title: Changes in gene expression associated with retinal degeneration in the rd3 mouse.
abstract: OBJECTIVE
  To identify and characterize changes in gene expression associated with photoreceptor degeneration in the rd3 mouse model of Leber congenital amaurosis (LCA) type 12.
  
  
  METHODS
  Global genome expression profiling using microarray technology was performed on total RNA extracts from rd3 and wild-type control mouse retinas at postnatal day 21. Quantitative PCR analysis of selected transcripts was performed to validate the microarray results.
  
  
  RESULTS
  Functional annotation of differentially regulated genes in the rd3 mouse defined key canonical pathways, including phototransduction, glycerophospholipid metabolism, tumor necrosis factor receptor 1 signaling, and endothelin signaling. Overall, 1,140 of approximately 55,800 transcripts were differentially represented. In particular, a large percentage of the upregulated transcripts encode proteins involved in the immune response; whereas the downregulated transcripts encode proteins involved in phototransduction and lipid metabolism.
  
  
  CONCLUSIONS
  This analysis has elucidated several candidate genes and pathways, thus providing insight into the pathogenic mechanisms underlying the photoreceptor degeneration in the rd3 mouse retina and indicating directions for future studies.
authors.affiliation: Department of Biochemistry and Molecular Biology, Centre for Macular Research University of British Columbia Vancouver, B.C. V6T 1Z3 Canada.
authors.forename: Christiana L
authors.initials: CL
authors.lastname: Cheng
authors.forename: Robert S
authors.initials: RS
authors.lastname: Molday
mesh_terms: D000818:Animals; D001947:Breeding; D004195:Disease Models, Animal; D015536:Down-Regulation / Q000235:genetics; D005455:Fluorescent Antibody Technique; D020869:Gene Expression Profiling; D005786:Gene Expression Regulation; D005904:Glial Fibrillary Acidic Protein / Q000378:metabolism; D050356:Lipid Metabolism / Q000235:genetics; D051379:Mice; D009687:Nuclear Proteins / Q000235:genetics*; D020411:Oligonucleotide Array Sequence Analysis; D020419:Photoreceptor Cells, Vertebrate / Q000378:metabolism / Q000473:pathology; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D060888:Real-Time Polymerase Chain Reaction; D015203:Reproducibility of Results; D012162:Retinal Degeneration / Q000235:genetics*; D015398:Signal Transduction / Q000235:genetics; D012984:Software; D015854:Up-Regulation / Q000235:genetics
chemical_list: D005904:Glial Fibrillary Acidic Protein; D009687:Nuclear Proteins; D012333:RNA, Messenger; C516799:retinal degeneration 3 protein, mouse