinal degeneration locus. The rapid progress now occurring in canine genetics will expedite identification of the genes and molecular mechanisms underlying the inherited traits and diseases that make the dog a unique asset for study of mammalian traits. (C) 1999 Academic Press.
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