The abnormal phenotypes of cartilage and bone in calcium-sensing receptor deficient mice are dependent on the actions of calcium, phosphorus, and PTH

PLoS Genetics

Volumn 7, Issue 9, 2011, Pages

  Liu, Jingning ^a   Lv, Fangqiao ^a   Sun, Wen ^a   Tao, Chunxiang ^a   Ding, Guoxian ^b   Karaplis, Andrew ^c   Brown, Edward ^d   Goltzman, David ^c   Miao, Dengshun ^a,b  

^a NANJING MEDICAL UNIVERSITY   (China)

^b THE FIRST AFFILIATED HOSPITAL OF NANJING MEDICAL UNIVERSITY   (China)

^c MCGILL UNIVERSITY   (Canada)

^d BRIGHAM AND WOMEN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALKALINE PHOSPHATASE; CALCITRIOL; CALCIUM; CALCIUM SENSING RECEPTOR; COLLAGEN TYPE 1; OSTEOCALCIN; OXYGENASE; PARATHYROID HORMONE; PARATHYROID HORMONE RELATED PROTEIN; PHOSPHORUS; STEROID MONOOXYGENASE; VITAMIN D 1 ALPHA HYDROXYLASE; VITAMIN D 1-ALPHA HYDROXYLASE;

ALKALINE PHOSPHATASE BLOOD LEVEL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; BONE; BONE DEVELOPMENT; CALCIUM BLOOD LEVEL; CALCIUM HOMEOSTASIS; CARTILAGE; CARTILAGE CELL; CELL COUNT; CELL PROLIFERATION; CONTROLLED STUDY; GROWTH PLATE; GROWTH RETARDATION; HOMOZYGOTE; HYPERCALCEMIA; HYPERPARATHYROIDISM; HYPOPHOSPHATEMIA; LIFESPAN; MOUSE; NONHUMAN; OSTEOBLAST; PHOSPHATE BLOOD LEVEL; PROTEIN EXPRESSION; PROTEIN INTERACTION; TRABECULAR BONE; WILD TYPE; ANIMAL; BLOOD; CONGENITAL MALFORMATION; GENETICS; METABOLISM; MOUSE MUTANT;

MUS;

ANIMALS; BONE AND BONES; CALCIUM; CARTILAGE; CELL PROLIFERATION; CHONDROCYTES; HOMOZYGOTE; HYPERPARATHYROIDISM; MICE; MICE, MUTANT STRAINS; OSTEOBLASTS; OSTEOGENESIS; PARATHYROID HORMONE; PHOSPHORUS; RECEPTORS, CALCIUM-SENSING; STEROID HYDROXYLASES;

EID: 80053453853     PISSN: 15537390     EISSN: 15537404     Source Type: Journal    
DOI: 10.1371/journal.pgen.1002294     Document Type: Article

References (49)

1. Hauache OM, (2001) Extracellular calcium-sensing receptor: structural and functional features and association with diseases. Braz J Med Biol Res 34: 577-584.
2. Law WM Jr, Heath H, 3rd, (1985) Familial benign hypercalcemia (hypocalciuric hypercalcemia). Clinical and pathogenetic studies in 21 families. Ann Intern Med 102: 511-519.
3. Marx SJ, Attie MF, Levine MA, Spiegel AM, Downs RW Jr, et al. (1981) The hypocalciuric or benign variant of familial hypercalcemia: clinical and biochemical features in fifteen kindreds. Medicine (Baltimore) 60: 397-412.
4. Pollak MR, Chou YH, Marx SJ, Steinmann B, Cole DE, et al. (1994) Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Effects of mutant gene dosage on phenotype. J Clin Invest 93: 1108-1112.
5. Ho C, Conner DA, Pollak MR, Ladd DJ, Kifor O, et al. (1995) A mouse model of human familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Nat Genet 11: 389-394.
6. Garner SC, Pi M, Tu Q, Quarles LD, (2001) Rickets in cation-sensing receptor-deficient mice: an unexpected skeletal phenotype. Endocrinology 142: 3996-4005.
7. Chang W, Tu C, Chen TH, Bikle D, Shoback D, (2008) The extracellular calcium-sensing receptor (CaSR) is a critical modulator of skeletal development. Sci Signal 1: ra1.
8. Miao D, He B, Karaplis AC, Goltzman D, (2002) Parathyroid hormone is essential for normal fetal bone formation. J Clin Invest 109: 1173-1182.
9. Miao D, He B, Lanske B, Bai XY, Tong XK, et al. (2004) Skeletal abnormalities in Pth-null mice are influenced by dietary calcium. Endocrinology 145: 2046-2053.
10. Kos CH, Karaplis AC, Peng JB, Hediger MA, Goltzman D, et al. (2003) The calcium-sensing receptor is required for normal calcium homeostasis independent of parathyroid hormone. J Clin Invest 111: 1021-1028.
11. Tu Q, Pi M, Karsenty G, Simpson L, Liu S, et al. (2003) Rescue of the skeletal phenotype in CasR-deficient mice by transfer onto the Gcm2 null background. J Clin Invest 111: 1029-1037.
12. Brenza HL, Kimmel-Jehan C, Jehan F, Shinki T, Wakino S, et al. (1998) Parathyroid hormone activation of the 25-hydroxyvitamin D3-1alpha-hydroxylase gene promoter. Proc Natl Acad Sci U S A 95: 1387-1391.
13. Murayama A, Takeyama K, Kitanaka S, Kodera Y, Hosoya T, et al. (1998) The promoter of the human 25-hydroxyvitamin D3 1 alpha-hydroxylase gene confers positive and negative responsiveness to PTH, calcitonin, and 1 alpha, 25(OH)2D3. Biochem Biophys Res Commun 249: 11-16.
14. Cantley LK, Russell J, Lettieri D, Sherwood LM, (1985) 1,25-Dihydroxyvitamin D3 suppresses parathyroid hormone secretion from bovine parathyroid cells in tissue culture. Endocrinology 117: 2114-2119.
15. Chan YL, McKay C, Dye E, Slatopolsky E, (1986) The effect of 1,25 dihydroxycholecalciferol on parathyroid hormone secretion by monolayer cultures of bovine parathyroid cells. Calcif Tissue Int 38: 27-32.
16. Szabo A, Merke J, Beier E, Mall G, Ritz E, (1989) 1,25(OH)2 vitamin D3 inhibits parathyroid cell proliferation in experimental uremia. Kidney Int 35: 1049-1056.
17. Liu SM, Koszewski N, Lupez M, Malluche HH, Olivera A, et al. (1996) Characterization of a response element in the 5′-flanking region of the avian (chicken) PTH gene that mediates negative regulation of gene transcription by 1,25-dihydroxyvitamin D3 and binds the vitamin D3 receptor. Mol Endocrinol 10: 206-215.
18. Beckerman P, Silver J, (1999) Vitamin D and the parathyroid. Am J Med Sci 317: 363-369.
19. Panda DK, Miao D, Tremblay ML, Sirois J, Farookhi R, et al. (2001) Targeted ablation of the 25-hydroxyvitamin D 1alpha-hydroxylase enzyme: evidence for skeletal, reproductive, and immune dysfunction. Proc Natl Acad Sci U S A 98: 7498-7503.
20. Dardenne O, Prud'homme J, Arabian A, Glorieux FH, St-Arnaud R, (2001) Targeted inactivation of the 25-hydroxyvitamin D(3)-1(alpha)-hydroxylase gene (CYP27B1) creates an animal model of pseudovitamin D-deficiency rickets. Endocrinology 142: 3135-3141.
21. Fraser D, Kooh SW, Kind HP, Holick MF, Tanaka Y, et al. (1973) Pathogenesis of hereditary vitamin-D-dependent rickets. An inborn error of vitamin D metabolism involving defective conversion of 25-hydroxyvitamin D to 1 alpha,25-dihydroxyvitamin D.N Engl J Med 289: 817-822.
22. Xue Y, Karaplis AC, Hendy GN, Goltzman D, Miao D, (2005) Genetic models show that parathyroid hormone and 1,25-dihydroxyvitamin D3 play distinct and synergistic roles in postnatal mineral ion homeostasis and skeletal development. Hum Mol Genet 14: 1515-1528.
23. Fukugawa M, Kurokawa K, (2002) Calcium homeostasis and imbalance. Nephron 92 (Suppl 1): 41-45.
24. Kremer R, Bolivar I, Goltzman D, Hendy GN, (1989) Influence of calcium and 1,25-dihydroxycholecalciferol on proliferation and proto-oncogene expression in primary cultures of bovine parathyroid cells. Endocrinology 125: 935-941.
25. Panda DK, Miao D, Bolivar I, Li J, Huo R, et al. (2004) Inactivation of the 25-hydroxyvitamin D 1alpha-hydroxylase and vitamin D receptor demonstrates independent and interdependent effects of calcium and vitamin D on skeletal and mineral homeostasis. J Biol Chem 279: 16754-16766.
26. Naja RP, Dardenne O, Arabian A, St Arnaud R, (2009) Chondrocyte-specific modulation of Cyp27b1 expression supports a role for local synthesis of 1,25-dihydroxyvitamin D3 in growth plate development. Endocrinology 150: 4024-4032.
27. Chang W, Tu C, Pratt S, Chen TH, Shoback D, (2002) Extracellular Ca(2+)-sensing receptors modulate matrix production and mineralization in chondrogenic RCJ3.1C5.18 cells. Endocrinology 143: 1467-1474.
28. Chang W, Tu C, Chen TH, Komuves L, Oda Y, et al. (1999) Expression and signal transduction of calcium-sensing receptors in cartilage and bone. Endocrinology 140: 5883-5893.
29. Rodriguez L, Cheng Z, Chen TH, Tu C, Chang W, (2005) Extracellular calcium and parathyroid hormone-related peptide signaling modulate the pace of growth plate chondrocyte differentiation. Endocrinology 146: 4597-4608.
30. Rodriguez L, Tu C, Cheng Z, Chen TH, Bikle D, et al. (2005) Expression and functional assessment of an alternatively spliced extracellular Ca2+-sensing receptor in growth plate chondrocytes. Endocrinology 146: 5294-5303.
31. Amizuka N, Karaplis AC, Henderson JE, Warshawsky H, Lipman ML, et al. (1996) Haploinsufficiency of parathyroid hormone-related peptide (PTHrP) results in abnormal postnatal bone development. Dev Biol 175: 166-176 Write to the Help Desk NCBI {pipe} NLM {pipe} NIH Department of Health & Human Services Privacy Statement {pipe} Freedom of Information Act {pipe} Disclaimer.
32. Karaplis AC, Luz A, Glowacki J, Bronson RT, Tybulewicz VL, et al. (1994) Lethal skeletal dysplasia from targeted disruption of the parathyroid hormone-related peptide gene. Genes Dev 8: 277-289.
33. Miao D, Li J, Xue Y, Su H, Karaplis AC, et al. (2004) Parathyroid hormone-related peptide is required for increased trabecular bone volume in parathyroid hormone-null mice. Endocrinology 145: 3554-3562.
34. Kremer R, Sebag M, Champigny C, Meerovitch K, Hendy GN, et al. (1996) Identification and characterization of 1,25-dihydroxyvitamin D3-responsive repressor sequences in the rat parathyroid hormone-related peptide gene. J Biol Chem 271: 16310-16316.
35. Tovar Sepulveda VA, Falzon M, (2002) Regulation of PTH-related protein gene expression by vitamin D in PC-3 prostate cancer cells. Mol Cell Endocrinol 190: 115-124.
36. Shu L, Ji J, Zhu Q, Cao G, Karaplis A, et al. (2011) The calcium-sensing receptor mediates bone turnover induced by dietary calcium and parathyroid hormone in neonates. J Bone Miner Res 26: 1057-1071.
37. Dvorak MM, Siddiqua A, Ward DT, Carter DH, Dallas SL, et al. (2004) Physiological changes in extracellular calcium concentration directly control osteoblast function in the absence of calciotropic hormones. Proc Natl Acad Sci U S A 101: 5140-5145.
38. Yamaguchi T, Chattopadhyay N, Kifor O, Brown EM, (1998) Extracellular calcium (Ca2+(o))-sensing receptor in a murine bone marrow-derived stromal cell line (ST2): potential mediator of the actions of Ca2+(o) on the function of ST2 cells. Endocrinology 139: 3561-3568.
39. Malgaroli A, Meldolesi J, Zallone AZ, Teti A, (1989) Control of cytosolic free calcium in rat and chicken osteoclasts. The role of extracellular calcium and calcitonin. J Biol Chem 264: 14342-14347.
40. Moonga BS, Moss DW, Patchell A, Zaidi M, (1990) Intracellular regulation of enzyme secretion from rat osteoclasts and evidence for a functional role in bone resorption. J Physiol 429: 29-45.
41. Zaidi M, Kerby J, Huang CL, Alam T, Rathod H, et al. (1991) Divalent cations mimic the inhibitory effect of extracellular ionised calcium on bone resorption by isolated rat osteoclasts: further evidence for a "calcium receptor". J Cell Physiol 149: 422-427.
42. Kanatani M, Sugimoto T, Kanzawa M, Yano S, Chihara K, (1999) High extracellular calcium inhibits osteoclast-like cell formation by directly acting on the calcium-sensing receptor existing in osteoclast precursor cells. Biochem Biophys Res Commun 261: 144-148.
43. Kameda T, Mano H, Yamada Y, Takai H, Amizuka N, et al. (1998) Calcium-sensing receptor in mature osteoclasts, which are bone resorbing cells. Biochem Biophys Res Commun 245: 419-422.
44. Mentaverri R, Yano S, Chattopadhyay N, Petit L, Kifor O, et al. (2006) The calcium sensing receptor is directly involved in both osteoclast differentiation and apoptosis. FASEB J 20: 2562-2564.
45. Waller S, Kurzawinski T, Spitz L, Thakker R, Cranston T, et al. (2004) Neonatal severe hyperparathyroidism: genotype/phenotype correlation and the use of pamidronate as rescue therapy. Eur J Pediatr 163: 589-594.
46. Al-Shanafey S, Al-Hosaini R, Al-Ashwal A, Al-Rabeeah A, (2010) Surgical management of severe neonatal hyperparathyroidism: one center's experience. J Pediatr Surg 45: 714-717.
47. Miao D, Bai X, Panda D, McKee M, Karaplis A, et al. (2001) Osteomalacia in hyp mice is associated with abnormal phex expression and with altered bone matrix protein expression and deposition. Endocrinology 142: 926-939.
48. Parfitt AM, Drezner MK, Glorieux FH, Kanis JA, Malluche H, et al. (1987) Bone histomorphometry: standardization of nomenclature, symbols, and units. Report of the ASBMR Histomorphometry Nomenclature Committee. J Bone Miner Res 2: 595-610.
49. Miao D, He B, Jiang Y, Kobayashi T, Soroceanu MA, et al. (2005) Osteoblast-derived PTHrP is a potent endogenous bone anabolic agent that modifies the therapeutic efficacy of administered PTH 1-34. J Clin Invest 115: 2402-2411.