Pro416Arg cherubism mutation in Sh3bp2 knock-in mice affects osteoblasts and alters bone mineral and matrix properties

Bone

Volumn 46, Issue 5, 2010, Pages 1306-1315

  Wang, Chiachien J ^a   Chen, I Ping ^a   Koczon Jaremko, Boguslawa ^a   Boskey, Adele L ^b   Ueki, Yasuyoshi ^c,d   Kuhn, Liisa ^a   Reichenberger, Ernst J ^a  

^a UNIVERSITY OF CONNECTICUT HEALTH CENTER   (United States)

^b HOSPITAL FOR SPECIAL SURGERY   (United States)

^c HARVARD SCHOOL OF DENTAL MEDICINE   (United States)

^d UNIVERSITY OF MISSOURI KANSAS CITY   (United States)

Author keywords

Cherubism; Fourier transform infrared imaging; GFP transgenic mice; Osteoblast; Sh3bp2

Indexed keywords

ADAPTOR PROTEIN; ALKALINE PHOSPHATASE BONE ISOENZYME; ARGININE; BONE SIALOPROTEIN; CARBONIC ACID; CD45 ANTIGEN; COLLAGEN TYPE 1; COLLAGEN TYPE 1A1; OSTEOCALCIN; OSTEOCLAST DIFFERENTIATION FACTOR; OSTEOPROTEGERIN; PHOSPHATE; PROLINE; PROTEIN SH3BP2; TRANSCRIPTION FACTOR RUNX2; TUMOR NECROSIS FACTOR ALPHA; UNCLASSIFIED DRUG;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; BONE MATRIX; BONE MINERAL; BONE MINERALIZATION; CALVARIA; CELL COUNT; CELL CULTURE; CELL DIFFERENTIATION; CELL FUNCTION; CELL MATURATION; COCULTURE; CONTROLLED STUDY; CORTICAL BONE; CROSS BREEDING; DISEASE MODEL; FEMUR; FIBROUS DYSPLASIA; GENE EXPRESSION; GENE MUTATION; GENE OVEREXPRESSION; HEMATOPOIETIC CELL; HOMOZYGOSITY; INFRARED SPECTROSCOPY; MACROPHAGE; MOUSE; MOUSE STRAIN; MUTANT; NONHUMAN; OSTEOBLAST; OSTEOCLASTOGENESIS; OSTEOLYSIS; PROMOTER REGION; PROTEIN CROSS LINKING; TRABECULAR BONE; TRANSGENIC MOUSE; WILD TYPE;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ANIMALS; BONE AND BONES; BONE DENSITY; CELL DIFFERENTIATION; CELLS, CULTURED; CHERUBISM; FEMALE; MALE; MICE; MICE, TRANSGENIC; MUTATION; OSTEOBLASTS; OSTEOGENESIS; POLYMERASE CHAIN REACTION; RANK LIGAND; SPECTROSCOPY, FOURIER TRANSFORM INFRARED;

EID: 77951253643     PISSN: 87563282     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bone.2010.01.380     Document Type: Article

References (46)

1. Ueki Y., Tiziani V., Santanna C., Fukai N., Maulik C., Garfinkle J., et al. Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism. Nat Genet 2001, 28:125-126.
2. Ueki Y., Lin C.Y., Senoo M., Ebihara T., Agata N., Onji M., et al. Increased myeloid cell responses to M-CSF and RANKL cause bone loss and inflammation in SH3BP2 "cherubism" mice. Cell 2007, 128:71-83.
3. Aliprantis A.O., Ueki Y., Sulyanto R., Park A., Sigrist K.S., Sharma S.M., et al. NFATc1 in mice represses osteoprotegerin during osteoclastogenesis and dissociates systemic osteopenia from inflammation in cherubism. J Clin Invest 2008, 118:3775-3789.
4. Juraschek M., Seibel M.J., Woitge H.W., Krempien B., Bauss F. Association between histomorphometry and biochemical markers of bone turnover in a longitudinal rat model of parathyroid hormone-related peptide (PTHrP)-mediated tumor osteolysis. Bone 2000, 26:475-483.
5. Wronski T.J., Halloran B.P., Bikle D.D., Globus R.K., Morey-Holton E.R. Chronic administration of 1, 25-dihydroxyvitamin D3: increased bone but impaired mineralization. Endocrinology 1986, 119:2580-2585.
6. Shapiro J.R., McBride D.J., Fedarko N.S. OIM and related animal models of osteogenesis imperfecta. Connect Tissue Res 1995, 31:265-268.
7. Kalajzic I., Staal A., Yang W.P., Wu Y., Johnson S.E., Feyen J.H., et al. Expression profile of osteoblast lineage at defined stages of diferentiation. J Biol Chem 2005, 280(26):24618-24626.
8. Dacic S., Kalajzic I., Visnjic D., Lichtler A.C., Rowe D.W. Col1a1-driven transgenic markers of osteoblast lineage progression. J Bone Miner Res 2001, 16:1228-1236.
9. Beresford J.N., Graves S.E., Smoothy C.A. Formation of mineralized nodules by bone derived cells in vitro: a model of bone formation?. Am J Med Genet 1993, 45:163-178.
10. Siggelkow H., Rebenstorff K., Kurre W., Niedhart C., Engel I., Schulz H., et al. Development of the osteoblast phenotype in primary human osteoblasts in culture: comparison with rat calvarial cells in osteoblast differentiation. J Cell Biochem 1999, 75:22-35.
11. Kalajzic I., Kalajzic Z., Kaliterna M., Gronowicz G., Clark S.H., Lichtler A.C., et al. Use of type I collagen green fluorescent protein transgenes to identify subpopulations of cells at different stages of the osteoblast lineage. J Bone Miner Res 2002, 17:15-25.
12. Jiang X., Kalajzic Z., Maye P., Braut A., Bellizzi J., Mina M., et al. Histological analysis of GFP expression in murine bone. J Histochem Cytochem 2005, 53:593-602.
13. Gourion-Arsiquaud S., West P.A., Boskey A.L. Fourier transform-infrared microspectroscopy and microscopic imaging. Methods Mol Biol 2008, 455:293-303.
14. Gadaleta S.J., Landis W.J., Boskey A.L., Mendelsohn R. Polarized FT-IR microscopy of calcified turkey leg tendon. Connect Tissue Res 1996, 34:203-211.
15. 3(2-). J Bone Miner Res 2001, 16:893-900.
16. Paschalis E.P., Verdelis K., Doty S.B., Boskey A.L., Mendelsohn R., Yamauchi M. Spectroscopic characterization of collagen cross-links in bone. J Bone Miner Res 2001, 16:1821-1828.
17. Blank R.D., Baldini T.H., Kaufman M., Bailey S., Gupta R., Yershov Y., et al. Spectroscopically determined collagen Pyr/deH-DHLNL cross-link ratio and crystallinity indices differ markedly in recombinant congenic mice with divergent calculated bone tissue strength. Connect Tissue Res 2003, 44:134-142.
18. Boskey A., Pleshko Camacho N. FT-IR imaging of native and tissue-engineered bone and cartilage. Biomaterials 2007, 28:2465-2478.
19. Parfitt A.M., Drezner M.K., Glorieux F.H., Kanis J.A., Malluche H., Meunier P.J., et al. Bone histomorphometry: standardization of nomenclature, symbols, and units. Report of the ASBMR Histomorphometry Nomenclature Committee. J Bone Miner Res 1987, 2:595-610.
20. Mayer-Kuckuk P., Boskey A.L. Molecular imaging promotes progress in orthopedic research. Bone 2006, 39:965-977.
21. Boskey A., Mendelsohn R. Infrared analysis of bone in health and disease. J Biomed Opt 2005, 10:031102.
22. Boskey A.L., DiCarlo E., Paschalis E., West P., Mendelsohn R. Comparison of mineral quality and quantity in iliac crest biopsies from high- and low-turnover osteoporosis: an FT-IR microspectroscopic investigation. Osteoporos Int 2005, 16:2031-2038.
23. Verdelis K., Lukashova L., Yamauchi M., Atsawasuwan P., Wright J.T., Peterson M.G., et al. Changes in matrix phosphorylation during bovine dentin development. Eur J Oral Sci 2007, 115:296-302.
24. Camacho N.P., Landis W.J., Boskey A.L. Mineral changes in a mouse model of osteogenesis imperfecta detected by Fourier transform infrared microscopy. Connect Tissue Res 1996, 35:259-265.
25. Boskey A. Mineral changes in osteopetrosis. Crit Rev Eukaryot Gene Expr 2003, 13:109-116.
26. Faibish D., Gomes A., Boivin G., Binderman I., Boskey A. Infrared imaging of calcified tissue in bone biopsies from adults with osteomalacia. Bone 2005, 36:6-12.
27. Faibish D., Ott S.M., Boskey A.L. Mineral changes in osteoporosis: a review. Clin Orthop Relat Res 2006, 443:28-38.
28. Gronowicz G., Woodiel F.N., McCarthy M.B., Raisz L.G. In vitro mineralization of fetal rat parietal bones in defined serum-free medium: effect of beta-glycerol phosphate. J Bone Miner Res 1989, 4:313-324.
29. Bonewald L.F., Harris S.E., Rosser J., Dallas M.R., Dallas S.L., Camacho N.P., et al. von Kossa staining alone is not sufficient to confirm that mineralization in vitro represents bone formation. Calcif Tissue Int 2003, 72:537-547.
30. Mukherjee PM, Wang CJ, Chen I-P, Koczon-Jaremko B, Olsen BR, Ueki Y, Reichenberger E. Cherubism gene Sh3bp2 is important for optimal bone formation, osteoblast differentiation and function. AJODO (accepted for publication).
31. Grynpas M.D., Holmyard D. Changes in quality of bone mineral on aging and in disease. Scanning Microsc 1988, 2:1045-1054.
32. Sastry T.P., Chandrsekaran A., Sundaraseelan J., Ramasastry M., Sreedhar R. Comparative study of some physico-chemical characteristics of osteoporotic and normal human femur heads. Clin Biochem 2007, 40:907-912.
33. Paschalis E.P., Glass E.V., Donley D.W., Eriksen E.F. Bone mineral and collagen quality in iliac crest biopsies of patients given teriparatide: new results from the fracture prevention trial. J Clin Endocrinol Metab 2005, 90:4644-4649.
34. Durchschlag E., Paschalis E.P., Zoehrer R., Roschger P., Fratzl P., Recker R., et al. Bone material properties in trabecular bone from human iliac crest biopsies after 3- and 5-year treatment with risedronate. J Bone Miner Res 2006, 21:1581-1590.
35. Gourion-Arsiquaud S., Faibish D., Myers E., Spevak L., Compston J., Hodsman A., et al. Use of FTIR spectroscopic imaging to identify parameters associated with fragility fracture. J Bone Miner Res 2009, 24:1565-1571.
36. Atti E., Gomez S., Wahl S.M., Mendelsohn R., Paschalis E., Boskey A.L. Effects of transforming growth factor-beta deficiency on bone development: a Fourier transform-infrared imaging analysis. Bone 2002, 31:675-684.
37. Kuhn L.T., Grynpas M.D., Rey C.C., Wu Y., Ackerman J.L., Glimcher M.J. A comparison of the physical and chemical differences between cancellous and cortical bovine bone mineral at two ages. Calcif Tissue Int 2008, 83:146-154.
38. Paschalis E.P., Shane E., Lyritis G., Skarantavos G., Mendelsohn R., Boskey A.L. Bone fragility and collagen cross-links. J Bone Miner Res 2004, 19:2000-2004.
39. Ren R., Mayer B.J., Cicchetti P., Baltimore D. Identification of a ten-amino acid proline-rich SH3 binding site. Science 1993, 259:1157-1161.
40. Li B., Boast S., Santos K., Schieren I., Quiroz M., Teitelbaum S.L., et al. Mice deficient in Abl are osteoporotic and have defects in osteoblast maturation. Nat Genet 2000, 24:304-308.
41. Boban I., Jacquin C., Prior K., Barisic-Dujmovic T., Maye P., Clark S.H., et al. The 3.6 kb DNA fragment from the rat Col1a1 gene promoter drives the expression of genes in both osteoblast and osteoclast lineage cells. Bone 2006, 39:1302-1312.
42. de la Fuente M.A., Kumar L., Lu B., Geha R.S. 3BP2 deficiency impairs the response of B cells, but not T cells, to antigen receptor ligation. Mol Cell Biol 2006, 26:5214-5225.
43. Thomas G.P., Baker S.U., Eisman J.A., Gardiner E.M. Changing RANKL/OPG mRNA expression in differentiating murine primary osteoblasts. J Endocrinol 2001, 170:451-460.
44. Atkins G.J., Kostakis P., Pan B., Farrugia A., Gronthos S., Evdokiou A., et al. RANKL expression is related to the differentiation state of human osteoblasts. J Bone Miner Res 2003, 18:1088-1098.
45. Walsh N.C., Reinwald S., Manning C.A., Condon K.W., Iwata K., Burr D.B., et al. Osteoblast function is compromised at sites of focal bone erosion in inflammatory arthritis. J Bone Miner Res 2009, 24:1572-1585.
46. Gilbert L., He X., Farmer P., Boden S., Kozlowski M., Rubin J., et al. Inhibition of osteoblast differentiation by tumor necrosis factor-alpha. Endocrinology 2000, 141:3956-3964.