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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.

Titel:	Interactions between C8orf37 and FAM161A, Two Ciliary Proteins Essential for Photoreceptor Survival.
Autor/in / Beteiligte Person:	Liu, Y ; Chen, J ; Sager, R ; Sasaki, E ; Hu, H
Zeitschrift:	International journal of molecular sciences, Jg. 23 (2022-10-10), Heft 19
Veröffentlichung:	Basel, Switzerland : MDPI, [2000-, 2022
Medientyp:	academicJournal
ISSN:	1422-0067 (electronic)
DOI:	10.3390/ijms231912033
Schlagwort:	Amino Acids metabolism Epitopes metabolism HEK293 Cells Humans Photoreceptor Cells metabolism Eye Proteins genetics Eye Proteins metabolism Proteins genetics Proteins metabolism Retinitis Pigmentosa genetics Retinitis Pigmentosa metabolism
Sonstiges:	Nachgewiesen in: MEDLINE Sprachen: English Publication Type: Journal Article Language: English [Int J Mol Sci] 2022 Oct 10; Vol. 23 (19). <i>Date of Electronic Publication: </i>2022 Oct 10. MeSH Terms: Eye Proteins* / genetics ; Eye Proteins* / metabolism ; Proteins* / genetics ; Proteins* / metabolism ; Retinitis Pigmentosa* / genetics ; Retinitis Pigmentosa* / metabolism ; Amino Acids / metabolism ; Epitopes / metabolism ; HEK293 Cells ; Humans ; Photoreceptor Cells / metabolism References: Methods Enzymol. 1995;255:331-42. (PMID: 8524119) ; Hum Mol Genet. 2014 Oct 1;23(19):5197-210. (PMID: 24833722) ; J Cell Sci. 2009 Apr 15;122(Pt 8):1192-200. (PMID: 19339551) ; Ophthalmic Genet. 2016 Sep;37(3):290-3. (PMID: 26854863) ; Hum Mol Genet. 2015 Apr 15;24(8):2185-200. (PMID: 25552655) ; Int J Ophthalmol. 2019 Jun 18;12(6):915-923. (PMID: 31236346) ; Mol Vis. 2015 Mar 07;21:236-43. (PMID: 25802487) ; Mol Vis. 2014 Feb 07;20:178-82. (PMID: 24520187) ; Biochim Biophys Acta Mol Basis Dis. 2019 Oct 1;1865(10):2694-2705. (PMID: 31348989) ; Invest Ophthalmol Vis Sci. 2003 Oct;44(10):4171-83. (PMID: 14507858) ; Am J Hum Genet. 2010 Sep 10;87(3):382-91. (PMID: 20705279) ; Ophthalmic Genet. 2016 Sep;37(3):294-300. (PMID: 26865426) ; Hum Mol Genet. 2012 Nov 1;21(21):4573-86. (PMID: 22791751) ; Eye (Lond). 2015 Sep;29(9):1226-32. (PMID: 26113502) ; Invest Ophthalmol Vis Sci. 2015 Nov;56(12):7418-26. (PMID: 26574802) ; Ophthalmic Genet. 2016;37(1):68-75. (PMID: 25113443) ; J Neurosci. 2018 Mar 28;38(13):3160-3176. (PMID: 29440555) ; Hum Mol Genet. 2016 Jun 1;25(11):2283-2294. (PMID: 27008867) ; Hum Mol Genet. 2012 Dec 1;21(23):5174-84. (PMID: 22940612) ; J Med Genet. 2016 Nov;53(11):761-767. (PMID: 27208204) ; Genome Res. 2005 Mar;15(3):376-84. (PMID: 15710747) ; J Clin Invest. 2008 Aug;118(8):2908-16. (PMID: 18654668) ; Am J Hum Genet. 2012 Jan 13;90(1):102-9. (PMID: 22177090) ; Dev Cell. 2010 Mar 16;18(3):410-24. (PMID: 20230748) ; Neuron. 2001 Dec 6;32(5):775-86. (PMID: 11738025) ; Invest Ophthalmol Vis Sci. 2014 Dec 16;56(1):420-30. (PMID: 25515582) ; Invest Ophthalmol Vis Sci. 2013 Jul 12;54(7):4683-90. (PMID: 23788369) ; Eur J Hum Genet. 2014 Jan;22(1):99-104. (PMID: 23591405) ; Mol Biol Cell. 2012 Sep;23(17):3322-35. (PMID: 22767577) ; Vision Res. 1986;26(8):1177-85. (PMID: 3798752) ; Sci Rep. 2015 Aug 26;5:13187. (PMID: 26306921) ; Invest Ophthalmol Vis Sci. 2014 Aug 05;55(10):6213-23. (PMID: 25097241) ; Am J Hum Genet. 2010 Sep 10;87(3):376-81. (PMID: 20705278) ; Ophthalmic Genet. 2016;37(1):44-52. (PMID: 25007332) ; Am J Hum Genet. 2017 Jan 5;100(1):75-90. (PMID: 28041643) ; Invest Ophthalmol Vis Sci. 2014 Apr 07;55(4):2259-68. (PMID: 24618324) ; Sci Rep. 2019 Feb 4;9(1):1219. (PMID: 30718709) ; Proc Natl Acad Sci U S A. 2003 Apr 1;100(7):3965-70. (PMID: 12651948) ; Exp Eye Res. 1985 Dec;41(6):701-20. (PMID: 3830736) ; Nat Genet. 1997 Jul;16(3):277-82. (PMID: 9207794) ; Genome Res. 2004 Jul;14(7):1324-32. (PMID: 15231748) ; PLoS One. 2014 Mar 20;9(3):e92479. (PMID: 24651477) ; J Clin Invest. 2011 Jun;121(6):2169-80. (PMID: 21606596) Grant Information: R01 EY028555 United States EY NEI NIH HHS; R01 HD083680 United States HD NICHD NIH HHS; R21 EY031002 United States EY NEI NIH HHS; R01EY028555, R21EY031002 United States NH NIH HHS Contributed Indexing: Keywords: Bardet-Biedl syndrome; C8orf37; FAM161A; cone–rod dystrophy; retinal degeneration; retinitis pigmentosa Substance Nomenclature: 0 (Amino Acids) ; 0 (C8orf37 protein, human) ; 0 (Epitopes) ; 0 (Eye Proteins) ; 0 (FAM161A protein, human) ; 0 (Proteins) Entry Date(s): Date Created: 20221014 Date Completed: 20221017 Latest Revision: 20240517 Update Code: 20240517 PubMed Central ID: PMC9570145

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Interactions between C8orf37 and FAM161A, Two Ciliary Proteins Essential for Photoreceptor Survival.