Document Detail

Microarray analysis of iris gene expression in mice with mutations influencing pigmentation.
MedLine Citation:
PMID:  20739468     Owner:  NLM     Status:  MEDLINE    
PURPOSE: Several ocular diseases involve the iris, notably including oculocutaneous albinism, pigment dispersion syndrome, and exfoliation syndrome. To screen for candidate genes that may contribute to the pathogenesis of these diseases, genome-wide iris gene expression patterns were comparatively analyzed from mouse models of these conditions.
METHODS: Iris samples from albino mice with a Tyr mutation, pigment dispersion-prone mice with Tyrp1 and Gpnmb mutations, and mice resembling exfoliation syndrome with a Lyst mutation were compared with samples from wild-type mice. All mice were strain (C57BL/6J), age (60 days old), and sex (female) matched. Microarrays were used to compare transcriptional profiles, and differentially expressed transcripts were described by functional annotation clustering using DAVID Bioinformatics Resources. Quantitative real-time PCR was performed to validate a subset of identified changes.
RESULTS: Compared with wild-type C57BL/6J mice, each disease context exhibited a large number of statistically significant changes in gene expression, including 685 transcripts differentially expressed in albino irides, 403 in pigment dispersion-prone irides, and 460 in exfoliative-like irides.
CONCLUSIONS: Functional annotation clusterings were particularly striking among the overrepresented genes, with albino and pigment dispersion-prone irides both exhibiting overall evidence of crystallin-mediated stress responses. Exfoliative-like irides from mice with a Lyst mutation showed overall evidence of involvement of genes that influence immune system processes, lytic vacuoles, and lysosomes. These findings have several biologically relevant implications, particularly with respect to secondary forms of glaucoma, and represent a useful resource as a hypothesis-generating dataset.
Colleen M Trantow; Tryphena L Cuffy; John H Fingert; Markus H Kuehn; Michael G Anderson
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Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't     Date:  2011-01-05
Journal Detail:
Title:  Investigative ophthalmology & visual science     Volume:  52     ISSN:  1552-5783     ISO Abbreviation:  Invest. Ophthalmol. Vis. Sci.     Publication Date:  2011 Jan 
Date Detail:
Created Date:  2011-01-06     Completed Date:  2011-02-07     Revised Date:  2014-09-15    
Medline Journal Info:
Nlm Unique ID:  7703701     Medline TA:  Invest Ophthalmol Vis Sci     Country:  United States    
Other Details:
Languages:  eng     Pagination:  237-48     Citation Subset:  IM    
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MeSH Terms
Albinism, Ocular / genetics*,  pathology
Albinism, Oculocutaneous / genetics*,  pathology
Disease Models, Animal
Exfoliation Syndrome / genetics*,  pathology
Eye Proteins / genetics
Gene Expression Profiling*
Gene Expression Regulation / physiology*
Iris / metabolism*,  pathology
Membrane Glycoproteins / genetics
Mice, Inbred C57BL
Microarray Analysis
Monophenol Monooxygenase / genetics
Mutation / genetics*
Oxidoreductases / genetics
Proteins / genetics
Reverse Transcriptase Polymerase Chain Reaction
Grant Support
EY017673/EY/NEI NIH HHS; EY017673-02S2/EY/NEI NIH HHS; EY019485/EY/NEI NIH HHS; R01 EY017673/EY/NEI NIH HHS; R01 EY019485/EY/NEI NIH HHS
Reg. No./Substance:
0/Eye Proteins; 0/Gpnmb protein, mouse; 0/Lyst protein, mouse; 0/Membrane Glycoproteins; 0/Proteins; EC 1.-/Oxidoreductases; EC 1.14.18.-/Tyrp1 protein, mouse; EC Monooxygenase

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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