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

被引:213
作者
Gottlieb, B
Beitel, LK
Wu, JH
Trifiro, M
机构
[1] Sir Mortimer B Davis Jewish Hosp, Lady Davis Inst Med Res, Montreal, PQ H3T 2E1, Canada
[2] McGill Univ, Dept Med, Montreal, PQ, Canada
[3] McGill Univ, Dept Human Genet, Montreal, PQ, Canada
关键词
databases; androgen receptor gene; AR; androgen insensitivity syndrome; AIS; prostate cancer; CaP; Kennedy disease; spinobulbar muscular atrophy; SBMA;
D O I
10.1002/humu.20044
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
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 (www.mcgill.ca/ androgendb/). (C) 2004 Wiley-Liss, Inc.
引用
收藏
页码:527 / 533
页数:7
相关论文
共 26 条
[1]   Androgen receptor gene polyglutamine length is associated with testicular histology in infertile patients [J].
Casella, R ;
Maduro, MR ;
Misfud, A ;
Lipshultz, LI ;
Yong, EL ;
Lamb, DJ .
JOURNAL OF UROLOGY, 2003, 169 (01) :224-227
[2]  
Chen Y, 2001, CANCER RES, V61, P4112
[3]   Androgen receptors in prostate cancer [J].
Culig, Z ;
Klocker, H ;
Bartsch, G ;
Hobisch, A .
ENDOCRINE-RELATED CANCER, 2002, 9 (03) :155-170
[4]   Esophageal cancer risk in relation to GGC and CAG trinucleotide repeat lengths in the androgen receptor gene [J].
Dietzsch, E ;
Laubscher, R ;
Parker, MI .
INTERNATIONAL JOURNAL OF CANCER, 2003, 107 (01) :38-45
[5]   Androgen receptor gene amplification and protein expression in hormone refractory prostate cancer [J].
Edwards, J ;
Krishna, NS ;
Grigor, KM ;
Bartlett, JMS .
BRITISH JOURNAL OF CANCER, 2003, 89 (03) :552-556
[6]   The polymorphic CAG repeat of the androgen receptor gene: a potential role in breast cancer in women over 40 [J].
Elhaji, YA ;
Gottlieb, B ;
Lumbroso, R ;
Beitel, LK ;
Foulkes, WD ;
Pinsky, L ;
Trifiro, MA .
BREAST CANCER RESEARCH AND TREATMENT, 2001, 70 (02) :109-116
[7]   The androgen receptor CAG repeat: a modifier of carcinogenesis? [J].
Ferro, P ;
Catalano, MG ;
Dell'Eva, R ;
Fortunati, N ;
Pfeffer, U .
MOLECULAR AND CELLULAR ENDOCRINOLOGY, 2002, 193 (1-2) :109-120
[8]  
Goode EL, 2002, CANCER EPIDEM BIOMAR, V11, P1513
[9]  
Gottlieb B, 1999, HUM MUTAT, V14, P103, DOI 10.1002/(SICI)1098-1004(1999)14:2<103::AID-HUMU2>3.3.CO
[10]  
2-1