South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde, Jan 5, 1987
The Department of Human Genetics, University of Cape Town, has accumulated data on more than 11,0... more The Department of Human Genetics, University of Cape Town, has accumulated data on more than 11,000 individuals with inherited disorders seen over the last 15 years. Clinical and radiographic data on these persons and their families have been documented and where appropriate they have been investigated in our genetic laboratories. In accordance with current trends, a molecular genetic laboratory has been developed. The approach to South African genetic disease using recombinant DNA techniques is described.
International Journal of Experimental Pathology, 2005
Page 1. British Society for Matrix Biology Autumn Meeting Joint with the UK Tissue &a... more Page 1. British Society for Matrix Biology Autumn Meeting Joint with the UK Tissue & Cell Engineering Society, University of Bristol, UK Cell-based therapies Laure Sudre and Frank Cheung The autumn 2004 meeting of the BSMB ...
Type X collagen is a homotrimeric, short-chain, nonfibrillar extracellular-matrix component that ... more Type X collagen is a homotrimeric, short-chain, nonfibrillar extracellular-matrix component that is specifically and transiently synthesized by hypertrophic chondrocytes at the sites of endochondral ossification. The precise function of type X collagen is not known, but its specific pattern of expression suggests that mutations within the encoding gene (COL10A1) that alter the structure or synthesis of the protein may cause heritable forms of chondrodysplasia. We used the PCR and the SSCP techniques to analyze the coding and upstream promoter regions of the COL10A1 gene in a number of individuals with forms of chondrodysplasia. Using this approach, we identified two individuals with metaphyseal chondrodysplasia type Schmid (MCDS) with SSCP changes in the region of the gene encoding the carboxyl-terminal domain. Sequence analysis demonstrated that the individuals were heterozygous for two unique single-base-pair transitions that led to the substitution of the highly conserved amino a...
Joint formation begins with the establishment of an interzone within the cartilaginous anlagen of... more Joint formation begins with the establishment of an interzone within the cartilaginous anlagen of the future skeleton. Both GDF5 and ERG are proposed as regulators of chondrocyte differentiation during and post interzone formation. The aim of this study was to examine the relationship between Gdf5 and Erg expression and downstream effects on chondrocyte gene expression. Erg expression was identified in mouse knee joints at E13.5. Expression analyses were performed using micromass cultures of murine C3H10T1/2 mesenchymal cells undergoing induced chondrogenesis in the presence and absence of GDF5 and ERG. At E13.5, Erg expression was found to surround epiphyseal chondrocytes and span the interzone up to the intermediate zone. Erg splice forms were expressed in micromass cultures, and their expression profile was altered by the addition of recombinant GDF5 depending on the stage of differentiation. Overexpression of Erg-010 resulted in a downregulation of Col2a1 and Col10a1. Microarray analysis following Erg-010 overexpression identified two potential downstream targets, Ube2b and Osr2, which were also differentially regulated by GDF5. Erg regulation by GDF5 in induced mesenchymal cells in vitro is dependent on the stage of chondrogenesis, and its expression in vivo demarcates chondrocytes that are not destined to be consumed by endochondral ossification. Functionally, Erg expression causes downregulation of Col2a1 and Col10a1 expression and this effect is potentially mediated by Osr2 and/or Ube2b. Combined, these data suggest a possible pathway linking GDF5, ERG and downstream factors in the processes of chondrocyte differentiation during articular joint formation.
South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde, Jan 5, 1987
The Department of Human Genetics, University of Cape Town, has accumulated data on more than 11,0... more The Department of Human Genetics, University of Cape Town, has accumulated data on more than 11,000 individuals with inherited disorders seen over the last 15 years. Clinical and radiographic data on these persons and their families have been documented and where appropriate they have been investigated in our genetic laboratories. In accordance with current trends, a molecular genetic laboratory has been developed. The approach to South African genetic disease using recombinant DNA techniques is described.
International Journal of Experimental Pathology, 2005
Page 1. British Society for Matrix Biology Autumn Meeting Joint with the UK Tissue &a... more Page 1. British Society for Matrix Biology Autumn Meeting Joint with the UK Tissue & Cell Engineering Society, University of Bristol, UK Cell-based therapies Laure Sudre and Frank Cheung The autumn 2004 meeting of the BSMB ...
Type X collagen is a homotrimeric, short-chain, nonfibrillar extracellular-matrix component that ... more Type X collagen is a homotrimeric, short-chain, nonfibrillar extracellular-matrix component that is specifically and transiently synthesized by hypertrophic chondrocytes at the sites of endochondral ossification. The precise function of type X collagen is not known, but its specific pattern of expression suggests that mutations within the encoding gene (COL10A1) that alter the structure or synthesis of the protein may cause heritable forms of chondrodysplasia. We used the PCR and the SSCP techniques to analyze the coding and upstream promoter regions of the COL10A1 gene in a number of individuals with forms of chondrodysplasia. Using this approach, we identified two individuals with metaphyseal chondrodysplasia type Schmid (MCDS) with SSCP changes in the region of the gene encoding the carboxyl-terminal domain. Sequence analysis demonstrated that the individuals were heterozygous for two unique single-base-pair transitions that led to the substitution of the highly conserved amino a...
Joint formation begins with the establishment of an interzone within the cartilaginous anlagen of... more Joint formation begins with the establishment of an interzone within the cartilaginous anlagen of the future skeleton. Both GDF5 and ERG are proposed as regulators of chondrocyte differentiation during and post interzone formation. The aim of this study was to examine the relationship between Gdf5 and Erg expression and downstream effects on chondrocyte gene expression. Erg expression was identified in mouse knee joints at E13.5. Expression analyses were performed using micromass cultures of murine C3H10T1/2 mesenchymal cells undergoing induced chondrogenesis in the presence and absence of GDF5 and ERG. At E13.5, Erg expression was found to surround epiphyseal chondrocytes and span the interzone up to the intermediate zone. Erg splice forms were expressed in micromass cultures, and their expression profile was altered by the addition of recombinant GDF5 depending on the stage of differentiation. Overexpression of Erg-010 resulted in a downregulation of Col2a1 and Col10a1. Microarray analysis following Erg-010 overexpression identified two potential downstream targets, Ube2b and Osr2, which were also differentially regulated by GDF5. Erg regulation by GDF5 in induced mesenchymal cells in vitro is dependent on the stage of chondrogenesis, and its expression in vivo demarcates chondrocytes that are not destined to be consumed by endochondral ossification. Functionally, Erg expression causes downregulation of Col2a1 and Col10a1 expression and this effect is potentially mediated by Osr2 and/or Ube2b. Combined, these data suggest a possible pathway linking GDF5, ERG and downstream factors in the processes of chondrocyte differentiation during articular joint formation.
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Papers by G. Wallis