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

Genetics Selection Evolution

Joerg T Epplen¹  Gabriele Dekomien¹ 

[1] Human Genetics, Ruhr-University, 44780 Bochum, Germany

关键词: SSCP;    retinitis pigmentosa;    SNP;    generalised progressive retinal atrophy;    canine;    cGMP-phosphodiesterase;   

Others  :  1094418
DOI  :  10.1186/1297-9686-35-5-445

 received in 2002-08-01, accepted in 2002-11-26,  发布年份 2003

【 摘 要 】

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.

【 授权许可】

   
2003 INRA, EDP Sciences