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Related Experiment Videos

The androgen receptor gene mutations database (ARDB): 2004 update.

Bruce Gottlieb1, Lenore K Beitel, Jian Hui Wu

  • 1Lady Davis Institute for Medical Research, Sir Mortimer B. Davis-Jewish General Hospital, Montreal, Quebec, Canada. bruce.gottlieb@mcgill.ca

Human Mutation
|May 18, 2004
PubMed
Summary

The androgen receptor (AR) gene mutations database has been updated, now including 605 mutations and 70 interacting proteins. It features a 3D AR ligand-binding domain model and data on various cancers and infertility.

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Area of Science:

  • Genetics and Molecular Biology
  • Bioinformatics
  • Medical Genetics

Background:

  • The androgen receptor (AR) gene is crucial for male sexual development and function.
  • Mutations in the AR gene are associated with various disorders, including prostate cancer and androgen insensitivity syndrome.
  • Existing databases require regular updates to reflect the growing body of research on AR gene mutations.

Purpose of the Study:

  • To describe the updated version of the androgen receptor (AR) gene mutations database.
  • To enhance understanding of AR gene structure-function relationships through a new 3D model.
  • To expand the database's scope to include new mutation types and associated diseases.

Main Methods:

  • Database curation and integration of newly reported AR gene mutations.

Related Experiment Videos

  • Inclusion of a 3D model of the AR ligand-binding domain (AR LBD).
  • Expansion of the database to incorporate data on silent mutations, exon 1 CAG repeat expansions, and somatic mutations.

    • Main Results:

    • The database now contains 605 reported AR gene mutations, a significant increase from 374.
    • The number of AR-interacting proteins documented has risen from 23 to 70.
    • The database includes information on spinobulbar muscular atrophy (SBMA) and CAG repeat variations linked to various cancers and male infertility.

    Conclusions:

    • The updated AR gene mutations database provides a comprehensive resource for researchers.
    • The inclusion of a 3D AR LBD model aids in understanding gene structure-function relationships.
    • The database's expanded scope supports research into AR-related diseases and the development of future locus-specific mutation databases.