Suppr超能文献

肾囊蛋白-1通过多脯氨酸基序/SH3 结构域相互作用与多囊蛋白-1 形成复合物,并调节哺乳动物的凋亡反应。

Nephrocystin-1 forms a complex with polycystin-1 via a polyproline motif/SH3 domain interaction and regulates the apoptotic response in mammals.

机构信息

Division of Genetics and Cell Biology, Dulbecco Telethon Institute at Dibit, San Raffaele Scientific Institute, Milan, Italy.

出版信息

PLoS One. 2010 Sep 14;5(9):e12719. doi: 10.1371/journal.pone.0012719.

Abstract

Mutations in PKD1, the gene encoding for the receptor Polycystin-1 (PC-1), cause autosomal dominant polycystic kidney disease (ADPKD). The cytoplasmic C-terminus of PC-1 contains a coiled-coil domain that mediates an interaction with the PKD2 gene product, Polycystin-2 (PC-2). Here we identify a novel domain in the PC-1 C-terminal tail, a polyproline motif mediating an interaction with Src homology domain 3 (SH3). A screen for interactions using the PC-1 C-terminal tail identified the SH3 domain of nephrocystin-1 (NPHP1) as a potential binding partner of PC-1. NPHP1 is the product of a gene that is mutated in a different form of renal cystic disease, nephronophthisis (NPHP). We show that in vitro pull-down assays and NMR structural studies confirmed the interaction between the PC-1 polyproline motif and the NPHP1 SH3 domain. Furthermore, the two full-length proteins interact through these domains; using a recently generated model system allowing us to track endogenous PC-1, we confirm the interaction between the endogenous proteins. Finally, we show that NPHP1 trafficking to cilia does not require PC-1 and that PC-1 may require NPHP1 to regulate resistance to apoptosis, but not to regulate cell cycle progression. In line with this, we find high levels of apoptosis in renal specimens of NPHP patients. Our data uncover a link between two different ciliopathies, ADPKD and NPHP, supporting the notion that common pathogenetic defects, possibly involving de-regulated apoptosis, underlie renal cyst formation.

摘要

PKD1 基因突变导致常染色体显性多囊肾病(ADPKD),该基因编码多囊蛋白-1(PC-1)。PC-1 的细胞质 C 端含有一个卷曲螺旋结构域,介导与 PKD2 基因产物多囊蛋白-2(PC-2)的相互作用。在此,我们在 PC-1 C 端尾部发现了一个新的结构域,一个多脯氨酸基序,介导与Src 同源结构域 3(SH3)的相互作用。使用 PC-1 C 端尾部进行相互作用筛选,鉴定出肾病性胱氨酸病(NPHP)不同形式的突变基因产物 nephrocystin-1(NPHP1)是 PC-1 的潜在结合伴侣。NPHP1 是一个基因的产物,该基因在另一种肾囊性疾病肾单位肾痨(NPHP)中发生突变。我们表明,体外下拉实验和 NMR 结构研究证实了 PC-1 多脯氨酸基序与 NPHP1 SH3 结构域之间的相互作用。此外,这两种全长蛋白通过这些结构域相互作用;使用最近生成的允许我们追踪内源性 PC-1 的模型系统,我们证实了内源性蛋白之间的相互作用。最后,我们表明,NPHP1 向纤毛的运输不需要 PC-1,而 PC-1 可能需要 NPHP1 来调节对细胞凋亡的抗性,但不需要调节细胞周期进程。与此一致,我们在 NPHP 患者的肾标本中发现高水平的细胞凋亡。我们的数据揭示了两种不同纤毛病(ADPKD 和 NPHP)之间的联系,支持了这样一种观点,即常见的致病缺陷,可能涉及不受调节的细胞凋亡,是导致肾脏囊肿形成的原因。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9f9e/2939065/0dfcae749650/pone.0012719.g001.jpg

相似文献

2
3
A short carboxy-terminal domain of polycystin-1 reorganizes the microtubular network and the endoplasmic reticulum.
Exp Cell Res. 2009 Apr 15;315(7):1157-70. doi: 10.1016/j.yexcr.2009.01.027. Epub 2009 Feb 10.
4
The N-Terminal Domain of NPHP1 Folds into a Monomeric Left-Handed Antiparallel Three-Stranded Coiled Coil with Anti-apoptotic Function.
ACS Chem Biol. 2019 Aug 16;14(8):1845-1854. doi: 10.1021/acschembio.9b00582. Epub 2019 Aug 5.
6
Cyclin-Dependent Kinase 1 Activity Is a Driver of Cyst Growth in Polycystic Kidney Disease.
J Am Soc Nephrol. 2021 Jan;32(1):41-51. doi: 10.1681/ASN.2020040511. Epub 2020 Oct 12.
7
A polycystin-2 (TRPP2) dimerization domain essential for the function of heteromeric polycystin complexes.
EMBO J. 2010 Apr 7;29(7):1176-91. doi: 10.1038/emboj.2010.18. Epub 2010 Feb 18.
8
Receptor protein tyrosine phosphatases are novel components of a polycystin complex.
Biochim Biophys Acta. 2011 Oct;1812(10):1225-38. doi: 10.1016/j.bbadis.2010.11.006. Epub 2010 Nov 29.
9
Molecular advances in autosomal dominant polycystic kidney disease.
Adv Chronic Kidney Dis. 2010 Mar;17(2):118-30. doi: 10.1053/j.ackd.2010.01.002.
10
Carboxy terminal tail of polycystin-1 regulates localization of TSC2 to repress mTOR.
PLoS One. 2010 Feb 16;5(2):e9239. doi: 10.1371/journal.pone.0009239.

引用本文的文献

1
Metabolic reprogramming in polycystic kidney disease and other renal ciliopathies.
EMBO Mol Med. 2025 Apr 22. doi: 10.1038/s44321-025-00239-x.
2
Physiologic mechanisms underlying polycystic kidney disease.
Physiol Rev. 2025 Jul 1;105(3):1553-1607. doi: 10.1152/physrev.00018.2024. Epub 2025 Feb 12.
3
Identification of renal cyst cells of type I Nephronophthisis by single-nucleus RNA sequencing.
Front Cell Dev Biol. 2023 Jul 31;11:1192935. doi: 10.3389/fcell.2023.1192935. eCollection 2023.
5
A cut above (and below): Protein cleavage in the regulation of polycystin trafficking and signaling.
Cell Signal. 2020 Aug;72:109634. doi: 10.1016/j.cellsig.2020.109634. Epub 2020 Apr 10.
6
mutation may epistatically ameliorate nephronophthisis progression in patients with deletion.
Clin Case Rep. 2019 Jan 9;7(2):336-339. doi: 10.1002/ccr3.1947. eCollection 2019 Feb.
7
Loss of Tctn3 causes neuronal apoptosis and neural tube defects in mice.
Cell Death Dis. 2018 May 1;9(5):520. doi: 10.1038/s41419-018-0563-4.
8
dMM-PBSA: A New HADDOCK Scoring Function for Protein-Peptide Docking.
Front Mol Biosci. 2016 Aug 31;3:46. doi: 10.3389/fmolb.2016.00046. eCollection 2016.
9
Double inhibition of cAMP and mTOR signalling may potentiate the reduction of cell growth in ADPKD cells.
Clin Exp Nephrol. 2017 Apr;21(2):203-211. doi: 10.1007/s10157-016-1289-1. Epub 2016 Jun 9.
10
A polycystin-centric view of cyst formation and disease: the polycystins revisited.
Kidney Int. 2015 Oct;88(4):699-710. doi: 10.1038/ki.2015.207. Epub 2015 Jul 22.

本文引用的文献

1
Emerging evidence of a link between the polycystins and the mTOR pathways.
Pathogenetics. 2009 Oct 28;2(1):6. doi: 10.1186/1755-8417-2-6.
3
Nephrocystin-1 and nephrocystin-4 are required for epithelial morphogenesis and associate with PALS1/PATJ and Par6.
Hum Mol Genet. 2009 Dec 15;18(24):4711-23. doi: 10.1093/hmg/ddp434. Epub 2009 Sep 14.
5
Essential role of nephrocystin in photoreceptor intraflagellar transport in mouse.
Hum Mol Genet. 2009 May 1;18(9):1566-77. doi: 10.1093/hmg/ddp068. Epub 2009 Feb 9.
6
The SH3 domain--a family of versatile peptide- and protein-recognition module.
Front Biosci. 2008 May 1;13:4938-52. doi: 10.2741/3053.
7
Designing transient binding drugs: a new concept for drug discovery.
Drug Discov Today. 2008 May;13(9-10):433-9. doi: 10.1016/j.drudis.2008.02.001. Epub 2008 Mar 18.
8
Cyst formation and activation of the extracellular regulated kinase pathway after kidney specific inactivation of Pkd1.
Hum Mol Genet. 2008 Jun 1;17(11):1505-16. doi: 10.1093/hmg/ddn039. Epub 2008 Feb 7.
9
HADDOCK versus HADDOCK: new features and performance of HADDOCK2.0 on the CAPRI targets.
Proteins. 2007 Dec 1;69(4):726-33. doi: 10.1002/prot.21723.
10
Genetic interaction studies link autosomal dominant and recessive polycystic kidney disease in a common pathway.
Hum Mol Genet. 2007 Aug 15;16(16):1940-50. doi: 10.1093/hmg/ddm141. Epub 2007 Jun 16.

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验