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Identification of a third EXT-like gene (EXTL3) belonging to the EXT gene family

W Van Hul1, W Wuyts, J Hendrickx

  • 1Department of Medical Genetics, University of Antwerp, Belgium. vhul@uia.ua.ac.be

Genomics
|February 28, 1998
PubMed

Insights

Researchers identified a new gene, EXTL3, expanding the EXT-EXTL gene family. This gene may function as a tumor suppressor and is a candidate for breast cancer research.

Area of Science:

  • Genetics
  • Oncology

Background:

  • Two homologous genes, EXT1 and EXT2, are linked to benign multiple cartilaginous bone tumors (exostoses).
  • These genes are hypothesized to possess tumor suppressor activity, with loss of function potentially causing bone tumors.
  • The discovery of EXT-like genes (EXTL1, EXTL2) indicated a larger gene family.

Purpose of the Study:

  • To identify and characterize additional members of the EXT-EXTL gene family.
  • To investigate the potential role of the newly identified gene, EXTL3, in tumor suppression.
  • To evaluate EXTL3 as a candidate gene for breast cancer on chromosome 8p12-p22.

Main Methods:

  • Homologous expressed sequence tag (EST) screening to identify novel genes.
  • Gene characterization and comparison with known EXT-EXTL family members.
  • Analysis of EXTL3's potential tumor suppressor function.

Main Results:

  • Identification of a novel homologous EST (EST01365), representing a new gene member, EXTL3.
  • Characterization of EXTL3 and comparison with EXT1, EXT2, EXTL1, and EXTL2.
  • EXTL3 exhibits characteristics suggesting a tumor suppressor role.

Conclusions:

  • The EXT-EXTL gene family comprises at least five members, including the newly identified EXTL3.
  • EXTL3 is a strong candidate gene for the breast cancer locus on chromosome 8p12-p22 due to its putative tumor suppressor function.

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