| Microarray analysis of iris gene expression in mice with mutations influencing pigmentation. | |
| | |
MedLine Citation:
|
PMID: 20739468 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
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. |
| | |
Authors:
|
Colleen M Trantow; Tryphena L Cuffy; John H Fingert; Markus H Kuehn; Michael G Anderson |
Related Documents
:
|
7310308 - Experimental evidence for autonomous action of the periodic albinism (ap) gene within d... 12548288 - Ru2 and ru encode mouse orthologs of the genes mutated in human hermansky-pudlak syndro... 9893828 - L-cone pigment genes expressed in normal colour vision. 11058128 - Blocking transcription of the human rhodopsin gene by triplex-mediated dna photocrossli... 18809798 - Conditional dicer gene deletion in the postnatal myocardium provokes spontaneous cardia... 20086118 - Transcriptional changes in cift-introduced transgenic trifoliate orange (poncirus trifo... |
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: 2013-04-26 |
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 |
Affiliation:
|
Department of Molecular Physiology and Biophysics, University of Iowa, Iowa City, IA, USA. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Albinism, Ocular
/
genetics*,
pathology Albinism, Oculocutaneous / genetics*, pathology Animals Disease Models, Animal Exfoliation Syndrome / genetics*, pathology Eye Proteins / genetics Female Gene Expression Profiling* Gene Expression Regulation / physiology* Iris / metabolism*, pathology Membrane Glycoproteins / genetics Mice Mice, Inbred C57BL Microarray Analysis Monophenol Monooxygenase / genetics Mutation / genetics* Oxidoreductases / genetics Phenotype Proteins / genetics Reverse Transcriptase Polymerase Chain Reaction |
| Grant Support | |
ID/Acronym/Agency:
|
EY017673/EY/NEI NIH HHS; EY017673-02S2/EY/NEI NIH HHS; EY019485/EY/NEI NIH HHS; R01 EY017673/EY/NEI NIH HHS; R01 EY017673-02S2/EY/NEI NIH HHS; R01 EY017673-03/EY/NEI NIH HHS; R01 EY019485/EY/NEI NIH HHS |
| Chemical | |
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 1.14.18.1/Monophenol Monooxygenase |
| Comments/Corrections | |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Comparison of candidate materials for a synthetic osteo-odonto keratoprosthesis device.
Next Document: Correlations between M-CHARTS and PHP findings and subjective perception of metamorphopsia in patien...