Interactions between C8orf37 and FAM161A, Two Ciliary Proteins Essential for Photoreceptor Survival
Mutations in C8orf37 cause Bardet-Biedl syndrome (BBS), retinitis pigmentosa (RP), and cone–rod dystrophy (CRD), all manifest in photoreceptor degeneration. Little is known about which proteins C8orf37 interacts with to contribute to photoreceptor survival. To determine the proteins that potentially...
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| Format: | Article |
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MDPI AG
2022-10-01
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| Series: | International Journal of Molecular Sciences |
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| Online Access: | https://www.mdpi.com/1422-0067/23/19/12033 |
| _version_ | 1797478803830734848 |
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| author | Yu Liu Jinjun Chen Rachel Sager Erika Sasaki Huaiyu Hu |
| author_facet | Yu Liu Jinjun Chen Rachel Sager Erika Sasaki Huaiyu Hu |
| author_sort | Yu Liu |
| collection | DOAJ |
| description | Mutations in C8orf37 cause Bardet-Biedl syndrome (BBS), retinitis pigmentosa (RP), and cone–rod dystrophy (CRD), all manifest in photoreceptor degeneration. Little is known about which proteins C8orf37 interacts with to contribute to photoreceptor survival. To determine the proteins that potentially interact with C8orf37, we carried out a yeast two-hybrid (Y2H) screen using C8orf37 as a bait. FAM161A, a microtubule-binding protein localized at the photoreceptor cilium required for photoreceptor survival, was identified as one of the preys. Double immunofluorescence staining and proximity ligation assay (PLA) of marmoset retinal sections showed that C8orf37 was enriched and was co-localized with FAM161A at the ciliary base of photoreceptors. Epitope-tagged C8orf37 and FAM161A, expressed in HEK293 cells, were also found to be co-localized by double immunofluorescence staining and PLA. Furthermore, interaction domain mapping assays identified that the N-terminal region of C8orf37 and amino acid residues 341-517 within the PFAM UPF0564 domain of FAM161A were critical for C8orf37–FAM161A interaction. These data suggest that the two photoreceptor survival proteins, C8orf37 and FAM161A, interact with each other which may contribute to photoreceptor health. |
| first_indexed | 2024-03-09T21:36:46Z |
| format | Article |
| id | doaj.art-eb78aa45ac04467dbd8d4da6bd90bb0a |
| institution | Directory Open Access Journal |
| issn | 1661-6596 1422-0067 |
| language | English |
| last_indexed | 2024-03-09T21:36:46Z |
| publishDate | 2022-10-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | International Journal of Molecular Sciences |
| spelling | doaj.art-eb78aa45ac04467dbd8d4da6bd90bb0a2023-11-23T20:43:23ZengMDPI AGInternational Journal of Molecular Sciences1661-65961422-00672022-10-0123191203310.3390/ijms231912033Interactions between C8orf37 and FAM161A, Two Ciliary Proteins Essential for Photoreceptor SurvivalYu Liu0Jinjun Chen1Rachel Sager2Erika Sasaki3Huaiyu Hu4Center for Vision Research, Departments of Neuroscience and Physiology and of Ophthalmology and Visual Sciences, Upstate Medical University, Syracuse, NY 13210, USACenter for Vision Research, Departments of Neuroscience and Physiology and of Ophthalmology and Visual Sciences, Upstate Medical University, Syracuse, NY 13210, USACenter for Vision Research, Departments of Neuroscience and Physiology and of Ophthalmology and Visual Sciences, Upstate Medical University, Syracuse, NY 13210, USADepartment of Marmoset Biology and Medicine, Central Institute for Experimental Animals, Tonomachi, Kawasaki 210-0821, Kanagawa, JapanCenter for Vision Research, Departments of Neuroscience and Physiology and of Ophthalmology and Visual Sciences, Upstate Medical University, Syracuse, NY 13210, USAMutations in C8orf37 cause Bardet-Biedl syndrome (BBS), retinitis pigmentosa (RP), and cone–rod dystrophy (CRD), all manifest in photoreceptor degeneration. Little is known about which proteins C8orf37 interacts with to contribute to photoreceptor survival. To determine the proteins that potentially interact with C8orf37, we carried out a yeast two-hybrid (Y2H) screen using C8orf37 as a bait. FAM161A, a microtubule-binding protein localized at the photoreceptor cilium required for photoreceptor survival, was identified as one of the preys. Double immunofluorescence staining and proximity ligation assay (PLA) of marmoset retinal sections showed that C8orf37 was enriched and was co-localized with FAM161A at the ciliary base of photoreceptors. Epitope-tagged C8orf37 and FAM161A, expressed in HEK293 cells, were also found to be co-localized by double immunofluorescence staining and PLA. Furthermore, interaction domain mapping assays identified that the N-terminal region of C8orf37 and amino acid residues 341-517 within the PFAM UPF0564 domain of FAM161A were critical for C8orf37–FAM161A interaction. These data suggest that the two photoreceptor survival proteins, C8orf37 and FAM161A, interact with each other which may contribute to photoreceptor health.https://www.mdpi.com/1422-0067/23/19/12033retinal degenerationBardet-Biedl syndromeC8orf37FAM161Acone–rod dystrophyretinitis pigmentosa |
| spellingShingle | Yu Liu Jinjun Chen Rachel Sager Erika Sasaki Huaiyu Hu Interactions between C8orf37 and FAM161A, Two Ciliary Proteins Essential for Photoreceptor Survival International Journal of Molecular Sciences retinal degeneration Bardet-Biedl syndrome C8orf37 FAM161A cone–rod dystrophy retinitis pigmentosa |
| title | Interactions between C8orf37 and FAM161A, Two Ciliary Proteins Essential for Photoreceptor Survival |
| title_full | Interactions between C8orf37 and FAM161A, Two Ciliary Proteins Essential for Photoreceptor Survival |
| title_fullStr | Interactions between C8orf37 and FAM161A, Two Ciliary Proteins Essential for Photoreceptor Survival |
| title_full_unstemmed | Interactions between C8orf37 and FAM161A, Two Ciliary Proteins Essential for Photoreceptor Survival |
| title_short | Interactions between C8orf37 and FAM161A, Two Ciliary Proteins Essential for Photoreceptor Survival |
| title_sort | interactions between c8orf37 and fam161a two ciliary proteins essential for photoreceptor survival |
| topic | retinal degeneration Bardet-Biedl syndrome C8orf37 FAM161A cone–rod dystrophy retinitis pigmentosa |
| url | https://www.mdpi.com/1422-0067/23/19/12033 |
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