Free Access
Genet. Sel. Evol.
Volume 35, Number 4, July-August 2003
Page(s) 445 - 456
Genet. Sel. Evol. 35 (2003) 445-456
DOI: 10.1051/gse:2003033

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

Gabriele Dekomien and Joerg T. Epplen

Human Genetics, Ruhr-University, 44780 Bochum, Germany
(Received 1st August 2002; accepted 26 November 2002)

The $\delta$ and $\gamma$ 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 $\rightarrow$ 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.

Key words: cGMP-phosphodiesterase / canine / generalised progressive retinal atrophy / SNP / retinitis pigmentosa / SSCP

Correspondence and reprints: Gabriele Dekomien

© INRA, EDP Sciences 2003