Kir6.2 mutations causing neonatal diabetes prevent endocytosis of ATP-sensitive potassium channels

EMBO Journal

Volumn 25, Issue 17, 2006, Pages 4142-4151

  Mankouri, Jamel ^a   Taneja, Tarvinder K ^a   Smith, Andrew J ^a   Ponnambalam, Sreenivasan ^a   Sivaprasadarao, Asipu ^a  

^a UNIVERSITY OF LEEDS   (United Kingdom)

Author keywords

Endocytosis; KATP channel; Kir6.2; Neonatal diabetes; PNDM

Indexed keywords

ADENOSINE TRIPHOSPHATE SENSITIVE POTASSIUM CHANNEL; CLATHRIN; INSULIN; INWARDLY RECTIFYING POTASSIUM CHANNEL SUBUNIT KIR6.2; SULFONYLUREA DERIVATIVE;

AMINO ACID SEQUENCE; ARTICLE; CARBOXY TERMINAL SEQUENCE; CELL MEMBRANE; CELL TRANSPORT; COATED VESICLE; CONTROLLED STUDY; DIABETES MELLITUS; ENDOCYTOSIS; GENE MUTATION; HUMAN; HUMAN CELL; HYPERPOLARIZATION; INSULIN RELEASE; PRIORITY JOURNAL;

ANIMALS; ATP-BINDING CASSETTE TRANSPORTERS; CELL LINE; CLATHRIN; CRICETINAE; DIABETES MELLITUS; ENDOCYTOSIS; HUMANS; INFANT, NEWBORN; MICE; MUTATION; POTASSIUM CHANNELS; POTASSIUM CHANNELS, INWARDLY RECTIFYING; RECEPTORS, DRUG; TYROSINE;

EID: 33748376658     PISSN: 02614189     EISSN: 14602075     Source Type: Journal    
DOI: 10.1038/sj.emboj.7601275     Document Type: Article

References (38)

1. Ashcroft FM (2005) ATP-sensitive potassium channelopathies: focus on insulin secretion. J Clin Invest 115: 2047-2058
2. Bonifacino JS, Traub LM (2003) Signals for sorting of transmembrane proteins to endosomes and lysosomes. Annu Rev Biochem 72: 395-447
3. ATP channels caused by a sulfonylurea receptor 1 mutation associated with persistent hyperinsulinemic hypoglycemia of infancy. Proc Natl Acad Sci USA 98: 2882-2887
4. Chen WJ, Goldstein JL, Brown MS (1990) NPXY, a sequence often found in cytoplasmic tails, is required for coated pit-mediated internalization of the low density lipoprotein receptor. J Biol Chem 265: 3116-3123
5. ATP channel subunits. Neuron 18: 827-838
6. Cobbold C, Monaco AP, Sivaprasadarao A, Ponnambalam S (2003) Aberrant trafficking of transmembrane proteins in human disease. Trends Cell Biol 13: 639-647
7. Conner SD, Schmid SL (2003) Regulated portals of entry into the cell. Nature 422: 37-44
8. Dunne MJ, Cosgrove KE, Shepherd RM, Aynsley-Green A, Lindley KJ (2004) Hyperinsulinism in infancy: from basic science to clinical disease. Physiol Rev 84: 239-275
9. Ghosh P, Kornfeld S (2004) The GGA proteins: key players in protein sorting at the trans-Golgi network. Eur J Cell Biol 83: 257-262
10. Gloyn AL, Pearson ER, Antcliff JF, Proks P, Bruining GJ, Slingerland AS, Howard N, Srinivasan S, Silva JM, Molnes J, Edghill EL, Frayling TM, Temple IK, Mackay D, Shield JP, Sumnik Z, van Rhijn A, Wales JK, Clark P, Gorman S, Aisenberg J, Ellard S, Njolstad PR, Ashcroft FM, Hattersley AT (2004) Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes. N Engl J Med 350: 1838-1849
11. Gough NR, Zweifel ME, Martinez-Augustin O, Aguilar RC, Bonifacino JS, Fambrough DM (1999) Utilization of the indirect lysosome targeting pathway by lysosome-associated membrane proteins (LAMPs) is influenced largely by the C-terminal residue of their GYXXphi targeting signals. J Cell Sci 112: 4257-4269
12. Graeve L, Drickamer K, Rodriguez-Boulan E (1989) Polarized endocytosis by Madin-Darby canine kidney cells transfected with functional chicken liver glycoprotein receptor. J Cell Biol 109: 2809-2816
13. ATP channel by interaction with its SUR1 subunit. Proc Natl Acad Sci USA 95: 7185-7190
14. Haider S, Antcliff JF, Proks P, Sansom MS, Ashcroft FM (2005) Focus on Kir6.2: a key component of the ATP-sensitive potassium channel. J Mol Cell Cardiol 38: 927-936
15. He X, Li F, Chang WP, Tang J (2005) GGA proteins mediate the recycling pathway of memapsin 2 (BACE). J Biol Chem 280: 11696-11703
16. Hu K, Huang CS, Jan YN, Jan LY (2003) ATP-sensitive potassium channel traffic regulation by adenosine and protein kinase C. Neuron 38: 417-432
17. Hughes SJ, Faehling M, Thorneley CW, Proks P, Ashcroft FM, Smith PA (1998) Electrophysiological and metabolic characterization of single beta-cells and islets from diabetic GK rats. Diabetes 47: 73-81
18. ATP channels and insulin secretion disorders. Am J Physiol Endocrinol Metab 283: 207-216
19. ATP: an inward rectifier subunit plus the sulfonylurea receptor. Science 270: 1166-1170
20. ATP channels induces profound neonatal diabetes. Cell 100: 645-654
21. Matsuo M, Trapp S, Tanizawa Y, Kioka N, Amachi T, Oka Y, Ashcroft FM, Ueda K (2000) Functional analysis of a mutant sulfonylurea receptor, SUR1-R1420C, that is responsible for persistent hyperinsulinemic hypoglycemia of infancy. J Biol Chem 275: 41184-41191
22. ATP channel. Proc Natl Acad Sci USA 94: 11969-11973
23. Nesterov A, Carter RE, Sorkina T, Gill GN, Sorkin A (1999) Inhibition of the receptor-binding function of clathrin adaptor protein AP-2 by dominant-negative mutant mu2 subunit and its effects on endocytosis. EMBO J 18: 2489-2499
24. Partridge CJ, Beech DJ, Sivaprasadarao A (2001) Identification and pharmacological correction of a membrane trafficking defect associated with a mutation in the sulfonylurea receptor causing familial hyperinsulinism. J Biol Chem 276: 35947-35952
25. Proks P, Girard C, Ashcroft FM (2005) Functional effects of KCNJ11 mutations causing neonatal diabetes: enhanced activation by MgATP. Hum Mol Genet 14: 2717-2726
26. Sagen JV, Raeder H, Hathout E, Shehadeh N, Gudmundsson K, Baevre H, Abuelo D, Phornphutkul C, Molnes J, Bell GI, Gloyn AL, Hattersley AT, Molven A, Sovik O, Njolstad PR (2004) Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy. Diabetes 53: 2713-2718
27. + channels. Prog Biophys Mol Biol 81: 133-176
28. Sekine N, Fasolato C, Pralong WF, Theler JM, Wollheim CB (1997) Glucose-induced insulin secretion in INS-1 cells depends on factors present in fetal calf serum and rat islet-conditioned medium. Diabetes 46: 1424-1433
29. ATP channels. J Biol Chem 274: 20628-20632
30. ATP channel complex. J Gen Physiol 110: 655-664
31. Shyng SL, Ferrigni T, Shepard JB, Nestorowicz A, Glaser B, Permutt MA, Nichols CG (1998) Functional analyses of novel mutations in the sulfonylurea receptor 1 associated with persistent hyperinsulinemic hypoglycemia of infancy. Diabetes 47: 1145-1151
32. Tammaro P, Girard C, Molnes J, Njolstad PR, Ashcroft FM (2005) Kir6.2 mutations causing neonatal diabetes provide new insights into Kir6.2-SUR1 interactions. EMBO J 24: 2318-2330
33. Tikkanen R, Obermuller S, Denzer K, Pungitore R, Geuze HJ, von Figura K, Honing S (2000) The dileucine motif within the tail of MPR46 is required for sorting of the receptor in endosomes. Traffic 1: 631-640
34. Vaxillaire M, Populaire C, Busiah K, Cave H, Gloyn AL, Hattersley AT, Czernichow P, Froguel P, Polak M (2004) Kir6.2 mutations are a common cause of permanent neonatal diabetes in a large cohort of French patients. Diabetes 53: 2719-2722
35. + channel. J Physiol 499: 715-720
36. Yorifuji T, Nagashima K, Kurokawa K, Kawai M, Oishi M, Akazawa Y, Hosokawa M, Yamada Y, Inagaki N, Nakahata T (2005) The C42R mutation in the Kir6.2 (KCNJ11) gene as a cause of transient neonatal diabetes, childhood diabetes, or later-onset, apparently type 2 diabetes mellitus. J Clin Endocrinol Metab 90: 3174-3178
37. ATP channels. Neuron 22: 537-548
38. Zhu SJ, Hatcher LI, Brown III JC, Whittle SM, Toews ML (1996) Effects of hypertonic sucrose and potassium depletion on the binding properties of beta and alpha 1 adrenergic receptors measured on intact cells. Recept Signal Transduction 6: 131-140