Altered expression of the septin gene, SEPT9, in ovarian neoplasia

J Pathol. 2003 Dec;201(4):581-8. doi: 10.1002/path.1484.


The septin family of genes has been implicated in a variety of cellular processes including cytokinesis, membrane transport and fusion, exocytosis, and apoptosis. One member of the septin family maps to chromosome 17q25.3, a region commonly deleted in sporadic ovarian and breast tumours, and has also been identified as a fusion partner of MLL in acute myeloid leukaemias. The present study demonstrates that the pattern of expression of multiple splice variants of this septin gene is altered in ovarian tumours and cell lines. In particular, expression of the zeta transcript is detectable in the majority of tumours and cell lines, but not in a range of non-malignant adult and fetal tissues. Zeta expression is accompanied by loss of the ubiquitous beta transcript. Somatic mutations of the gene were not detected in ovarian tumours, but it was demonstrated that beta expression in tumour cell lines can be reactivated by 5-azacytidine treatment, suggesting a role for methylation in the control of expression of this gene.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Azacitidine / pharmacology
  • Base Sequence
  • Cell Line, Tumor
  • DNA, Circular / analysis
  • Female
  • Fetus
  • GTP Phosphohydrolases / analysis*
  • Gene Expression Regulation, Neoplastic / genetics
  • Humans
  • Methylation
  • Mutation
  • Ovarian Neoplasms / genetics
  • Ovarian Neoplasms / metabolism*
  • Protein Splicing / genetics
  • RNA, Messenger / analysis
  • RNA, Neoplasm / analysis
  • Reverse Transcriptase Polymerase Chain Reaction / methods
  • Septins
  • Transcription, Genetic / genetics


  • DNA, Circular
  • RNA, Messenger
  • RNA, Neoplasm
  • GTP Phosphohydrolases
  • SEPTIN9 protein, human
  • Septins
  • Azacitidine