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Ocular Phenotyping of Knockout Mice Identifies Genes Associated With Late Adult Retinal Phenotypes
A. Hang, A. Shao, M. Shea, MJ. Roux, DM. Imai-Leonard, DJ. Adams, T. Amano, OV. Amarie, Z. Berberovic, R. Bour, L. Bower, BC. Leonard, SD. Brown, SY. Cho, S. Clementson-Mobbs, AJ. D'Souza, M. Dickinson, M. Eskandarian, AM. Flenniken, H. Fuchs, V....
Jazyk angličtina Země Spojené státy americké
Typ dokumentu časopisecké články
Grantová podpora
K08 EY027463
NEI NIH HHS - United States
R03 OD032622
NIH HHS - United States
U42 OD011175
NIH HHS - United States
U54 HG006364
NHGRI NIH HHS - United States
NLK
Directory of Open Access Journals
od 2016
Free Medical Journals
od 1962
PubMed Central
od 2007
ROAD: Directory of Open Access Scholarly Resources
od 1977
PubMed
40548636
DOI
10.1167/iovs.66.6.64
Knihovny.cz E-zdroje
- MeSH
- fenotyp MeSH
- lidé MeSH
- makulární degenerace * genetika MeSH
- modely nemocí na zvířatech MeSH
- myši knockoutované MeSH
- myši MeSH
- oční proteiny * genetika MeSH
- retina * patologie metabolismus MeSH
- zvířata MeSH
- Check Tag
- lidé MeSH
- myši MeSH
- zvířata MeSH
- Publikační typ
- časopisecké články MeSH
PURPOSE: Analyze phenotypic data from knockout mice with late-adult retinal pathologic phenotypes to identify genes associated with development of adult-onset retinal diseases. METHODS: The International Mouse Phenotyping Consortium (IMPC) database was queried for genes associated with abnormal retinal phenotypes in the late-adult knockout mouse pipeline (49-80 weeks postnatal age). We identified human orthologs and performed protein-protein analysis and biological pathways analysis with known inherited retinal disease (IRD) and age-related macular degeneration (AMD) genes using Search Tool for the Retrieval of Interacting Genes/Proteins (STRING), PLatform for Analysis of single cell Eye in a Disk (PLAE), Protein Analysis Through Evolutionary Relationships (PANTHER), and Kyoto Encyclopedia of Genes and Genomes (KEGG). RESULTS: Screening of 587 late-adult mouse genes yielded 12 with abnormal retinal phenotypes, which corresponded to 20 human orthologs. Three of the 12 mouse genes and two of the 20 human orthologs were previously implicated in retinal pathology or physiology in a literature review. Although all of the genes demonstrated retinal pathology when deleted from the mouse genome, most do not have established roles in human retinal disease. Furthermore, human protein-protein analysis and biological pathway analysis yielded only a few relationships between the candidate gene list and that of known IRD and AMD genes, suggesting they may represent novel retinal functions. CONCLUSIONS: We identified 12 mouse genes with significant late-adult abnormal retinal pathology, eight of which have not been previously implicated in either mouse or human retinal physiology or pathology. These serve as novel retinal disease gene candidates for late-onset retinal disease.
College of Veterinary Medicine Seoul National University Seoul Republic of Korea
Department of Integrative Physiology Baylor College of Medicine Houston Texas United States
Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas United States
Department of Molecular and Life Science Hanyang University Seoul Republic of Korea
German Center for Diabetes Research Neuherberg Germany
German Center for Mental Health Munich Augsburg Germany
German Center for Neurodegenerative Diseases Munich Germany
Institute of Developmental Genetics Helmholtz Munich Neuherberg Germany
Institute of Experimental Genetics German Mouse Clinic Helmholtz Zentrum München Neuherberg Germany
Mary Lyon Centre Medical Research Council Harwell Institute Harwell United Kingdom
Medical Research Council Harwell Institute Harwell United Kingdom
Mouse Biology Program University of California Davis Davis California United States
Munich Cluster of Systems Neurology Munich Germany
RIKEN BioResource Research Center Tsukuba Japan
The Centre for Phenogenomics The Hospital for Sick Children Toronto Ontario Canada
The Wellcome Trust Sanger Institute Wellcome Genome Campus Hinxton Cambridge United Kingdom
Citace poskytuje Crossref.org
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