A gating mutation at the internal mouth of the Kir6.2 pore is associated with DEND syndrome

EMBO Reports

Volumn 6, Issue 5, 2005, Pages 470-475

  Proks, Peter ^a   Girard, Christophe ^a   Haider, Shozeb ^a   Gloyn, Anna L ^b,c   Hattersley, Andrew T ^b   Sansom, Mark S P ^a   Ashcroft, Frances M ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b PENINSULA MEDICAL SCHOOL   (United Kingdom)

^c CHURCHILL HOSPITAL   (United Kingdom)

Author keywords

ATP block; ATP sensitive K+ channel; Gating; Kir6.2; Neonatal diabetes; Sulphonylurea

Indexed keywords

ADENOSINE TRIPHOSPHATE; INWARDLY RECTIFYING POTASSIUM CHANNEL SUBUNIT KIR6.2;

ALLOSTERISM; ARTICLE; CHANNEL GATING; CONTROLLED STUDY; CORRELATION FUNCTION; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; EPILEPSY; GENE EXPRESSION; GENE MUTATION; HETEROZYGOSITY; MOLECULAR MODEL; MUSCLE WEAKNESS; MUTANT; NONHUMAN; NUCLEOTIDE SEQUENCE; OOCYTE; POTASSIUM CURRENT; PRIORITY JOURNAL; SIGNAL TRANSDUCTION; WILD TYPE; XENOPUS LAEVIS;

ADENOSINE TRIPHOSPHATE; ALLOSTERIC REGULATION; ANIMALS; DEVELOPMENTAL DISABILITIES; DIABETES MELLITUS; EPILEPSY; FEMALE; HUMANS; INFANT, NEWBORN; ION CHANNEL GATING; MODELS, MOLECULAR; MUSCLE WEAKNESS; MUTATION; OOCYTES; PATCH-CLAMP TECHNIQUES; POTASSIUM CHANNELS, INWARDLY RECTIFYING; SYNDROME; XENOPUS LAEVIS;

EID: 20044389281     PISSN: 1469221X     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.embor.7400393     Document Type: Article

References (29)

1. ATP channel Kir6.2 subunit. EMBO J 24: 229-239
2. + channels. Trends Neurosci 21: 288-294
3. Ashcroft FM, Harrison DE, Ashcroft SJH (1984) Glucose induces closure of single potassium channels in isolated rat pancreatic β-cells. Nature 312: 446-448
4. Ashcroft FM, Rorsman P (2004) Type-2 diabetes mellitus: not quite exciting enough? Hum Mol Genet 13: R21-R31
5. ATP channel. Biophys J 80: 719-728
6. + channel. A molecular probe for the mechanism of ATP-sensitive inhibition. J Gen Physiol 114: 251-269
7. Gloyn AL et al (2004) Activating mutations in the ATP-sensitive potassium channel subunit Kir6.2 gene are associated with permanent neonatal diabetes. N Engl J Med 350: 1838-1849
8. Goodsell DS, Morris GM, Olsen AJ (1996) Automated docking of flexible ligands: applications of AutoDock. J Mol Recog 9: 1-5
9. Gribble FM, Loussouarn G, Tucker SJ, Zhao C, Nichols CG, Ashcroft FM (2000) A novel method for measurement of sub-membrane ATP concentration. J Biol Chem 275: 30046-30049
10. Gribble FM, Tucker SJ, Ashcroft FM (1997) The essential role of the Walker A motifs of SUR1 in K-ATP channel activation by MgADP and diazoxide. EMBO J 16: 1145-1152
11. ATP channel by interaction with its SUR1 subunit. Proc Natl Acad Sci USA 95: 7185-7190
12. Humphrey W, Dalke A, Shulten K (1996) VMD - visual molecular dynamics. J Mol Graph 14: 33-38
13. Jeanmougin F, Thompson JD, Gouy M, Higgins DG, Gibson TJ (1998) Multiple sequence alignment with Clustal x. Trends Biol Sci 23: 403-405
14. + channel openers, and ATP. Mol Pharmacol 59: 1086-1093
15. Kuo A, Gulbis JM, Antcliff JF, Rahman T, Lowe ED, Zimmer J, Cuthbertson J, Ashcroft FM, Ezaki T, Doyle DA (2003) Crystal structure of the potassium channel KirBac1.1 in the closed state. Science 300: 1922-1926
16. Laskowski RA, Macarthur MW, Moss DS, Thornton JMJ (1993) Procheck - a program to check the stereochemical quality of protein structures. J Appl Crystallogr 26: 283-291
17. 4- mediates closure of pancreatic β-cell ATP-sensitive potassium channels by interaction with 1 of 4 identical sites. Diabetes 49: 1413-1418
18. Nichols CG, Shyng SL, Nestorowicz A, Glaser B, Clement IV JP, Gonzalez G, Aguilar-Bryan L, Permutt MA, Bryan J (1996) Adenosine diphosphate as an intracellular regulator of insulin secretion. Science 272: 1785-1787
19. Nishida M, MacKinnon R (2002) Structural basis of inward rectification: cytoplasmic pore of the G protein-gated inward rectifier GIRK1 at 1.8 Å resolution. Cell 111: 957-996
20. Pegan S, Arrabit C, Zhou W, Kwiatkowski W, Collins A, Slesinger PA, Choe S (2005) Cytoplasmic domain structures of Kir2.1 and Kir3.1 show sites for modulating gating and rectification. Nat Neurosci 8: 279-287
21. Proks P, Antcliff JF, Lippiat J, Gloyn A, Hattersely A, Ashcroft FM (2004) Molecular basis of Kir6.2 mutations associated with neonatal diabetes or neonatal diabetes plus neurological features. Proc Natl Acad Sci USA 101: 17539-17544
22. Sagen JV et al (2004) Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy. Diabetes 53: 2713-2718
23. Sali A, Blundell T (1993) Comparative protein modelling by satisfaction of spatial restraints. J Mol Biol 234: 779-815
24. + channels. Prog Biophys Mol Biol 81: 133-176
25. ATP channel complex. J Gen Physiol 110: 655-664
26. ATP channels. Science 282: 1138-1141
27. Trapp S, Haider S, Jones P, Sansom MSP, Ashcroft FMA (2003) Identification of residues contributing to the ATP binding site of Kir6.2. EMBO J 22: 2903-2912
28. ATP channel gating and implications for channel inhibition by ATP. J Gen Physiol 112: 333-349
29. Tucker SJ, Gribble FM, Zhao C, Trapp S, Ashcroft FM (1997) Truncation of Kir6.2 produces ATP-sensitive K-channels in the absence of the sulphonylurea receptor. Nature 387: 179-183