Mutation analysis of p31comet gene, a negative regulator of Mad2, in human hepatocellular carcinoma

Exp Mol Med. 2007 Aug 31;39(4):508-13. doi: 10.1038/emm.2007.56.

Abstract

Failure of mitotic checkpoint machinery leads to the chromosomal missegregation and nuclear endoreduplication, thereby driving the emergence of aneuploidy and tetraploidy population. Although abnormal nuclear ploidy and the resulting impairment of mitotic checkpoint function are typical physiological event leading to human hepatocellular carcinoma, any mutational change of mitotic checkpoint regulators has not yet been discovered. Therefore, we investigated the mutation of p31(comet), a recently identified mitotic checkpoint regulator, in human hepatocellular carcinoma. Of 51 human hepatocellular carcinoma tissue and 6 cell lines tested, five samples exhibited nucleotide sequence variations dispersed on four sites within the entire coding sequence. Among these sites with sequence substitutions, three were found to be missense mutation accompanied with amino acid change but one was a silent mutation. Of these sequence substitutions, two were present in both tumor and non-tumor liver tissues, suggesting the possibility of polymorphism. The present findings indicate that p31(comet) does not have an impact on the formation of aneuploidy and tetraploidy found in human hepatocellular carcinoma.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adaptor Proteins, Signal Transducing
  • Calcium-Binding Proteins / metabolism*
  • Carcinoma, Hepatocellular / genetics
  • Carcinoma, Hepatocellular / metabolism*
  • Carrier Proteins / genetics*
  • Carrier Proteins / metabolism
  • Cell Cycle Proteins / genetics*
  • Cell Cycle Proteins / metabolism*
  • Cell Line, Tumor
  • Humans
  • Liver Neoplasms / genetics
  • Liver Neoplasms / metabolism*
  • Mad2 Proteins
  • Mutation*
  • Nuclear Proteins
  • Polyploidy
  • Repressor Proteins / metabolism*

Substances

  • Adaptor Proteins, Signal Transducing
  • Calcium-Binding Proteins
  • Carrier Proteins
  • Cell Cycle Proteins
  • MAD2L1 protein, human
  • MAD2L1BP protein, human
  • Mad2 Proteins
  • Nuclear Proteins
  • Repressor Proteins