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Article: Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor

TitleCone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor
Authors
Issue Date1997
PublisherCell Press. The Journal's web site is located at http://www.elsevier.com/locate/cell
Citation
Cell, 1997, v. 91 n. 4, p. 543-553 How to Cite?
AbstractGenes associated with inherited retinal degeneration have been found to encode proteins required for phototransduction, metabolism, or structural support of photoreceptors. Here we show that mutations in a novel photoreceptor-specific homeodomain transcription factor gene (CRX) cause an autosomal dominant form of cone-rod dystrophy (adCRD) at the CORD2 locus on chromosome 19q13. In affected members of a CORD2-linked family, the highly conserved glutamic acid at the first position of the recognition helix is replaced by alanine (E80A). In another CRD family, a 1 bp deletion (E168 [Δ1 bp]) within a novel sequence, the WSP motif, predicts truncation of the C- terminal 132 residues of CRX. Mutations in the CRX gene cause adCRD either by haploinsufficiency or by a dominant negative effect and demonstrate that CRX is essential for the maintenance of mammalian photoreceptors.
Persistent Identifierhttp://hdl.handle.net/10722/44330
ISSN
2015 Impact Factor: 28.71
2015 SCImago Journal Rankings: 28.188
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorFreund, CLen_HK
dc.contributor.authorGregoryEvans, CYen_HK
dc.contributor.authorFurukawa, Ten_HK
dc.contributor.authorPapaioannou, Men_HK
dc.contributor.authorLooser, Jen_HK
dc.contributor.authorPloder, Len_HK
dc.contributor.authorBellingham, Jen_HK
dc.contributor.authorNg, Den_HK
dc.contributor.authorHerbrick, JASen_HK
dc.contributor.authorDuncan, Aen_HK
dc.contributor.authorScherer, SWen_HK
dc.contributor.authorTsui, LCen_HK
dc.contributor.authorLoutradisAnagnostou, Aen_HK
dc.contributor.authorJacobson, SGen_HK
dc.contributor.authorCepko, CLen_HK
dc.contributor.authorBhattacharya, SSen_HK
dc.contributor.authorMcInnes, RRen_HK
dc.date.accessioned2007-09-12T03:51:32Z-
dc.date.available2007-09-12T03:51:32Z-
dc.date.issued1997en_HK
dc.identifier.citationCell, 1997, v. 91 n. 4, p. 543-553en_HK
dc.identifier.issn0092-8674en_HK
dc.identifier.urihttp://hdl.handle.net/10722/44330-
dc.description.abstractGenes associated with inherited retinal degeneration have been found to encode proteins required for phototransduction, metabolism, or structural support of photoreceptors. Here we show that mutations in a novel photoreceptor-specific homeodomain transcription factor gene (CRX) cause an autosomal dominant form of cone-rod dystrophy (adCRD) at the CORD2 locus on chromosome 19q13. In affected members of a CORD2-linked family, the highly conserved glutamic acid at the first position of the recognition helix is replaced by alanine (E80A). In another CRD family, a 1 bp deletion (E168 [Δ1 bp]) within a novel sequence, the WSP motif, predicts truncation of the C- terminal 132 residues of CRX. Mutations in the CRX gene cause adCRD either by haploinsufficiency or by a dominant negative effect and demonstrate that CRX is essential for the maintenance of mammalian photoreceptors.en_HK
dc.languageengen_HK
dc.publisherCell Press. The Journal's web site is located at http://www.elsevier.com/locate/cellen_HK
dc.relation.ispartofCellen_HK
dc.rightsThis paper has been submitted to Cancer Cell for considerationen_HK
dc.subject.meshChromosomes, human, pair 19 - geneticsen_HK
dc.subject.meshFrameshift mutation - geneticsen_HK
dc.subject.meshGenes, homeobox - geneticsen_HK
dc.subject.meshPoint mutation - geneticsen_HK
dc.subject.meshRetinal degeneration - geneticsen_HK
dc.titleCone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptoren_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0092-8674&volume=91&issue=4&spage=543&epage=553&date=1997&atitle=Cone-rod+dystrophy+due+to+mutations+in+a+novel+photoreceptor-specific+homeobox+gene+(CRX)+essential+for+maintenance+of+the+photoreceptoren_HK
dc.identifier.emailTsui, LC: tsuilc@hkucc.hku.hken_HK
dc.identifier.authorityTsui, LC=rp00058en_HK
dc.description.naturelink_to_subscribed_fulltexten_HK
dc.identifier.doi10.1016/S0092-8674(00)80440-7en_HK
dc.identifier.pmid9390563en_HK
dc.identifier.scopuseid_2-s2.0-0030669568en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0030669568&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume91en_HK
dc.identifier.issue4en_HK
dc.identifier.spage543en_HK
dc.identifier.epage553en_HK
dc.identifier.isiWOS:A1997YG49200015-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridFreund, CL=36857114100en_HK
dc.identifier.scopusauthoridGregoryEvans, CY=6603730069en_HK
dc.identifier.scopusauthoridFurukawa, T=7403160171en_HK
dc.identifier.scopusauthoridPapaioannou, M=6603690925en_HK
dc.identifier.scopusauthoridLooser, J=6505833277en_HK
dc.identifier.scopusauthoridPloder, L=6602661567en_HK
dc.identifier.scopusauthoridBellingham, J=7006430590en_HK
dc.identifier.scopusauthoridNg, D=7201645799en_HK
dc.identifier.scopusauthoridHerbrick, JAS=6602297751en_HK
dc.identifier.scopusauthoridDuncan, A=7202585341en_HK
dc.identifier.scopusauthoridScherer, SW=35374654500en_HK
dc.identifier.scopusauthoridTsui, LC=7102754167en_HK
dc.identifier.scopusauthoridLoutradisAnagnostou, A=6508039427en_HK
dc.identifier.scopusauthoridJacobson, SG=7402234497en_HK
dc.identifier.scopusauthoridCepko, CL=10240780700en_HK
dc.identifier.scopusauthoridBhattacharya, SS=7404284762en_HK
dc.identifier.scopusauthoridMcInnes, RR=7006946516en_HK

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