• 1
    Marks SC, Hermey DC. The structure and development of bone. In: Bilezikian JP, Raisz LG, Rodan GA, editors. Principles of bone biology. San Diego: Academic Press; 1996. p. 314.
  • 2
    Arias J, Nakamura O, Fernández M, Wu J, Knigge P, Eyre D, Caplan A. Role of type X collagen on experimental mineralization of eggshell membranes. Connect Tissue Res. 1997; 36: 2133.
  • 3
    Kwan KM, Pang MK, Zhou S, Cowan SK, Kong RY, Pfordte T, Olsen BR, Sillence DO, Tam PP, Cheah KS. Abnormal compartmentalization of cartilage matrix components in mice lacking collagen X: implications for function. J Cell Biol. 1997; 136: 45971.
  • 4
    Jacenko O, LuValle PA, Olsen BR. Spondylometaphyseal dysplasia in mice carrying a dominant negative mutation in a matrix protein specific for cartilage-to-bone transition. Nature. 1993; 365: 5661.
  • 5
    Ikegawa S, Nishimura G, Nagai T, Hasegawa T, Ohashi H, Nakamura Y. Mutation of the type X collagen gene (COL10A1) causes spondylometaphyseal dysplasia. Am J Hum Genet. 1998; 63: 165962.
  • 6
    Tchetina EV, Kobayashi M, Yasuda T, Meijers T, Pidoux I, Poole AR. Chondrocyte hypertrophy can be induced by a cryptic sequence of type II collagen and is accompanied by the induction of MMP-13 and collagenase activity: implications for development and arthritis. Matrix Biol. 2007; 26: 24758.
  • 7
    Higashikawa A, Saito T, Ikeda T, Kamekura S, Kawamura N, Kan A, Oshima Y, Ohba S, Ogata N, Takeshita K, Nakamura K, Chung U, Kawaguchi H. Identification of the core element responsive to runt-related transcription factor 2 in the promoter of human type X collagen gene. Arthritis Rheum. 2009; 60: 16678.
  • 8
    Saito T, Fukai A, Mabuchi A, Ikeda T, Yano F, Ohba S, Nishida N, Akune T, Yoshimura N, Nakagawa T, Nakamura K, Tokunaga K, Chung U, Kawaguchi H. Transcriptional regulation of endochondral ossification by HIF-2alpha during skeletal growth and osteoarthritis development. Nat Med. 2010; 16: 67886.
  • 9
    Lamas J, Rodríguez-Rodríguez L, Vigo A, Alvarez-Lafuente R, López-Romero P, Marco F, Camafeita E, Dopazo A, Callejas S, Villafuertes E, Hoyas J, Tornero-Esteban M, Urcelay E, Fernández-Gutiérrez B. Large-scale gene expression in bone marrow mesenchymal stem cells: a putative role for COL10A1 in osteoarthritis. Ann Rheum Dis. 2010; 69: 18805.
  • 10
    Grant W, Wang G, Balian G. Type X collagen synthesis during endochondral ossification in fracture repair. J Biol Chem. 1987; 262: 98449.
  • 11
    von der Mark K, Kirsch T, Nerlich A, Kuss A, Weseloh G, Gluckert K, Stoss H. Type X collagen synthesis in human osteoarthritic cartilage. Indication of chondrocyte hypertrophy. Arthritis Rheum. 1992; 35: 80611.
  • 12
    von der Mark K, Frischholz S, Aigner T, Beier F, Belke J, Erdmann S, Burkhardt H. Upregulation of type X collagen expression in osteoarthritic cartilage. Acta Orthop Scand Suppl. 1995; 266: 1259.
  • 13
    Pullig O, Weseloh G, Ronneberger D, Kakonen S, Swoboda B. Chondrocyte differentiation in human osteoarthritis: expression of osteocalcin in normal and osteoarthritic cartilage and bone. Calcif Tissue Int. 2000; 67: 23040.
  • 14
    Drissi H, Zuscik M, Rosier R, O'Keefe R. Transcriptional regulation of chondrocyte maturation: potential involvement of transcription factors in OA pathogenesis. Mol Aspects Med. 2005; 26: 16979.
  • 15
    Zheng Q, Zhou G, Morello R, Chen Y, Garcia-Rojas X, Lee B. Type X collagen gene regulation by Runx2 contributes directly to its hypertrophic chondrocyte-specific expression in vivo . J Cell Biol. 2003; 162: 83342.
  • 16
    Zheng Q, Keller B, Zhou G, Napierala D, Chen Y, Zabel B, Parker A, Lee B. Localization of the cis-enhancer element for mouse type X collagen expression in hypertrophic chondrocytes in vivo. J Bone Miner Res. 2009; 24: 102232.
  • 17
    Weinmann A, Farnham P. Identification of unknown target genes of human transcription factors using chromatin immunoprecipitation. Methods. 2002; 26: 3747.
  • 18
    Livak KJ, Schmittgen TD. Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) method. Methods. 2001; 25: 4028.
  • 19
    Pfaffl MW. A new mathematical model for relative quantification in real-time RT-PCR. Nucleic Acids Res. 2001; 29: e45.
  • 20
    Lefebvre V, Garofalo S, de Crombrugghe B. Type X collagen gene expression in mouse chondrocytes immortalized by a temperature-sensitive simian virus 40 large tumor antigen. J Cell Biol. 1995; 128: 23945.
  • 21
    Zhou G, Garofalo S, Mukhopadhyay K, Lefebvre V, Smith CN, Eberspaecher H, Decrombrugghe B. A 182 bp fragment of the mouse pro-alpha-1(II) collagen gene is sufficient to direct chondrocyte expression in transgenic mice. J Cell Sci. 1995; 108: 367784.
  • 22
    Zhou G, Chen Y, Zhou L, Thirunavukkarasu K, Hecht J, Chitayat D, Gelb BD, Pirinen S, Berry SA, Greenberg CR, Karsenty G, Lee B. CBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasia. Hum Mol Genet. 1999; 8: 23116.
  • 23
    Agueda L, Bustamante M, Jurado S, Garcia-Giralt N, Ciria M, Saló G, Carreras R, Nogués X, Mellibovsky L, Díez-Pérez A, Grinberg D, Balcells S. A haplotype-based analysis of the LRP5 gene in relation to osteoporosis phenotypes in Spanish postmenopausal women. J Bone Miner Res. 2008; 23: 195463.
  • 24
    Drissi H, Li X, Sheu T, Zuscik M, Schwarz E, Puzas E, Rosier R, O'Keefe R. Runx2/Cbfa1 stimulation by retinoic acid is potentiated by BMP2 signaling through interaction with Smad1 on the collagen X promoter in chondrocytes. J Cell Biochem. 2003; 90: 128798.
  • 25
    Dong Y, Soung doY, Schwarz M, O'Keefe R, Drissi H. Wnt induction of chondrocyte hypertrophy through the Runx2 transcription factor. J Cell Physiol. 2006; 208: 7786.
  • 26
    Simões B, Conceição N, Viegas C, Pinto J, Gavaia P, Hurst L, Kelsh R, Cancela M. Identification of a promoter element within the zebrafish colXalpha1 gene responsive to runx2 isoforms Osf2/Cbfa1 and til-1 but not to pebp2alphaA2. Calcif Tissue Int. 2006; 79: 23044.
  • 27
    Long F, Linsenmayer TF. Tissue-specific regulation of the type X collagen gene, Analyses by in vivo footprinting and transfection with a proximal promoter region. J Biol Chem. 1995; 270: 3131014.
  • 28
    Beier F, Lammi MJ, Bertling W, von der Mark K. Transcriptional regulation of the human type X collagen gene expression. Ann N Y Acad Sci. 1996; 785: 20911.
  • 29
    Dourado G, LuValle P. Proximal DNA elements mediate repressor activity conferred by the distal portion of the chicken collagen X promoter. J Cell Biochem. 1998; 70: 50716.
  • 30
    Chambers D, Young DA, Howard C, Thomas JT, Boam DS, Grant ME, Wallis GA, Boot-Handford RP. An enhancer complex confers both high-level and cell-specific expression of the human type X collagen gene. FEBS Lett. 2002; 531: 5058.
  • 31
    Riemer S, Gebhard S, Beier F, Poschl E, Von Der Mark K. Role of c-fos in the regulation of type X collagen gene expression by PTH and PTHrP: Localization of a PTH/PTHrP-responsive region in the human COL10A1 enhancer. J Cell Biochem. 2002; 86: 68899.
  • 32
    Gebhard S, Poschl E, Riemer S, Bauer E, Hattori T, Eberspaecher H, Zhang Z, Lefebvre V, de Crombrugghe B, von der Mark K. A highly conserved enhancer in mammalian type X collagen genes drives high levels of tissue-specific expression in hypertrophic cartilage in vitro and in vivo . Matrix Biol. 2004; 23: 30922.
  • 33
    Ijiri K, Zerbini LF, Peng H, Correa RG, Lu B, Walsh N, Zhao Y, Taniguchi N, Huang XL, Otu H, Wang H, Fei Wang J, Komiya S, Ducy P, Rahman MU, Flavell RA, Libermann TA, Goldring MB. A novel role for GADD45beta as a mediator of MMP-13 gene expression during chondrocyte terminal differentiation. J Biol Chem. 2005; 280: 3854455.
  • 34
    Arnold M, Kim Y, Czubryt M, Phan D, McAnally J, Qi X, Shelton J, Richardson J, Bassel-Duby R, Olson E. MEF2C transcription factor controls chondrocyte hypertrophy and bone development. Dev Cell. 2007; 12: 37789.
  • 35
    Heinemeyer T, Wingender E, Reuter I, Hermjakob H, Kel A, Kel O, Ignatieva E, Ananko E, Podkolodnaya O, Kolpakov F, Podkolodny N, Kolchanov N. Databases on transcriptional regulation: TRANSFAC, TRRD and COMPEL. Nucleic Acids Res. 1998; 26: 3627.
  • 36
    Loots GG, Ovcharenko I. rVISTA 2.0: evolutionary analysis of transcription factor binding sites. Nucleic Acids Res. 2004; 32: W21721.
  • 37
    Markovics JA, Araya J, Cambier S, Jablons D, Hill A, Wolters PJ, Nishimura SL. Transcription of the transforming growth factor beta activating integrin beta8 subunit is regulated by SP3, AP-1, and the p38 pathway. J Biol Chem. 2010; 285: 24695706.
  • 38
    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. Targeted disruption of Cbfa1 results in a complete lack of bone formation owing to maturational arrest of osteoblasts. Cell. 1997; 89: 75564.
  • 39
    Otto F, Thornell AP, Crompton T, Denzel A, Gilmour KC, Rosewell IR, Stamp GW, Beddington RS, Mundlos S, Olsen BR, Selby PB, Owen MJ. Cbfa1, a candidate gene for cleidocranial dysplasia syndrome, is essential for osteoblast differentiation and bone development. Cell. 1997; 89: 76571.
  • 40
    Kim IS, Otto F, Zabel B, Mundlos S. Regulation of chondrocyte differentiation by Cbfa1. Mech Dev. 1999; 80: 15970.
  • 41
    Inada M, Yasui T, Nomura S, Miyake S, Deguchi K, Himeno M, Sato M, Yamagiwa H, Kimura T, Yasui N, Ochi T, Endo N, Kitamura Y, Kishimoto T, Komori T. Maturational disturbance of chondrocytes in Cbfa1-deficient mice. Dev Dyn. 1999; 214: 27990.
  • 42
    Takeda S, Bonnamy JP, Owen MJ, Ducy P, Karsenty G. Continuous expression of Cbfa1 in nonhypertrophic chondrocytes uncovers its ability to induce hypertrophic chondrocyte differentiation and partially rescues Cbfa1-deficient mice. Genes Dev. 2001; 15: 46781.
  • 43
    Hinoi E, Bialek P, Chen YT, Rached MT, Groner Y, Behringer RR, Ornitz DM, Karsenty G. Runx2 inhibits chondrocyte proliferation and hypertrophy through its expression in the perichondrium. Genes Dev. 2006; 20: 293742.
  • 44
    Zheng Q, Sebald E, Zhou G, Chen Y, Wilcox W, Lee B, Krakow D. Dysregulation of chondrogenesis in human cleidocranial dysplasia. Am J Hum Genet. 2005; 77: 30512.
  • 45
    Kamekura S, Kawasaki Y, Hoshi K, Shimoaka T, Chikuda H, Maruyama Z, Komori T, Sato S, Takeda S, Karsenty G, Nakamura K, Chung UI, Kawaguchi H. Contribution of runt-related transcription factor 2 to the pathogenesis of osteoarthritis in mice after induction of knee joint instability. Arthritis Rheum. 2006; 54: 246270.
  • 46
    Tu Q, Zhang J, James L, Dickson J, Tang J, Yang P, Chen J. Cbfa1/Runx2-deficiency delays bone wound healing and locally delivered Cbfa1/Runx2 promotes bone repair in animal models. Wound Repair Regen. 2007; 15: 40412.