A novel TEAD1 mutation is the causative allele in Sveinsson's chorioretinal atrophy (helicoid peripapillary chorioretinal degeneration)

2.50
Hdl Handle:
http://hdl.handle.net/2336/3419
Title:
A novel TEAD1 mutation is the causative allele in Sveinsson's chorioretinal atrophy (helicoid peripapillary chorioretinal degeneration)
Authors:
Fossdal, Ragnheidur; Jonasson, Fridbert; Kristjansdottir, Gudlaug T; Kong, Augustine; Stefansson, Hreinn; Gosh, Shyamali; Gulcher, Jeffrey R; Stefansson, Kari
Citation:
Hum. Mol. Genet. 2004, 13(9):975-81
Issue Date:
2004
Abstract:
Sveinsson's chorioretinal atrophy (SCRA), also referred to as helicoid peripapillary chorioretinal degeneration or atrophia areata, is an autosomal dominant eye disease, characterized by symmetrical lesions radiating from the optic disc involving the retina and the choroid. Genome-wide linkage analysis mapped the SCRA gene to chromosome 11p15 in 81 patients from a large founder pedigree in Iceland. The parametric LOD score obtained was 18.9 using an autosomal dominant model with high penetrance. Crossover analysis of the linkage region with 51 markers identified a 593 kb segment shared by all patients. Sequencing exons of the only gene in this interval, the transcriptional enhancer TEAD1, revealed a novel missense mutation (Y421H) carried by all patients and none of the 502 controls. The mutation is in a conserved amino acid sequence in the C terminal of the protein, a potential binding site for YAP65 one of TEAD1's cofactors that is expressed in human retina as well as TEAD1 based on RT-PCR experiments. Therefore, we conclude that the mutation in the TEAD1 gene is the cause of Sveinsson's chorioretinal atrophy.
Description:
To access publisher full text version of this article. Please click on the hyperlink in Additional Links field
Additional Links:
http://hmg.oxfordjournals.org/cgi/content/full/13/9/975

Full metadata record

DC FieldValue Language
dc.contributor.authorFossdal, Ragnheidur-
dc.contributor.authorJonasson, Fridbert-
dc.contributor.authorKristjansdottir, Gudlaug T-
dc.contributor.authorKong, Augustine-
dc.contributor.authorStefansson, Hreinn-
dc.contributor.authorGosh, Shyamali-
dc.contributor.authorGulcher, Jeffrey R-
dc.contributor.authorStefansson, Kari-
dc.date.accessioned2006-07-12T10:57:12Z-
dc.date.available2006-07-12T10:57:12Z-
dc.date.issued2004-
dc.identifier.citationHum. Mol. Genet. 2004, 13(9):975-81en
dc.identifier.issn0964-6906-
dc.identifier.pmid15016762-
dc.identifier.doi10.1093/hmg/ddh106-
dc.identifier.otherOPH12en
dc.identifier.otherGEN12en
dc.identifier.urihttp://hdl.handle.net/2336/3419-
dc.descriptionTo access publisher full text version of this article. Please click on the hyperlink in Additional Links fielden
dc.description.abstractSveinsson's chorioretinal atrophy (SCRA), also referred to as helicoid peripapillary chorioretinal degeneration or atrophia areata, is an autosomal dominant eye disease, characterized by symmetrical lesions radiating from the optic disc involving the retina and the choroid. Genome-wide linkage analysis mapped the SCRA gene to chromosome 11p15 in 81 patients from a large founder pedigree in Iceland. The parametric LOD score obtained was 18.9 using an autosomal dominant model with high penetrance. Crossover analysis of the linkage region with 51 markers identified a 593 kb segment shared by all patients. Sequencing exons of the only gene in this interval, the transcriptional enhancer TEAD1, revealed a novel missense mutation (Y421H) carried by all patients and none of the 502 controls. The mutation is in a conserved amino acid sequence in the C terminal of the protein, a potential binding site for YAP65 one of TEAD1's cofactors that is expressed in human retina as well as TEAD1 based on RT-PCR experiments. Therefore, we conclude that the mutation in the TEAD1 gene is the cause of Sveinsson's chorioretinal atrophy.en
dc.language.isoenen
dc.publisherOxford University Pressen
dc.relation.urlhttp://hmg.oxfordjournals.org/cgi/content/full/13/9/975en
dc.subjectAdaptor Proteins, Signal Transducingen
dc.subjectAllelesen
dc.subjectAmino Acid Sequenceen
dc.subjectBinding Sitesen
dc.subjectChoroid Diseasesen
dc.subjectChromosome Mappingen
dc.subjectConserved Sequenceen
dc.subjectDNA-Binding Proteinsen
dc.subjectFemaleen
dc.subjectIcelanden
dc.subjectLinkage (Genetics)en
dc.subjectMaleen
dc.subjectMolecular Sequence Dataen
dc.subjectMutation, Missenseen
dc.subjectNuclear Proteinsen
dc.subjectPedigreeen
dc.subjectPhosphoproteinsen
dc.subjectRetinal Degenerationen
dc.subjectTranscription Factorsen
dc.titleA novel TEAD1 mutation is the causative allele in Sveinsson's chorioretinal atrophy (helicoid peripapillary chorioretinal degeneration)en
dc.typeArticleen
dc.format.digYES-

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