Document Detail

Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor.
MedLine Citation:
PMID:  9390563     Owner:  NLM     Status:  MEDLINE    
Genes 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 [delta1 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.
C L Freund; C Y Gregory-Evans; T Furukawa; M Papaioannou; J Looser; L Ploder; J Bellingham; D Ng; J A Herbrick; A Duncan; S W Scherer; L C Tsui; A Loutradis-Anagnostou; S G Jacobson; C L Cepko; S S Bhattacharya; R R McInnes
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Cell     Volume:  91     ISSN:  0092-8674     ISO Abbreviation:  Cell     Publication Date:  1997 Nov 
Date Detail:
Created Date:  1997-12-23     Completed Date:  1997-12-23     Revised Date:  2009-09-29    
Medline Journal Info:
Nlm Unique ID:  0413066     Medline TA:  Cell     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  543-53     Citation Subset:  IM    
Department of Genetics, The Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada.
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MeSH Terms
Amino Acid Sequence
Base Sequence
Chromosome Mapping
Chromosomes, Human, Pair 19 / genetics
Conserved Sequence / genetics
Frameshift Mutation / genetics*
Genes, Dominant / genetics
Genes, Homeobox / genetics*
Homeodomain Proteins / genetics*
Molecular Sequence Data
Organ Specificity
Photoreceptor Cells / physiology
Point Mutation / genetics*
RNA, Messenger / analysis
Retina / chemistry
Retinal Degeneration / genetics*
Sequence Homology, Amino Acid
Trans-Activators / genetics*
Transcription Factors / genetics
Grant Support
EY05627/EY/NEI NIH HHS; R01 EY0 8064/EY/NEI NIH HHS; //Wellcome Trust
Reg. No./Substance:
0/Homeodomain Proteins; 0/RNA, Messenger; 0/Trans-Activators; 0/Transcription Factors; 0/cone rod homeobox protein

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