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Systematic Ocular Phenotyping of Knockout Mouse Lines Identifies Genes Associated With Age-Related Corneal Dystrophies
A. Briere, P. Vo, B. Yang, D. Adams, T. Amano, O. Amarie, Z. Berberovic, L. Bower, SDM. Brown, S. Burrill, SY. Cho, S. Clementson-Mobbs, A. D'souza, M. Eskandarian, AM. Flenniken, H. Fuchs, V. Gailus-Durner, Y. Hérault, M. Hrabe de Angelis, S....
Jazyk angličtina Země Spojené státy americké
Typ dokumentu časopisecké články
Grantová podpora
K08 EY027463
NEI NIH HHS - United States
UL1 TR001860
NCATS NIH HHS - United States
U54 HG006364
NHGRI NIH HHS - United States
TL1 TR001861
NCATS NIH HHS - United States
R03 OD032622
NIH HHS - United States
U42 OD011175
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
40323269
DOI
10.1167/iovs.66.5.7
Knihovny.cz E-zdroje
- MeSH
- dědičné dystrofie rohovky * genetika metabolismus MeSH
- fenotyp MeSH
- lidé MeSH
- modely nemocí na zvířatech MeSH
- myši knockoutované MeSH
- myši MeSH
- stárnutí * genetika MeSH
- zvířata MeSH
- Check Tag
- lidé MeSH
- myši MeSH
- zvířata MeSH
- Publikační typ
- časopisecké články MeSH
PURPOSE: This study investigates genes contributing to late-adult corneal dystrophies (LACDs) in aged mice, with potential implications for late-onset corneal dystrophies (CDs) in humans. METHODS: The International Mouse Phenotyping Consortium (IMPC) database, containing data from 8901 knockout mouse lines, was filtered to include late-adult mice (49+ weeks) with significant (P < 0.0001) CD phenotypes. Candidate genes were mapped to human orthologs using the Mouse Genome Informatics group, with expression analyzed via PLAE and a literature review for prior CD associations. Comparative analyses of LACD genes from IMPC and established human CD genes from IC3D included protein interactions (STRING), biological processes (PANTHER), and molecular pathways (KEGG). RESULTS: Analysis identified 14 genes linked to late-adult abnormal corneal phenotypes. Of these, 2 genes were previously associated with CDs in humans, while 12 were novel. Seven of the 14 genes (50%) were expressed in the human cornea based on single-cell transcriptomics. Protein-protein interactions via STRING showed several significant interactions with known human CD genes. PANTHER analysis identified six biological processes shared with established human CD genes. Two genes (Rgs2 and Galnt9) were involved in pathways related to human corneal diseases, including cGMP-PKG signaling, mucin-type O-glycan biosynthesis, and oxytocin signaling. Other candidates were implicated in pathways such as pluripotency of stem cells, MAPK signaling, WNT signaling, actin cytoskeleton regulation, and cellular senescence. CONCLUSIONS: This study identified 14 genes linked to LACD in knockout mice, 12 of which are novel in corneal biology. These genes may serve as potential therapeutic targets for treating corneal diseases in aging human populations.
California Northstate University College of Medicine Elk Grove California United States
College of Veterinary Medicine Seoul National University Seoul Republic of Korea
Department of Molecular and Life Science Hanyang University Seoul Republic of Korea
German Center for Diabetes Research Neuherberg Germany
Institute of Developmental Genetics Helmholtz Zentrum München 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
Mouse Biology Program University of California Davis Davis California United States
RIKEN BioResource Research Center Tsukuba Japan
The Centre for Phenogenomics The Hospital for Sick Children Toronto Ontario Canada
The Jackson Laboratory Bar Harbor Maine United States
The Wellcome Trust Sanger Institute Wellcome Genome Campus Hinxton Cambridge United Kingdom
Touro University California College of Osteopathic Medicine Vallejo California United States
University of California Davis School of Medicine Sacramento California United States
Citace poskytuje Crossref.org
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