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| Content Provider | Springer Nature : BioMed Central |
|---|---|
| Author | Vo, Peter Imai-Leonard, Denise M. Yang, Benjamin Briere, Andrew Shao, Andy Casanova, M. Isabel Adams, David Amano, Takanori Amarie, Oana Berberovic, Zorana Bower, Lynette Braun, Robert Brown, Steve Burrill, Samantha Cho, Soo Young Clementson-Mobbs, Sharon D’Souza, Abigail Dickinson, Mary Eskandarian, Mohammad Flenniken, Ann M. Fuchs, Helmut Gailus-Durner, Valerie Heaney, Jason Hérault, Yann Angelis, Martin Hrabe de Hsu, Chih-Wei Jin, Shundan Joynson, Russell Kang, Yeon Kyung Kim, Haerim Masuya, Hiroshi Meziane, Hamid Murray, Steve Nam, Ki-Hoan Noh, Hyuna Nutter, Lauryl M. J. Palkova, Marcela Prochazka, Jan Raishbrook, Miles Joseph Riet, Fabrice Ryan, Jennifer Salazar, Jason Seavey, Zachery Seavitt, John Richard Sedlacek, Radislav Selloum, Mohammed Seo, Kyoung Yul Seong, Je Kyung Shin, Hae-Sol Shiroishi, Toshihiko Stewart, Michelle Svenson, Karen Tamura, Masaru Tolentino, Heather Udensi, Uchechukwu Wells, Sara White, Jacqueline Willett, Amelia Wotton, Janine Wurst, Wolfgang Yoshiki, Atsushi Lanoue, Louise Lloyd, K. C. Kent Leonard, Brian C. Roux, Michel J. McKerlie, Colin Moshiri, Ala |
| Abstract | Purpose Corneal dysmorphologies (CDs) are typically classified as either regressive degenerative corneal dystrophies (CDtrs) or defective growth and differentiation-driven corneal dysplasias (CDyps). Both eye disorders have multifactorial etiologies. While previous work has elucidated many aspects of CDs, such as presenting symptoms, epidemiology, and pathophysiology, the genetic mechanisms remain incompletely understood. The purpose of this study was to analyze phenotype data from 8,707 knockout mouse lines to identify new genes associated with the development of CDs in humans. Methods 8,707 knockout mouse lines phenotyped by the International Mouse Phenotyping Consortium were queried for genes associated with statistically significant (P < 0.0001) abnormal cornea morphology to identify candidate CD genes. Corneal abnormalities were investigated by histopathology. A literature search was used to determine the proportion of candidate genes previously associated with CDs in mice and humans. Phenotypes of human orthologues of mouse candidate genes were compared with known human CD genes to identify protein-protein interactions and molecular pathways using the Search Tool for the Retrieval of Interacting Genes/Proteins (STRING), Protein Analysis Through Evolutionary Relationships (PANTHER), and Kyoto Encyclopedia of Genes and Genomes. Results Analysis of data from 8,707 knockout mouse lines identified 213 candidate CD genes. Of these, 37 (17%) genes were previously known to be associated with CD, including 14 in the mouse, 16 in humans, and 7 in both. The remaining 176 (83%) genes have not been previously implicated in CD. We also searched publicly available RNAseq data and found that 131 of the total 213 (61.5%) were expressed in adult human corneal tissue. STRING analysis showed several interactions within and between candidate and established CD proteins. All cellular pathways of the established genes were found in the PANTHER analysis of the candidate genes. Several of the candidate genes were implicated in corneal disease, such as TGF-ß signaling. We also identified other possible underappreciated mechanisms relevant to the human cornea. Conclusions We identified 213 mouse genes that resulted in statistically significant abnormal corneal phenotypes in knockout mice, many of which have not previously been implicated in corneal pathology. Bioinformatic analyses implicated candidate genes in several signaling pathways which are potential therapeutic targets. |
| Related Links | https://bmcgenomics.biomedcentral.com/counter/pdf/10.1186/s12864-025-11222-8.pdf |
| Ending Page | 11 |
| Page Count | 11 |
| Starting Page | 1 |
| File Format | HTM / HTML |
| ISSN | 14712164 |
| DOI | 10.1186/s12864-025-11222-8 |
| Journal | BMC Genomics |
| Issue Number | 1 |
| Volume Number | 26 |
| Language | English |
| Publisher | BioMed Central |
| Publisher Date | 2025-01-20 |
| Access Restriction | Open |
| Subject Keyword | Life Sciences Microarrays Proteomics Animal Genetics and Genomics Microbial Genetics and Genomics Plant Genetics and Genomics Corneal dysmorphologies Corneal disease Corneal dystrophies |
| Content Type | Text |
| Resource Type | Article |
| Subject | Biotechnology Genetics |
| Journal Impact Factor | 3.5/2023 |
| 5-Year Journal Impact Factor | 4.1/2023 |
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