Heterotopic ossifications in a mouse model of Albright hereditary osteodystrophy

PLoS ONE

Volumn 6, Issue 6, 2011, Pages

  Huso, David L ^a   Edie, Sarah ^a   Levine, Michael A ^b   Schwindinger, William ^c   Wang, Yingli ^d   Jüppner, Harald ^e   Germain Lee, Emily L ^a,f  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

^c WEIS CENTER FOR RESEARCH   (United States)

^d MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^e MASSACHUSETTS GENERAL HOSPITAL   (United States)

^f KENNEDY KRIEGER INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

OSTEONECTIN; OSTEOPONTIN; STIMULATORY GUANINE NUCLEOTIDE BINDING PROTEIN; BIOLOGICAL MARKER; GNAS PROTEIN, MOUSE; MINERAL;

ALBRIGHT SYNDROME; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; BONE MARROW CELL; BONE MINERALIZATION; BONE RADIOGRAPHY; COMPUTER ASSISTED TOMOGRAPHY; CONTROLLED STUDY; DISEASE ASSOCIATION; FEMALE; GNAS GENE; HETEROTOPIC OSSIFICATION; HUMAN; HUMAN TISSUE; IN SITU HYBRIDIZATION; MALE; MOUSE; MUTATOR GENE; NONHUMAN; PROTEIN EXPRESSION; SEX DIFFERENCE; SKIN INJURY; SUBCUTANEOUS TISSUE; TISSUE DISTRIBUTION; ANIMAL; DISEASE COURSE; DISEASE MODEL; GENE EXPRESSION REGULATION; GENETICS; METABOLISM; OSTEOBLAST; PATHOLOGY; SKIN; TIME;

ANIMALIA; MUS;

ANIMALS; BIOLOGICAL MARKERS; DISEASE MODELS, ANIMAL; DISEASE PROGRESSION; FEMALE; FIBROUS DYSPLASIA, POLYOSTOTIC; GENE EXPRESSION REGULATION; GTP-BINDING PROTEIN ALPHA SUBUNITS, GS; HUMANS; MALE; MICE; MINERALS; OSSIFICATION, HETEROTOPIC; OSTEOBLASTS; SKIN; TIME FACTORS;

EID: 79959637023     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0021755     Document Type: Article

References (48)

1. Eddy MC, Jan de Beur SM, Yandow SM, McAlister WH, Shore EM, et al. (2000) Deficiency of the alpha-subunit of the stimulatory G protein and severe extraskeletal ossification. J Bone Miner Res 15: 2074-2083.
2. Shore E, Ahn J, Jan de Beur S, Li M, Xu M, et al. (2002) Paternally-inherited inactivating mutations of the GNAS1 gene in progressive osseous heteroplasia. New Engl J Med 346: 99-106.
3. Plagge A, Kelsey G, Germain-Lee EL, (2008) Physiological functions of the imprinted Gnas locus and its protein variants Galpha(s) and XLalpha(s) in human and mouse. J Endocrinol 196: 193-214.
4. Lebrun M, Richard N, Abeguile G, David A, Coeslier Dieux A, et al. (2010) Progressive osseous heteroplasia: a model for the imprinting effects of GNAS inactivating mutations in humans. J Clin Endocrinol Metab 95: 3028-3038.
5. Jan de Beur SM, Levine MA, (2001) Pseudohypoparathyroidism: clinical, biochemical, and molecular features. In: Bilezikian JP, Markus R, Levine MA, editors. The parathyroids: basic and clinical concepts New York Academic Press pp. 807-825.
6. Weinstein L, Yu S, Warner D, Liu J, (2001) Endocrine manifestations of stimulatory G protein alpha-subunit mutations and the role of genomic imprinting. Endocr Rev 22: 675-705.
7. Levine M, (2000) Hypoparathyroidism and pseudohypoparathyroidism. In: DeGroot LJ, Jameson J, editors. Endocrinology. 4th ed Philadelphia W.B. Saunders pp. 1133-1153.
8. Bastepe M, Jüppner H, (2010) Pseudohypoparathyroidism, Albright's hereditary osteodystrophy, and progressive osseous heteroplasia: disorders caused by inactivating GNAS mutations. In: DeGroot LJ, Jameson JL, editors. Endocrinology. 6th ed Philadelphia W.B. Saunders Company pp. 1223-1235.
9. Yu S, Yu D, Lee E, Eckhaus M, Lee R, et al. (1998) Variable and tissue-specific hormone resistance in heterotrimeric Gs protein alpha-subunit (Gsα) knockout mice is due to tissue-specific imprinting of the Gsα gene. Proc Natl Acad Sci U S A 95: 8715-8720.
10. Germain-Lee EL, Schwindinger W, Crane JL, Zewdu R, Zweifel LS, et al. (2005) A mouse model of Albright hereditary osteodystrophy generated by targeted disruption of exon 1 of the Gnas gene. Endocrinology 146: 4697-4709.
11. Chen M, Gavrilova O, Liu J, Xie T, Deng C, et al. (2005) Alternative Gnas gene products have opposite effects on glucose and lipid metabolism. Proc Natl Acad Sci U S A 102: 7386-7391.
12. Davies AJ, Hughes HE, (1993) Imprinting in Albright's hereditary osteodystrophy. J Med Genet 30: 101-103.
13. Hayward B, Barlier A, Korbonits M, Grossman A, Jacquet P, et al. (2001) Imprinting of the G(s)alpha gene GNAS1 in the pathogenesis of acromegaly. J Clin Invest 107: R31-R36.
14. Germain-Lee EL, Ding CL, Deng Z, Crane JL, Saji M, et al. (2002) Paternal imprinting of Gαs in the human thyroid as the basis of TSH resistance in pseudohypoparathyroidism type 1a. Biochem Biophys Res Commun 296: 67-72.
15. Mantovani G, Ballare E, Giammona E, Beck-Peccoz P, Spada A, (2002) The gsalpha gene: predominant maternal origin of transcription in human thyroid gland and gonads. J Clin Endocrinol Metab 87: 4736-4740.
16. Germain-Lee EL, Groman J, Crane JL, Jan de Beur SM, Levine MA, (2003) Growth hormone deficiency in pseudohypoparathyroidism type 1a: another manifestation of multihormone resistance. J Clin Endocrinol Metab 88: 4059-4069.
17. Mantovani G, Maghnie M, Weber G, De Menis E, Brunelli V, et al. (2003) Growth hormone-releasing hormone resistance in pseudohypoparathyroidism type 1a: new evidence for imprinting of the Gs alpha gene. J Clin Endocrinol Metab 88: 4070-4074.
18. Liu J, Erlichman B, Weinstein L, (2003) The stimulatory G protein alpha-subunit Gs alpha is imprinted in human thyroid glands: implications for thyroid function in pseudohypoparathyroidism types 1A and 1B. J Clin Endocrinol Metab 88: 4336-4341.
19. Germain-Lee EL, (2006) Short stature, obesity, and growth hormone deficiency in pseudohypoparathyroidism type 1a. Pediatr Endocrinol Rev 3 (Suppl 2): 318-327.
20. Cortes W, Gosain AK, (2006) Recurrent ectopic calcification involving the maxillofacial skeleton: a potential harbinger of Albright's osteodystrophy. J Craniofac Surg 17: 21-27.
21. Yeh GL, Mathur S, Wivel A, Li M, Gannon FH, et al. (2000) GNAS1 mutation and Cbfa1 misexpression in a child with severe congenital platelike osteoma cutis. J Bone Miner Res 15: 2063-2073.
22. Adegbite NS, Xu M, Kaplan FS, Shore EM, Pignolo RJ, (2008) Diagnostic and mutational spectrum of progressive osseous heteroplasia (POH) and other forms of GNAS-based heterotopic ossification. Am J Med Genet A 146A: 1788-1796.
23. Schwindinger WF, Reese KJ, Lawler AM, Gearhart JD, Levine MA, (1997) Targeted disruption of Gnas in embryonic stem cells. Endocrinology 138: 4058-4063.
24. Huso D, McGuire S, Germain-Lee E, (2007) Heterotopic subcutaneous ossifications in a mouse model of Albright hereditary osteodystropy. In: The Endocrine Society 89th Annual Meeting. Toronto, Canada.
25. Wilkinson D, (1992) In situ hybridization: a practical approach London Oxford University Press.
26. Wang Y, Sun M, Uhlhorn VL, Zhou X, Peter I, et al. (2010) Activation of p38 MAPK pathway in the skull abnormalities of Apert syndrome Fgfr2(+P253R) mice. BMC Dev Biol 10: 22.
27. Hsu S, Long D, Cutting G, Germain-Lee EL, (2006) Phenotypic heterogeneity resulting from GNAS mutations. Pediatr Res 59: 3514.111.
28. Sakamoto A, Chen M, Kobayashi T, Kronenberg HM, Weinstein LS, (2005) Chondrocyte-specific knockout of the G protein G(s)alpha leads to epiphyseal and growth plate abnormalities and ectopic chondrocyte formation. J Bone Miner Res 20: 663-671.
29. Sakamoto A, Plagge A, Eckhaus M, Kelsey G, Weinstein LS, (2009) GNAS hapolinsufficiency leads to subcutaneous tumor formation with collagen and elastin deposition and calcification. Endocr Res 34 (1): 1-9.
30. Lazansky MG, (1973) Complications revisited. The debit side of total hip replacement. Clin Orthop Relat Res 95: 96-103.
31. Morrey BF, Adams RA, Cabanela ME, (1984) Comparison of heterotopic bone after anterolateral, transtrochanteric, and posterior approaches for total hip arthroplasty. Clin Orthop Relat Res 188: 160-167.
32. Ritter MA, Vaughan RB, (1977) Ectopic ossification after total hip arthroplasty. Predisposing factors, frequency, and effect on results. J Bone Joint Surg Am 59: 345-351.
33. Soballe K, Christensen F, Kristensen SS, (1988) Ectopic bone formation after total hip arthroplasty. Clin Orthop Relat Res 228: 57-62.
34. Hu HP, Slooff TJ, van Horn JR, (1991) Heterotopic ossification following total hip arthroplasty: a review. Acta Orthop Belg 57: 169-182.
35. DeLee J, Ferrari A, Charnley J, (1976) Ectopic bone formation following low friction arthroplasty of the hip. Clin Orthop Relat Res 121: 53-59.
36. Levine MA, Eil C, Downs RW Jr, Spiegel AM, (1983) Deficient guanine nucleotide regulatory unit activity in cultured fibroblast membranes from patients with pseudohypoparathyroidism type I. A cause of impaired synthesis of 3′,5′-cyclic AMP by intact and broken cells. J Clin Invest 72: 316-324.
37. Bastepe M, Weinstein LS, Ogata N, Kawaguchi H, Jüppner H, et al. (2004) Stimulatory G protein directly regulates hypertrophic differentiation of growth plate cartilage in vivo. Proc Natl Acad Sci U S A 101: 14794-14799.
38. Sakamoto A, Chen M, Nakamura T, Xie T, Karsenty G, et al. (2005) Deficiency of the G-protein alpha-subunit G(s)alpha in osteoblasts leads to differential effects on trabecular and cortical bone. J Biol Chem 280: 21369-21375.
39. Mantovani G, Bondioni S, Locatelli M, Pedroni C, Lania AG, et al. (2004) Biallelic expression of the Gsalpha gene in human bone and adipose tissue. J Clin Endocrinol Metab 89: 6316-6319.
40. Jahoda CA, Whitehouse J, Reynolds AJ, Hole N, (2003) Hair follicle dermal cells differentiate into adipogenic and osteogenic lineages. Exp Dermatol 12: 849-859.
41. Botchkarev VA, (2003) Bone morphogenetic proteins and their antagonists in skin and hair follicle biology. J Invest Dermatol 120: 36-47.
42. Perez-Moreno M, Fuchs E, (2006) Catenins: keeping cells from getting their signals crossed. Dev Cell 11: 601-612.
43. Fuchs E, (2007) Scratching the surface of skin development. Nature 445: 834-42.
44. Safer JD, Ray S, Holick MF, (2007) A topical parathyroid hormone/parathyroid hormone-related peptide receptor antagonist stimulates hair growth in mice. Endocrinology 148: 1167-1170.
45. Thomson M, McCarroll J, Bond J, Gordon-Thomson C, E DW, et al. (2003) Parathyroid hormone-related peptide modulates signal pathways in skin and hair follicle cells. Exp Dermatol 12: 389-395.
46. Wang Y, Yang SX, Tu P, Zhang B, Ma SQ, (2002) Expression of parathyroid hormone (PTH)/PTH-related peptide receptor messenger ribonucleic acid in mice hair cycle. J Dermatol Sci 30: 136-141.
47. Lietman SA, Ding C, Cooke DW, Levine MA, (2005) Reduction in Gsalpha induces osteogenic differentiation in human mesenchymal stem cells. Clin Orthop Relat Res 434: 231-238.
48. Medici D, Shore EM, Lounev VY, Kaplan FS, Kalluri R, et al. (2010) Conversion of vascular endothelial cells into multipotent stem-like cells. Nat Med 16: 1400-1406.