Screening of the <it>arrestin</it> gene in dogs afflicted with generalized progressive retinal atrophy
<p>Abstract</p> <p>Background</p> <p>Intronic DNA sequences of the canine <it>arrestin</it> (<it>SAG</it>) gene was screened to identify potential disease causing mutations in dogs with generalized progressive retinal atrophy (gPRA). The intronic...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2002-07-01
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| Series: | BMC Genetics |
| Online Access: | http://www.biomedcentral.com/1471-2156/3/12 |
| Summary: | <p>Abstract</p> <p>Background</p> <p>Intronic DNA sequences of the canine <it>arrestin</it> (<it>SAG</it>) gene was screened to identify potential disease causing mutations in dogs with generalized progressive retinal atrophy (gPRA). The intronic sequences flanking each of the 16 exons were obtained from clones of a canine genomic library.</p> <p>Results</p> <p>Using polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) and DNA sequence analyses we screened affected and unaffected dogs of 23 breeds with presumed autosomal recessively (ar) transmitted gPRA. In the coding region of the <it>SAG</it> gene 12 nucleotide exchanges were identified, 5 of which lead to amino acid substitutions (H14C; A111V; A113T; D259T; A379E). 7 other exonic substitutions represent silent polymorphisms (C132C; Q199Q; H225H; V247V; P264P; T288T and L293L). 16 additional sequence variations were observed in intronic regions of different dog breeds.</p> <p>Conclusions</p> <p>In several breeds, these polymorphisms were found in homozygous state in unaffected and in heterozygous state in affected animals. Consequently these informative substitutions provide evidence to exclude mutations in the <it>SAG</it> gene as causing retinal degeneration in 14 of the 23 dog breeds with presumed ar transmitted gPRA.</p> |
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| ISSN: | 1471-2156 |