M6P/IGF2R gene is mutated in human hepatocellular carcinomas with loss of heterozygosity.

De Souza AT, Hankins GR, Washington MK, Orton TC, Jirtle RL
Nat Genet. 1995 11 (4): 447-9

PMID: 7493029 · DOI:10.1038/ng1295-447

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.

MeSH Terms (17)

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

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