TAILIEUCHUNG - Báo cáo sinh học: "Analysis of PDE6D and PDE6G genes for generalised progressive retinal atrophy (gPRA) mutations in dogs"

Tuyển tập các báo cáo nghiên cứu về sinh học được đăng trên tạp chí sinh học thế giới đề tài: Analysis of PDE6D and PDE6G genes for generalised progressive retinal atrophy (gPRA) mutations in dogs | 445 Genet Sei. Evol. 35 2003 445-456 INRA EDP Sciences 2003 DOI gse 2003033 Original article AnaÍYSÌs of PDE6D and PDE6G genes for generaiised progressive retinai atrophY gPRA mutations in dogs Gabriele Dekomien Joerg T. Epplen Human Genetics Ruhr-UniversitY 44780 Bochum Germany Received 1st August 2002 accepted 26 November 2002 Abstract - The s and g subunits of the eGMP-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. cGMP-phosphodiesterase canine generalised progressive retinal atrophy SNP retinitis pigmentosa SSCP 1. introduction Rod cGMP-phosphodiesterase PDE is the G-protein-activated effector enzyme that regulates the level of cGMP in vertebrate photoreceptor cells 3 13 . Rod cGMP PDE is generally viewed as a protein composed of catalytic a and b subunits two identical inhibitory g subunits 30 and a s subunit. Respective DNA sequences were recently identified in men mice cows and dogs 15 20 21 . The exact function of the s subunit is still not known since in vitro it does not affect the catalytic activity of PDE. Loss of g subunits entails reduced hydrolytic activity and leads to an increased PDE activity 32 . Defects in genes encoding PDE subunits have been associated with retinal disease .

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