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Analysis of PDE6D and PDE6G genes for generalised progressive retinal atrophy (gPRA) mutations in dogs

Genetics Selection Evolution volume 35, Article number: 445 (2003) Cite this article

Abstract

The δ and γ subunits of the cGMP-phosphodiesterase (PDE6D, PDE6G) genes were screened in order to identify mutations causing generalised progressive retinal atrophy (gPRA) in dogs. In the PDE6D 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 PDE6G 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 PDE6D and PDE6G genes as causing retinal degeneration in 15 of the 22 dog breeds with presumed autosomal recessively transmitted (ar) gPRA.

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  1. Human Genetics, Ruhr-University, 44780, Bochum, Germany

    Gabriele Dekomien & Joerg T. Epplen

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  1. Gabriele Dekomien
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  2. Joerg T. Epplen
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Correspondence to Gabriele Dekomien.

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Dekomien, G., Epplen, J.T. Analysis of PDE6D and PDE6G genes for generalised progressive retinal atrophy (gPRA) mutations in dogs. Genet Sel Evol 35, 445 (2003). https://doi.org/10.1186/1297-9686-35-5-445

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  • DOI: https://doi.org/10.1186/1297-9686-35-5-445

Keywords

Genetics Selection Evolution

ISSN: 1297-9686