Skip to main content
SpringerLink
Log in

Genetic and Epigenetic Aspects of Bone Development

  • Chapter
  • First Online:
Bone and Development

Part of the book series: Topics in Bone Biology ((TBB,volume 6))

Abstract

It now is widely accepted that genes provide the template for the cell and ultimately for the organism, but that was not always the case. Gregor Mendel first developed the hypothesis that a hereditary force was at work when he crossed green and yellow pea plants in the mid 1800s [40]. Although Mendel was unable to identify what we now know to be genes, several years later, Oswald Avery led us to that discovery [40]. Genes carry the information needed to develop in utero, grow postnatally, and mature into adult beings. As development proceeds into adulthood, various genes are expressed at different times. Most humans carry 23 pairs of chromosomes with 22 pairs made up by somatic chromosomes and 1 pair determining whether an individual will be a male (XY) or a female (XX). Major advances in the DNA technology and high throughput sequencing have shown that there are fewer than 30,000 genes that encode proteins in the human body, and even fewer than that number are expressed and still a smaller subset is expressed at any one time in an individual differentiated cell. Nonetheless, the transcriptome of a cell is complex and may include more than tens of thousands of gene products than the active genes owing to the alternative exon utilization, allelic preferences, and transcript processing. The osteoblast transcriptome has been analyzed and compared with those in similar cells, such as chondrocytes and fibroblasts [50]. As expected, while there are many common gene products expressed, the osteoblast transcriptome is unique and endows this specialized bone cell with its characteristic properties. The combined forces of inherited genetic sequence and epigenetic control of gene expression further refine the transcriptome of each individual human being, such that no two individuals possess exactly identical bone cells. These differences account for the fundamental variation in bone shape, length, subarchitecture, mineral density, and responses to stimuli that occur in the human population.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution
Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 89.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 119.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD 169.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

References

  1. Addison WN, Nakano Y, Loisel T, Crine P, McKee MD (2008) MEPE-ASARM peptides control extracellular matrix mineralization by binding to hydroxyapatite: an inhibition regulated by PHEX cleavage of ASARM. J Bone Miner Res 23: 1638-1649

    Article  CAS  PubMed  Google Scholar 

  2. 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

    Article  CAS  PubMed  Google Scholar 

  3. Aliprantis AO, Ueki Y, Sulyanto R, Park A, Sigrist KS, Sharma SM, Ostrowski MC, Olsen BR, Glimcher LH (2008) NFATc1 in mice represses osteoprotegerin ­during osteoclastogenesis and dissociates systemic osteopenia from inflammation in cherubism. J Clin Invest 118:3775-3789

    Article  CAS  PubMed  Google Scholar 

  4. Amir RE, Van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY (1999) Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet 23: 185-188

    Article  CAS  PubMed  Google Scholar 

  5. Anderson PH, Atkins GJ (2008) The skeleton as an intracrine organ for vitamin D metabolism. Mol Aspects Med 29:397-406

    Article  CAS  PubMed  Google Scholar 

  6. Argiro L, Desbarats M, Glorieux FH, Ecarot B (2001) Mepe, the gene encoding a tumor-secreted protein in oncogenic hypophosphatemic osteomalacia, is expressed in bone. Genomics 74:342-351

    Article  CAS  PubMed  Google Scholar 

  7. Aubin JE (1998) Bone stem cells. J Cell Biochem Suppl 30-31:73-82

    Article  CAS  PubMed  Google Scholar 

  8. Barros NM, Nascimento FD, Oliveira V, Juliano MA, Juliano L, Loisel T, Nader HB, Boileau G, Tersariol IL, Carmona AK (2008) The critical interaction of the metallopeptidase PHEX with heparan sulfate proteoglycans. Int J Biochem Cell Biol 40:2781-2792

    Article  CAS  PubMed  Google Scholar 

  9. Bartolomei MS, Tilghman SM (1997) Genomic imprinting in mammals. Annu Rev Genet 31: 493-525

    Article  CAS  PubMed  Google Scholar 

  10. Bastepe M, Juppner H (2005) GNAS locus and pseudohypoparathyroidism. Horm Res 63:65-74

    Article  CAS  PubMed  Google Scholar 

  11. Bell DM, Leung KK, Wheatley SC, Ng LJ, Zhou S, Ling KW, Sham MH, Koopman P, Tam PP, Cheah KS (1997) SOX9 directly regulates the type-II collagen gene. Nat Genet 16:174-178

    Article  CAS  PubMed  Google Scholar 

  12. Blair JM, Zheng Y, Dunstan CR (2007) RANK ligand. Int J Biochem Cell Biol 39:1077-1081

    Article  CAS  PubMed  Google Scholar 

  13. Boluk A, Guzelipek M, Savli H, Temel I, Ozisik HI, Kaygusuz A (2004) The effect of valproate on bone mineral density in adult epileptic patients. Pharmacol Res 50:93-97

    Article  CAS  PubMed  Google Scholar 

  14. Bonjour JP, Chevalley T, Rizzoli R, Ferrari S (2007) Gene-environment interactions in the skeletal response to nutrition and exercise during growth. Med Sport Sci 51:64-80

    Article  PubMed  Google Scholar 

  15. Bourgeois P, Bolcato-Bellemin AL, Danse JM, Bloch-Zupan A, Yoshiba K, Stoetzel C, Perrin-Schmitt F (1998) The variable expressivity and incomplete penetrance of the twist-null heterozygous mouse phenotype resemble those of human Saethre-Chotzen syndrome. Hum Mol Genet 7:945-957

    Article  CAS  PubMed  Google Scholar 

  16. Boyan BD, Jennings EG, Wang L, Schwartz Z (2004) Mechanisms regulating differential activation of membrane-mediated signaling by 1alpha,25(OH)2D3 and 24R,25(OH)2D3. J Steroid Biochem Mol Biol 89-90:309-315

    Article  CAS  PubMed  Google Scholar 

  17. Briggs MD, Mortier GR, Cole WG, King LM, Golik SS, Bonaventure J, Nuytinck L, De Paepe A, Leroy JG, Biesecker L, Lipson M, Wilcox WR, Lachman RS, Rimoin DL, Knowlton RG, Cohn DH (1998) Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum. Am J Hum Genet 62:311-319

    Article  CAS  PubMed  Google Scholar 

  18. Bruder SP, Caplan AI (1989) Cellular and molecular events during embryonic bone development. Connect Tissue Res 20:65-71

    Article  CAS  PubMed  Google Scholar 

  19. Budden SS, Gunness ME (2001) Bone histomorphometry in three females with Rett syndrome. Brain Dev 23(suppl 1):S133-S137

    Article  PubMed  Google Scholar 

  20. Budden SS, Gunness ME (2003) Possible mechanisms of osteopenia in Rett syndrome: bone histomorphometric studies. J Child Neurol 18:698-702

    Article  PubMed  Google Scholar 

  21. Cepollaro C, Gonnelli S, Bruni D, Pacini S, Martini S, Franci MB, Gennari L, Rossi S, Hayek G, Zappella M, Gennari C (2001) Dual X-ray absorptiometry and bone ultrasonography in patients with Rett syndrome. Calcif Tissue Int 69:259-262

    Article  CAS  PubMed  Google Scholar 

  22. Chahrour M, Jung SY, Shaw C, Zhou X, Wong ST, Qin J, Zoghbi HY (2008) MeCP2, a key contributor to neurological disease, activates and represses transcription. Science 320:1224-1229

    Article  CAS  PubMed  Google Scholar 

  23. Chan I, Hamada T, Hardman C, McGrath JA, Child FJ (2004) Progressive osseous heteroplasia resulting from a new mutation in the GNAS1 gene. Clin Exp Dermatol 29:77-80

    Article  CAS  PubMed  Google Scholar 

  24. Chang EJ, Ha J, Huang H, Kim HJ, Woo JH, Lee Y, Lee ZH, Kim JH, Kim HH (2008) The JNK-dependent CaMK pathway restrains the reversion of committed cells during osteoclast differentiation. J Cell Sci 121: 2555-2564

    Article  CAS  PubMed  Google Scholar 

  25. Chen TL, Posey KL, Hecht JT, Vertel BM (2008) COMP mutations: domain-dependent relationship between abnormal chondrocyte trafficking and clinical PSACH and MED phenotypes. J Cell Biochem 103:778-787

    Article  CAS  PubMed  Google Scholar 

  26. Chen WG, Chang Q, Lin Y, Meissner A, West AE, Griffith EC, Jaenisch R, Greenberg ME (2003) Derepres­sion of BDNF transcription involves calcium-dependent phosphorylation of MeCP2. Science 302:885-889

    Article  CAS  PubMed  Google Scholar 

  27. Cho HH, Park HT, Kim YJ, Bae YC, Suh KT, Jung JS (2005) Induction of osteogenic differentiation of human mesenchymal stem cells by histone deacetylase inhibitors. J Cell Biochem 96:533-542

    Article  CAS  PubMed  Google Scholar 

  28. Cohen MM Jr (2006) The new bone biology: pathologic, molecular, and clinical correlates. Am J Med Genet A 140:2646-2706

    PubMed  Google Scholar 

  29. Cohn DH (1995) Pseudoachondroplasia. GeneReviews at GeneTests: Medical Information Resource (database online). University of Washington, Seattle

    Google Scholar 

  30. Colantuoni C, Jeon OH, Hyder K, Chenchik A, Khimani AH, Narayanan V, Hoffman EP, Kaufmann WE, Naidu S, Pevsner J (2001) Gene expression profiling in postmortem Rett syndrome brain: differential gene expression and patient classification. Neurobiol Dis 8:847-865

    Article  CAS  PubMed  Google Scholar 

  31. Dai XM, Ryan GR, Hapel AJ, Dominguez MG, Russell RG, Kapp S, Sylvestre V, Stanley ER (2002) Targeted disruption of the mouse colony-stimulating factor 1 receptor gene results in osteopetrosis, mononuclear phagocyte deficiency, increased primitive progenitor cell frequencies, and reproductive defects. Blood 99:111-120

    Article  CAS  PubMed  Google Scholar 

  32. Daroszewska A, Ralston SH (2006) Mechanisms of disease: genetics of Paget’s disease of bone and related disorders. Nat Clin Pract Rheumatol 2:270-277

    Article  CAS  PubMed  Google Scholar 

  33. Darwanto A, Kitazawa R, Maeda S, Kitazawa S (2003) MeCP2 and promoter methylation cooperatively regulate E-cadherin gene expression in colorectal carcinoma. Cancer Sci 94:442-447

    Article  CAS  PubMed  Google Scholar 

  34. Deere M, Sanford T, Ferguson HL, Daniels K, Hecht JT (1998) Identification of twelve mutations in cartilage oligomeric matrix protein (COMP) in patients with pseudoachondroplasia. Am J Med Genet 80: 510-513

    Article  CAS  PubMed  Google Scholar 

  35. DeLise AM, Fischer L, Tuan RS (2000) Cellular interactions and signaling in cartilage development. Osteoarthr Cartil 8:309-334

    Article  CAS  PubMed  Google Scholar 

  36. de Nanclares GP, Fernandez-Rebollo E, Santin I, Garcia-Cuartero B, Gaztambide S, Menendez E, Morales MJ, Pombo M, Bilbao JR, Barros F, Zazo N, Ahrens W, Juppner H, Hiort O, Castano L, Bastepe M (2007) Epigenetic defects of GNAS in patients with pseudohypoparathyroidism and mild features of Albright’s hereditary osteodystrophy. J Clin Endocrinol Metab 92:2370-2373

    Article  PubMed  CAS  Google Scholar 

  37. Ding KH, Wang ZZ, Hamrick MW, Deng ZB, Zhou L, Kang B, Yan SL, She JX, Stern DM, Isales CM, Mi QS (2006) Disordered osteoclast formation in RAGE-deficient mouse establishes an essential role for RAGE in diabetes related bone loss. Biochem Biophys Res Commun 340:1091-1097

    Article  CAS  PubMed  Google Scholar 

  38. Doherty ES, Lacbawan F, Hadley DW, Brewer C, Zalewski C, Kim HJ, Solomon B, Rosenbaum K, Domingo DL, Hart TC, Brooks BP, Immken L, Lowry RB, Kimonis V, Shanske AL, Jehee FS, Bueno MR, Knightly C, McDonald-McGinn D, Zackai EH, Muenke M (2007) Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature. Am J Med Genet A 143A:3204-3215

    Article  CAS  PubMed  Google Scholar 

  39. Drewell RA, Goddard CJ, Thomas JO, Surani MA (2002) Methylation-dependent silencing at the H19 imprinting control region by MeCP2. Nucleic Acids Res 30:1139-1144

    Article  CAS  PubMed  Google Scholar 

  40. Dunn PM (2003) Gregor Mendel, OSA (1822-1884), founder of scientific genetics. Arch Dis Child Fetal Neonatal Ed 88:F537-F539

    Article  CAS  PubMed  Google Scholar 

  41. Erlebacher A, Filvaroff EH, Gitelman SE, Derynck R (1995) Toward a molecular understanding of skeletal development. Cell 80:371-378

    Article  CAS  PubMed  Google Scholar 

  42. Fan X, Roy EM, Murphy TC, Nanes MS, Kim S, Pike JW, Rubin J (2004) Regulation of RANKL promoter activity is associated with histone remodeling in murine bone stromal cells. J Cell Biochem 93:807-818

    Article  CAS  PubMed  Google Scholar 

  43. Foster JW, Dominguez-Steglich MA, Guioli S, Kwok C, Weller PA, Stevanovic M, Weissenbach J, Mansour S, Young ID, Goodfellow PN et al (1994) Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene. Nature 372:525-530

    Article  CAS  PubMed  Google Scholar 

  44. Francomano CA (2008) Achondroplasia. GeneReviews at GeneTests: Medical Information Resource (database online). University of Washington, Seattle

    Google Scholar 

  45. Gennari L, Becherini L, Masi L, Mansani R, Gonnelli S, Cepollaro C, Martini S, Montagnani A, Lentini G, Becorpi AM, Brandi ML (1998) Vitamin D and estrogen receptor allelic variants in Italian postmenopausal women: evidence of multiple gene contribution to bone mineral density. J Clin Endocrinol Metab 83: 939-944

    Article  CAS  PubMed  Google Scholar 

  46. Georgel PT, Horowitz-Scherer RA, Adkins N, Woodcock CL, Wade PA, Hansen JC (2003) Chromatin compaction by human MeCP2. Assembly of novel secondary chromatin structures in the absence of DNA methylation. J Biol Chem. 278: 32181-32188

    Article  CAS  PubMed  Google Scholar 

  47. Gerber HP, Vu TH, Ryan AM, Kowalski J, Werb Z, Ferrara N (1999) VEGF couples hypertrophic cartilage remodeling, ossification and angiogenesis during endochondral bone formation. Nat Med 5:623-628

    Article  CAS  PubMed  Google Scholar 

  48. Gonnelli S, Caffarelli C, Hayek J, Montagnani A, Cadirni A, Franci B, Lucani B, Rossi S, Nuti R (2008) Bone ultrasonography at phalanxes in patients with Rett syndrome: a 3-year longitudinal study. Bone 42:737-742

    Article  CAS  PubMed  Google Scholar 

  49. Grigoriadis AE, Wang ZQ, Cecchini MG, Hofstetter W, Felix R, Fleisch HA, Wagner EF (1994) c-Fos: a key regulator of osteoclast-macrophage lineage determination and bone remodeling. Science 266:443-448

    Article  CAS  PubMed  Google Scholar 

  50. Grundberg E, Brandstrom H, Lam KC, Gurd S, Ge B, Harmsen E, Kindmark A, Ljunggren O, Mallmin H, Nilsson O, Pastinen T (2008) Systematic assessment of the human osteoblast transcriptome in resting and induced primary cells. Physiol Genomics 33: 301-311

    Article  CAS  PubMed  Google Scholar 

  51. Guenou H, Kaabeche K, Mee SL, Marie PJ (2005) A role for fibroblast growth factor receptor-2 in the altered osteoblast phenotype induced by Twist haploinsufficiency in the Saethre-Chotzen syndrome. Hum Mol Genet 14:1429-1439

    Article  CAS  PubMed  Google Scholar 

  52. Guo CY, Ronen GM, Atkinson SA (2001) Long-term valproate and lamotrigine treatment may be a marker for reduced growth and bone mass in children with epilepsy. Epilepsia 42:1141-1147

    Article  CAS  PubMed  Google Scholar 

  53. Guy J, Hendrich B, Holmes M, Martin JE, Bird A (2001) A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome. Nat Genet 27:322-326

    Article  CAS  PubMed  Google Scholar 

  54. Haas RH, Dixon SD, Sartoris DJ, Hennessy MJ (1997) Osteopenia in Rett syndrome. J Pediatr 131: 771-774

    Article  CAS  PubMed  Google Scholar 

  55. Hagberg B (1985) Rett’s syndrome: prevalence and impact on progressive severe mental retardation in girls. Acta Paediatr Scand 74:405-408

    Article  CAS  PubMed  Google Scholar 

  56. Hagberg B, J. Aicardi, K. Dias, O. Ramos (1983) A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett’s syndrome: report of 35 cases. Ann Neurol 14:471-479

    Article  CAS  PubMed  Google Scholar 

  57. Hart KC, Robertson SC, Donoghue DJ (2001) Identi­fication of tyrosine residues in constitutively activated fibroblast growth factor receptor 3 involved in mitogenesis, Stat activation, and phosphatidylinositol 3-kinase activation. Mol Biol Cell. 12:931-942

    CAS  PubMed  Google Scholar 

  58. Hassan MQ, Javed A, Morasso MI, Karlin J, Montecino M, van Wijnen AJ, Stein GS, Stein JL, Lian JB (2004) Dlx3 transcriptional regulation of osteoblast differentiation: temporal recruitment of Msx2, Dlx3, and Dlx5 homeodomain proteins to chromatin of the osteocalcin gene. Mol Cell Biol. 24:9248-9261

    Article  CAS  PubMed  Google Scholar 

  59. Hayashi M, Nimura K, Kashiwagi K, Harada T, Takaoka K, Kato H, Tamai K, Kaneda Y (2007) Comparative roles of Twist-1 and Id1 in transcriptional regulation by BMP signaling. J Cell Sci 120:1350-1357

    Article  CAS  PubMed  Google Scholar 

  60. Healy C, Uwanogho D, Sharpe PT (1999) Regulation and role of Sox9 in cartilage formation. Dev Dyn 215:69-78

    Article  CAS  PubMed  Google Scholar 

  61. Hecht JT, Hayes E, Haynes R, Cole WG, Long RJ, Farach-Carson MC, Carson DD (2005) Differentiation-induced loss of heparan sulfate in human exostosis derived chondrocytes. Differentiation 73:212-221

    Article  CAS  PubMed  Google Scholar 

  62. Hecht JT, Makitie O, Hayes E, Haynes R, Susic M, Montufar-Solis D, Duke PJ, Cole WG (2004) Chondrocyte cell death and intracellular distribution of COMP and type IX collagen in the pseudoachondroplasia growth plate. J Orthop Res 22:759-767

    Article  CAS  PubMed  Google Scholar 

  63. Hecht JT, Nelson LD, Crowder E, Wang Y, Elder FF, Harrison WR, Francomano CA, Prange CK, Lennon GG, Deere M et al (1995) Mutations in exon 17B of cartilage oligomeric matrix protein (COMP) cause pseudoachondroplasia. Nat Genet 10:325-329

    Article  CAS  PubMed  Google Scholar 

  64. Heilberg IP, Hernandez E, Alonzo E, Valera R, Ferreira LG, Gomes SA, Bellorin-Font E, Weisinger JR (2005) Estrogen receptor (ER) gene polymorphism may predict the bone mineral density response to raloxifene in postmenopausal women on chronic hemodialysis. Ren Fail 27:155-161

    CAS  PubMed  Google Scholar 

  65. Helfrich MH, Hocking LJ (2008) Genetics and aetiology of Pagetic disorders of bone. Arch Biochem Biophys 473:172-182

    Article  CAS  PubMed  Google Scholar 

  66. Hinoi E, Bialek P, Chen YT, Rached MT, Groner Y, Behringer RR, Ornitz DM, Karsenty G (2006) Runx2 inhibits chondrocyte proliferation and hypertrophy through its expression in the perichondrium. Genes Dev 20:2937-2942

    Article  CAS  PubMed  Google Scholar 

  67. Horton WA, Hall JG, Hecht JT (2007) Achondroplasia. Lancet 370:162-172

    Article  CAS  PubMed  Google Scholar 

  68. Huang LF, Fukai N, Selby PB, Olsen BR, Mundlos S (1997) Mouse clavicular development: analysis of wild-type and cleidocranial dysplasia mutant mice. Dev Dyn 210:33-40

    Article  CAS  PubMed  Google Scholar 

  69. Hu R, Sharma SM, Bronisz A, Srinivasan R, Sankar U, Ostrowski MC (2007) Eos, MITF, and PU.1 recruit corepressors to osteoclast-specific genes in committed myeloid progenitors. Mol Cell Biol. 27:4018-4027

    Article  CAS  PubMed  Google Scholar 

  70. Ishida N, Hayashi K, Hoshijima M, Ogawa T, Koga S, Miyatake Y, Kumegawa M, Kimura T, Takeya T (2002) Large scale gene expression analysis of osteoclastogenesis in vitro and elucidation of NFAT2 as a key regulator. J Biol Chem 277:41147-41156

    Article  CAS  PubMed  Google Scholar 

  71. Jabs EW, Muller U, Li X, Ma L, Luo W, Haworth IS, Klisak I, Sparkes R, Warman ML, Mulliken JB et al (1993) A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis. Cell 75:443-450

    Article  CAS  PubMed  Google Scholar 

  72. Jones KL (ed) (2006) Smith’s recognizable patterns of human malformation, 6th edn. Elsevier Saunders, Philadelphia, pp 390-391; 462-465

    Google Scholar 

  73. Jones PL, Veenstra GJ, Wade PA, Vermaak D, Kass SU, Landsberger N, Strouboulis J, Wolffe AP (1998) Methylated DNA and MeCP2 recruit histone deacetylase to repress transcription. Nat Genet 19: 187-191

    Article  CAS  PubMed  Google Scholar 

  74. Karsenty G, Wagner EF (2002) Reaching a genetic and molecular understanding of skeletal development. Dev Cell 2:389-406

    Article  CAS  PubMed  Google Scholar 

  75. Keret D, Bassett GS, Bunnell WP, Marks HG (1988) Scoliosis in Rett syndrome. J Pediatr Orthop 8: 138-142

    CAS  PubMed  Google Scholar 

  76. Khosla S, Melton LJ III, Riggs BL (2002) Clinical review 144: estrogen and the male skeleton. J Clin Endocrinol Metab 87:1443-1450

    Article  CAS  PubMed  Google Scholar 

  77. Kim MS, Day CJ, Morrison NA (2005) MCP-1 is induced by receptor activator of nuclear factor-{kappa}B ligand, promotes human osteoclast fusion, and rescues granulocyte macrophage colony-stimulating factor suppression of osteoclast formation. J Biol Chem 280:16163-16169

    Article  CAS  PubMed  Google Scholar 

  78. Kim YJ, Lee MH, Wozney JM, Cho JY, Ryoo HM (2004) Bone morphogenetic protein-2-induced alkaline phosphatase expression is stimulated by Dlx5 and repressed by Msx2. J Biol Chem 279:50773-50780

    Article  CAS  PubMed  Google Scholar 

  79. Kinoshita T, Ikeda Y, Ishikawa R (2008) Genomic imprinting: a balance between antagonistic roles of parental chromosomes. Semin Cell Dev Biol 19:574-579

    Article  CAS  PubMed  Google Scholar 

  80. Kitahama S, Gibson MA, Hatzinikolas G, Hay S, Kuliwaba JL, Evdokiou A, Atkins GJ, Findlay DM (2000) Expression of fibrillins and other microfibril-associated proteins in human bone and osteoblast-like cells. Bone 27:61-67

    Article  CAS  PubMed  Google Scholar 

  81. Kitazawa R, Kitazawa S (2007) Methylation status of a single CpG locus 3 bases upstream of TATA-box of receptor activator of nuclear factor-kappaB ligand (RANKL) gene promoter modulates cell- and tissue-specific RANKL expression and osteoclastogenesis. Mol Endocrinol 21:148-158

    Article  CAS  PubMed  Google Scholar 

  82. Kitazawa R, Kitazawa S, Maeda S (1999) Promoter structure of mouse RANKL/TRANCE/OPGL/ODF gene. Biochim Biophys Acta 1445:134-141

    CAS  PubMed  Google Scholar 

  83. Kitazawa S, Kitazawa R (2002) Epigenetic control of mouse receptor activator of NF-kappa B ligand gene expression. Biochem Biophys Res Commun 293:126-131

    Article  CAS  PubMed  Google Scholar 

  84. Kleerekoper Q, Hecht JT, Putkey JA (2002) Disease-causing mutations in cartilage oligomeric matrix ­protein cause an unstructured Ca2+ binding domain. J Biol Chem 277:10581-10589

    Article  CAS  PubMed  Google Scholar 

  85. Kokura K, Kaul SC, Wadhwa R, Nomura T, Khan MM, Shinagawa T, Yasukawa T, Colmenares C, Ishii S (2001) The Ski protein family is required for MeCP2-mediated transcriptional repression. J Biol Chem 276:34115-34121

    Article  CAS  PubMed  Google Scholar 

  86. Komori T (2006) Regulation of osteoblast differentiation by transcription factors. J Cell Biochem 99: 233-1239

    Article  CAS  PubMed  Google Scholar 

  87. Komori T, Yagi H, Nomura S, Yamaguchi A, Sasaki K, Deguchi K, Shimizu Y, Bronson RT, Gao YH, Inada M, Sato M, Okamoto R, Kitamura Y, Yoshiki S, Kishimoto T (1997) Targeted disruption of Cbfa1 results in a complete lack of bone formation owing to maturational arrest of osteoblasts. Cell 89:755-764

    Article  CAS  PubMed  Google Scholar 

  88. Kumar S, Scott JX, Kanagalakshmi (2006) Cleido-Cranial Dysplasia: A Case Report. Internet J Ped Neonatol, Vol 6

    Google Scholar 

  89. Lamour V, Detry C, Sanchez C, Henrotin Y, Castronovo V, Bellahcene A (2007) Runx2- and histone deacetylase 3-mediated repression is relieved in differentiating human osteoblast cells to allow high bone sialoprotein expression. J Biol Chem 282:36240-36249

    Article  CAS  PubMed  Google Scholar 

  90. Legeai-Mallet L, Benoist-Lasselin C, Delezoide AL, Munnich A, Bonaventure J (1998) Fibroblast growth factor receptor 3 mutations promote apoptosis but do not alter chondrocyte proliferation in thanatophoric dysplasia. J Biol Chem 273:13007-13014

    Article  CAS  PubMed  Google Scholar 

  91. Leonard H, Thomson M, Bower C, Fyfe S, Constantinou J (1995) Skeletal abnormalities in Rett syndrome: increasing evidence for dysmorphogenetic defects. Am J Med Genet 58:282-285

    Article  CAS  PubMed  Google Scholar 

  92. Leonard H, Thomson MR, Glasson EJ, Fyfe S, Leonard S, Bower C, Christodoulou J, Ellaway C (1999) A population-based approach to the investigation of osteopenia in Rett syndrome. Dev Med Child Neurol 41:323-328

    Article  CAS  PubMed  Google Scholar 

  93. Liu J, Chen M, Deng C, Bourc’his D, Nealon JG, Erlichman B, Bestor TH, Weinstein LS (2005) Identi­fication of the control region for tissue-specific imprint­ing of the stimulatory G protein alpha-subunit. Proc Natl Acad Sci U S A 102:5513-5518

    Article  CAS  PubMed  Google Scholar 

  94. Liu J, Yu S, Litman D, Chen W, Weinstein LS (2000) Identification of a methylation imprint mark within the mouse Gnas locus. Mol Cell Biol 20: 5808-5817

    Article  CAS  PubMed  Google Scholar 

  95. Li Z, Kong K, Qi W (2006) Osteoclast and its roles in calcium metabolism and bone development and remodeling. Biochem Biophys Res Commun 343: 345-350

    Article  CAS  PubMed  Google Scholar 

  96. Lorentzon M, Lorentzon R, Nordstrom P (2000) Vitamin D receptor gene polymorphism is associated with birth height, growth to adolescence, and adult stature in healthy caucasian men: a cross-sectional and longitudinal study. J Clin Endocrinol Metab 85: 1666-1670

    Article  CAS  PubMed  Google Scholar 

  97. Lorentzon M, Swanson C, Eriksson AL, Mellstrom D, Ohlsson C (2006) Polymorphisms in the aromatase gene predict areal BMD as a result of affected cortical bone size: the GOOD study. J Bone Miner Res 21: 332-339

    Article  CAS  PubMed  Google Scholar 

  98. Manolagas SC (2000) Birth and death of bone cells: basic regulatory mechanisms and implications for the pathogenesis and treatment of osteoporosis. Endocr Rev 21:115-137

    Article  CAS  PubMed  Google Scholar 

  99. Matheny CJ, Speck ME, Cushing PR, Zhou Y, Corpora T, Regan M, Newman M, Roudaia L, Speck CL, Gu TL, Griffey SM, Bushweller JH, Speck NA (2007) Disease mutations in RUNX1 and RUNX2 create nonfunctional, dominant-negative, or hypomorphic alleles. EMBO J 26:1163-1175

    Article  CAS  PubMed  Google Scholar 

  100. Meehan RR, Lewis JD, Bird AP (1992) Characterization of MeCP2, a vertebrate DNA binding protein with affinity for methylated DNA. Nucleic Acids Res 20:5085-5092

    Article  CAS  PubMed  Google Scholar 

  101. Meehan RR, Lewis JD, McKay S, Kleiner EL, Bird AP (1989) Identification of a mammalian protein that binds specifically to DNA containing methylated CpGs. Cell 58:499-507

    Article  CAS  PubMed  Google Scholar 

  102. Meyer J, Sudbeck P, Held M, Wagner T, Schmitz ML, Bricarelli FD, Eggermont E, Friedrich U, Haas OA, Kobelt A, Leroy JG, Van Maldergem L, Michel E, Mitulla B, Pfeiffer RA, Schinzel A, Schmidt H, Scherer G (1997) Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations. Hum Mol Genet 6: 91-98

    Article  CAS  PubMed  Google Scholar 

  103. Meyers GA, Orlow SJ, Munro IR, Przylepa KA, Jabs EW (1995) Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans. Nat Genet 11:462-464

    Article  CAS  PubMed  Google Scholar 

  104. Minamitani K, Takahashi Y, Minagawa M, Yasuda T, Niimi H (1998) Difference in height associated with a translation start site polymorphism in the vitamin D receptor gene. Pediatr Res 44:628-632

    Article  CAS  PubMed  Google Scholar 

  105. Morgan HD, Santos F, Green K, Dean W, Reik W (2005) Epigenetic reprogramming in mammals. Hum Mol Genet. 14: R47-58

    Article  CAS  PubMed  Google Scholar 

  106. Motil KJ, Ellis KJ, Barrish JO, Caeg E, Glaze DG (2008) Bone mineral content and bone mineral density are lower in older than in younger females with Rett syndrome. Pediatr Res 64:435-439

    Article  PubMed  Google Scholar 

  107. Motil KJ, Schultz RJ, Abrams S, Ellis KJ, Glaze DG (2006) Fractional calcium absorption is increased in girls with Rett syndrome. J Pediatr Gastroenterol Nutr 42:419-426

    Article  PubMed  Google Scholar 

  108. Mundlos S (1999) Cleidocranial dysplasia: clinical and molecular genetics. J Med Genet 36:177-182

    CAS  PubMed  Google Scholar 

  109. Mundlos S, Olsen BR (1997) Heritable diseases of the skeleton. Part II: molecular insights into skeletal development-matrix components and their homeostasis. FASEB J 11:227-233

    CAS  PubMed  Google Scholar 

  110. Murthy AS (2009) X-linked hypophosphatemic rickets and craniosynostosis. J Craniofac Surg 20: 439-442

    Article  PubMed  Google Scholar 

  111. Nan X, Campoy FJ, Bird A (1997) MeCP2 is a transcriptional repressor with abundant binding sites in genomic chromatin. Cell 88:471-481

    Article  CAS  PubMed  Google Scholar 

  112. Nan X, Meehan RR, Bird A (1993) Dissection of the methyl-CpG binding domain from the chromosomal protein MeCP2. Nucleic Acids Res 21: 4886-4892

    Article  CAS  PubMed  Google Scholar 

  113. Nan X, Ng HH, Johnson CA, Laherty CD, Turner BM, Eisenman RN, Bird A (1998) Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex [see comments]. Nature 393:386-389

    Article  CAS  PubMed  Google Scholar 

  114. Nan X, Tate P, Li E, Bird A (1996) DNA methylation specifies chromosomal localization of MeCP2. Mol Cell Biol 16:414-421

    CAS  PubMed  Google Scholar 

  115. Naski MC, Ornitz DM (1998) FGF signaling in skeletal development. Front Biosci 3:d781-94

    CAS  PubMed  Google Scholar 

  116. Newberry EP, Latifi T, Towler DA (1998) Reciprocal regulation of osteocalcin transcription by the homeodomain proteins Msx2 and Dlx5. Biochemistry 37: 16360-16368

    Article  CAS  PubMed  Google Scholar 

  117. O’Connor RD, Zayzafoon M, Farach-Carson MC, Schanen NC (2009) Mecp2 deficiency decreases bone formation and reduces bone volume in a rodent model of Rett syndrome. Bone 45(2):346-356

    Article  PubMed  CAS  Google Scholar 

  118. O’Rourke MP, Soo K, Behringer RR, Hui CC, Tam PP (2002) Twist plays an essential role in FGF and SHH signal transduction during mouse limb development. Dev Biol 248:143-156

    Article  PubMed  CAS  Google Scholar 

  119. Olsen BR, Reginato AM, Wang W (2000) Bone development. Annu Rev Cell Dev Biol 16:191-220

    Article  CAS  PubMed  Google Scholar 

  120. Orwoll ES (2003) Men, bone and estrogen: unresolved issues. Osteoporos Int 14:93-98

    CAS  PubMed  Google Scholar 

  121. Otto F, Kanegane H, Mundlos S (2002) Mutations in the RUNX2 gene in patients with cleidocranial dysplasia. Hum Mutat 19:209-216

    Article  CAS  PubMed  Google Scholar 

  122. Pannier S, Legeai-Mallet L (2008) Hereditary multiple exostoses and enchondromatosis. Best Pract Res Clin Rheumatol 22:45-54

    Article  CAS  PubMed  Google Scholar 

  123. Pedone PV, Pikaart MJ, Cerrato F, Vernucci M, Ungaro P, Bruni CB, Riccio A (1999) Role of histone acetylation and DNA methylation in the maintenance of the imprinted expression of the H19 and Igf2 genes. FEBS Lett 458:45-50

    Article  CAS  PubMed  Google Scholar 

  124. Peters J, Holmes R, Monk D, Beechey CV, Moore GE, Williamson CM (2006) Imprinting control within the compact Gnas locus. Cytogenet Genome Res 113:194-201

    Article  CAS  PubMed  Google Scholar 

  125. Peters J, Wroe SF, Wells CA, Miller HJ, Bodle D, Beechey CV, Williamson CM, Kelsey G (1999) A cluster of oppositely imprinted transcripts at the Gnas locus in the distal imprinting region of mouse chromosome 2. Proc Natl Acad Sci U S A 96: 3830-3835

    Article  CAS  PubMed  Google Scholar 

  126. Pfeifer K (2000) Mechanisms of genomic imprinting. Am J Hum Genet 67:777-787

    Article  CAS  PubMed  Google Scholar 

  127. Posey KL et al. (2008) Thrombospondins: from structure to therapeutics. Cell Mol Life Sci 65:687-699

    Article  CAS  PubMed  Google Scholar 

  128. Prinos P, Costa T, Sommer A, Kilpatrick MW, Tsipouras P (1995) A common FGFR3 gene mutation in hypochondroplasia. Hum Mol Genet 4:2097-2101

    Article  CAS  PubMed  Google Scholar 

  129. Puppin C, Pellizzari L, Fabbro D, Fogolari F, Tell G, Tessa A, Santorelli FM, Damante G (2005) Functional analysis of a novel RUNX2 missense mutation found in a family with cleidocranial dysplasia. J Hum Genet 50:679-683

    Article  CAS  PubMed  Google Scholar 

  130. Ratisoontorn C, Cunningham ML (2005) Saethre-Chotzen syndrome. GeneReviews at GeneTests: Medical Information Resource (database online). University of Washington, Seattle

    Google Scholar 

  131. Reik W, Dean W, Walter J (2001) Epigenetic reprogramming in mammalian development. Science 293:1089-1093

    Article  CAS  PubMed  Google Scholar 

  132. Reik W, Walter J (2001) Genomic imprinting: parental influence on the genome. Nat Rev Genet 2: 21-32

    Article  CAS  PubMed  Google Scholar 

  133. Riancho JA, Zarrabeitia MT, Valero C, Sanudo C, Mijares V, Gonzalez-Macias J (2006) A gene-to-gene interaction between aromatase and estrogen receptors influences bone mineral density. Eur J Endocrinol 155:53-59

    Article  CAS  PubMed  Google Scholar 

  134. Rideout WM III, Eggan K, Jaenisch R (2001) Nuclear cloning and epigenetic reprogramming of the genome. Science 293:1093-1098

    Article  CAS  PubMed  Google Scholar 

  135. Riggs BL, Khosla S, Melton LJ III (1998) A unitary model for involutional osteoporosis: estrogen deficiency causes both type I and type II osteoporosis in postmenopausal women and contributes to bone loss in aging men. J Bone Miner Res 13:763-773

    Article  CAS  PubMed  Google Scholar 

  136. Robledo RF, Rajan L, Li X, Lufkin T (2002) The Dlx5 and Dlx6 homeobox genes are essential for craniofacial, axial, and appendicular skeletal development. Genes Dev 16:1089-1101

    Article  CAS  PubMed  Google Scholar 

  137. Ryoo HM, Hoffmann HM, Beumer T, Frenkel B, Towler DA, Stein GS, Stein JL, van Wijnen AJ, Lian JB (1997) Stage-specific expression of Dlx-5 during osteoblast differentiation: involvement in regulation of osteocalcin gene expression. Mol Endocrinol 11:1681-1694

    Article  CAS  PubMed  Google Scholar 

  138. Samee N, Geoffroy V, Marty C, Schiltz C, Vieux-Rochas M, Levi G, de Vernejoul MC (2008) Dlx5, a positive regulator of osteoblastogenesis, is essential for osteoblast-osteoclast coupling. Am J Pathol 173:773-780

    Article  CAS  PubMed  Google Scholar 

  139. Sato Y, Kondo I, Ishida S, Motooka H, Takayama K, Tomita Y, Maeda H, Satoh K (2001) Decreased bone mass and increased bone turnover with valproate therapy in adults with epilepsy. Neurology 57: 445-449

    CAS  PubMed  Google Scholar 

  140. Savarirayan R, Robertson SP, Bankier A, Rogers JG (2003) Variable expression of campomelic dysplasia in a father and his 46, XY daughter. Pediatr Pathol Mol Med. 22:37-46

    Article  CAS  PubMed  Google Scholar 

  141. Scherer SW, Poorkaj P, Allen T, Kim J, Geshuri D, Nunes M, Soder S, Stephens K, Pagon RA, Patton MA et al (1994) Fine mapping of the autosomal dominant split hand/split foot locus on chromosome 7, band q21.3-q22.1. Am J Hum Genet 55:12-20

    CAS  PubMed  Google Scholar 

  142. Scherer SW, Poorkaj P, Massa H, Soder S, Allen T, Nunes M, Geshuri D, Wong E, Belloni E, Little S et al (1994) Physical mapping of the split hand/split foot locus on chromosome 7 and implication in syndromic ectrodactyly. Hum Mol Genet 3:1345-1354

    Article  CAS  PubMed  Google Scholar 

  143. Schroeder TM, Kahler RA, Li X, Westendorf JJ (2004) Histone deacetylase 3 interacts with runx2 to repress the osteocalcin promoter and regulate osteoblast differentiation. J Biol Chem 279: 41998-42007

    Article  CAS  PubMed  Google Scholar 

  144. Schroeder TM, Nair AK, Staggs R, Lamblin AF, Westendorf JJ (2007) Gene profile analysis of osteoblast genes differentially regulated by histone deacetylase inhibitors. BMC Genomics 8:362

    Article  PubMed  Google Scholar 

  145. Schroeder TM, Westendorf JJ (2005) Histone deacetylase inhibitors promote osteoblast maturation. J Bone Miner Res 20:2254-2263

    Article  CAS  PubMed  Google Scholar 

  146. Segev O, Chumakov I, Nevo Z, Givol D, Madar-Shapiro L, Sheinin Y, Weinreb M, Yayon A (2000) Restrained chondrocyte proliferation and maturation with abnormal growth plate vascularization and ossification in human FGFR-3(G380R) transgenic mice. Hum Mol Genet 9:249-258

    Article  CAS  PubMed  Google Scholar 

  147. Shen J, Hovhannisyan H, Lian JB, Montecino MA, Stein GS, Stein JL, Van Wijnen AJ (2003) Transcriptional induction of the osteocalcin gene during osteoblast differentiation involves acetylation of histones h3 and h4. Mol Endocrinol 17: 743-756

    Article  CAS  PubMed  Google Scholar 

  148. Shen J, Montecino M, Lian JB, Stein GS, Van Wijnen AJ, Stein JL (2002) Histone acetylation in vivo at the osteocalcin locus is functionally linked to vitamin D-dependent, bone tissue-specific transcription. J Biol Chem 277:20284-20292

    Article  CAS  PubMed  Google Scholar 

  149. Shiihara T, Kato M, Kimura T, Hayasaka K, Yamamori S, Ogata T (2004) Craniosynostosis with extra copy of MSX2 in a patient with partial 5q-trisomy. Am J Med Genet A 128A:214-216

    Article  PubMed  Google Scholar 

  150. Shore EM, Ahn J, Jan de Beur S, Li M, Xu M, Gardner RJ, Zasloff MA, Whyte MP, Levine MA, Kaplan FS (2002) Paternally inherited inactivating mutations of the GNAS1 gene in progressive osseous heteroplasia. N Engl J Med 346:99-106

    Article  CAS  PubMed  Google Scholar 

  151. Sierra J, Villagra A, Paredes R, Cruzat F, Gutierrez S, Javed A, Arriagada G, Olate J, Imschenetzky M, Van Wijnen AJ, Lian JB, Stein GS, Stein JL, Montecino M (2003) Regulation of the bone-specific osteocalcin gene by p300 requires Runx2/Cbfa1 and the vitamin D3 receptor but not p300 intrinsic histone acetyltransferase activity. Mol Cell Biol 23:3339-3351

    Article  CAS  PubMed  Google Scholar 

  152. Sims NA, Dupont S, Krust A, Clement-Lacroix P, Minet D, Resche-Rigon M, Gaillard-Kelly M, Baron R (2002) Deletion of estrogen receptors reveals a regulatory role for estrogen receptors-beta in bone remodeling in females but not in males. Bone 30:18-25

    Article  CAS  PubMed  Google Scholar 

  153. So H, Rho J, Jeong D, Park R, Fisher DE, Ostrowski MC, Choi Y, Kim N (2003) Microphthalmia transcription factor and PU.1 synergistically induce the leukocyte receptor osteoclast-associated receptor gene expression. J Biol Chem 278:24209-24216

    Article  CAS  PubMed  Google Scholar 

  154. St-Arnaud R (2008) The direct role of vitamin D on bone homeostasis. Arch Biochem Biophys 473:225-230

    Article  CAS  PubMed  Google Scholar 

  155. Steiner RD, Pepin MG, Byers PH (2005). Osteogene­sis imperfecta. GeneReviews at GeneTests: Medical Information Resource (database online). University of Washington, Seattle

    Google Scholar 

  156. Suda T, Takahashi N, Udagawa N, Jimi E, Gillespie MT, Martin TJ (1999) Modulation of osteoclast differentiation and function by the new members of the tumor necrosis factor receptor and ligand families. Endocr Rev 20:345-357

    Article  CAS  PubMed  Google Scholar 

  157. Surani MA (2001) Reprogramming of genome function through epigenetic inheritance. Nature 414:122-128

    Article  CAS  PubMed  Google Scholar 

  158. Su WC, Kitagawa M, Xue N, Xie B, Garofalo S, Cho J, Deng C, Horton WA, Fu XY (1997) Activation of Stat1 by mutant fibroblast growth-factor receptor in thanatophoric dysplasia type II dwarfism. Nature 386:288-292

    Article  CAS  PubMed  Google Scholar 

  159. Syed F, Khosla S (2005) Mechanisms of sex steroid effects on bone. Biochem Biophys Res Commun 328: 688-696

    Article  CAS  PubMed  Google Scholar 

  160. Tadic T, Dodig M, Erceg I, Marijanovic I, Mina M, Kalajzic Z, Velonis D, Kronenberg MS, Kosher RA, Ferrari D, Lichtler AC (2002) Overexpression of Dlx5 in chicken calvarial cells accelerates osteoblastic differentiation. J Bone Miner Res 17:1008-1014

    Article  CAS  PubMed  Google Scholar 

  161. Takayanagi H (2007) The role of NFAT in osteoclast formation. Ann N Y Acad Sci 1116:227-237

    Article  CAS  PubMed  Google Scholar 

  162. Takayanagi H, Kim S, Koga T, Nishina H, Isshiki M, Yoshida H, Saiura A, Isobe M, Yokochi T, Inoue J, Wagner EF, Mak TW, Kodama T, Taniguchi T (2002) Induction and activation of the transcription factor NFATc1 (NFAT2) integrate RANKL signaling in terminal differentiation of osteoclasts. Dev Cell 3:889-901

    Article  CAS  PubMed  Google Scholar 

  163. Tavormina PL, Shiang R, Thompson LM, Zhu YZ, Wilkin DJ, Lachman RS, Wilcox WR, Rimoin DL, Cohn DH, Wasmuth JJ (1995) Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3. Nat Genet 9:321-328

    Article  CAS  PubMed  Google Scholar 

  164. Teitelbaum SL (2000) Bone resorption by osteoclasts. Science 289:1504-1508

    Article  CAS  PubMed  Google Scholar 

  165. Tondravi MM, McKercher SR, Anderson K, Erdmann JM, Quiroz M, Maki R, Teitelbaum SL (1997) Osteopetrosis in mice lacking haematopoietic transcription factor PU.1. Nature 386:81-84

    Article  CAS  PubMed  Google Scholar 

  166. Traynor J, Agarwal P, Lazzeroni L, Francke U (2002) Gene expression patterns vary in clonal cell cultures from Rett syndrome females with eight different MECP2 mutations. BMC Med Genet 3:12

    Article  PubMed  Google Scholar 

  167. Tudor M, Akbarian S, Chen RZ, Jaenisch R (2002) Transcriptional profiling of a mouse model for Rett syndrome reveals subtle transcriptional changes in the brain. Proc Natl Acad Sci U S A 99: 15536-15541

    Article  CAS  PubMed  Google Scholar 

  168. Udagawa N, Takahashi N, Akatsu T, Tanaka H, Sasaki T, Nishihara T, Koga T, Martin TJ, Suda T (1990) Origin of osteoclasts: mature monocytes and macrophages are capable of differentiating into osteoclasts under a suitable microenvironment prepared by bone marrow-derived stromal cells. Proc Natl Acad Sci U S A 87: 7260-7264

    Article  CAS  PubMed  Google Scholar 

  169. Unger S, Scherer G, Superti-Furga A (2008). Campo­melic dysplasia. GeneReviews at GeneTests: Medical Information Resource (database online). University of Washington, Seattle

    Google Scholar 

  170. Uveges TE, Collin-Osdoby P, Cabral WA, Ledgard F, Goldberg L, Bergwitz C, Forlino A, Osdoby P, Gronowicz GA, Marini JC (2008) Cellular mechanism of decreased bone in Brtl mouse model of OI: imbalance of decreased osteoblast function and increased osteoclasts and their precursors. J Bone Miner Res 23:1983-1994

    Article  CAS  PubMed  Google Scholar 

  171. Vaes BL, Ducy P, Sijbers AM, Hendriks JM, van Someren EP, de Jong NG, van den Heuvel ER, Olijve W, van Zoelen EJ, Dechering KJ (2006) Microarray analysis on Runx2-deficient mouse embryos reveals novel Runx2 functions and target genes during intramembranous and endochondral bone formation. Bone 39:724-738

    Article  CAS  PubMed  Google Scholar 

  172. Valero C, Zarrabeitia MT, Hernandez JL, Zarrabeitia A, Gonzalez-Macias J, Riancho JA (2005) Bone mass in young adults: relationship with gender, weight and genetic factors. J Intern Med 258:554-562

    Article  CAS  PubMed  Google Scholar 

  173. Vanderschueren D, Vandenput L, Boonen S, Lindberg MK, Bouillon R, Ohlsson C (2004) Androgens and bone. Endocr Rev 25:389-425

    Article  CAS  PubMed  Google Scholar 

  174. Villagra A, Gutierrez J, Paredes R, Sierra J, Puchi M, Imschenetzky M, Wijnen Av A, Lian J, Stein G, Stein J, Montecino M (2002) Reduced CpG methylation is associated with transcriptional activation of the bone-specific rat osteocalcin gene in osteoblasts. J Cell Biochem 85:112-122

    Article  CAS  PubMed  Google Scholar 

  175. Wang JC, Steinraths M, Dang L, Lomax B, Eydoux P, Stockley T, Yong SL, Van Allen MI (2007) Craniosynostosis associated with distal 5q-trisomy: further evidence that extra copy of MSX2 gene leads to craniosynostosis. Am J Med Genet A 143A:2931-2936

    Article  PubMed  Google Scholar 

  176. Weinstein LS, Yu S, Warner DR, Liu J (2001) Endocrine manifestations of stimulatory G protein alpha-subunit mutations and the role of genomic imprinting. Endocr Rev 22:675-705

    Article  CAS  PubMed  Google Scholar 

  177. Whyte MP (2006) Paget’s disease of bone and genetic disorders of RANKL/OPG/RANK/NF-kappaB signaling. Ann N Y Acad Sci 1068: 143-164

    Article  CAS  PubMed  Google Scholar 

  178. Williamson CM, Ball ST, Nottingham WT, Skinner JA, Plagge A, Turner MD, Powles N, Hough T, Papworth D, Fraser WD, Maconochie M, Peters J (2004) A cis-acting control region is required exclusively for the tissue-specific imprinting of Gnas. Nat Genet 36:894-899

    Article  CAS  PubMed  Google Scholar 

  179. Williamson CM, Turner MD, Ball ST, Nottingham WT, Glenister P, Fray M, Tymowska-Lalanne Z, Plagge A, Powles-Glover N, Kelsey G, Maconochie M, Peters J (2006) Identification of an imprinting control region affecting the expression of all transcripts in the Gnas cluster. Nat Genet 38:350-355

    Article  CAS  PubMed  Google Scholar 

  180. Willing MC, Deschenes SP, Slayton RL, Roberts EJ (1996) Premature chain termination is a unifying mechanism for COL1A1 null alleles in osteogenesis imperfecta type I cell strains. Am J Hum Genet 59:799-809

    CAS  PubMed  Google Scholar 

  181. Wilson LC, Hall CM (2002) Albright’s hereditary osteodystrophy and pseudohypoparathyroidism. Semin Muscu­loskelet Radiol 6:273-283

    Article  PubMed  Google Scholar 

  182. Wroe SF, Kelsey G, Skinner JA, Bodle D, Ball ST, Beechey CV, Peters J, Williamson CM (2000) An imprinted transcript, antisense to Nesp, adds complexity to the cluster of imprinted genes at the mouse Gnas locus. Proc Natl Acad Sci U S A 97: 3342-3346

    Article  CAS  PubMed  Google Scholar 

  183. Yasui DH, Peddada S, Bieda MC, Vallero RO, Hogart A, Nagarajan RP, Thatcher KN, Farnham PJ, Lasalle JM (2007) Integrated epigenomic analyses of neuronal MeCP2 reveal a role for long-range interaction with active genes. Proc Natl Acad Sci U S A 104:19416-19421

    Article  CAS  PubMed  Google Scholar 

  184. Yavropoulou MP, Yovos JG (2008) Osteoclastogenesis - current knowledge and future perspectives. J Musculo­skelet Neuronal Interact 8:204-216

    CAS  PubMed  Google Scholar 

  185. Yousfi M, Lasmoles F, Marie PJ (2002) TWIST inactivation reduces CBFA1/RUNX2 expression and DNA binding to the osteocalcin promoter in osteoblasts. Biochem Biophys Res Commun 297:641-644

    Article  CAS  PubMed  Google Scholar 

  186. Zak BM, Crawford BE, Esko JD (2002) Hereditary multiple exostoses and heparan sulfate polymerization. Biochim Biophys Acta 1573:346-355

    CAS  PubMed  Google Scholar 

  187. Zhou G, Zheng Q, Engin F, Munivez E, Chen Y, Sebald E, Krakow D, Lee B (2006) Dominance of SOX9 function over RUNX2 during skeletogenesis. Proc Natl Acad Sci U S A 103:19004-19009

    Article  CAS  PubMed  Google Scholar 

  188. Zhou Z, Han JY, Xi CX, Xie JX, Feng X, Wang CY, Mei L, Xiong WC (2008) HMGB1 regulates RANKL-induced osteoclastogenesis in a manner dependent on RAGE. J Bone Miner Res 23:1084-1096

    Article  CAS  PubMed  Google Scholar 

  189. Zhou Z, Immel D, Xi CX, Bierhaus A, Feng X, Mei L, Nawroth P, Stern DM, Xiong WC (2006) Regulation of osteoclast function and bone mass by RAGE. J Exp Med 203:1067-1080

    Article  CAS  PubMed  Google Scholar 

  190. Zysman L, Lotan M, Ben-Zeev B (2006) Osteoporosis in Rett syndrome: a study on normal values. Scientific World J 6:1619-1630

    CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Biological Sciences, University of Delaware, Newark, DE, USA

    Rose D. O’Connor

  2. Department of Biochemistry and Cell Biology, Rice University, Houston, TX, USA

    Mary C. Farach-Carson

  3. Nemours Biomedical Research A. I. duPont Hospital for Children, Wilmington, DE, USA

    N. Carolyn Schanen

Authors
  1. Rose D. O’Connor
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Mary C. Farach-Carson
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. N. Carolyn Schanen
    View author publications

    You can also search for this author in PubMed Google Scholar

Editor information

Editors and Affiliations

  1. Health Center, University of Connecticut, Farmington Ave. 263, Farmington, 06030-6125, USA

    Felix Bronner

  2. Dept. Biological Sciences, University of Delaware, Newark, 19716, USA

    Mary C. Farach-Carson

  3. IDS Building, MP887, Bone & Joint Research Group, Tremona Road, Southampton, SO16 6YD, United Kingdom

    H.I (Trudy) Roach

Rights and permissions

Reprints and permissions

Copyright information

© 2010 Springer-Verlag London

About this chapter

Cite this chapter

O’Connor, R.D., Farach-Carson, M.C., Schanen, N.C. (2010). Genetic and Epigenetic Aspects of Bone Development. In: Bronner, F., Farach-Carson, M., Roach, H. (eds) Bone and Development. Topics in Bone Biology, vol 6. Springer, London. https://doi.org/10.1007/978-1-84882-822-3_1

Download citation

  • DOI: https://doi.org/10.1007/978-1-84882-822-3_1

  • Published:

  • Publisher Name: Springer, London

  • Print ISBN: 978-1-84882-821-6

  • Online ISBN: 978-1-84882-822-3

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics

Search

Navigation