Abstract：
Purpose:The cone-rod homeobox (CRX) transcription factor is essential for photoreceptor gene expression, differentiation, and survival. Human CRX mutations can cause dominant retinopathies of varying onset and phenotype severity. In animal models, dominant frameshift Crx mutations introduce a premature termination codon (PTC), producing inactive truncated proteins that interfere with normal CRX function. Previously, a mutant mouse, TVRM65, was reported to carry a recessive late PTC mutation, Crx-L253X. More detailed phenotype analysis of the pathogenicity of Crx-L253X sheds new light on the variability of CRX-linked diseases. Methods:Homozygous (L253X/X); heterozygous (L253X/+); Crx-/- and control C57BL/6J (WT) mice were analyzed at various ages for changes in retinal function (ERG), morphology (histology) and photoreceptor gene expression (qRT-PCR). Results:At 1 month, L253X/X mice lack visual function, show greater reductions in retinal thickness, and distinct gene expression changes relative to Crx-/-, suggesting that the phenotype of L253X/X is more severe than Crx-/-. L253X/+ mice have reduced rod/cone function, but normal retinal morphology at all ages tested. qRT-PCR assays described a complex phenotype in which both developing and mature photoreceptors are unable to maintain proper gene expression. L253X mRNA/protein is overexpressed relative to normal Crx, suggesting a pathogenic mechanism similar to early PTC mutations. However, the overexpression is less pronounced, correlating with a relatively mild dominant phenotype. Conclusions:The L253X mouse provides a valuable model for CRX-associated retinopathy. The pathogenicity of CRX frameshift mutations depends on the position of the PTC, which in turn determines the degree of mutant mRNA/protein overproduction.
journal_name
Invest Ophthalmol Vis Scijournal_title
Investigative ophthalmology & visual scienceauthors
Ruzycki PA,Linne CD,Hennig AK,Chen Sdoi
10.1167/iovs.17-22075subject
Has Abstractpub_date
2017-09-01 00:00:00pages
4644-4653issue
11eissn
0146-0404issn
1552-5783pii
2654114journal_volume
58pub_type
杂志文章abstract：:Evidence for a population of acetylcholine (ACh) receptors in the human retina is presented. The authors have used the irreversible ligand 3H-propylbenzilylcholine mustard (3H-PrBCM) to label muscarinic receptors. 3H- or 125I-alpha-bungarotoxin (alpha-BTx) was used to label putative nicotinic receptors. Muscarinic rec...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：1985-11-01 00:00:00
abstract：PURPOSE:Insulin-like growth factor 2 receptor (IGF2R) associates with ligands that influence wound healing outcomes. However, the expression pattern of IGF2R and its role in the cornea is unknown. METHODS:Human keratocytes were isolated from donor corneas. Fibroblasts (fibroblast growth factor 2 [FGF2]-treated) or myo...
journal_title：Investigative ophthalmology & visual science
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journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：1994-02-01 00:00:00
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journal_title：Investigative ophthalmology & visual science
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journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
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journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.61.6.12
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journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：1985-05-01 00:00:00
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journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：1977-11-01 00:00:00
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journal_title：Investigative ophthalmology & visual science
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journal_title：Investigative ophthalmology & visual science
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journal_title：Investigative ophthalmology & visual science
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journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章,多中心研究
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journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：1981-06-01 00:00:00
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journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：1991-03-01 00:00:00
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journal_title：Investigative ophthalmology & visual science
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doi：
更新日期：1977-03-01 00:00:00
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journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：10.1167/iovs.08-3016
更新日期：2009-05-01 00:00:00
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journal_title：Investigative ophthalmology & visual science
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doi：10.1167/iovs.11-9021
更新日期：2012-04-30 00:00:00
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doi：10.1167/iovs.16-21122
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journal_title：Investigative ophthalmology & visual science
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doi：
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journal_title：Investigative ophthalmology & visual science
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doi：
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journal_title：Investigative ophthalmology & visual science
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journal_title：Investigative ophthalmology & visual science
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journal_title：Investigative ophthalmology & visual science
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journal_title：Investigative ophthalmology & visual science
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doi：
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doi：
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journal_title：Investigative ophthalmology & visual science
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doi：
更新日期：2002-07-01 00:00:00
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journal_title：Investigative ophthalmology & visual science
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