Exonic SINE Insertion in STK38L Causes Canine Early Retinal Degeneration (erd)

Simple item page
dc.contributor.authorGoldstein, Orly
dc.contributor.authorAguirre, Gustavo D
dc.contributor.authorAguirre, Gustavo D
dc.contributor.authorKukekova, Anna V
dc.contributor.authorAcland, Gregory M
dc.date2023-05-17T11:20:04.000
dc.date.accessioned2023-05-23T04:46:02Z
dc.date.available2023-05-23T04:46:02Z
dc.date.issued2010-12-01
dc.date.submitted2015-04-09T11:32:04-07:00
dc.description.abstractFine mapping followed by candidate gene analysis of erd — a canine hereditary retinal degeneration characterized by aberrant photoreceptor development — established that the disease cosegregates with a SINE insertion in exon 4 of the canine STK38L/NDR2 gene. The mutation removes exon 4 from STK38L transcripts and is predicted to remove much of the N terminus from the translated protein, including binding sites for S100B and Mob proteins, part of the protein kinase domain, and a Thr-75 residue critical for autophosphorylation. Although known to have roles in neuronal cell function, the STK38L pathway has not previously been implicated in normal or abnormal photoreceptor development. Loss of STK38L function in erd provides novel potential insights into the role of the STK38L pathway in neuronal and photoreceptor cell function, and suggests that genes in this pathway need to be considered as candidate genes for hereditary retinal degenerations.
dc.identifier.urihttps://repository.upenn.edu/handle/20.500.14332/49021
dc.legacy.articleid1111
dc.legacy.fields10.1016/j.ygeno.2010.09.003
dc.legacy.fulltexturlhttps://repository.upenn.edu/cgi/viewcontent.cgi?article=1111&context=vet_papers&unstamped=1
dc.rights<p>NOTICE: This is the author’s version of a work that was accepted for publication in Genomics. Changes resulting from the publishing process, such as peer review, editing, corrections, structural formatting, and other quality control mechanisms, may not be reflected in this document. Changes may have been made to this work since it was submitted for publication. A definitive version was subsequently published in Genomics, 96, 6, <a href="http://dx.doi.org/10.1016/j.ygeno.2010.09.003" id="x-x-ddDoi">10.1016/j.ygeno.2010.09.003</a>.</p>
dc.source.beginpage362
dc.source.endpage368
dc.source.issue99
dc.source.issue6
dc.source.journalDepartmental Papers (Vet)
dc.source.journaltitleGenomics
dc.source.peerreviewedtrue
dc.source.statuspublished
dc.source.volume96
dc.subject.otherretinal degeneration
dc.subject.otherleber congenital amaurosis
dc.subject.otherSTK38L
dc.subject.otheranimal model
dc.subject.otherEye Diseases
dc.subject.otherMedical Genetics
dc.subject.otherOphthalmology
dc.subject.otherOptometry
dc.titleExonic SINE Insertion in STK38L Causes Canine Early Retinal Degeneration (erd)
dc.typeArticle
digcom.contributor.authorGoldstein, Orly
digcom.contributor.authorKukekova, Anna V
digcom.contributor.authorisAuthorOfPublication|email:gda@vet.upenn.edu|institution:University of Pennsylvania|Aguirre, Gustavo D
digcom.contributor.authorAcland, Gregory M
digcom.identifiervet_papers/99
digcom.identifier.contextkey6965810
digcom.identifier.submissionpathvet_papers/99
digcom.typearticle
dspace.entity.typePublication
person.identifier.orcid0000-0002-5228-256X
person.identifier.orcid0000-0002-5228-256X
relation.isAuthorOfPublication1a18ef39-6294-4816-a00d-fe4b64c3295a
relation.isAuthorOfPublication1a18ef39-6294-4816-a00d-fe4b64c3295a
relation.isAuthorOfPublication.latestForDiscovery1a18ef39-6294-4816-a00d-fe4b64c3295a
upenn.schoolDepartmentCenterDepartmental Papers (Vet)
Files
Original bundle
Now showing 1 - 1 of 1
Thumbnail Image
Name:
nihms240569_1.pdf
Size:
1.8 MB
Format:
Adobe Portable Document Format
Download
Collection
Articles