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Indirect exclusion of four candidate genes for generalized progressive retinal atrophy in several breeds of dogs

BACKGROUND: Generalized progressive retinal atrophy (gPRA) is a hereditary ocular disorder with progressive photoreceptor degeneration in dogs. Four retina-specific genes, ATP binding cassette transporter retina (ABCA4), connexin 36 (CX36), c-mer tyrosin kinase receptor (MERTK) and photoreceptor cel...

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Autores principales: Lippmann, Tanja, Pasternack, Sandra M, Kraczyk, Britta, Dudek, Sabine E, Dekomien, Gabriele
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2006
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1716180/
https://www.ncbi.nlm.nih.gov/pubmed/17134500
http://dx.doi.org/10.1186/1477-5751-5-19
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author Lippmann, Tanja
Pasternack, Sandra M
Kraczyk, Britta
Dudek, Sabine E
Dekomien, Gabriele
author_facet Lippmann, Tanja
Pasternack, Sandra M
Kraczyk, Britta
Dudek, Sabine E
Dekomien, Gabriele
author_sort Lippmann, Tanja
collection PubMed
description BACKGROUND: Generalized progressive retinal atrophy (gPRA) is a hereditary ocular disorder with progressive photoreceptor degeneration in dogs. Four retina-specific genes, ATP binding cassette transporter retina (ABCA4), connexin 36 (CX36), c-mer tyrosin kinase receptor (MERTK) and photoreceptor cell retinol dehydrogenase (RDH12) were investigated in order to identify mutations leading to autosomal recessive (ar) gPRA in 29 breeds of dogs. RESULTS: Mutation screening was performed initially by PCR and single strand conformation polymorphism (SSCP) analysis, representing a simple method with comparatively high reliability for identification of sequence variations in many samples. Conspicuous banding patterns were analyzed via sequence analyses in order to detect the underlying nucleotide variations. No pathogenetically relevant mutations were detected in the genes ABCA4, CX36, MERTK and RDH12 in 71 affected dogs of 29 breeds. Yet 30 new sequence variations were identified, both, in the coding regions and intronic sequences. Many of the sequence variations were in heterozygous state in affected dogs. CONCLUSION: Based on the ar transmittance of gPRA in the breeds investigated, informative sequence variations provide evidence allowing indirect exclusion of pathogenetic mutations in the genes ABCA4 (for 9 breeds), CX36 (for 12 breeds), MERTK (for all 29 breeds) and RDH12 (for 9 breeds).
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spelling pubmed-17161802006-12-22 Indirect exclusion of four candidate genes for generalized progressive retinal atrophy in several breeds of dogs Lippmann, Tanja Pasternack, Sandra M Kraczyk, Britta Dudek, Sabine E Dekomien, Gabriele J Negat Results Biomed Research BACKGROUND: Generalized progressive retinal atrophy (gPRA) is a hereditary ocular disorder with progressive photoreceptor degeneration in dogs. Four retina-specific genes, ATP binding cassette transporter retina (ABCA4), connexin 36 (CX36), c-mer tyrosin kinase receptor (MERTK) and photoreceptor cell retinol dehydrogenase (RDH12) were investigated in order to identify mutations leading to autosomal recessive (ar) gPRA in 29 breeds of dogs. RESULTS: Mutation screening was performed initially by PCR and single strand conformation polymorphism (SSCP) analysis, representing a simple method with comparatively high reliability for identification of sequence variations in many samples. Conspicuous banding patterns were analyzed via sequence analyses in order to detect the underlying nucleotide variations. No pathogenetically relevant mutations were detected in the genes ABCA4, CX36, MERTK and RDH12 in 71 affected dogs of 29 breeds. Yet 30 new sequence variations were identified, both, in the coding regions and intronic sequences. Many of the sequence variations were in heterozygous state in affected dogs. CONCLUSION: Based on the ar transmittance of gPRA in the breeds investigated, informative sequence variations provide evidence allowing indirect exclusion of pathogenetic mutations in the genes ABCA4 (for 9 breeds), CX36 (for 12 breeds), MERTK (for all 29 breeds) and RDH12 (for 9 breeds). BioMed Central 2006-11-29 /pmc/articles/PMC1716180/ /pubmed/17134500 http://dx.doi.org/10.1186/1477-5751-5-19 Text en Copyright © 2006 Lippmann et al; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( (http://creativecommons.org/licenses/by/2.0) ), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research
Lippmann, Tanja
Pasternack, Sandra M
Kraczyk, Britta
Dudek, Sabine E
Dekomien, Gabriele
Indirect exclusion of four candidate genes for generalized progressive retinal atrophy in several breeds of dogs
title Indirect exclusion of four candidate genes for generalized progressive retinal atrophy in several breeds of dogs
title_full Indirect exclusion of four candidate genes for generalized progressive retinal atrophy in several breeds of dogs
title_fullStr Indirect exclusion of four candidate genes for generalized progressive retinal atrophy in several breeds of dogs
title_full_unstemmed Indirect exclusion of four candidate genes for generalized progressive retinal atrophy in several breeds of dogs
title_short Indirect exclusion of four candidate genes for generalized progressive retinal atrophy in several breeds of dogs
title_sort indirect exclusion of four candidate genes for generalized progressive retinal atrophy in several breeds of dogs
topic Research
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1716180/
https://www.ncbi.nlm.nih.gov/pubmed/17134500
http://dx.doi.org/10.1186/1477-5751-5-19
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