Abstract
The current version of the androgen receptor (AR) gene mutations database is described. The total number of reported mutations has risen from 272 to 309 in the past year. We have expanded the database: (i) by giving each entry an accession number; (ii) by adding information on the length of polymorphic polyglutamine (polyGln) and polyglycine (polyGly) tracts in exon 1; (iii) by adding information on large gene deletions; (iv) by providing a direct link with a completely searchable database (courtesy EMBL-European Bioinformatics Institute). The addition of the exon 1 polymorphisms is discussed in light of their possible relevance as markers for predisposition to prostate or breast cancer. The database is also available on the internet (http://www.mcgill. 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).
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- Batch J. A., Williams D. M., Davies H. R., Brown B. D., Evans B. A., Hughes I. A., Patterson M. N. Androgen receptor gene mutations identified by SSCP in fourteen subjects with androgen insensitivity syndrome. Hum Mol Genet. 1992 Oct;1(7):497–503. doi: 10.1093/hmg/1.7.497. [DOI] [PubMed] [Google Scholar]
- Beitel L. K., Kazemi-Esfarjani P., Kaufman M., Lumbroso R., DiGeorge A. M., Killinger D. W., Trifiro M. A., Pinsky L. Substitution of arginine-839 by cysteine or histidine in the androgen receptor causes different receptor phenotypes in cultured cells and coordinate degrees of clinical androgen resistance. J Clin Invest. 1994 Aug;94(2):546–554. doi: 10.1172/JCI117368. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Brinkmann A. O., Jenster G., Ris-Stalpers C., van der Korput J. A., Brüggenwirth H. T., Boehmer A. L., Trapman J. Androgen receptor mutations. J Steroid Biochem Mol Biol. 1995 Jun;53(1-6):443–448. doi: 10.1016/0960-0760(95)00090-m. [DOI] [PubMed] [Google Scholar]
- Davies H. R., Hughes I. A., Savage M. O., Quigley C. A., Trifiro M., Pinsky L., Brown T. R., Patterson M. N. Androgen insensitivity with mental retardation: a contiguous gene syndrome? J Med Genet. 1997 Feb;34(2):158–160. doi: 10.1136/jmg.34.2.158. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Gottlieb B., Trifiro M., Lumbroso R., Pinsky L. The androgen receptor gene mutations database. Nucleic Acids Res. 1997 Jan 1;25(1):158–162. doi: 10.1093/nar/25.1.158. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Gottlieb B., Trifiro M., Lumbroso R., Vasiliou D. M., Pinsky L. The androgen receptor gene mutations database. Nucleic Acids Res. 1996 Jan 1;24(1):151–154. doi: 10.1093/nar/24.1.151. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Hiort O., Wodtke A., Struve D., Zöllner A., Sinnecker G. H. Detection of point mutations in the androgen receptor gene using non-isotopic single strand conformation polymorphism analysis. German Collaborative Intersex Study Group. Hum Mol Genet. 1994 Jul;3(7):1163–1166. doi: 10.1093/hmg/3.7.1163. [DOI] [PubMed] [Google Scholar]
- Ingles S. A., Ross R. K., Yu M. C., Irvine R. A., La Pera G., Haile R. W., Coetzee G. A. Association of prostate cancer risk with genetic polymorphisms in vitamin D receptor and androgen receptor. J Natl Cancer Inst. 1997 Jan 15;89(2):166–170. doi: 10.1093/jnci/89.2.166. [DOI] [PubMed] [Google Scholar]
- Klocker H., Kaspar F., Eberle J., Uberreiter S., Radmayr C., Bartsch G. Point mutation in the DNA binding domain of the androgen receptor in two families with Reifenstein syndrome. Am J Hum Genet. 1992 Jun;50(6):1318–1327. [PMC free article] [PubMed] [Google Scholar]
- La Spada A. R., Wilson E. M., Lubahn D. B., Harding A. E., Fischbeck K. H. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature. 1991 Jul 4;352(6330):77–79. doi: 10.1038/352077a0. [DOI] [PubMed] [Google Scholar]
- Lubahn D. B., Joseph D. R., Sar M., Tan J., Higgs H. N., Larson R. E., French F. S., Wilson E. M. The human androgen receptor: complementary deoxyribonucleic acid cloning, sequence analysis and gene expression in prostate. Mol Endocrinol. 1988 Dec;2(12):1265–1275. doi: 10.1210/mend-2-12-1265. [DOI] [PubMed] [Google Scholar]
- McPhaul M. J., Marcelli M., Zoppi S., Griffin J. E., Wilson J. D. Genetic basis of endocrine disease. 4. The spectrum of mutations in the androgen receptor gene that causes androgen resistance. J Clin Endocrinol Metab. 1993 Jan;76(1):17–23. doi: 10.1210/jcem.76.1.8421085. [DOI] [PubMed] [Google Scholar]
- Parker M. G., White R. Nuclear receptors spring into action. Nat Struct Biol. 1996 Feb;3(2):113–115. doi: 10.1038/nsb0296-113. [DOI] [PubMed] [Google Scholar]
- Pinsky L., Trifiro M., Kaufman M., Beitel L. K., Mhatre A., Kazemi-Esfarjani P., Sabbaghian N., Lumbroso R., Alvarado C., Vasiliou M. Androgen resistance due to mutation of the androgen receptor. Clin Invest Med. 1992 Oct;15(5):456–472. [PubMed] [Google Scholar]
- Quigley C. A., De Bellis A., Marschke K. B., el-Awady M. K., Wilson E. M., French F. S. Androgen receptor defects: historical, clinical, and molecular perspectives. Endocr Rev. 1995 Jun;16(3):271–321. doi: 10.1210/edrv-16-3-271. [DOI] [PubMed] [Google Scholar]
- Ris-Stalpers C., Verleun-Mooijman M. C., de Blaeij T. J., Degenhart H. J., Trapman J., Brinkmann A. O. Differential splicing of human androgen receptor pre-mRNA in X-linked Reifenstein syndrome, because of a deletion involving a putative branch site. Am J Hum Genet. 1994 Apr;54(4):609–617. [PMC free article] [PubMed] [Google Scholar]
- Stanford J. L., Just J. J., Gibbs M., Wicklund K. G., Neal C. L., Blumenstein B. A., Ostrander E. A. Polymorphic repeats in the androgen receptor gene: molecular markers of prostate cancer risk. Cancer Res. 1997 Mar 15;57(6):1194–1198. [PubMed] [Google Scholar]
- Sultan C., Lumbroso S., Poujol N., Belon C., Boudon C., Lobaccaro J. M. Mutations of androgen receptor gene in androgen insensitivity syndromes. J Steroid Biochem Mol Biol. 1993 Nov;46(5):519–530. doi: 10.1016/0960-0760(93)90178-y. [DOI] [PubMed] [Google Scholar]
- Taplin M. E., Bubley G. J., Shuster T. D., Frantz M. E., Spooner A. E., Ogata G. K., Keer H. N., Balk S. P. Mutation of the androgen-receptor gene in metastatic androgen-independent prostate cancer. N Engl J Med. 1995 May 25;332(21):1393–1398. doi: 10.1056/NEJM199505253322101. [DOI] [PubMed] [Google Scholar]
- Tilley W. D., Buchanan G., Hickey T. E., Bentel J. M. Mutations in the androgen receptor gene are associated with progression of human prostate cancer to androgen independence. Clin Cancer Res. 1996 Feb;2(2):277–285. [PubMed] [Google Scholar]
- Veldscholte J., Ris-Stalpers C., Kuiper G. G., Jenster G., Berrevoets C., Claassen E., van Rooij H. C., Trapman J., Brinkmann A. O., Mulder E. A mutation in the ligand binding domain of the androgen receptor of human LNCaP cells affects steroid binding characteristics and response to anti-androgens. Biochem Biophys Res Commun. 1990 Dec 14;173(2):534–540. doi: 10.1016/s0006-291x(05)80067-1. [DOI] [PubMed] [Google Scholar]
- Wooster R., Mangion J., Eeles R., Smith S., Dowsett M., Averill D., Barrett-Lee P., Easton D. F., Ponder B. A., Stratton M. R. A germline mutation in the androgen receptor gene in two brothers with breast cancer and Reifenstein syndrome. Nat Genet. 1992 Oct;2(2):132–134. doi: 10.1038/ng1092-132. [DOI] [PubMed] [Google Scholar]
- Yong E. L., Ng S. C., Roy A. C., Yun G., Ratnam S. S. Pregnancy after hormonal correction of severe spermatogenic defect due to mutation in androgen receptor gene. Lancet. 1994 Sep 17;344(8925):826–827. [PubMed] [Google Scholar]
