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Home » People » Faculty/Experts »  Randy L. Jirtle

Publications [#134812] of Randy L. Jirtle

Papers Published

  1. AT De Souza, GR Hankins, MK Washington, TC Orton, RL Jirtle, M6P/IGF2R gene is mutated in human hepatocellular carcinomas with loss of heterozygosity., Nature genetics, UNITED STATES, vol. 11 no. 4 (December, 1995), pp. 447-9, ISSN 1061-4036
    (last updated on 2003/09/18)

    Abstract:
    The mannose 6-phosphate/insulin-like growth factor-II receptor (M6P/IGF2R) functions in the intracellular trafficking of lysosomal enzymes, the activation of the potent growth inhibitor, transforming growth factor beta 2, and the degradation of IGF2 (ref. 1), a mitogen often overproduced in tumours. We have recently shown that 70% of human hepatocellular tumours have loss of heterozygosity (LOH) at the M6P/IGF2R locus which maps to chromosome 6q26-q27 (ref. 8). Using a coarse screen, we have now identified point mutations in the remaining allele of 25% of human hepatocellular carcinomas (HCCs) with LOH. These mutations give rise to truncated receptor protein and significant amino acid substitutions, and provide evidence that the M6P/IGF2R gene functions as a tumour suppressor in human liver carcinogenesis.

    Keywords:
    Alternative Splicing • Amino Acid Sequence • Animals • Base Sequence • Carcinoma, Hepatocellular • Cattle • DNA Mutational Analysis • Extracellular Space • Genes, Tumor Suppressor • Heterozygote* • Humans • Liver Neoplasms • Mice • Molecular Sequence Data • Point Mutation* • Rats • Receptor, IGF Type 2 • analysis • chemistry • genetics • genetics*