Zebrafish cone-rod (crx) homeobox gene promotes retinogenesis
نویسندگان
چکیده
منابع مشابه
Functional domains of the cone-rod homeobox (CRX) transcription factor.
The paired-like homeodomain transcription factor CRX (cone-rod homeobox) is involved in regulating photoreceptor gene expression and rod outer segment development. Mutations in CRX have been associated with several retinal degenerative diseases. These conditions range from Leber congenital amaurosis (a severe cone and rod degeneration of childhood onset) to adult onset cone-rod dystrophy and re...
متن کاملRetinal degenerations with truncation mutations in the cone-rod homeobox (CRX) gene.
PURPOSE To define the phenotypes of retinal degenerations associated with mutations in the gene encoding CRX (cone-rod homeobox), a photoreceptor-specific transcription factor. METHODS Heterozygotes with the E168 [delta1 bp], E168 [delta2 bp], or G217 [delta1 bp] CRXgene mutation were studied clinically, with visual function tests, including rod and cone perimetry and electroretinography (ERG...
متن کاملFunctional analysis of cone-rod homeobox (CRX) mutations associated with retinal dystrophy.
Mutations in the photoreceptor transcription factor cone-rod homeobox (CRX) have been identified in patients with several forms of retinal degenerative disease. To investigate the mechanisms by which these mutations cause photoreceptor degeneration, CRX constructs representing eleven known mutations, as well as a set of C-terminal deletions, were generated and tested for their ability to activa...
متن کاملIsolation and characterization of a zebrafish homologue of the cone rod homeobox gene.
PURPOSE To isolate and characterize a zebrafish CRX: homologue. Mammalian CRX: genes are expressed specifically in photoreceptors and pinealocytes, regulate photoreceptor gene expression, are necessary for normal photoreceptor differentiation, and when mutated cause a variety of photoreceptor degenerations. METHODS A zebrafish retinal cDNA library was screened with a human CRX cDNA probe. Rad...
متن کاملMutations in the Cone-Rod Homeobox Gene Are Associated with the Cone-Rod Dystrophy Photoreceptor Degeneration
Crx is a novel paired-like homeodomain protein that is expressed predominantly in retinal photoreceptors and pinealocytes. Its gene has been mapped to chromosome 19q13.3, the site of a disease locus for autosomal dominant cone-rod dystrophy (CORDII). Analysis of the proband from a family with autosomal dominant CORD revealed an Arg41Trp substitution in the third residue of the CRX homeodomain. ...
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ژورنال
عنوان ژورنال: Developmental Biology
سال: 2004
ISSN: 0012-1606
DOI: 10.1016/j.ydbio.2004.01.037