Update of the androgen receptor gene mutations database

Citation
B. Gottlieb et al., Update of the androgen receptor gene mutations database, HUM MUTAT, 14(2), 1999, pp. 103-114
Citations number
70
Language
INGLESE
art.tipo
Article
Categorie Soggetti
Molecular Biology & Genetics
Journal title
HUMAN MUTATION
ISSN journal
1059-7794 → ACNP
Volume
14
Issue
2
Year of publication
1999
Pages
103 - 114
Database
ISI
SICI code
1059-7794(1999)14:2<103:UOTARG>2.0.ZU;2-U
Abstract
The current version of the androgen receptor (AR) gene mutations database i s described. The total number of reported mutations has risen from 309 to 3 74 during the past year. We have expanded the database by adding informatio n on AR-interacting proteins; and we have improved the database by identify ing those mutation entries that have been updated. Mutations of un known si gnificance have now been reported in both the 5' and 3' untranslated region s of the AR gene, and in individuals who are somatic mosaics constitutional ly. In addition, single nucleotide polymorphisms, including silent mutation s, have been discovered in normal individuals and in individuals with male infertility. A mutation hotspot associated with prostatic cancer has been i dentified in exon 5. The database is available on the internet (http:www.mc gill.ca/androgendb/), from EMBL-European Bioinformatics Institute (ftp.ebi. ac.uk/pub/databases/androgen), or as a Macintosh FilemakerPro or Word file (MC33@musica.mcgill.ca). Hum Mutat 14:103-114, 1999, (C) 1999 Wiley-Liss, I nc.