Generation of the first autosomal dominant osteopetrosis type II (ADO2) disease models

Bone

Volumn 59, Issue , 2014, Pages 66-75

  Alam, Imranul ^a   Gray, Amie K ^a   Chu, Kang ^a   Ichikawa, Shoji ^a   Mohammad, Khalid S ^a   Capannolo, Marta ^b   Capulli, Mattia ^b   Maurizi, Antonio ^b   Muraca, Maurizio ^c   Teti, Anna ^b   Econs, Michael J ^a   Del Fattore, Andrea ^c  

^a INDIANA UNIVERSITY   (United States)

^b UNIVERSITY OF L'AQUILA   (Italy)

^c BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

Author keywords

Autosomal dominant osteopetrosis; Chloride channel 7; Mouse model; Osteoclast; Osteopetrosis

Indexed keywords

CHLORIDE CHANNEL; CHLORIDE CHANNEL 7; UNCLASSIFIED DRUG;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; AUTOSOMAL DOMINANT OSTEOPETROSIS TYPE II; BONE MASS; CLCN7 GENE; CONGENITAL BONE DISEASE; CONTROLLED STUDY; DISEASE MODEL; FEMALE; GENE; GENE MUTATION; GENE TARGETING; HETEROZYGOSITY; HETEROZYGOUS MUTATION; HOMOZYGOSITY; MALE; MISSENSE MUTATION; MODIFIER GENE; MOUSE; NONHUMAN; OSTEOCLAST; PENETRANCE;

AUTOSOMAL DOMINANT OSTEOPETROSIS; CHLORIDE CHANNEL 7; MOUSE MODEL; OSTEOCLAST; OSTEOPETROSIS;

ANIMALS; BASE SEQUENCE; BIOLOGICAL MARKERS; BONE AND BONES; BONE DENSITY; CELLS, CULTURED; CHLORIDE CHANNELS; DISEASE MODELS, ANIMAL; FEMALE; GENE KNOCK-IN TECHNIQUES; GENES, DOMINANT; HETEROZYGOTE; HOMOZYGOTE; MALE; MICE; MICE, INBRED C57BL; MOLECULAR SEQUENCE DATA; NEURONS; OSTEOCLASTS; OSTEOPETROSIS; PHENOTYPE; X-RAY MICROTOMOGRAPHY;

EID: 84888059452     PISSN: 87563282     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bone.2013.10.021     Document Type: Article

References (26)

1. Bollerslev J. Osteopetrosis, a genetic and epidemiological study. Clin Genet 1987, 31:86-90.
2. Del Fattore A., Peruzzi B., Rucci N., Recchia I., Cappariello A., Longo M., et al. Clinical, genetic, and cellular analysis of 49 osteopetrotic patients: implications for diagnosis and treatment. J Med Genet 2006, 43:315-325.
3. Waguespack S.G., Hui S.L., Dimeglio L.A., Econs M.J. Autosomal dominant osteopetrosis: clinical severity and natural history of 94 subjects with a chloride channel 7 gene mutation. J Clin Endocrinol Metab 2007, 92:771-778.
4. Bollerslev J., Mosekilde L. Autosomal dominant osteopetrosis. Clin Orthop Relat Res 1993, 294:45-51.
5. Van Wesenbeeck L., Van Hul W. Lessons from osteopetrotic mutations in animals: impact on our current understanding of osteoclast biology. Crit Rev Eukaryot Gene Expr 2005, 15:133-162.
6. Cleiren E., Bénichou O., Van Hul E., Gram J., Bollerslev J., Singer F.R., deVernejoul M.C., Van Hul W., et al. Albers-Schönberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene. Hum Mol Genet 2001, 10:2861-2867.
7. Chu K., Koller D.L., Snyder R., Fishburn T., Lai D., Waguespack S.G., et al. Analysis of variation in expression of autosomal dominant osteopetrosis type 2: searching for modifier genes. Bone 2005, 37:655-661.
8. Brandt S., Jentsch T.J. ClC-6 and ClC-7 are two novel broadly expressed members of the CLC chloride channel family. FEBS Lett 1995, 377:15-20.
9. Leisle L., Ludwig C.F., Wagner F.A., Jentsch T.J., Stauber T. ClC-7 is a slowly voltage-gated 2Cl(-)/1H(+)-exchanger and requires Ostm1 for transport activity. EMBO J 2011, 30:2140-2152.
10. Stauber T., Weinert S., Jentsch T.J. Cell biology and physiology of CLC chloride channels and transporters. Compr. Physiol. 2012, 2:1701-1744.
11. - accumulation. Science 2010, 328:1401-1403.
12. Kornak U., Kasper D., Bösl M.R., Kaiser E., Schweizer M., Schulz A., et al. Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man. Cell 2001, 104:205-215.
13. Schulz P., Werner J., Stauber T., Henriksen K., Fendler K. The G215R mutation in the Cl-/H+-antiporter ClC-7 found in ADO II osteopetrosis does not abolish function but causes a severe trafficking defect. PLoS One 2010, 5:e12585.
14. Henriksen K., Gram J., Schaller S., Dahl B.H., Dziegiel M.H., Bollerslev J., et al. Characterization of osteoclasts from patients harboring a G215R mutation in ClC-7 causing autosomal dominant osteopetrosis type II. Am J Pathol 2004, 164:1537-1545.
15. Bouxsein M.L., Boyd S.K., Christiansen B.A., Guldberg R.E., Jepsen K.J., Müller R. Guidelines for assessment of bone microstructure in rodents using micro-computed tomography. J Bone Miner Res 2010, 25:1468-1486.
16. Dempster D.W., Compston J.E., Drezner M.K., Glorieux F.H., Kanis J.A., Malluche H., et al. Standardized nomenclature, symbols, and units for bone histomorphometry: a 2012 update of the report of the ASBMR Histomorphometry Nomenclature Committee. J Bone Miner Res 2013, 28:1-16.
17. Rucci N., Rufo A., Alamanou M., Capulli M., Del Fattore A., Ahrman E., et al. The glycosaminoglycan-binding domain of PRELP acts as a cell type-specific NF-kappaB inhibitor that impairs osteoclastogenesis. J Cell Biol 2009, 187:669-683.
18. Chu K., Snyder R., Econs M.J. Disease status in autosomal dominant osteopetrosis type 2 is determined by osteoclastic properties. J Bone Miner Res 2006, 21:1089-1097.
19. Del Fattore A., Cappariello A., Teti A. Genetics, pathogenesis and complications of osteopetrosis. Bone 2008, 42:19-29.
20. Frattini A., Pangrazio A., Susani L., Sobacchi C., Mirolo M., Abinun M., et al. Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis. J Bone Miner Res 2003, 18:1740-1747.
21. Kasper D., Planells-Cases R., Fuhrmann J.C., Scheel O., Zeitz O., Ruether K., et al. Loss of the chloride channel ClC-7 leads to lysosomal storage disease and neurodegeneration. EMBO J 2005, 24:1079-1091.
22. Chalhoub N., Benachenhou N., RajapurohitaV V., Pata M., Ferron M., Frattini A., et al. Grey-lethal mutation induces severe malignant autosomal recessive osteopetrosis in mouse and human. Nat Med 2003, 9:399-406.
23. Pangrazio A., Pusch M., Caldana E., Frattini A., Lanino E., Tamhankar P.M., et al. Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations. Hum Mutat 2010, 31:E1071-E1080.
24. Bollerslev J., Nielsen H.K., Larsen H.F., Mosekilde L. Biochemical evidence of disturbed bone metabolism and calcium homeostasis in two types of autosomal dominant osteopetrosis. Acta Med Scand 1988, 224:479-483.
25. Bénichou O.D., Laredo J.D., de Vernejoul M.C. Type II autosomal dominant osteopetrosis (Albers-Schönberg disease): clinical and radiological manifestations in 42 patients. Bone 2000, 26:87-93.
26. Dutzler R., Campbell E.B., Cadene M., Chait B.T., MacKinnon R. X-ray structure of a ClC chloride channel at 3.0A reveals the molecular basis of anion selectivity. Nature 2002, 415:287-294.