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The androgen receptor gene mutations database

M N Patterson1, I A Hughes, B Gottlieb

  • 1Department of Paediatrics, University of Cambridge, Addenbrooke's Hospital, UK.

Nucleic Acids Research
|September 1, 1994
PubMed
Summary
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This database catalogs androgen receptor gene mutations, primarily point mutations found in androgen insensitivity syndrome patients. It details mutation effects on androgen binding activity and receptor function.

Area of Science:

  • Genetics
  • Molecular Biology
  • Endocrinology

Background:

  • The androgen receptor (AR) plays a critical role in male sexual development and function.
  • Mutations in the AR gene are associated with a spectrum of disorders, including androgen insensitivity syndrome (AIS).
  • A centralized, curated resource for AR mutations is essential for research and clinical applications.

Purpose of the Study:

  • To create and maintain a comprehensive database of reported androgen receptor gene mutations.
  • To compile detailed information on the characteristics and functional consequences of these mutations.
  • To provide an accessible resource for researchers studying AR gene mutations and associated phenotypes.

Main Methods:

  • Systematic collection and curation of AR gene mutations from peer-reviewed literature and conference proceedings.

Related Experiment Videos

  • Inclusion of data on patient phenotype, mutation type and location, and impact on androgen binding.
  • Database entries are updated regularly to reflect new findings.

    • Main Results:

    • The database currently contains 149 entries, including 114 unique AR gene mutations.
    • The majority of documented mutations are point mutations.
    • Detailed information is provided on mutation-associated phenotypes and effects on AR ligand-binding activity.

    Conclusions:

    • The androgen receptor gene mutations database serves as a valuable, up-to-date resource for the scientific community.
    • It facilitates the understanding of genotype-phenotype correlations in AR-related disorders.
    • The database aids in the diagnosis and management of patients with androgen insensitivity syndrome and other AR-mediated conditions.