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Mutational inactivation of STAG2 causes aneuploidy in human cancer

David A Solomon1, Taeyeon Kim, Laura A Diaz-Martinez

  • 1Department of Oncology, Lombardi Comprehensive Cancer Center, Georgetown University School of Medicine, Washington, DC 20057, USA.

Science (New York, N.Y.)
|August 20, 2011
PubMed

Insights

Cancer cells often have abnormal chromosome numbers (aneuploidy). Researchers found that mutations in the STAG2 gene disrupt chromosome separation, causing aneuploidy in various human tumors.

Area of Science:

  • Genomics
  • Cancer Biology
  • Cell Division

Background:

  • Aneuploidy, an abnormal chromosome count, is a hallmark of most human cancers.
  • The cohesin complex is crucial for accurate sister chromatid separation during cell division.

Purpose of the Study:

  • To investigate the mechanistic origins of aneuploidy in human tumors.
  • To determine the role of STAG2 gene mutations in the development of aneuploidy.

Main Methods:

  • Integrative genomic analyses of diverse human tumor types.
  • Targeted inactivation of the STAG2 gene in a human cell line.
  • Targeted correction of STAG2 mutations in glioblastoma cell lines.

Main Results:

  • Deletions or inactivating mutations of STAG2 were identified across various tumor types.
  • STAG2 inactivation in a normal cell line induced chromatid cohesion defects and aneuploidy.
  • Correction of STAG2 mutations in cancer cells enhanced chromosomal stability.

Conclusions:

  • Genetic disruption of the cohesin subunit STAG2 is a direct cause of aneuploidy in human cancer.
  • STAG2, located on the X chromosome, is susceptible to inactivation, contributing to cancer development.

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