Databases

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

  1. Bruce Gottlieb1,4,*,
  2. Lenore K. Beitel1,2,
  3. Jian Hui Wu1,
  4. Mark Trifiro1,2,3

Article first published online: 22 APR 2004

DOI: 10.1002/humu.20044

Issue

Human Mutation

Human Mutation

Volume 23, Issue 6, pages 527–533, June 2004

Additional Information

How to Cite

Gottlieb, B., Beitel, L. K., Wu, J. H. and Trifiro, M. (2004), The androgen receptor gene mutations database (ARDB): 2004 update. Hum. Mutat., 23: 527–533. doi: 10.1002/humu.20044

Author Information

  1. 1

    Lady Davis Institute for Medical Research, Sir Mortimer B. Davis-Jewish General Hospital, Montreal, Canada

  2. 2

    Department of Medicine, McGill University, Montreal, Canada

  3. 3

    Department of Human Genetics, McGill University, Montreal, Canada

  4. 4

    Department of Biology, John Abbott College, Canada

*Lady Davis Institute for Medical Research, Sir Mortimer B. Davis - Jewish General Hospital, 3755 Cote Ste. Catherine Road, Montreal, Quebec, Canada H3T 2E1

  1. †

    Communicated by Alastair Brown

Publication History

  1. Issue published online: 22 APR 2004
  2. Article first published online: 22 APR 2004
  3. Manuscript Accepted: 23 JAN 2004
  4. Manuscript Received: 7 SEP 2003

Funded by

  • Canadian Institutes of Health Research

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Keywords:

  • databases;
  • androgen receptor gene;
  • AR;
  • androgen insensitivity syndrome;
  • AIS;
  • prostate cancer;
  • CaP;
  • Kennedy disease;
  • spinobulbar muscular atrophy;
  • SBMA

Abstract

The current version of the androgen receptor (AR) gene mutations database is described. The total number of reported mutations has risen from 374 to 605, and the number of AR-interacting proteins described has increased from 23 to 70, both over the past 3 years. A 3D model of the AR ligand-binding domain (AR LBD) has been added to give a better understanding of gene structure–function relationships. In addition, silent mutations have now been reported in both androgen insensitivity syndrome (AIS) and prostate cancer (CaP) cases. The database also now incorporates information on the exon 1 CAG repeat expansion disease, spinobulbar muscular atrophy (SBMA), as well as CAG repeat length variations associated with risk for female breast, uterine endometrial, colorectal, and prostate cancer, as well as for male infertility. The possible implications of somatic mutations, as opposed to germline mutations, in the development of future locus-specific mutation databases (LSDBs) is discussed. The database is available on the Internet (http://www.mcgill.ca/androgendb/). Hum Mutat 23:527–533, 2004. © 2004 Wiley-Liss, Inc.

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