Characteristics of ClC7 Cl- channels and their inhibition in mutant (G215R) associated with autosomal dominant osteopetrosis type II in native osteoclasts and hClcn7 gene-expressing cells

Pflugers Archiv European Journal of Physiology

Volumn 458, Issue 6, 2009, Pages 1049-1059

  Kajiya, Hiroshi ^a   Okamoto, Fujio ^a   Ohgi, Kimiko ^a   Nakao, Akihiro ^a   Fukushima, Hidefumi ^a   Okabe, Koji ^a  

^a FUKUOKA DENTAL COLLEGE   (Japan)

Author keywords

Autosomal dominant osteopetrosis type II; Bone resorption; Chloride channel 7; Osteoclasts

Indexed keywords

CHLORIDE CHANNEL; CLC7 CHLORIDE CHANNEL; UNCLASSIFIED DRUG;

ACIDIFICATION; ALBERS SCHOENBERG DISEASE; ANIMAL CELL; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHLORIDE CURRENT; CLCN7 GENE; CONTROLLED STUDY; EMBRYO; GENE; GENE EXPRESSION; GENE MUTATION; HUMAN; HUMAN CELL; MOUSE; NONHUMAN; OSTEOCLAST; OSTEOLYSIS; PRIORITY JOURNAL; WILD TYPE;

ANIMALS; BONE RESORPTION; CELL LINE; CELLS, CULTURED; CHLORIDE CHANNELS; CLONING, MOLECULAR; HUMANS; MICE; OSTEOCLASTS; OSTEOPETROSIS;

EID: 70349579056     PISSN: 00316768     EISSN: 14322013     Source Type: Journal    
DOI: 10.1007/s00424-009-0689-4     Document Type: Article

References (35)

1. C Auzanneau V Thoreau A Kitzis 2003 Becq FA novel voltage-dependent chloride current activated by extracellular acidic pH in cultured rat Sertoli cells J Biol Chem 278 19230 19236 12637509 10.1074/jbc.M301096200 1:CAS:528:DC%2BD3sXjvVSksb0%3D (Pubitemid 36799314)
2. O Benichou E Cleiren J Gram J Bollerslev MC de Vernejoul W Van Hul 2001 Mapping of autosomal dominant osteopetrosis type II (Albers-Schönberg disease) to chromosome 16p13.3 Am J Hum Genet 69 647 654 11468688 10.1086/323132 1:CAS:528:DC%2BD3MXmvV2rsrw%3D (Pubitemid 32777703)
3. HC Blair SL Teitelbaum R Ghiselli S Gluck 1989 Osteoclastic bone resorption by a polarized vacuolar proton pump Science 245 855 857 2528207 10.1126/science.2528207 1:CAS:528:DyaL1MXlslWlurY%3D
4. J Bollerslev 1989 Autosomal dominant osteopetrosis: bone metabolism and epidemiological, clinical, and hormonal aspects Endcr Rev 10 45 67 10.1210/edrv-10-1-45 1:STN:280:DyaL1MzisFajuw%3D%3D
5. S Brandt TJ Jentsch 1995 ClC-6 and ClC-7 are two novel broadly expressed members of the CLC chloride channel family FEBS Lett 377 15 20 8543009 10.1016/0014-5793(95)01298-2 1:CAS:528:DyaK2MXhtVSgtr7J (Pubitemid 26008977)
6. H Brockstedt J Bollerslev F Melsen L Mosekilde 1996 Cortical bone remodeling in autosomal dominant osteopetrosis: a study of two different phenotypes Bone 18 67 72 8717539 10.1016/8756-3282(95)00424-6 1:STN:280:DyaK28zlt1GgtQ%3D%3D (Pubitemid 26047535)
7. K Chu R Snyder MJ Econs 2006 Disease status in autosomal dominant osteopetrosis type 2 is determined by osteoclastic properties J Bone Miner Res 21 1089 1097 16813529 10.1359/jbmr.060409 1:CAS:528:DC%2BD28XntlWqu74%3D (Pubitemid 43962837)
8. E Cleiren O Benuchou E Van Hul J Gram J Bollerslev FR Singer K Beaverson A Aledo WP Whyte T Yoneyama MC deVernejoul W Van Hul 2001 Albers-Schönberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene Hum Mol Genet 10 2861 2867 11741829 10.1093/hmg/10.25.2861 1:CAS:528:DC%2BD38XjtVegtg%3D%3D
9. RJ Daniels JF Peden C Lloyd SW Horsley K Clark C Tufarelli L Kearney VJ Buckle NA Doggett J Flint DR Higgs 2001 Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16 Hum Mol Genet 10 339 352 11157797 10.1093/hmg/10.4.339 1:STN:280:DC%2BD3Mzit1eitg%3D%3D
10. L Diewald J Rupp M Dreger F Hucho C Gillen H Nawrath 2002 Activation by acidic pH of CLC-7 expressed in oocytes from Xenopus laevis Biochem Biophys Res Commun 291 421 424 11846422 10.1006/bbrc.2002.6462 1:CAS:528: DC%2BD38Xht1Ggtb8%3D (Pubitemid 34694422)
11. D Duan C Winter S Cowley JR Hume B Horowitz 1997 Molecular identification of a volume-regulated chloride channel Nature 390 417 421 9389484 10.1038/37151 1:CAS:528:DyaK2sXns12ru7g%3D (Pubitemid 28027325)
12. A Dutzler EB Campbell M Cadene BT Chait R MacKinnon 2002 X-ray structure of a ClC chloride channel at 3.0∈Å reveals the molecular basis of anion selectivity Nature 415 287 294 11796999 10.1038/415287a 1:CAS:528:DC%2BD38XptlWksA%3D%3D (Pubitemid 34087544)
13. M Forgac 1989 Structure and function of vacuolar class of ATP-driven proton pumps Physiol Rev 69 765 796 2526342 1:CAS:528:DyaL1MXlslWntLw%3D
14. A Frattini PJ Orchard C Sobacchi S Giliani M Abinum JP Mattsson DJ Keeling AK Andersson P Wallbrandt L Zecca LD Notarangelo P Vezzoni A Villa 2000 Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis Nat Genet 25 343 346 10888887 10.1038/77131 1:CAS:528:DC%2BD3cXkvFKktLo%3D (Pubitemid 30437326)
15. + antiporter ClC-7 is the primary chloride permeation pathway in lysosomes Nature 453 788 792 18449189 10.1038/nature06907 1:CAS:528: DC%2BD1cXmvVGmsL0%3D (Pubitemid 351793780)
16. K Henriksen J Gram S Schaller BH Dahl MH Dziegiel J Bollerslev MA Karsdal 2004 Characterization of osteoclasts from patients harboring a G215R mutation in ClC-7 causing autosomal dominant osteopetrosis typeII Am J Pathol 164 1537 1545 15111300 1:CAS:528:DC%2BD2cXns1Gqtbg%3D
17. H Kajiya F Okamoto JP Li A Nakao K Okabe 2006 Expression of mouse osteoclast K-Cl co-transporter-1 and its role during bone resorption J Bone Miner Res 21 984 992 16813519 10.1359/jbmr.060407 1:CAS:528:DC%2BD28XntlWqtb8%3D (Pubitemid 43962827)
18. D Kasper R Planells-Cases JC Fuhrmann O Scheel O Zeitz R Klaus A Schmitt M Poet R Steinfeld M Schweizer U Kornak TJ Jentsch 2005 Loss of the chloride channel ClC-7 leads to lysosomal storage disease and neurodegeneration EMBO J 24 1079 1091 15706348 10.1038/sj.emboj.7600576 1:CAS:528:DC%2BD2MXitV2isbk%3D (Pubitemid 40470155)
19. ME Kelly SJ Dixon SM Sims 1994 Outwardly rectifying chloride current in rabbit osteoclasts is activated by hyposmotic stimulation J Physiol 475 377 389 8006823 1:CAS:528:DyaK2cXivFGjsbs%3D
20. U Kornak D Kasper MR Bosl E Kaiser M Schweizer A Schulz W Friendrich G Delling TJ Jentsch 2001 Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man Cell 104 205 215 11207362 10.1016/S0092-8674(01) 00206-9 1:CAS:528:DC%2BD3MXis1Kmu7s%3D (Pubitemid 32174837)
21. U Kornak A Schulz W Friedrich S Uhlhaas B Kremens T Voit C Hasan U Bode TJ Jentsch C Kubisch 2000 Mutations in the a3 subunit of the vacuolar H(+)-ATPase cause infantile malignant osteopetrosis Hum Mol Genet 9 2059 2063 10942435 10.1093/hmg/9.13.2059 1:CAS:528:DC%2BD3cXmtVems7s%3D
22. PF Lange L Wartosch TJ Jentsch JC Fuhrmann 2006 ClC-7 requires Ostm1 as a β-subunit to support bone resorption and lysosomal function Nature 440 220 223 16525474 10.1038/nature04535 1:CAS:528:DC%2BD28XitFGitLY%3D (Pubitemid 43372100)
23. U Ludewig M Pusch TJ Jentsch 1996 Two physically distinct pores in the dimeric ClC-0 chloride channel Nature 383 340 343 8848047 10.1038/383340a0 1:CAS:528:DyaK28XlvFaitr8%3D (Pubitemid 26321764)
24. - channels via a cAMP-dependent pathway and reduces cell motility in rat osteoclasts Am J Physiol Cell Physiol 287 C114 C124 15044156 10.1152/ajpcell.00551.2003 1:CAS:528:DC%2BD2cXlvFOht7g%3D (Pubitemid 38780159)
25. A Picollo 2005 Pusch M (2005) chloride/proton antiporter activity of mammalian CLC proteins ClC-4 and ClC-5 Nature 436 420 423 16034421 10.1038/nature03720 1:CAS:528:DC%2BD2MXmtlSjtLg%3D (Pubitemid 41059054)
26. SV Reddy RD Devlin C Menna R Nishumura SJ Choi T Yoneda GD Roodman 1998 Isolation and characterization of a cDNA clone encoding a novel peptide (OSF) that enhances osteoclast formation and bone resorption J Cell Physiol 177 636 645 10092216 10.1002/(SICI)1097-4652(199812)177:4<636::AID-JCP14>3.0.CO;2- H 1:CAS:528:DyaK1cXnvV2qsbw%3D
27. S Schaller K Henriksen C Sveigaard AM Heegaard N Helix M Stahlhut MC Ovejero JV Johansen H Solberg TL Andersen D Hougaard M Berryman CB Shidt BH Sirensen J Lichtenberg P Christophersen NT Foged JM Delaisse MT Engsig MA Karsdal 2004 The chloride channel inhibitor NS3736 prevents bone resorption in ovariectomized rats without changing bone formation J Bone Miner Res 19 1144 1153 15176998 10.1359/JBMR.040302 1:CAS:528:DC%2BD2cXlvFWrt74%3D (Pubitemid 41110567)
28. T Schmidt-Rose TJ Jentsch 1997 Transmembrane topology of a CLC chloride channel Proc Natl Acad Sci U S A 94 7633 7638 9207144 10.1073/pnas.94.14.7633 1:CAS:528:DyaK2sXksFymtrc%3D (Pubitemid 27345368)
29. I Semba T Ishigami K Sugihara M Kitano 2000 Higher osteoclastic demineralization and highly mineralized cement lines with osteocalcin deposition in a mandibular cortical bone of autosomal dominant osteopetrosis type II: ultrastructural and undecalcified histological investigations Bone 27 389 395 10962350 10.1016/S8756-3282(00)00330-6 1:STN:280:DC%2BD3cvpt1WhsA%3D%3D (Pubitemid 30658122)
30. IA Silver RJ Murrills DJ Etherington 1988 Microelectrode studies on the acid microenvironment beneath adherent macrophages and osteoclasts Exp Cell Res 175 266 276 3360056 10.1016/0014-4827(88)90191-7 1:CAS:528:DyaL1cXitF2ru7o%3D
31. N Takahashi H Yamada S Yoshiki GD Roodman GR Mundy SJ Jones A Boyde T Suda 1988 Osteoclasts-like cell formation and its regulation by osteotropic hormones in mouse bone marrow cultures Endocrinology 122 1373 1382 3345718 10.1210/endo-122-4-1373 1:CAS:528:DyaL1cXhvVSqs74%3D
32. K Tezuka T Sato H Kamioka PJ Nijiweide K Tanaka T Matsuo M Ohta N Kirihara Y Hakeda M Kumegawa 1992 Identification of osteopontin in isolated rabbit osteoclasts Biochem Biophys Res Commun 186 911 917 1379809 10.1016/0006-291X(92)90832-6 1:CAS:528:DyaK3sXisFWrurY%3D
33. SG Waguespack SL Hui KE White KA Buckwalter MJ Econs 2002 Measurement of tartrate-resistant acid phosphatase and the brain isoenzyme of creatine kinase accurately diagnoses type II autosomal dominant osteopetrosis but does not identify gene carriers J Clin Endocrinol Metab 87 2212 2217 11994366 10.1210/jc.87.5.2212 1:CAS:528:DC%2BD38XjsFGhurs%3D (Pubitemid 34521511)
34. GX Wang WJ Hatton GL Wang J Zhong I Yamboliev D Duan JR Hume 2003 Functional effects of novel anti-ClC-3 antibodies on native volume-sensitive osmolyte and anion channels in cardiac and smooth muscle cells Am J Physiol Heart Circ Physiol 285 H1453 H1463 12816749 1:CAS:528:DC%2BD3sXosVKjtrs%3D
35. S Yamamoto T Ehara 2006 Acidic extracellular pH-activated outwardly rectifying chloride current in mammalian myocytes Am J Physiol Heart Circ Physiol 290 H1905 H1914 16339831 10.1152/ajpheart.00965.2005 1:CAS:528:DC%2BD28XkvFSmsb0%3D