Analysis of <it>PDE6D </it>and <it>PDE6G </it>genes for generalised progressive retinal atrophy (gPRA) mutations in dogs
2003
Dekomien Gabriele | Epplen Joerg T
<p>Abstract</p> <p>The <it>δ </it>and <it>γ </it>subunits of the <it>cGMP-phosphodiesterase </it>(<it>PDE6D</it>, <it>PDE6G</it>) genes were screened in order to identify mutations causing generalised progressive retinal atrophy (gPRA) in dogs. In the <it>PDE6D </it>gene, single nucleotide polymorphisms (SNP) were observed in exon 4, in introns 2 and 3 and in the 3' untranslated region (UTR) of different dog breeds. In the coding region of the <it>PDE6G </it>gene, exclusively healthy Labrador Retrievers showed an A → G transition in exon 4 without amino acid exchange. SNP were also observed in introns 1 and 2 in different dog breeds. The different SNP were used as intragenic markers to investigate the involvement of both genes in gPRA. The informative substitutions allowed us to exclude mutations in the <it>PDE6D </it>and <it>PDE6G </it>genes as causing retinal degeneration in 15 of the 22 dog breeds with presumed autosomal recessively transmitted (ar) gPRA.</p>
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