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Update of the androgen receptor gene mutations database
B Gottlieb1, L K Beitel, R Lumbroso
1Lady Davis Institute for Medical Research, Sir Mortimer B. Davis-Jewish General Hospital, McGill University, Montreal, Quebec, Canada. mc33@musica.mcgill.ca
Human Mutation
|July 29, 1999
Summary
The androgen receptor (AR) gene mutations database has been updated with 374 reported mutations, including new information on AR-interacting proteins and previously unreported mutation types. This resource aids research into AR gene variations and associated conditions like prostate cancer.
Area of Science:
- Genetics and Genomics
- Molecular Biology
- Bioinformatics
Background:
- The androgen receptor (AR) gene plays a crucial role in male development and is implicated in various diseases, including prostate cancer.
- Accurate and comprehensive databases of AR gene mutations are essential for understanding genotype-phenotype correlations and developing targeted therapies.
- Previous versions of the AR gene mutations database have cataloged known variations, but continuous updates are necessary to reflect new discoveries.
Purpose of the Study:
- To describe the current version of the androgen receptor (AR) gene mutations database, detailing its expansion and improvements.
- To incorporate new data on AR-interacting proteins and updated mutation entries.
- To highlight newly identified AR gene mutations, including those of unknown significance, single nucleotide polymorphisms, and a mutation hotspot associated with prostate cancer.
Main Methods:
- Database curation and expansion, incorporating reported AR gene mutations and associated clinical information.
- Integration of data on proteins interacting with the androgen receptor.
- Systematic identification and annotation of updated mutation entries and newly discovered variations, including single nucleotide polymorphisms and mutations in untranslated regions.
Main Results:
- The androgen receptor (AR) gene mutations database now contains 374 reported mutations, an increase from 309 in the previous year.
- New information on AR-interacting proteins has been added, and database entries have been improved with updated mutation information.
- Mutations of unknown significance, single nucleotide polymorphisms (including silent mutations), and a mutation hotspot in exon 5 associated with prostate cancer have been identified and incorporated.
Conclusions:
- The updated AR gene mutations database provides a comprehensive and valuable resource for researchers studying AR gene variations and their role in health and disease.
- The inclusion of AR-interacting proteins and diverse mutation types enhances the database's utility for investigating the molecular mechanisms underlying conditions like prostate cancer and male infertility.
- The database is readily accessible online and through various file formats, facilitating widespread use in the scientific community.