Identification of Genetic Variation and Haplotype Structure of the Canine ABCA4 Gene for Retinal Disease Association Studies

Simple item page
dc.contributor.authorZangerl, Barbara
dc.contributor.authorAguirre, Gustavo D
dc.contributor.authorZangerl, Barbara
dc.contributor.authorAguirre, Gustavo D
dc.contributor.authorLindauer, Sarah J
dc.contributor.authorAcland, Gregory M
dc.date2023-05-17T11:20:48.000
dc.date.accessioned2023-05-23T04:45:52Z
dc.date.available2023-05-23T04:45:52Z
dc.date.issued2010-10-01
dc.date.submitted2015-04-14T11:52:41-07:00
dc.description.abstractOver 200 mutations in the retina specific member of the ATP-binding cassette transporter superfamily (ABCA4) have been associated with a diverse group of human retinal diseases. The disease mechanisms, and genotype–phenotype associations, nonetheless, remain elusive in many cases. As orthologous genes are commonly mutated in canine models of human blinding disorders, canine ABCA4 appears to be an ideal candidate gene to identify and study sequence changes in dogs affected by various forms of inherited retinal degeneration. However, the size of the gene and lack of haplotype assignment significantly limit targeted association and/or linkage approaches. This study assessed the naturally observed sequence diversity of ABCA4 in the dog, identifying 80% of novel variations. While none of the observed polymorphisms have been associated with blinding disorders to date, breed and potentially disease specific haplotypes have been identified. Moreover, a tag SNP map of 17 (15) markers has been established that accurately predicts common ABCA4 haplotypes (frequency > 5%) explaining >85% (>80%) of the observed genetic diversity and will considerably advance future studies. Our sequence analysis of the complete canine ABCA4 coding region will clearly provide a baseline and tools for future association studies and comparative genomics to further delineate the role of ABCA4 in canine blinding disorders.
dc.identifier.urihttps://repository.upenn.edu/handle/20.500.14332/49008
dc.legacy.articleid1123
dc.legacy.fields10.1007/s00438-010-0560-5
dc.legacy.fulltexturlhttps://repository.upenn.edu/cgi/viewcontent.cgi?article=1123&context=vet_papers&unstamped=1
dc.rights<p>The final publication is available at www.springerlink.com</p>
dc.source.beginpage243
dc.source.endpage250
dc.source.issue87
dc.source.issue4
dc.source.journalDepartmental Papers (Vet)
dc.source.journaltitleMolecular Genetics and Genomics
dc.source.peerreviewedtrue
dc.source.statuspublished
dc.source.volume284
dc.subject.otherABCA4
dc.subject.otherhaplotype structure
dc.subject.othergenetic variation
dc.subject.otherprogressive retinal atrophy
dc.subject.othercanine
dc.subject.otherAnimal Diseases
dc.subject.otherDisease Modeling
dc.subject.otherEye Diseases
dc.subject.otherMedical Genetics
dc.subject.otherOphthalmology
dc.subject.otherVeterinary Medicine
dc.titleIdentification of Genetic Variation and Haplotype Structure of the Canine ABCA4 Gene for Retinal Disease Association Studies
dc.typeArticle
digcom.contributor.authorisAuthorOfPublication|email:bzangerl@vet.upenn.edu|institution:University of Pennsylvania|Zangerl, Barbara
digcom.contributor.authorLindauer, Sarah J
digcom.contributor.authorAcland, Gregory M
digcom.contributor.authorisAuthorOfPublication|email:gda@vet.upenn.edu|institution:University of Pennsylvania|Aguirre, Gustavo D
digcom.identifiervet_papers/87
digcom.identifier.contextkey6983576
digcom.identifier.submissionpathvet_papers/87
digcom.typearticle
dspace.entity.typePublication
person.identifier.orcid0000-0002-5228-256X
person.identifier.orcid0000-0002-5228-256X
relation.isAuthorOfPublication0e009212-6e81-435a-af49-be3ecd21f930
relation.isAuthorOfPublication1a18ef39-6294-4816-a00d-fe4b64c3295a
relation.isAuthorOfPublication.latestForDiscovery0e009212-6e81-435a-af49-be3ecd21f930
upenn.schoolDepartmentCenterDepartmental Papers (Vet)
Files
Original bundle
Now showing 1 - 1 of 1
Thumbnail Image
Name:
nihms_240990.pdf
Size:
54.18 KB
Format:
Adobe Portable Document Format
Download
Collection
Articles