KANK deficiency leads to podocyte dysfunction and nephrotic syndrome

Journal of Clinical Investigation

Volumn 125, Issue 6, 2015, Pages 2375-2384

  Gee, Heon Yung ^a   Zhang, Fujian ^b,c   Ashraf, Shazia ^a   Kohl, Stefan ^a   Sadowski, Carolin E ^a   Vega Warner, Virginia ^d   Zhou, Weibin ^d   Lovric, Svjetlana ^a   Fang, Humphrey ^a   Nettleton, Margaret ^b   Zhu, Jun Yi ^b   Hoefele, Julia ^e   Weber, Lutz T ^f   Podracka, Ludmila ^g   Boor, Andrej ^h   Fehrenbach, Henry ⁱ   Innis, Jeffrey W ^d,j   Washburn, Joseph ^d   Levy, Shawn ^k   Lifton, Richard P ^l,m   Otto, Edgar A ^d   Han, Zhe ^b   Hildebrandt, Friedhelm ^a,m   more..

^a HARVARD MEDICAL SCHOOL   (United States)

^b CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

^c SOUTHERN MEDICAL UNIVERSITY   (China)

^d UNIVERSITY OF MICHIGAN   (United States)

^e Center for Human Genetics and Laboratory Medicine   (Germany)

^f UNIVERSITY HOSPITAL OF COLOGNE   (Germany)

^g University Children's Hospital Bratislava   (Slovakia)

^h Med Faculty of Safarik University   (Slovakia)

ⁱ Klinikum Memmingen   (Germany)

^j UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^k HUDSONALPHA INSTITUTE FOR BIOTECHNOLOGY   (United States)

^l YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^m BOSTON CHILDREN S HOSPITAL   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ANKYRIN; KIDNEY ANKYRIN REPEAT CONTAINING PROTEIN 1; KIDNEY ANKYRIN REPEAT CONTAINING PROTEIN 2; KIDNEY ANKYRIN REPEAT CONTAINING PROTEIN 4; RHO GUANINE NUCLEOTIDE BINDING PROTEIN; SYNAPTOPODIN; UNCLASSIFIED DRUG; VITAMIN D BINDING PROTEIN; ACTIN BINDING PROTEIN; DROSOPHILA PROTEIN; KANK1 PROTEIN, HUMAN; SYNPO PROTEIN, HUMAN; SYNPO PROTEIN, RAT; TUMOR SUPPRESSOR PROTEIN; ZEBRAFISH PROTEIN;

ADULT; ANIMAL CELL; ARTICLE; BASEMENT MEMBRANE; BINDING AFFINITY; CELL CULTURE; CELL FUNCTION; CELL MEMBRANE; CELL MIGRATION; CELL VACUOLE; CELLULAR DISTRIBUTION; CHROMOSOME 19; CONTROLLED STUDY; DROSOPHILA MELANOGASTER; ENZYME LINKED IMMUNOSORBENT ASSAY; EXON; FOCAL GLOMERULOSCLEROSIS; GENE FREQUENCY; GENE SILENCING; GLOMERULUS BASEMENT MEMBRANE; HOMOZYGOSITY; HUMAN; HUMAN CELL; KIDNEY ANKYRIN REPEAT CONTAINING PROTEIN DEFICIENCY; KIDNEY DYSFUNCTION; LYSOSOME; MISSENSE MUTATION; MULTIPLEX POLYMERASE CHAIN REACTION; NEPHROTIC SYNDROME; NEXT GENERATION SEQUENCING; NONHUMAN; PATHOGENESIS; PHENOTYPE; PODOCYTE; PODOCYTE DYSFUNCTION; PRIORITY JOURNAL; PROTEIN DEFICIENCY; PROTEIN FUNCTION; PROTEIN LOCALIZATION; PROTEIN PROTEIN INTERACTION; PROTEIN TRANSPORT; PROTEINURIA; RAT; TRANSMISSION ELECTRON MICROSCOPY; ZEBRA FISH; ANIMAL; CELL LINE; DEFICIENCY; FEMALE; GENETICS; MALE; METABOLISM; MUTATION; PATHOLOGY;

ANIMALS; CELL LINE; DROSOPHILA MELANOGASTER; DROSOPHILA PROTEINS; FEMALE; GENE KNOCKDOWN TECHNIQUES; HUMANS; MALE; MICROFILAMENT PROTEINS; MUTATION; NEPHROTIC SYNDROME; PODOCYTES; PROTEINURIA; RATS; TUMOR SUPPRESSOR PROTEINS; ZEBRAFISH; ZEBRAFISH PROTEINS;

EID: 84930404195     PISSN: 00219738     EISSN: 15588238     Source Type: Journal    
DOI: 10.1172/JCI79504     Document Type: Article

References (34)

1. Gee HY, et al. ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling. J Clin Invest. 2013;123(8): 3243-3253.
2. Smith JM, Stablein DM, Munoz R, Hebert D, McDonald RA. Contributions of the Transplant Registry: The 2006 Annual Report of the North American Pediatric Renal Trials and Collaborative Studies (NAPRTCS). Pediatr Transplant. 2007;11(4): 366-373.
3. Sadowski CE, et al. A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome [published online ahead of print October 27, 2014]. J Am Soc Nephrol. doi: 10.1681/ ASN.2014050489.
4. Weavers H, et al. The insect nephrocyte is a podocyte-like cell with a filtration slit diaphragm. Nature. 2009;457(7227): 322-326.
5. Zhang F, Zhao Y, Han Z. An in vivo functional analysis system for renal gene discovery in Drosophila pericardial nephrocytes. J Am Soc Nephrol. 2013;24(2): 191-197.
6. Zhuang S, Shao H, Guo F, Trimble R, Pearce E, Abmayr SM. Sns and Kirre, the Drosophila orthologs of Nephrin and Neph1, direct adhesion, fusion and formation of a slit diaphragm-like structure in insect nephrocytes. Development. 2009;136(14): 2335-2344.
7. Ashraf S, et al. ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. J Clin Invest. 2013;123(12): 5179-5189.
8. Zhu Y, Kakinuma N, Wang Y, Kiyama R. Kank proteins: A new family of ankyrin-repeat domaincontaining proteins. Biochim Biophys Acta. 2008;1780(2): 128-133.
9. Gee HY, et al. Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies. Kidney Int. 2014;85(4): 880-887.
10. Halbritter J, et al. High-throughput mutation analysis in patients with a nephronophthisis- Associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing. J Med Genet. 2012;49(12): 756-767.
11. Asanuma K, et al. Synaptopodin regulates the actin-bundling activity of alpha-Actinin in an isoform-specific manner. J Clin Invest. 2005;115(5): 1188-1198.
12. Xu X, et al. Expression of novel podocyte-Associated proteins sult1b1 and ankrd25. Nephron Exp Nephrol. 2011;117(2): E39-e46.
13. Wang Y, Kakinuma N, Zhu Y, Kiyama R. Nucleocytoplasmic shuttling of human Kank protein accompanies intracellular translocation of β-catenin. J Cell Sci. 2006;119(pt 19): 4002-4010.
14. Robu ME, et al. p53 activation by knockdown technologies. PLoS Genet. 2007;3(5): E78.
15. Zhou W, Hildebrandt F. Inducible podocyte injury and proteinuria in transgenic zebrafish. J Am Soc Nephrol. 2012;23(6): 1039-1047.
16. Hinkes B, et al. Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible. Nat Genet. 2006;38(12): 1397-1405.
17. Kakinuma N, Roy BC, Zhu Y, Wang Y, Kiyama R. Kank regulates RhoA-dependent formation of actin stress fibers and cell migration via 14-3-3 in PI3KAkt signaling. J Cell Biol. 2008;181(3): 537-549.
18. Roy BC, Kakinuma N, Kiyama R. Kank attenuates actin remodeling by preventing interaction between IRSp53 and Rac1. J Cell Biol. 2009;184(2): 253-267.
19. Sarkar S, Roy BC, Hatano N, Aoyagi T, Gohji K, Kiyama R. A novel ankyrin repeat-containing gene (Kank) located at 9p24 is a growth suppressor of renal cell carcinoma. J Biol Chem. 2002;277(39): 36585-36591.
20. Gee HY, et al. Mutations in EMP2 cause childhood- onset nephrotic syndrome. Am J Hum Genet. 2014;94(6): 884-890.
21. Gbadegesin RA, et al. Mutations in the gene that encodes the F-Actin binding protein anillin cause FSGS. J Am Soc Nephrol. 2014;25(9): 1991-2002.
22. Ramot Y, et al. Mutation in KANK2, encoding a sequestering protein for steroid receptor coactivators, causes keratoderma and woolly hair. J Med Genet. 2014;51(6): 388-394.
23. Heasman SJ, Ridley AJ. Mammalian Rho GTPases: New insights into their functions from in vivo studies. Nat Rev Mol Cell Biol. 2008;9(9): 690-701.
24. Garcia-Mata R, Boulter E, Burridge K. The 'invisible hand': Regulation of RHO GTPases by RHOGDIs. Nat Rev Mol Cell Biol. 2011;12(8): 493-504.
25. Zhu L, Jiang R, Aoudjit L, Jones N, Takano T. Activation of RhoA in podocytes induces focal segmental glomerulosclerosis. J Am Soc Nephrol. 2011;22(9): 1621-1630.
26. Wang L, et al. Mechanisms of the proteinuria induced by Rho GTPases. Kidney Int. 2012;81(11): 1075-1085.
27. Scott RP, et al. Podocyte-specific loss of cdc42 leads to congenital nephropathy. J Am Soc Nephrol. 2012;23(7): 1149-1154.
28. Blattner SM, et al. Divergent functions of the Rho GTPases Rac1 and Cdc42 in podocyte injury. Kidney Int. 2013;84(5): 920-930.
29. Yu H, et al. Rac1 activation in podocytes induces rapid foot process effacement and proteinuria. Mol Cell Biol. 2013;33(23): 4755-4764.
30. Akilesh S, et al. Arhgap24 inactivates Rac1 in mouse podocytes, and a mutant form is associated with familial focal segmental glomerulosclerosis. J Clin Invest. 2011;121(10): 4127-4137.
31. [No authors listed]. Primary nephrotic syndrome in children: Clinical significance of histopathologic variants of minimal change of diffuse mesangial hypercellularity: A Report of the International Study of Kidney Disease in Children. Kidney Int. 1981;20(6): 765-771.
32. Zhang F, Zhao Y, Chao Y, Muir K, Han Z. Cubilin and amnionless mediate protein reabsorption in Drosophila nephrocytes. J Am Soc Nephrol. 2013;24(2): 209-216.
33. Saleem MA, et al. A conditionally immortalized human podocyte cell line demonstrating nephrin and podocin expression. J Am Soc Nephrol. 2002;13(3): 630-638.
34. Kwan K, et al. The Tol2kit: A multisite gateway- based construction kit for Tol2 transposon transgenesis constructs. Dev Dyn. 2007;236(11): 3088-3099.