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DLG1 functions upstream of SDCCAG3 and IFT20 to control ciliary targeting of polycystin-2.

التفاصيل البيبلوغرافية
العنوان: DLG1 functions upstream of SDCCAG3 and IFT20 to control ciliary targeting of polycystin-2.
المؤلفون: Rezi CK; Department of Biology, University of Copenhagen, Copenhagen, Denmark., Aslanyan MG; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands., Diwan GD; BioQuant, Heidelberg University, Heidelberg, Germany.; Biochemistry Center (BZH), Heidelberg University, Heidelberg, Germany., Cheng T; Department of Medicine (Nephrology Division) and Department of Cell Biology and Physiology, Washington University, St Louis, MO, USA., Chamlali M; Department of Biology, University of Copenhagen, Copenhagen, Denmark., Junger K; Institute for Ophthalmic Research, Eberhard Karl University of Tübingen, Tübingen, Germany., Anvarian Z; Department of Biology, University of Copenhagen, Copenhagen, Denmark., Lorentzen E; Department of Molecular Biology and Genetics - Protein Science, Aarhus University, Aarhus, Denmark., Pauly KB; Department of Biology, University of Copenhagen, Copenhagen, Denmark., Afshar-Bahadori Y; Department of Biology, University of Copenhagen, Copenhagen, Denmark., Fernandes EF; Center for Biopharmaceuticals, Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen, Denmark., Qian F; Division of Nephrology, Department of Medicine, University of Maryland School of Medicine, Baltimore, MD, USA., Tosi S; Danish BioImaging Infrastructure Image Analysis Core Facility (DBI-INFRA IACF), University of Copenhagen, Copenhagen, Denmark., Christensen ST; Department of Biology, University of Copenhagen, Copenhagen, Denmark., Pedersen SF; Department of Biology, University of Copenhagen, Copenhagen, Denmark., Strømgaard K; Center for Biopharmaceuticals, Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen, Denmark., Russell RB; BioQuant, Heidelberg University, Heidelberg, Germany.; Biochemistry Center (BZH), Heidelberg University, Heidelberg, Germany., Miner JH; Department of Medicine (Nephrology Division) and Department of Cell Biology and Physiology, Washington University, St Louis, MO, USA., Mahjoub MR; Department of Medicine (Nephrology Division) and Department of Cell Biology and Physiology, Washington University, St Louis, MO, USA., Boldt K; Institute for Ophthalmic Research, Eberhard Karl University of Tübingen, Tübingen, Germany., Roepman R; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands., Pedersen LB; Department of Biology, University of Copenhagen, Copenhagen, Denmark. lbpedersen@bio.ku.dk.
المصدر: EMBO reports [EMBO Rep] 2024 Jul; Vol. 25 (7), pp. 3040-3063. Date of Electronic Publication: 2024 Jun 07.
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 100963049 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1469-3178 (Electronic) Linking ISSN: 1469221X NLM ISO Abbreviation: EMBO Rep Subsets: MEDLINE
أسماء مطبوعة: Publication: 2024- : [London] : Nature Publishing Group
Original Publication: Oxford, UK : Published for EMBO by Oxford University Press, 2000-
مواضيع طبية MeSH: Cilia*/metabolism , TRPP Cation Channels*/metabolism , TRPP Cation Channels*/genetics , Discs Large Homolog 1 Protein*/metabolism , Carrier Proteins*/metabolism , Carrier Proteins*/genetics, Animals ; Mice ; Humans ; Protein Transport ; Mice, Knockout ; Kidney/metabolism ; Epithelial Cells/metabolism ; Protein Binding ; Vesico-Ureteral Reflux/metabolism ; Vesico-Ureteral Reflux/genetics ; Membrane Proteins/metabolism ; Membrane Proteins/genetics ; Urogenital Abnormalities
مستخلص: Polarized vesicular trafficking directs specific receptors and ion channels to cilia, but the underlying mechanisms are poorly understood. Here we describe a role for DLG1, a core component of the Scribble polarity complex, in regulating ciliary protein trafficking in kidney epithelial cells. Conditional knockout of Dlg1 in mouse kidney causes ciliary elongation and cystogenesis, and cell-based proximity labeling proteomics and fluorescence microscopy show alterations in the ciliary proteome upon loss of DLG1. Specifically, the retromer-associated protein SDCCAG3, IFT20, and polycystin-2 (PC2) are reduced in the cilia of DLG1-deficient cells compared to control cells. This phenotype is recapitulated in vivo and rescuable by re-expression of wild-type DLG1, but not a Congenital Anomalies of the Kidney and Urinary Tract (CAKUT)-associated DLG1 variant, p.T489R. Finally, biochemical approaches and Alpha Fold modelling suggest that SDCCAG3 and IFT20 form a complex that associates, at least indirectly, with DLG1. Our work identifies a key role for DLG1 in regulating ciliary protein composition and suggests that ciliary dysfunction of the p.T489R DLG1 variant may contribute to CAKUT.
(© 2024. The Author(s).)
التعليقات: Update of: bioRxiv. 2024 Mar 14:2023.11.10.566524. doi: 10.1101/2023.11.10.566524. (PMID: 37987012)
References: Annu Rev Biochem. 2005;74:219-45. (PMID: 15952887)
Nat Rev Genet. 2023 Jul;24(7):421-441. (PMID: 37072495)
Nat Commun. 2019 Sep 6;10(1):4072. (PMID: 31492868)
J Med Chem. 2008 Oct 23;51(20):6450-9. (PMID: 18811137)
J Cell Biol. 2000 Jan 10;148(1):147-58. (PMID: 10629225)
Elife. 2021 Jul 14;10:. (PMID: 34259627)
J Cell Sci. 2023 Apr 1;136(7):. (PMID: 37039101)
J Biol Chem. 2007 Sep 28;282(39):28691-28699. (PMID: 17635915)
Cell. 2011 May 13;145(4):513-28. (PMID: 21565611)
Cell Signal. 2020 Mar;67:109495. (PMID: 31816397)
Nat Rev Mol Cell Biol. 2022 Aug;23(8):541-558. (PMID: 35383336)
J Cell Biol. 2016 Aug 1;214(3):259-73. (PMID: 27458130)
Mol Biol Cell. 2006 May;17(5):2303-11. (PMID: 16525015)
PLoS Genet. 2011 Apr;7(4):e1001361. (PMID: 21490950)
J Cell Sci. 1998 Aug;111 ( Pt 16):2365-76. (PMID: 9683631)
Am J Physiol Renal Physiol. 2016 Apr 1;310(7):F596-F606. (PMID: 26739888)
Commun Integr Biol. 2012 May 1;5(3):287-90. (PMID: 22896795)
Cell. 2021 May 27;184(11):3022-3040.e28. (PMID: 33961781)
Am J Physiol Renal Physiol. 2009 Feb;296(2):F446-57. (PMID: 19052103)
Am J Hum Genet. 2005 Jul;77(1):154-60. (PMID: 15918153)
Kidney Int. 2016 Feb;89(2):476-86. (PMID: 26489027)
J Cell Biol. 2017 Jul 3;216(7):2131-2150. (PMID: 28576874)
J Biol Chem. 2000 Sep 15;275(37):28774-84. (PMID: 10859302)
Nat Biotechnol. 2016 Feb;34(2):184-191. (PMID: 26780180)
Kidney Int. 2020 Nov;98(5):1225-1241. (PMID: 32610050)
Neurosci Bull. 2021 Dec;37(12):1671-1682. (PMID: 34490521)
Kidney Int. 2005 Sep;68(3):955-65. (PMID: 16105026)
J Am Soc Nephrol. 2014 Jul;25(7):1375-86. (PMID: 24652803)
J Cell Biol. 1998 May 18;141(4):993-1008. (PMID: 9585417)
J Cell Sci. 2014 Nov 15;127(Pt 22):4940-53. (PMID: 25278552)
Cell Rep. 2013 Jun 27;3(6):1806-14. (PMID: 23746451)
EMBO Rep. 2017 Sep;18(9):1521-1535. (PMID: 28710093)
Differentiation. 2012 Feb;83(2):S30-42. (PMID: 22178116)
Nat Cell Biol. 2015 Mar;17(3):228-240. (PMID: 25686250)
Kidney Res Clin Pract. 2012 Jun;31(2):94-105. (PMID: 26889415)
Mol Cell Biol. 2001 Mar;21(5):1475-83. (PMID: 11238884)
J Cell Sci. 2018 Jun 6;131(11):. (PMID: 29724910)
Nat Rev Mol Cell Biol. 2008 Nov;9(11):833-45. (PMID: 18946473)
Curr Biol. 2002 Jun 4;12(11):R378-80. (PMID: 12062067)
Semin Nephrol. 2012 May;32(3):244-52. (PMID: 22835455)
J Cell Sci. 2022 Jun 15;135(12):. (PMID: 35673984)
Mol Biol Cell. 2006 Sep;17(9):3781-92. (PMID: 16775004)
Nat Methods. 2012 Jun 28;9(7):676-82. (PMID: 22743772)
Nat Commun. 2018 Aug 17;9(1):3310. (PMID: 30120249)
J Biol Chem. 2010 Oct 29;285(44):33584-8. (PMID: 20833712)
J Neurosci. 2009 Jul 8;29(27):8858-70. (PMID: 19587293)
Front Pediatr. 2018 Jun 15;6:175. (PMID: 29963541)
Nature. 2021 Aug;596(7873):583-589. (PMID: 34265844)
Gene. 2022 Jun 15;827:146313. (PMID: 35314260)
Front Cell Dev Biol. 2023 Jan 26;11:1113656. (PMID: 36776558)
Cell Signal. 2020 Aug;72:109630. (PMID: 32275942)
Dev Biol. 2014 Jun 15;390(2):160-9. (PMID: 24699546)
J Cell Biol. 2005 Jan 17;168(2):329-38. (PMID: 15657400)
Curr Biol. 2004 Aug 24;14(16):1451-61. (PMID: 15324661)
PLoS One. 2009 Aug 06;4(8):e6529. (PMID: 19657394)
Nat Metab. 2023 Mar;5(3):385-397. (PMID: 36879119)
Cilia. 2017 Mar 24;6:5. (PMID: 28352462)
Elife. 2018 Feb 14;7:. (PMID: 29443690)
Biochem J. 2006 May 1;395(3):587-98. (PMID: 16448387)
Nat Commun. 2017 Jan 30;8:14177. (PMID: 28134340)
Development. 2014 Jul;141(14):2796-802. (PMID: 25005475)
Nat Commun. 2023 Oct 16;14(1):6513. (PMID: 37845212)
Nat Commun. 2014 Nov 18;5:5482. (PMID: 25405894)
J Neurosci. 2001 Oct 1;21(19):7506-16. (PMID: 11567040)
Compr Physiol. 2012 Jan;2(1):779-803. (PMID: 23728985)
Proc Natl Acad Sci U S A. 2012 Feb 28;109(9):3317-22. (PMID: 22343531)
J Neurochem. 2007 Feb;100(4):1032-46. (PMID: 17156128)
J Cell Biol. 2014 Feb 3;204(3):395-408. (PMID: 24469637)
Cold Spring Harb Perspect Biol. 2017 Jun 1;9(6):. (PMID: 27638178)
Nat Protoc. 2016 Dec;11(12):2301-2319. (PMID: 27809316)
EMBO J. 2016 Apr 1;35(7):773-90. (PMID: 26912722)
Curr Opin Cell Biol. 2018 Apr;51:124-131. (PMID: 29579578)
Sci Rep. 2016 Oct 21;6:35399. (PMID: 27767179)
Hum Mol Genet. 2009 Dec 15;18(24):4711-23. (PMID: 19755384)
Proc Natl Acad Sci U S A. 2015 Aug 11;112(32):E4400-9. (PMID: 26216965)
PLoS Genet. 2008 Dec;4(12):e1000315. (PMID: 19112494)
Nat Cell Biol. 2016 Jul;18(7):814-21. (PMID: 27240320)
J Am Soc Nephrol. 2005 Apr;16(4):878-91. (PMID: 15743993)
Traffic. 2012 Jul;13(7):898-907. (PMID: 22420621)
Proc Natl Acad Sci U S A. 2006 Dec 26;103(52):19872-7. (PMID: 17172448)
J Am Soc Nephrol. 2013 Jun;24(7):1127-38. (PMID: 23661808)
Science. 1996 May 31;272(5266):1339-42. (PMID: 8650545)
J Cell Biol. 2011 Feb 21;192(4):631-45. (PMID: 21321097)
Kidney Int. 2015 Dec;88(6):1402-1410. (PMID: 26352300)
Sci Rep. 2018 May 9;8(1):7435. (PMID: 29743600)
Exp Cell Res. 2008 Oct 15;314(17):3118-29. (PMID: 18760273)
Nucleic Acids Res. 2022 Jan 7;50(D1):D543-D552. (PMID: 34723319)
Mol Biol Cell. 2016 Jan 15;27(2):308-20. (PMID: 26582389)
Nat Protoc. 2013 Nov;8(11):2281-2308. (PMID: 24157548)
J Med Genet. 2021 Jul;58(7):453-464. (PMID: 32631816)
Semin Cell Dev Biol. 2018 Sep;81:13-20. (PMID: 29056580)
Genes Dev. 2015 Feb 1;29(3):262-76. (PMID: 25644602)
Cells. 2019 Oct 29;8(11):. (PMID: 31671755)
J Cell Sci. 2023 Mar 1;136(5):. (PMID: 35403186)
Dev Cell. 2015 Nov 23;35(4):497-512. (PMID: 26585297)
J Am Soc Nephrol. 2002 Oct;13(10):2508-16. (PMID: 12239239)
Curr Biol. 2020 Jul 20;30(14):2791-2804.e6. (PMID: 32531288)
Development. 2007 May;134(9):1799-807. (PMID: 17435047)
Front Biosci. 2008 May 01;13:6693-707. (PMID: 18508688)
Cold Spring Harb Perspect Biol. 2017 Nov 1;9(11):. (PMID: 28320755)
معلومات مُعتمدة: NNF18SA0032928 Novo Nordisk Fonden (NNF); 20OI174 Dutch Kidney Foundation; 3103-00177B Danmarks Frie Forskningsfond (DFF); 201585/B/18/Z Wellcome Trust (WT); NNF22OC0080406 Novo Nordisk Fonden (NNF); R01-DK108005 United States DK NIDDK NIH HHS; 861329 European Union's Horizon 2020 research and innovation program Marie Sklodowska-Curie Innovative Training Networks; R01 DK108005 United States DK NIDDK NIH HHS; U54DK126114 PKD RRC; U54 DK126114 United States DK NIDDK NIH HHS; United Kingdom WT_ Wellcome Trust; 2032-00115B Danmarks Frie Forskningsfond (DFF)
فهرسة مساهمة: Keywords: DLG1; IFT20; Polycystin-2; Primary Cilia; SDCCAG3
المشرفين على المادة: 0 (TRPP Cation Channels)
0 (Discs Large Homolog 1 Protein)
0 (polycystic kidney disease 2 protein)
0 (Carrier Proteins)
0 (Dlg1 protein, mouse)
0 (Ift20 protein, mouse)
0 (Membrane Proteins)
SCR Disease Name: Cakut
تواريخ الأحداث: Date Created: 20240607 Date Completed: 20240711 Latest Revision: 20240808
رمز التحديث: 20240808
مُعرف محوري في PubMed: PMC11239879
DOI: 10.1038/s44319-024-00170-1
PMID: 38849673
قاعدة البيانات: MEDLINE
الوصف
تدمد:1469-3178
DOI:10.1038/s44319-024-00170-1