Dysregulation of Chondrogenesis in Human Cleidocranial Dysplasia

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Dysregulation of Chondrogenesis in Human Cleidocranial Dysplasia Qiping Zheng, Eiman Sebald, Guang Zhou, Yuqing Chen, William Wilcox, Brendan Lee, Deborah Krakow The American Journal of Human Genetics Volume 77, Issue 2, Pages 305-312 (August 2005) DOI: 10.1086/432261 Copyright © 2005 The American Society of Human Genetics Terms and Conditions

Figure 1 Molecular and histological analyses of a fetus with CCD. A, Sequencing of exon 9 of RUNX2 alleles shows the mutant allele with a C insertion in the PST domain (1228insC) and the wild-type allele (WT). The relative position of this mutation is shown in the schematic representation of the RUNX2 structure. Q/A = polyglutamine/polyalanine domain; RUNT = DNA-binding runt domain. B, Von Kossa staining and immunohistochemical analysis of the CCD rib cartilage. For an age-matched control fetal rib section (Ctrl), Von Kossa histological analysis shows a normal hypertrophic zone (top left panel), and type X collagen immunostaining exhibits normal extracellular staining of type X collagen in the hypertrophic zone (arrowheads in bottom left panel). Separation of primary spongiosa is an artifact of tissue preparation. For the rib section from the fetus with CCD, Von Kossa staining shows a much shortened hypertrophic zone (top right panel), and type X collagen immunostaining shows flattened hypertrophic chondrocytes, with both reduced and asymmetric type X collagen expression within the compressed hypertrophic zone (arrowheads in bottom right panel). HZ = hypertrophic zone of growth plate. The American Journal of Human Genetics 2005 77, 305-312DOI: (10.1086/432261) Copyright © 2005 The American Society of Human Genetics Terms and Conditions

Figure 2 Hematoxylin and eosin staining and immunohistochemical analysis of the CCD and control femur sections. For the age-matched control femur section (Ctrl), histological analysis shows a normal hypertrophic zone (top left panel), and type X collagen immunostaining exhibits normal extracelluar staining of type X collagen (arrowheads in bottom left panel) in the hypertrophic zone. For the femur section from the fetus with CCD, hematoxylin and eosin staining shows a much shortened hypertrophic zone (top right panel), and type X collagen immunostaining shows flattened hypertrophic chondrocytes with reduced type X collagen expression within the compressed hypertrophic zone (bottom right panel). HZ = hypertrophic zone of growth plate. The American Journal of Human Genetics 2005 77, 305-312DOI: (10.1086/432261) Copyright © 2005 The American Society of Human Genetics Terms and Conditions

Figure 3 Von Kossa staining and immunohistochemical analysis of the CCD and control rib cartilage sections. For the age-matched fetal rib section control (CTRL), Von Kossa histological analysis (original magnification, 10×) shows a normal hypertrophic zone (A) (top left panel), and type X collagen immunostaining exhibits normal extracelluar staining of type X collagen (B) (arrowheads in bottom left panel) in the hypertrophic zone (40×). Separation of primary spongiosa is an artifact of tissue preparation. For the rib section from the fetus with CCD, Von Kossa staining shows a much shortened hypertrophic zone (10×) (C) (top right panel), and type X collagen immunostaining (40×) shows flattened hypertrophic chondrocytes with both reduced and asymmetric pericellular type X collagen expression within the compressed hypertrophic zone (bottom right panel). HZ = hypertrophic zone of growth plate. The American Journal of Human Genetics 2005 77, 305-312DOI: (10.1086/432261) Copyright © 2005 The American Society of Human Genetics Terms and Conditions

Figure 4 Real-time RT-PCR analysis of genes expressed in limb cartilage. Amplification was performed on a LightCycler (Fast Start DNA Master SYBR Green I [Roche Diagnostics]). Analysis of the results (i.e., the relative gene expression level) was achieved by normalization to GAPDH and by comparison with the age-matched control for fold induction. A, The mRNA level of RUNX2 is decreased by 50% in the fetus with CCD, compared with the control. B, C, and D, The hypertrophic chondrocyte–related molecular markers COL10A1, MMP-13, and VEGF showed 10-, 7.6-, and 8-fold decreases in mRNA levels, respectively. E, No change in mRNA level was observed for RUNX1. F, RUNX3 showed 4-fold up-regulation in fetus with CCD, compared with the age-matched control. Each real-time RT-PCR experiment was performed in triplicate, and one representative set of results is presented here, with SDs shown by error bars. Ctrl = age-matched control. The American Journal of Human Genetics 2005 77, 305-312DOI: (10.1086/432261) Copyright © 2005 The American Society of Human Genetics Terms and Conditions