Ocular Phenotyping of Knockout Mice Identifies Genes Associated With Late Adult Retinal Phenotypes.
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Hang Abraham, Shao Andy, Shea Michael, Roux Michel J, Imai-Leonard Denise M, Adams David J, Amano Takanori, Amarie Oana V, Berberovic Zorana, Bour Raphaël, Bower Lynette, Leonard Brian C, Brown Steve D, Cho Soo Young, Clementson-Mobbs Sharon, D'Souza Abigail J, Dickinson Mary, Eskandarian Mohammad, Flenniken Ann M, Fuchs Helmut, Gailus-Durner Valerie, Heaney Jason, Hérault Yann, Hrabe de Angelis Martin, Hsu Chih-Wei, Jin Shundan, Joynson Russell, Kang Yeon Kyung, Kim Haerim, Masuya Hiroshi, Nam Ki-Hoan, Noh Hyuna, Nutter Lauryl M J, Palkova Marcela, Prochazka Jan, Raishbrook Miles Joseph, Riet Fabrice, Salazar Jason, Seavitt John Richard, Sedlacek Radislav, Selloum Mohammed, Seo Kyoung Yul, Seong Je Kyung, Shin Hae-Sol, Shiroishi Toshihiko, Sorg Tania, Stewart Michelle, Tamura Masaru, Tolentino Heather, Udensi Uchechukwu, Wells Sara, Wurst Wolfgang, Yoshiki Atsushi, Meziane Hamid, Yiu Glenn, Sieving Paul A, Lanoue Louise, Lloyd K C Kent, McKerlie Colin, Moshiri Ala, International Mouse Phenotyping Consortium (IMPC)
Аннотация
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.