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Identification
HMDB Protein ID HMDBP01624
Secondary Accession Numbers
  • 6947
Name Androgen receptor
Synonyms
  1. Dihydrotestosterone receptor
  2. Nuclear receptor subfamily 3 group C member 4
Gene Name AR
Protein Type Enzyme
Biological Properties
General Function Involved in DNA binding
Specific Function Steroid hormone receptors are ligand-activated transcription factors that regulate eukaryotic gene expression and affect cellular proliferation and differentiation in target tissues. Transcription factor activity is modulated by bound coactivator and corepressor proteins. Transcription activation is down-regulated by NR0B2. Activated, but not phosphorylated, by HIPK3
Pathways Not Available
Reactions Not Available
GO Classification
Component
organelle
membrane-bounded organelle
intracellular membrane-bounded organelle
nucleus
Function
ion binding
cation binding
metal ion binding
binding
transition metal ion binding
zinc ion binding
receptor activity
molecular transducer activity
signal transducer activity
nucleic acid binding
dna binding
steroid binding
sequence-specific dna binding
ligand-dependent nuclear receptor activity
steroid hormone receptor activity
sequence-specific dna binding transcription factor activity
androgen receptor activity
lipid binding
Process
biological regulation
regulation of biological process
regulation of metabolic process
regulation of macromolecule metabolic process
regulation of gene expression
regulation of transcription
regulation of transcription, dna-dependent
Cellular Location
  1. Nucleus
Gene Properties
Chromosome Location Not Available
Locus Not Available
SNPs AR
Gene Sequence
>2760 bp
ATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGA
GGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGG
CACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAG
CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACT
AGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGA
GGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCC
CTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGC
AAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCC
ACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAA
GACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTA
TCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAG
GACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCA
GTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAG
CTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACT
CCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGC
ACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGC
GAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCG
TCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGC
GACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCAT
CCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCG
GCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCC
GGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAA
GAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGC
GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTAC
GGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGAT
GTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAA
AGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGTTTGGAG
ACTGCCAGGGACCATGTTTTGCCCATTGACTATTACTTTCCACCCCAGAAGACCTGCCTG
ATCTGTGGAGATGAAGCTTCTGGGTGTCACTATGGAGCTCTCACATGTGGAAGCTGCAAG
GTCTTCTTCAAAAGAGCCGCTGAAGGGAAACAGAAGTACCTGTGCGCCAGCAGAAATGAT
TGCACTATTGATAAATTCCGAAGGAAAAATTGTCCATCTTGTCGTCTTCGGAAATGTTAT
GAAGCAGGGATGACTCTGGGAGCCCGGAAGCTGAAGAAACTTGGTAATCTGAAACTACAG
GAGGAAGGAGAGGCTTCCAGCACCACCAGCCCCACTGAGGAGACAACCCAGAAGCTGACA
GTGTCACACATTGAAGGCTATGAATGTCAGCCCATCTTTCTGAATGTCCTGGAAGCCATT
GAGCCAGGTGTAGTGTGTGCTGGACACGACAACAACCAGCCCGACTCCTTTGCAGCCTTG
CTCTCTAGCCTCAATGAACTGGGAGAGAGACAGCTTGTACACGTGGTCAAGTGGGCCAAG
GCCTTGCCTGGCTTCCGCAACTTACACGTGGACGACCAGATGGCTGTCATTCAGTACTCC
TGGATGGGGCTCATGGTGTTTGCCATGGGCTGGCGATCCTTCACCAATGTCAACTCCAGG
ATGCTCTACTTCGCCCCTGATCTGGTTTTCAATGAGTACCGCATGCACAAGTCCCGGATG
TACAGCCAGTGTGTCCGAATGAGGCACCTCTCTCAAGAGTTTGGATGGCTCCAAATCACC
CCCCAGGAATTCCTGTGCATGAAAGCACTGCTACTCTTCAGCATTATTCCAGTGGATGGG
CTGAAAAATCAAAAATTCTTTGATGAACTTCGAATGAACTACATCAAGGAACTCGATCGT
ATCATTGCATGCAAAAGAAAAAATCCCACATCCTGCTCAAGACGCTTCTACCAGCTCACC
AAGCTCCTGGACTCCGTGCAGCCTATTGCGAGAGAGCTGCATCAGTTCACTTTTGACCTG
CTAATCAAGTCACACATGGTGAGCGTGGACTTTCCGGAAATGATGGCAGAGATCATCTCT
GTGCAAGTGCCCAAGATCCTTTCTGGGAAAGTCAAGCCCATCTATTTCCACACCCAGTGA
Protein Properties
Number of Residues 919
Molecular Weight 98987.9
Theoretical pI 6.38
Pfam Domain Function
Signals
  • None
Transmembrane Regions
  • None
Protein Sequence
>Androgen receptor
MEVQLGLGRVYPRPPSKTYRGAFQNLFQSVREVIQNPGPRHPEAASAAPPGASLLLLQQQ
QQQQQQQQQQQQQQQQQQETSPRQQQQQQGEDGSPQAHRRGPTGYLVLDEEQQPSQPQSA
LECHPERGCVPEPGAAVAASKGLPQQLPAPPDEDDSAAPSTLSLLGPTFPGLSSCSADLK
DILSEASTMQLLQQQQQEAVSEGSSSGRAREASGAPTSSKDNYLGGTSTISDNAKELCKA
VSVSMGLGVEALEHLSPGEQLRGDCMYAPLLGVPPAVRPTPCAPLAECKGSLLDDSAGKS
TEDTAEYSPFKGGYTKGLEGESLGCSGSAAAGSSGTLELPSTLSLYKSGALDEAAAYQSR
DYYNFPLALAGPPPPPPPPHPHARIKLENPLDYGSAWAAAAAQCRYGDLASLHGAGAAGP
GSGSPSAAASSSWHTLFTAEEGQLYGPCGGGGGGGGGGGGGGGGGGGGGGGGEAGAVAPY
GYTRPPQGLAGQESDFTAPDVWYPGGMVSRVPYPSPTCVKSEMGPWMDSYSGPYGDMRLE
TARDHVLPIDYYFPPQKTCLICGDEASGCHYGALTCGSCKVFFKRAAEGKQKYLCASRND
CTIDKFRRKNCPSCRLRKCYEAGMTLGARKLKKLGNLKLQEEGEASSTTSPTEETTQKLT
VSHIEGYECQPIFLNVLEAIEPGVVCAGHDNNQPDSFAALLSSLNELGERQLVHVVKWAK
ALPGFRNLHVDDQMAVIQYSWMGLMVFAMGWRSFTNVNSRMLYFAPDLVFNEYRMHKSRM
YSQCVRMRHLSQEFGWLQITPQEFLCMKALLLFSIIPVDGLKNQKFFDELRMNYIKELDR
IIACKRKNPTSCSRRFYQLTKLLDSVQPIARELHQFTFDLLIKSHMVSVDFPEMMAEIIS
VQVPKILSGKVKPIYFHTQ
GenBank ID Protein 178628
UniProtKB/Swiss-Prot ID P10275
UniProtKB/Swiss-Prot Entry Name ANDR_HUMAN
PDB IDs
GenBank Gene ID M20132
GeneCard ID AR
GenAtlas ID AR
HGNC ID HGNC:644
References
General References
  1. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed:15489334 ]
  2. Oppermann FS, Gnad F, Olsen JV, Hornberger R, Greff Z, Keri G, Mann M, Daub H: Large-scale proteomics analysis of the human kinome. Mol Cell Proteomics. 2009 Jul;8(7):1751-64. doi: 10.1074/mcp.M800588-MCP200. Epub 2009 Apr 15. [PubMed:19369195 ]
  3. Ross MT, Grafham DV, Coffey AJ, Scherer S, McLay K, Muzny D, Platzer M, Howell GR, Burrows C, Bird CP, Frankish A, Lovell FL, Howe KL, Ashurst JL, Fulton RS, Sudbrak R, Wen G, Jones MC, Hurles ME, Andrews TD, Scott CE, Searle S, Ramser J, Whittaker A, Deadman R, Carter NP, Hunt SE, Chen R, Cree A, Gunaratne P, Havlak P, Hodgson A, Metzker ML, Richards S, Scott G, Steffen D, Sodergren E, Wheeler DA, Worley KC, Ainscough R, Ambrose KD, Ansari-Lari MA, Aradhya S, Ashwell RI, Babbage AK, Bagguley CL, Ballabio A, Banerjee R, Barker GE, Barlow KF, Barrett IP, Bates KN, Beare DM, Beasley H, Beasley O, Beck A, Bethel G, Blechschmidt K, Brady N, Bray-Allen S, Bridgeman AM, Brown AJ, Brown MJ, Bonnin D, Bruford EA, Buhay C, Burch P, Burford D, Burgess J, Burrill W, Burton J, Bye JM, Carder C, Carrel L, Chako J, Chapman JC, Chavez D, Chen E, Chen G, Chen Y, Chen Z, Chinault C, Ciccodicola A, Clark SY, Clarke G, Clee CM, Clegg S, Clerc-Blankenburg K, Clifford K, Cobley V, Cole CG, Conquer JS, Corby N, Connor RE, David R, Davies J, Davis C, Davis J, Delgado O, Deshazo D, Dhami P, Ding Y, Dinh H, Dodsworth S, Draper H, Dugan-Rocha S, Dunham A, Dunn M, Durbin KJ, Dutta I, Eades T, Ellwood M, Emery-Cohen A, Errington H, Evans KL, Faulkner L, Francis F, Frankland J, Fraser AE, Galgoczy P, Gilbert J, Gill R, Glockner G, Gregory SG, Gribble S, Griffiths C, Grocock R, Gu Y, Gwilliam R, Hamilton C, Hart EA, Hawes A, Heath PD, Heitmann K, Hennig S, Hernandez J, Hinzmann B, Ho S, Hoffs M, Howden PJ, Huckle EJ, Hume J, Hunt PJ, Hunt AR, Isherwood J, Jacob L, Johnson D, Jones S, de Jong PJ, Joseph SS, Keenan S, Kelly S, Kershaw JK, Khan Z, Kioschis P, Klages S, Knights AJ, Kosiura A, Kovar-Smith C, Laird GK, Langford C, Lawlor S, Leversha M, Lewis L, Liu W, Lloyd C, Lloyd DM, Loulseged H, Loveland JE, Lovell JD, Lozado R, Lu J, Lyne R, Ma J, Maheshwari M, Matthews LH, McDowall J, McLaren S, McMurray A, Meidl P, Meitinger T, Milne S, Miner G, Mistry SL, Morgan M, Morris S, Muller I, Mullikin JC, Nguyen N, Nordsiek G, Nyakatura G, O'Dell CN, Okwuonu G, Palmer S, Pandian R, Parker D, Parrish J, Pasternak S, Patel D, Pearce AV, Pearson DM, Pelan SE, Perez L, Porter KM, Ramsey Y, Reichwald K, Rhodes S, Ridler KA, Schlessinger D, Schueler MG, Sehra HK, Shaw-Smith C, Shen H, Sheridan EM, Shownkeen R, Skuce CD, Smith ML, Sotheran EC, Steingruber HE, Steward CA, Storey R, Swann RM, Swarbreck D, Tabor PE, Taudien S, Taylor T, Teague B, Thomas K, Thorpe A, Timms K, Tracey A, Trevanion S, Tromans AC, d'Urso M, Verduzco D, Villasana D, Waldron L, Wall M, Wang Q, Warren J, Warry GL, Wei X, West A, Whitehead SL, Whiteley MN, Wilkinson JE, Willey DL, Williams G, Williams L, Williamson A, Williamson H, Wilming L, Woodmansey RL, Wray PW, Yen J, Zhang J, Zhou J, Zoghbi H, Zorilla S, Buck D, Reinhardt R, Poustka A, Rosenthal A, Lehrach H, Meindl A, Minx PJ, Hillier LW, Willard HF, Wilson RK, Waterston RH, Rice CM, Vaudin M, Coulson A, Nelson DL, Weinstock G, Sulston JE, Durbin R, Hubbard T, Gibbs RA, Beck S, Rogers J, Bentley DR: The DNA sequence of the human X chromosome. Nature. 2005 Mar 17;434(7031):325-37. [PubMed:15772651 ]
  4. Miyajima N, Maruyama S, Bohgaki M, Kano S, Shigemura M, Shinohara N, Nonomura K, Hatakeyama S: TRIM68 regulates ligand-dependent transcription of androgen receptor in prostate cancer cells. Cancer Res. 2008 May 1;68(9):3486-94. doi: 10.1158/0008-5472.CAN-07-6059. [PubMed:18451177 ]
  5. Wong CW, McNally C, Nickbarg E, Komm BS, Cheskis BJ: Estrogen receptor-interacting protein that modulates its nongenomic activity-crosstalk with Src/Erk phosphorylation cascade. Proc Natl Acad Sci U S A. 2002 Nov 12;99(23):14783-8. Epub 2002 Nov 1. [PubMed:12415108 ]
  6. Poukka H, Aarnisalo P, Karvonen U, Palvimo JJ, Janne OA: Ubc9 interacts with the androgen receptor and activates receptor-dependent transcription. J Biol Chem. 1999 Jul 2;274(27):19441-6. [PubMed:10383460 ]
  7. Mahajan NP, Liu Y, Majumder S, Warren MR, Parker CE, Mohler JL, Earp HS, Whang YE: Activated Cdc42-associated kinase Ack1 promotes prostate cancer progression via androgen receptor tyrosine phosphorylation. Proc Natl Acad Sci U S A. 2007 May 15;104(20):8438-43. Epub 2007 May 9. [PubMed:17494760 ]
  8. Lubahn DB, Joseph DR, Sar M, Tan J, Higgs HN, Larson RE, French FS, Wilson EM: The human androgen receptor: complementary deoxyribonucleic acid cloning, sequence analysis and gene expression in prostate. Mol Endocrinol. 1988 Dec;2(12):1265-75. [PubMed:3216866 ]
  9. Chang CS, Kokontis J, Liao ST: Structural analysis of complementary DNA and amino acid sequences of human and rat androgen receptors. Proc Natl Acad Sci U S A. 1988 Oct;85(19):7211-5. [PubMed:3174628 ]
  10. Tilley WD, Marcelli M, Wilson JD, McPhaul MJ: Characterization and expression of a cDNA encoding the human androgen receptor. Proc Natl Acad Sci U S A. 1989 Jan;86(1):327-31. [PubMed:2911578 ]
  11. Lubahn DB, Brown TR, Simental JA, Higgs HN, Migeon CJ, Wilson EM, French FS: Sequence of the intron/exon junctions of the coding region of the human androgen receptor gene and identification of a point mutation in a family with complete androgen insensitivity. Proc Natl Acad Sci U S A. 1989 Dec;86(23):9534-8. [PubMed:2594783 ]
  12. Govindan MV: Specific region in hormone binding domain is essential for hormone binding and trans-activation by human androgen receptor. Mol Endocrinol. 1990 Mar;4(3):417-27. [PubMed:2342476 ]
  13. Marcelli M, Tilley WD, Wilson CM, Griffin JE, Wilson JD, McPhaul MJ: Definition of the human androgen receptor gene structure permits the identification of mutations that cause androgen resistance: premature termination of the receptor protein at amino acid residue 588 causes complete androgen resistance. Mol Endocrinol. 1990 Aug;4(8):1105-16. [PubMed:2293020 ]
  14. Ahrens-Fath I, Politz O, Geserick C, Haendler B: Androgen receptor function is modulated by the tissue-specific AR45 variant. FEBS J. 2005 Jan;272(1):74-84. [PubMed:15634333 ]
  15. Faber PW, Kuiper GG, van Rooij HC, van der Korput JA, Brinkmann AO, Trapman J: The N-terminal domain of the human androgen receptor is encoded by one, large exon. Mol Cell Endocrinol. 1989 Feb;61(2):257-62. [PubMed:2917688 ]
  16. Chang CS, Kokontis J, Liao ST: Molecular cloning of human and rat complementary DNA encoding androgen receptors. Science. 1988 Apr 15;240(4850):324-6. [PubMed:3353726 ]
  17. Trapman J, Klaassen P, Kuiper GG, van der Korput JA, Faber PW, van Rooij HC, Geurts van Kessel A, Voorhorst MM, Mulder E, Brinkmann AO: Cloning, structure and expression of a cDNA encoding the human androgen receptor. Biochem Biophys Res Commun. 1988 May 31;153(1):241-8. [PubMed:3377788 ]
  18. Kuiper GG, Faber PW, van Rooij HC, van der Korput JA, Ris-Stalpers C, Klaassen P, Trapman J, Brinkmann AO: Structural organization of the human androgen receptor gene. J Mol Endocrinol. 1989 May;2(3):R1-4. [PubMed:2546571 ]
  19. Mowszowicz I, Lee HJ, Chen HT, Mestayer C, Portois MC, Cabrol S, Mauvais-Jarvis P, Chang C: A point mutation in the second zinc finger of the DNA-binding domain of the androgen receptor gene causes complete androgen insensitivity in two siblings with receptor-positive androgen resistance. Mol Endocrinol. 1993 Jul;7(7):861-9. [PubMed:8413310 ]
  20. Lubahn DB, Joseph DR, Sullivan PM, Willard HF, French FS, Wilson EM: Cloning of human androgen receptor complementary DNA and localization to the X chromosome. Science. 1988 Apr 15;240(4850):327-30. [PubMed:3353727 ]
  21. Ris-Stalpers C, Trifiro MA, Kuiper GG, Jenster G, Romalo G, Sai T, van Rooij HC, Kaufman M, Rosenfield RL, Liao S, et al.: Substitution of aspartic acid-686 by histidine or asparagine in the human androgen receptor leads to a functionally inactive protein with altered hormone-binding characteristics. Mol Endocrinol. 1991 Oct;5(10):1562-9. [PubMed:1775137 ]
  22. Sleddens HF, Oostra BA, Brinkmann AO, Trapman J: Trinucleotide repeat polymorphism in the androgen receptor gene (AR). Nucleic Acids Res. 1992 Mar 25;20(6):1427. [PubMed:1561105 ]
  23. Giovannucci E, Stampfer MJ, Krithivas K, Brown M, Dahl D, Brufsky A, Talcott J, Hennekens CH, Kantoff PW: The CAG repeat within the androgen receptor gene and its relationship to prostate cancer. Proc Natl Acad Sci U S A. 1997 Apr 1;94(7):3320-3. [PubMed:9096391 ]
  24. Waragai M, Lammers CH, Takeuchi S, Imafuku I, Udagawa Y, Kanazawa I, Kawabata M, Mouradian MM, Okazawa H: PQBP-1, a novel polyglutamine tract-binding protein, inhibits transcription activation by Brn-2 and affects cell survival. Hum Mol Genet. 1999 Jun;8(6):977-87. [PubMed:10332029 ]
  25. Fujimoto N, Yeh S, Kang HY, Inui S, Chang HC, Mizokami A, Chang C: Cloning and characterization of androgen receptor coactivator, ARA55, in human prostate. J Biol Chem. 1999 Mar 19;274(12):8316-21. [PubMed:10075738 ]
  26. Hsiao PW, Lin DL, Nakao R, Chang C: The linkage of Kennedy's neuron disease to ARA24, the first identified androgen receptor polyglutamine region-associated coactivator. J Biol Chem. 1999 Jul 16;274(29):20229-34. [PubMed:10400640 ]
  27. Oettgen P, Finger E, Sun Z, Akbarali Y, Thamrongsak U, Boltax J, Grall F, Dube A, Weiss A, Brown L, Quinn G, Kas K, Endress G, Kunsch C, Libermann TA: PDEF, a novel prostate epithelium-specific ets transcription factor, interacts with the androgen receptor and activates prostate-specific antigen gene expression. J Biol Chem. 2000 Jan 14;275(2):1216-25. [PubMed:10625666 ]
  28. Sharma M, Zarnegar M, Li X, Lim B, Sun Z: Androgen receptor interacts with a novel MYST protein, HBO1. J Biol Chem. 2000 Nov 10;275(45):35200-8. [PubMed:10930412 ]
  29. Poukka H, Karvonen U, Janne OA, Palvimo JJ: Covalent modification of the androgen receptor by small ubiquitin-like modifier 1 (SUMO-1). Proc Natl Acad Sci U S A. 2000 Dec 19;97(26):14145-50. [PubMed:11121022 ]
  30. Rao MA, Cheng H, Quayle AN, Nishitani H, Nelson CC, Rennie PS: RanBPM, a nuclear protein that interacts with and regulates transcriptional activity of androgen receptor and glucocorticoid receptor. J Biol Chem. 2002 Dec 13;277(50):48020-7. Epub 2002 Oct 1. [PubMed:12361945 ]
  31. Sharma M, Li X, Wang Y, Zarnegar M, Huang CY, Palvimo JJ, Lim B, Sun Z: hZimp10 is an androgen receptor co-activator and forms a complex with SUMO-1 at replication foci. EMBO J. 2003 Nov 17;22(22):6101-14. [PubMed:14609956 ]
  32. Hofman K, Swinnen JV, Claessens F, Verhoeven G, Heyns W: The retinoblastoma protein-associated transcription repressor RBaK interacts with the androgen receptor and enhances its transcriptional activity. J Mol Endocrinol. 2003 Dec;31(3):583-96. [PubMed:14664718 ]
  33. Niki T, Takahashi-Niki K, Taira T, Iguchi-Ariga SM, Ariga H: DJBP: a novel DJ-1-binding protein, negatively regulates the androgen receptor by recruiting histone deacetylase complex, and DJ-1 antagonizes this inhibition by abrogation of this complex. Mol Cancer Res. 2003 Feb;1(4):247-61. [PubMed:12612053 ]
  34. Mills IG, Gaughan L, Robson C, Ross T, McCracken S, Kelly J, Neal DE: Huntingtin interacting protein 1 modulates the transcriptional activity of nuclear hormone receptors. J Cell Biol. 2005 Jul 18;170(2):191-200. [PubMed:16027218 ]
  35. Huang CY, Beliakoff J, Li X, Lee J, Li X, Sharma M, Lim B, Sun Z: hZimp7, a novel PIAS-like protein, enhances androgen receptor-mediated transcription and interacts with SWI/SNF-like BAF complexes. Mol Endocrinol. 2005 Dec;19(12):2915-29. Epub 2005 Jul 28. [PubMed:16051670 ]
  36. Guo Z, Dai B, Jiang T, Xu K, Xie Y, Kim O, Nesheiwat I, Kong X, Melamed J, Handratta VD, Njar VC, Brodie AM, Yu LR, Veenstra TD, Chen H, Qiu Y: Regulation of androgen receptor activity by tyrosine phosphorylation. Cancer Cell. 2006 Oct;10(4):309-19. [PubMed:17045208 ]
  37. Mukhopadhyay NK, Cinar B, Mukhopadhyay L, Lutchman M, Ferdinand AS, Kim J, Chung LW, Adam RM, Ray SK, Leiter AB, Richie JP, Liu BC, Freeman MR: The zinc finger protein ras-responsive element binding protein-1 is a coregulator of the androgen receptor: implications for the role of the Ras pathway in enhancing androgenic signaling in prostate cancer. Mol Endocrinol. 2007 Sep;21(9):2056-70. Epub 2007 Jun 5. [PubMed:17550981 ]
  38. Xu K, Shimelis H, Linn DE, Jiang R, Yang X, Sun F, Guo Z, Chen H, Li W, Chen H, Kong X, Melamed J, Fang S, Xiao Z, Veenstra TD, Qiu Y: Regulation of androgen receptor transcriptional activity and specificity by RNF6-induced ubiquitination. Cancer Cell. 2009 Apr 7;15(4):270-82. doi: 10.1016/j.ccr.2009.02.021. [PubMed:19345326 ]
  39. Dirac AM, Bernards R: The deubiquitinating enzyme USP26 is a regulator of androgen receptor signaling. Mol Cancer Res. 2010 Jun;8(6):844-54. doi: 10.1158/1541-7786.MCR-09-0424. Epub 2010 May 25. [PubMed:20501646 ]
  40. Matias PM, Donner P, Coelho R, Thomaz M, Peixoto C, Macedo S, Otto N, Joschko S, Scholz P, Wegg A, Basler S, Schafer M, Egner U, Carrondo MA: Structural evidence for ligand specificity in the binding domain of the human androgen receptor. Implications for pathogenic gene mutations. J Biol Chem. 2000 Aug 25;275(34):26164-71. [PubMed:10840043 ]
  41. Matias PM, Carrondo MA, Coelho R, Thomaz M, Zhao XY, Wegg A, Crusius K, Egner U, Donner P: Structural basis for the glucocorticoid response in a mutant human androgen receptor (AR(ccr)) derived from an androgen-independent prostate cancer. J Med Chem. 2002 Mar 28;45(7):1439-46. [PubMed:11906285 ]
  42. He B, Gampe RT Jr, Kole AJ, Hnat AT, Stanley TB, An G, Stewart EL, Kalman RI, Minges JT, Wilson EM: Structural basis for androgen receptor interdomain and coactivator interactions suggests a transition in nuclear receptor activation function dominance. Mol Cell. 2004 Nov 5;16(3):425-38. [PubMed:15525515 ]
  43. Estebanez-Perpina E, Moore JM, Mar E, Delgado-Rodrigues E, Nguyen P, Baxter JD, Buehrer BM, Webb P, Fletterick RJ, Guy RK: The molecular mechanisms of coactivator utilization in ligand-dependent transactivation by the androgen receptor. J Biol Chem. 2005 Mar 4;280(9):8060-8. Epub 2004 Nov 24. [PubMed:15563469 ]
  44. Bohl CE, Miller DD, Chen J, Bell CE, Dalton JT: Structural basis for accommodation of nonsteroidal ligands in the androgen receptor. J Biol Chem. 2005 Nov 11;280(45):37747-54. Epub 2005 Aug 29. [PubMed:16129672 ]
  45. Pereira de Jesus-Tran K, Cote PL, Cantin L, Blanchet J, Labrie F, Breton R: Comparison of crystal structures of human androgen receptor ligand-binding domain complexed with various agonists reveals molecular determinants responsible for binding affinity. Protein Sci. 2006 May;15(5):987-99. [PubMed:16641486 ]
  46. Jouravel N, Sablin E, Arnold LA, Guy RK, Fletterick RJ: Interaction between the androgen receptor and a segment of its corepressor SHP. Acta Crystallogr D Biol Crystallogr. 2007 Nov;63(Pt 11):1198-200. Epub 2007 Oct 17. [PubMed:18007036 ]
  47. Bohl CE, Wu Z, Miller DD, Bell CE, Dalton JT: Crystal structure of the T877A human androgen receptor ligand-binding domain complexed to cyproterone acetate provides insight for ligand-induced conformational changes and structure-based drug design. J Biol Chem. 2007 May 4;282(18):13648-55. Epub 2007 Feb 20. [PubMed:17311914 ]
  48. Askew EB, Gampe RT Jr, Stanley TB, Faggart JL, Wilson EM: Modulation of androgen receptor activation function 2 by testosterone and dihydrotestosterone. J Biol Chem. 2007 Aug 31;282(35):25801-16. Epub 2007 Jun 25. [PubMed:17591767 ]
  49. Cantin L, Faucher F, Couture JF, de Jesus-Tran KP, Legrand P, Ciobanu LC, Frechette Y, Labrecque R, Singh SM, Labrie F, Breton R: Structural characterization of the human androgen receptor ligand-binding domain complexed with EM5744, a rationally designed steroidal ligand bearing a bulky chain directed toward helix 12. J Biol Chem. 2007 Oct 19;282(42):30910-9. Epub 2007 Aug 21. [PubMed:17711855 ]
  50. Estebanez-Perpina E, Arnold LA, Nguyen P, Rodrigues ED, Mar E, Bateman R, Pallai P, Shokat KM, Baxter JD, Guy RK, Webb P, Fletterick RJ: A surface on the androgen receptor that allosterically regulates coactivator binding. Proc Natl Acad Sci U S A. 2007 Oct 9;104(41):16074-9. Epub 2007 Oct 2. [PubMed:17911242 ]
  51. Pinsky L, Trifiro M, Kaufman M, Beitel LK, Mhatre A, Kazemi-Esfarjani P, Sabbaghian N, Lumbroso R, Alvarado C, Vasiliou M, et al.: Androgen resistance due to mutation of the androgen receptor. Clin Invest Med. 1992 Oct;15(5):456-72. [PubMed:1458719 ]
  52. Brown TR, Scherer PA, Chang YT, Migeon CJ, Ghirri P, Murono K, Zhou Z: Molecular genetics of human androgen insensitivity. Eur J Pediatr. 1993;152 Suppl 2:S62-9. [PubMed:8339746 ]
  53. Sultan C, Lumbroso S, Poujol N, Belon C, Boudon C, Lobaccaro JM: Mutations of androgen receptor gene in androgen insensitivity syndromes. J Steroid Biochem Mol Biol. 1993 Nov;46(5):519-30. [PubMed:8240973 ]
  54. Patterson MN, Hughes IA, Gottlieb B, Pinsky L: The androgen receptor gene mutations database. Nucleic Acids Res. 1994 Sep;22(17):3560-2. [PubMed:7937057 ]
  55. Brinkmann AO, Jenster G, Ris-Stalpers C, van der Korput JA, Bruggenwirth HT, Boehmer AL, Trapman J: Androgen receptor mutations. J Steroid Biochem Mol Biol. 1995 Jun;53(1-6):443-8. [PubMed:7626493 ]
  56. Gottlieb B, Trifiro M, Lumbroso R, Pinsky L: The androgen receptor gene mutations database. Nucleic Acids Res. 1997 Jan 1;25(1):158-62. [PubMed:9016528 ]
  57. Veldscholte J, Ris-Stalpers C, Kuiper GG, Jenster G, Berrevoets C, Claassen E, van Rooij HC, Trapman J, Brinkmann AO, 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):534-40. [PubMed:2260966 ]
  58. Brown TR, Lubahn DB, Wilson EM, French FS, Migeon CJ, Corden JL: Functional characterization of naturally occurring mutant androgen receptors from subjects with complete androgen insensitivity. Mol Endocrinol. 1990 Dec;4(12):1759-72. [PubMed:2082179 ]
  59. Marcelli M, Tilley WD, Zoppi S, Griffin JE, Wilson JD, McPhaul MJ: Androgen resistance associated with a mutation of the androgen receptor at amino acid 772 (Arg----Cys) results from a combination of decreased messenger ribonucleic acid levels and impairment of receptor function. J Clin Endocrinol Metab. 1991 Aug;73(2):318-25. [PubMed:1856263 ]
  60. Marcelli M, Zoppi S, Grino PB, Griffin JE, Wilson JD, McPhaul MJ: A mutation in the DNA-binding domain of the androgen receptor gene causes complete testicular feminization in a patient with receptor-positive androgen resistance. J Clin Invest. 1991 Mar;87(3):1123-6. [PubMed:1999491 ]
  61. McPhaul MJ, Marcelli M, Tilley WD, Griffin JE, Isidro-Gutierrez RF, Wilson JD: Molecular basis of androgen resistance in a family with a qualitative abnormality of the androgen receptor and responsive to high-dose androgen therapy. J Clin Invest. 1991 Apr;87(4):1413-21. [PubMed:2010552 ]
  62. La Spada AR, Wilson EM, Lubahn DB, Harding AE, Fischbeck KH: Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature. 1991 Jul 4;352(6330):77-9. [PubMed:2062380 ]
  63. Prior L, Bordet S, Trifiro MA, Mhatre A, Kaufman M, Pinsky L, Wrogeman K, Belsham DD, Pereira F, Greenberg C, et al.: Replacement of arginine 773 by cysteine or histidine in the human androgen receptor causes complete androgen insensitivity with different receptor phenotypes. Am J Hum Genet. 1992 Jul;51(1):143-55. [PubMed:1609793 ]
  64. Saunders PT, Padayachi T, Tincello DG, Shalet SM, Wu FC: Point mutations detected in the androgen receptor gene of three men with partial androgen insensitivity syndrome. Clin Endocrinol (Oxf). 1992 Sep;37(3):214-20. [PubMed:1424203 ]
  65. Sweet CR, Behzadian MA, McDonough PG: A unique point mutation in the androgen receptor gene in a family with complete androgen insensitivity syndrome. Fertil Steril. 1992 Oct;58(4):703-7. [PubMed:1426313 ]
  66. Jakubiczka S, Werder EA, Wieacker P: Point mutation in the steroid-binding domain of the androgen receptor gene in a family with complete androgen insensitivity syndrome (CAIS). Hum Genet. 1992 Nov;90(3):311-2. [PubMed:1487249 ]
  67. Batch JA, Williams DM, Davies HR, Brown BD, Evans BA, Hughes IA, Patterson MN: Androgen receptor gene mutations identified by SSCP in fourteen subjects with androgen insensitivity syndrome. Hum Mol Genet. 1992 Oct;1(7):497-503. [PubMed:1307250 ]
  68. Nakao R, Haji M, Yanase T, Ogo A, Takayanagi R, Katsube T, Fukumaki Y, Nawata H: A single amino acid substitution (Met786----Val) in the steroid-binding domain of human androgen receptor leads to complete androgen insensitivity syndrome. J Clin Endocrinol Metab. 1992 May;74(5):1152-7. [PubMed:1569163 ]
  69. Wilson CM, Griffin JE, Wilson JD, Marcelli M, Zoppi S, McPhaul MJ: Immunoreactive androgen receptor expression in subjects with androgen resistance. J Clin Endocrinol Metab. 1992 Dec;75(6):1474-8. [PubMed:1464650 ]
  70. McPhaul MJ, Marcelli M, Zoppi S, Wilson CM, Griffin JE, Wilson JD: Mutations in the ligand-binding domain of the androgen receptor gene cluster in two regions of the gene. J Clin Invest. 1992 Nov;90(5):2097-101. [PubMed:1430233 ]
  71. Veldscholte J, Berrevoets CA, Ris-Stalpers C, Kuiper GG, Jenster G, Trapman J, Brinkmann AO, Mulder E: The androgen receptor in LNCaP cells contains a mutation in the ligand binding domain which affects steroid binding characteristics and response to antiandrogens. J Steroid Biochem Mol Biol. 1992 Mar;41(3-8):665-9. [PubMed:1562539 ]
  72. Zoppi S, Marcelli M, Deslypere JP, Griffin JE, Wilson JD, McPhaul MJ: Amino acid substitutions in the DNA-binding domain of the human androgen receptor are a frequent cause of receptor-binding positive androgen resistance. Mol Endocrinol. 1992 Mar;6(3):409-15. [PubMed:1316540 ]
  73. De Bellis A, Quigley CA, Cariello NF, el-Awady MK, Sar M, Lane MV, Wilson EM, French FS: Single base mutations in the human androgen receptor gene causing complete androgen insensitivity: rapid detection by a modified denaturing gradient gel electrophoresis technique. Mol Endocrinol. 1992 Nov;6(11):1909-20. [PubMed:1480178 ]
  74. Wooster R, Mangion J, Eeles R, Smith S, Dowsett M, Averill D, Barrett-Lee P, Easton DF, Ponder BA, Stratton MR: A germline mutation in the androgen receptor gene in two brothers with breast cancer and Reifenstein syndrome. Nat Genet. 1992 Oct;2(2):132-4. [PubMed:1303262 ]
  75. Newmark JR, Hardy DO, Tonb DC, Carter BS, Epstein JI, Isaacs WB, Brown TR, Barrack ER: Androgen receptor gene mutations in human prostate cancer. Proc Natl Acad Sci U S A. 1992 Jul 15;89(14):6319-23. [PubMed:1631125 ]
  76. Macke JP, Hu N, Hu S, Bailey M, King VL, Brown T, Hamer D, Nathans J: Sequence variation in the androgen receptor gene is not a common determinant of male sexual orientation. Am J Hum Genet. 1993 Oct;53(4):844-52. [PubMed:8213813 ]
  77. Lumbroso S, Lobaccaro JM, Belon C, Martin D, Chaussain JL, Sultan C: A new mutation within the deoxyribonucleic acid-binding domain of the androgen receptor gene in a family with complete androgen insensitivity syndrome. Fertil Steril. 1993 Nov;60(5):814-9. [PubMed:8224266 ]
  78. Lobaccaro JM, Lumbroso S, Ktari R, Dumas R, Sultan C: An exonic point mutation creates a MaeIII site in the androgen receptor gene of a family with complete androgen insensitivity syndrome. Hum Mol Genet. 1993 Jul;2(7):1041-3. [PubMed:8103398 ]
  79. Lobaccaro JM, Lumbroso S, Belon C, Galtier-Dereure F, Bringer J, Lesimple T, Namer M, Cutuli BF, Pujol H, Sultan C: Androgen receptor gene mutation in male breast cancer. Hum Mol Genet. 1993 Nov;2(11):1799-802. [PubMed:8281139 ]
  80. Adeyemo O, Kallio PJ, Palvimo JJ, Kontula K, Janne OA: A single-base substitution in exon 6 of the androgen receptor gene causing complete androgen insensitivity: the mutated receptor fails to transactivate but binds to DNA in vitro. Hum Mol Genet. 1993 Nov;2(11):1809-12. [PubMed:8281140 ]
  81. Nakao R, Yanase T, Sakai Y, Haji M, Nawata H: A single amino acid substitution (gly743 --> val) in the steroid-binding domain of the human androgen receptor leads to Reifenstein syndrome. J Clin Endocrinol Metab. 1993 Jul;77(1):103-7. [PubMed:8325932 ]
  82. Hiort O, Huang Q, Sinnecker GH, Sadeghi-Nejad A, Kruse K, Wolfe HJ, Yandell DW: Single strand conformation polymorphism analysis of androgen receptor gene mutations in patients with androgen insensitivity syndromes: application for diagnosis, genetic counseling, and therapy. J Clin Endocrinol Metab. 1993 Jul;77(1):262-6. [PubMed:8325950 ]
  83. Batch JA, Evans BA, Hughes IA, Patterson MN: Mutations of the androgen receptor gene identified in perineal hypospadias. J Med Genet. 1993 Mar;30(3):198-201. [PubMed:8097257 ]
  84. Lobaccaro JM, Lumbroso S, Berta P, Chaussain JL, Sultan C: Complete androgen insensitivity syndrome associated with a de novo mutation of the androgen receptor gene detected by single strand conformation polymorphism. J Steroid Biochem Mol Biol. 1993 Mar;44(3):211-6. [PubMed:8096390 ]
  85. Suzuki H, Sato N, Watabe Y, Masai M, Seino S, Shimazaki J: Androgen receptor gene mutations in human prostate cancer. J Steroid Biochem Mol Biol. 1993 Dec;46(6):759-65. [PubMed:8274409 ]
  86. Kazemi-Esfarjani P, Beitel LK, Trifiro M, Kaufman M, Rennie P, Sheppard P, Matusik R, Pinsky L: Substitution of valine-865 by methionine or leucine in the human androgen receptor causes complete or partial androgen insensitivity, respectively with distinct androgen receptor phenotypes. Mol Endocrinol. 1993 Jan;7(1):37-46. [PubMed:8446106 ]
  87. Culig Z, Hobisch A, Cronauer MV, Cato AC, Hittmair A, Radmayr C, Eberle J, Bartsch G, Klocker H: Mutant androgen receptor detected in an advanced-stage prostatic carcinoma is activated by adrenal androgens and progesterone. Mol Endocrinol. 1993 Dec;7(12):1541-50. [PubMed:8145761 ]
  88. Castagnaro M, Yandell DW, Dockhorn-Dworniczak B, Wolfe HJ, Poremba C: [Androgen receptor gene mutations and p53 gene analysis in advanced prostate cancer]. Verh Dtsch Ges Pathol. 1993;77:119-23. [PubMed:7511268 ]
  89. Schoenberg MP, Hakimi JM, Wang S, Bova GS, Epstein JI, Fischbeck KH, Isaacs WB, Walsh PC, Barrack ER: Microsatellite mutation (CAG24-->18) in the androgen receptor gene in human prostate cancer. Biochem Biophys Res Commun. 1994 Jan 14;198(1):74-80. [PubMed:8292051 ]
  90. Gaddipati JP, McLeod DG, Heidenberg HB, Sesterhenn IA, Finger MJ, Moul JW, Srivastava S: Frequent detection of codon 877 mutation in the androgen receptor gene in advanced prostate cancers. Cancer Res. 1994 Jun 1;54(11):2861-4. [PubMed:8187068 ]
  91. Lobaccaro JM, Belon C, Lumbroso S, Olewniczack G, Carre-Pigeon F, Job JC, Chaussain JL, Toublanc JE, Sultan C: Molecular prenatal diagnosis of partial androgen insensitivity syndrome based on the Hind III polymorphism of the androgen receptor gene. Clin Endocrinol (Oxf). 1994 Mar;40(3):297-302. [PubMed:7910529 ]
  92. Lumbroso S, Lobaccaro JM, Belon C, Amram S, Bachelard B, Garandeau P, Sultan C: Molecular prenatal exclusion of familial partial androgen insensitivity (Reifenstein syndrome) Eur J Endocrinol. 1994 Apr;130(4):327-32. [PubMed:7909256 ]
  93. Imasaki K, Hasegawa T, Okabe T, Sakai Y, Haji M, Takayanagi R, Nawata H: Single amino acid substitution (840Arg-->His) in the hormone-binding domain of the androgen receptor leads to incomplete androgen insensitivity syndrome associated with a thermolabile androgen receptor. Eur J Endocrinol. 1994 Jun;130(6):569-74. [PubMed:8205256 ]
  94. Hiort O, Klauber G, Cendron M, Sinnecker GH, Keim L, Schwinger E, Wolfe HJ, Yandell DW: Molecular characterization of the androgen receptor gene in boys with hypospadias. Eur J Pediatr. 1994 May;153(5):317-21. [PubMed:8033918 ]
  95. Beitel LK, Prior L, Vasiliou DM, Gottlieb B, Kaufman M, Lumbroso R, Alvarado C, McGillivray B, Trifiro M, Pinsky L: Complete androgen insensitivity due to mutations in the probable alpha-helical segments of the DNA-binding domain in the human androgen receptor. Hum Mol Genet. 1994 Jan;3(1):21-7. [PubMed:8162033 ]
  96. Hiort O, Wodtke A, Struve D, Zollner A, Sinnecker GH: 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):1163-6. [PubMed:7981687 ]
  97. Baldazzi L, Baroncini C, Pirazzoli P, Balsamo A, Capelli M, Marchetti G, Bernardi F, Cacciari E: Two mutations causing complete androgen insensitivity: a frame-shift in the steroid binding domain and a Cys-->Phe substitution in the second zinc finger of the androgen receptor. Hum Mol Genet. 1994 Jul;3(7):1169-70. [PubMed:7981689 ]
  98. De Bellis A, Quigley CA, Marschke KB, el-Awady MK, Lane MV, Smith EP, Sar M, Wilson EM, French FS: Characterization of mutant androgen receptors causing partial androgen insensitivity syndrome. J Clin Endocrinol Metab. 1994 Mar;78(3):513-22. [PubMed:8126121 ]
  99. Tsukada T, Inoue M, Tachibana S, Nakai Y, Takebe H: An androgen receptor mutation causing androgen resistance in undervirilized male syndrome. J Clin Endocrinol Metab. 1994 Oct;79(4):1202-7. [PubMed:7962294 ]
  100. Beitel LK, Kazemi-Esfarjani P, Kaufman M, Lumbroso R, DiGeorge AM, Killinger DW, Trifiro MA, 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):546-54. [PubMed:8040309 ]
  101. Marcelli M, Zoppi S, Wilson CM, Griffin JE, McPhaul MJ: Amino acid substitutions in the hormone-binding domain of the human androgen receptor alter the stability of the hormone receptor complex. J Clin Invest. 1994 Oct;94(4):1642-50. [PubMed:7929841 ]
  102. Yong EL, Ng SC, Roy AC, Yun G, Ratnam SS: Pregnancy after hormonal correction of severe spermatogenic defect due to mutation in androgen receptor gene. Lancet. 1994 Sep 17;344(8925):826-7. [PubMed:7993455 ]
  103. Ris-Stalpers C, Hoogenboezem T, Sleddens HF, Verleun-Mooijman MC, Degenhart HJ, Drop SL, Halley DJ, Oosterwijk JC, Hodgins MB, Trapman J, et al.: A practical approach to the detection of androgen receptor gene mutations and pedigree analysis in families with x-linked androgen insensitivity. Pediatr Res. 1994 Aug;36(2):227-34. [PubMed:7970939 ]
  104. Imai A, Ohno T, Iida K, Ohsuye K, Okano Y, Tamaya T: A frame-shift mutation of the androgen receptor gene in a patient with receptor-negative complete testicular feminization: comparison with a single base substitution in a receptor-reduced incomplete form. Ann Clin Biochem. 1995 Sep;32 ( Pt 5):482-6. [PubMed:8830623 ]
  105. Takahashi H, Furusato M, Allsbrook WC Jr, Nishii H, Wakui S, Barrett JC, Boyd J: Prevalence of androgen receptor gene mutations in latent prostatic carcinomas from Japanese men. Cancer Res. 1995 Apr 15;55(8):1621-4. [PubMed:7712463 ]
  106. Davies HR, Hughes IA, Patterson MN: Genetic counselling in complete androgen insensitivity syndrome: trinucleotide repeat polymorphisms, single-strand conformation polymorphism and direct detection of two novel mutations in the androgen receptor gene. Clin Endocrinol (Oxf). 1995 Jul;43(1):69-77. [PubMed:7641413 ]
  107. Quigley CA, De Bellis A, Marschke KB, el-Awady MK, Wilson EM, French FS: Androgen receptor defects: historical, clinical, and molecular perspectives. Endocr Rev. 1995 Jun;16(3):271-321. [PubMed:7671849 ]
  108. Shkolny DL, Brown TR, Punnett HH, Kaufman M, Trifiro MA, Pinsky L: Characterization of alternative amino acid substitutions at arginine 830 of the androgen receptor that cause complete androgen insensitivity in three families. Hum Mol Genet. 1995 Apr;4(4):515-21. [PubMed:7633398 ]
  109. Belsham DD, Pereira F, Greenberg CR, Liao S, Wrogemann K: Leu-676-Pro mutation of the androgen receptor causes complete androgen insensitivity syndrome in a large Hutterite kindred. Hum Mutat. 1995;5(1):28-33. [PubMed:7537149 ]
  110. Murono K, Mendonca BB, Arnhold IJ, Rigon AC, Migeon CJ, Brown TR: Human androgen insensitivity due to point mutations encoding amino acid substitutions in the androgen receptor steroid-binding domain. Hum Mutat. 1995;6(2):152-62. [PubMed:7581399 ]
  111. Peterziel H, Culig Z, Stober J, Hobisch A, Radmayr C, Bartsch G, Klocker H, Cato AC: Mutant androgen receptors in prostatic tumors distinguish between amino-acid-sequence requirements for transactivation and ligand binding. Int J Cancer. 1995 Nov 15;63(4):544-50. [PubMed:7591265 ]
  112. Allera A, Herbst MA, Griffin JE, Wilson JD, Schweikert HU, McPhaul MJ: Mutations of the androgen receptor coding sequence are infrequent in patients with isolated hypospadias. J Clin Endocrinol Metab. 1995 Sep;80(9):2697-9. [PubMed:7673412 ]
  113. Elo JP, Kvist L, Leinonen K, Isomaa V, Henttu P, Lukkarinen O, Vihko P: Mutated human androgen receptor gene detected in a prostatic cancer patient is also activated by estradiol. J Clin Endocrinol Metab. 1995 Dec;80(12):3494-500. [PubMed:8530589 ]
  114. Gast A, Neuschmid-Kaspar F, Klocker H, Cato AC: A single amino acid exchange abolishes dimerization of the androgen receptor and causes Reifenstein syndrome. Mol Cell Endocrinol. 1995 Apr 28;111(1):93-8. [PubMed:7649358 ]
  115. Taplin ME, Bubley GJ, Shuster TD, Frantz ME, Spooner AE, Ogata GK, Keer HN, Balk SP: Mutation of the androgen-receptor gene in metastatic androgen-independent prostate cancer. N Engl J Med. 1995 May 25;332(21):1393-8. [PubMed:7723794 ]
  116. Hiort O, Sinnecker GH, Holterhus PM, Nitsche EM, Kruse K: The clinical and molecular spectrum of androgen insensitivity syndromes. Am J Med Genet. 1996 May 3;63(1):218-22. [PubMed:8723113 ]
  117. Tilley WD, Buchanan G, Hickey TE, Bentel JM: Mutations in the androgen receptor gene are associated with progression of human prostate cancer to androgen independence. Clin Cancer Res. 1996 Feb;2(2):277-85. [PubMed:9816170 ]
  118. Weidemann W, Linck B, Haupt H, Mentrup B, Romalo G, Stockklauser K, Brinkmann AO, Schweikert HU, Spindler KD: Clinical and biochemical investigations and molecular analysis of subjects with mutations in the androgen receptor gene. Clin Endocrinol (Oxf). 1996 Dec;45(6):733-9. [PubMed:9039340 ]
  119. Malmgren H, Gustavsson J, Tuvemo T, Dahl N: Rapid detection of a mutation hot-spot in the human androgen receptor. Clin Genet. 1996 Oct;50(4):202-5. [PubMed:9001799 ]
  120. Bevan CL, Brown BB, Davies HR, Evans BA, Hughes IA, Patterson MN: Functional analysis of six androgen receptor mutations identified in patients with partial androgen insensitivity syndrome. Hum Mol Genet. 1996 Feb;5(2):265-73. [PubMed:8824883 ]
  121. Choong CS, Sturm MJ, Strophair JA, McCulloch RK, Tilley WD, Leedman PJ, Hurley DM: Partial androgen insensitivity caused by an androgen receptor mutation at amino acid 907 (Gly-->Arg) that results in decreased ligand binding affinity and reduced androgen receptor messenger ribonucleic acid levels. J Clin Endocrinol Metab. 1996 Jan;81(1):236-43. [PubMed:8550758 ]
  122. Lumbroso S, Lobaccaro JM, Georget V, Leger J, Poujol N, Terouanne B, Evain-Brion D, Czernichow P, Sultan C: A novel substitution (Leu707Arg) in exon 4 of the androgen receptor gene causes complete androgen resistance. J Clin Endocrinol Metab. 1996 May;81(5):1984-8. [PubMed:8626869 ]
  123. Rodien P, Mebarki F, Mowszowicz I, Chaussain JL, Young J, Morel Y, Schaison G: Different phenotypes in a family with androgen insensitivity caused by the same M780I point mutation in the androgen receptor gene. J Clin Endocrinol Metab. 1996 Aug;81(8):2994-8. [PubMed:8768864 ]
  124. Choong CS, Quigley CA, French FS, Wilson EM: A novel missense mutation in the amino-terminal domain of the human androgen receptor gene in a family with partial androgen insensitivity syndrome causes reduced efficiency of protein translation. J Clin Invest. 1996 Sep 15;98(6):1423-31. [PubMed:8823308 ]
  125. Bruggenwirth HT, Boehmer AL, Verleun-Mooijman MC, Hoogenboezem T, Kleijer WJ, Otten BJ, Trapman J, Brinkmann AO: Molecular basis of androgen insensitivity. J Steroid Biochem Mol Biol. 1996 Aug;58(5-6):569-75. [PubMed:8918984 ]
  126. Sutherland RW, Wiener JS, Hicks JP, Marcelli M, Gonzales ET Jr, Roth DR, Lamb DJ: Androgen receptor gene mutations are rarely associated with isolated penile hypospadias. J Urol. 1996 Aug;156(2 Pt 2):828-31. [PubMed:8683794 ]
  127. Lobaccaro JM, Poujol N, Chiche L, Lumbroso S, Brown TR, Sultan C: Molecular modeling and in vitro investigations of the human androgen receptor DNA-binding domain: application for the study of two mutations. Mol Cell Endocrinol. 1996 Feb 5;116(2):137-47. [PubMed:8647313 ]
  128. Imasaki K, Okabe T, Murakami H, Tanaka Y, Haji M, Takayanagi R, Nawata H: Androgen insensitivity syndrome due to new mutations in the DNA-binding domain of the androgen receptor. Mol Cell Endocrinol. 1996 Jun 18;120(1):15-24. [PubMed:8809734 ]
  129. Evans BA, Harper ME, Daniells CE, Watts CE, Matenhelia S, Green J, Griffiths K: Low incidence of androgen receptor gene mutations in human prostatic tumors using single strand conformation polymorphism analysis. Prostate. 1996 Mar;28(3):162-71. [PubMed:8628719 ]
  130. Suzuki H, Akakura K, Komiya A, Aida S, Akimoto S, Shimazaki J: Codon 877 mutation in the androgen receptor gene in advanced prostate cancer: relation to antiandrogen withdrawal syndrome. Prostate. 1996 Sep;29(3):153-8. [PubMed:8827083 ]
  131. Boehmer AL, Brinkmann AO, Niermeijer MF, Bakker L, Halley DJ, Drop SL: Germ-line and somatic mosaicism in the androgen insensitivity syndrome: implications for genetic counseling. Am J Hum Genet. 1997 Apr;60(4):1003-6. [PubMed:9106550 ]
  132. Koivisto P, Kononen J, Palmberg C, Tammela T, Hyytinen E, Isola J, Trapman J, Cleutjens K, Noordzij A, Visakorpi T, Kallioniemi OP: Androgen receptor gene amplification: a possible molecular mechanism for androgen deprivation therapy failure in prostate cancer. Cancer Res. 1997 Jan 15;57(2):314-9. [PubMed:9000575 ]
  133. Tincello DG, Saunders PT, Hodgins MB, Simpson NB, Edwards CR, Hargreaves TB, Wu FC: Correlation of clinical, endocrine and molecular abnormalities with in vivo responses to high-dose testosterone in patients with partial androgen insensitivity syndrome. Clin Endocrinol (Oxf). 1997 Apr;46(4):497-506. [PubMed:9196614 ]
  134. Essawi M, Gad YZ, el-Rouby O, Temtamy SA, Sabour YA, el-Awady MK: Molecular analysis of androgen resistance syndromes in Egyptian patients. Dis Markers. 1997 Apr;13(2):99-105. [PubMed:9160185 ]
  135. Sinnecker GH, Hiort O, Nitsche EM, Holterhus PM, Kruse K: Functional assessment and clinical classification of androgen sensitivity in patients with mutations of the androgen receptor gene. German Collaborative Intersex Study Group. Eur J Pediatr. 1997 Jan;156(1):7-14. [PubMed:9007482 ]
  136. Jakubiczka S, Nedel S, Werder EA, Schleiermacher E, Theile U, Wolff G, Wieacker P: Mutations of the androgen receptor gene in patients with complete androgen insensitivity. Hum Mutat. 1997;9(1):57-61. [PubMed:8990010 ]
  137. Watanabe M, Ushijima T, Shiraishi T, Yatani R, Shimazaki J, Kotake T, Sugimura T, Nagao M: Genetic alterations of androgen receptor gene in Japanese human prostate cancer. Jpn J Clin Oncol. 1997 Dec;27(6):389-93. [PubMed:9438000 ]
  138. Wang C, Uchida T: [Androgen receptor gene mutations in prostate cancer]. Nihon Hinyokika Gakkai Zasshi. 1997 May;88(5):550-6. [PubMed:9184448 ]
  139. Komori S, Sakata K, Tanaka H, Shima H, Koyama K: DNA analysis of the androgen receptor gene in two cases with complete androgen insensitivity syndrome. J Obstet Gynaecol Res. 1997 Jun;23(3):277-81. [PubMed:9255042 ]
  140. Albers N, Ulrichs C, Gluer S, Hiort O, Sinnecker GH, Mildenberger H, Brodehl J: Etiologic classification of severe hypospadias: implications for prognosis and management. J Pediatr. 1997 Sep;131(3):386-92. [PubMed:9329414 ]
  141. Ko TM, Yang YS, Wu MY, Kao CH, Hsu PM, Chuang SM, Lee TY: Complete androgen insensitivity syndrome. Molecular characterization in two Chinese women. J Reprod Med. 1997 Jul;42(7):424-8. [PubMed:9252933 ]
  142. Bevan CL, Hughes IA, Patterson MN: Wide variation in androgen receptor dysfunction in complete androgen insensitivity syndrome. J Steroid Biochem Mol Biol. 1997 Apr;61(1-2):19-26. [PubMed:9328206 ]
  143. Radmayr C, Culig Z, Glatzl J, Neuschmid-Kaspar F, Bartsch G, Klocker H: Androgen receptor point mutations as the underlying molecular defect in 2 patients with androgen insensitivity syndrome. J Urol. 1997 Oct;158(4):1553-6. [PubMed:9302173 ]
  144. Komori S, Kasumi H, Sakata K, Tanaka H, Hamada K, Koyama K: Molecular analysis of the androgen receptor gene in 4 patients with complete androgen insensitivity. Arch Gynecol Obstet. 1998;261(2):95-100. [PubMed:9544375 ]
  145. Cabral DF, Maciel-Guerra AT, Hackel C: Mutations of androgen receptor gene in Brazilian patients with male pseudohermaphroditism. Braz J Med Biol Res. 1998 Jun;31(6):775-8. [PubMed:9698822 ]
  146. Wang Q, Ghadessy FJ, Yong EL: Analysis of the transactivation domain of the androgen receptor in patients with male infertility. Clin Genet. 1998 Sep;54(3):185-92. [PubMed:9788719 ]
  147. Tanaka H, Komori S, Sakata K, Shima H, Koyama K: One additional mutation at exon A amplifies thermolability of androgen receptor in a case with complete androgen insensitivity syndrome. Gynecol Endocrinol. 1998 Apr;12(2):75-82. [PubMed:9610419 ]
  148. Lundberg Giwercman Y, Nikoshkov A, Lindsten K, Bystrom B, Pousette A, Chibalin AV, Arvidsson S, Tiulpakov A, Semitcheva TV, Peterkova V, Hagenfeldt K, Ritzen EM, Wedell A: Functional characterisation of mutations in the ligand-binding domain of the androgen receptor gene in patients with androgen insensitivity syndrome. Hum Genet. 1998 Oct;103(4):529-31. [PubMed:9856504 ]
  149. Dork T, Schnieders F, Jakubiczka S, Wieacker P, Schroeder-Kurth T, Schmidtke J: A new missense substitution at a mutational hot spot of the androgen receptor in siblings with complete androgen insensitivity syndrome. Hum Mutat. 1998;11(4):337-9. [PubMed:9554754 ]
  150. Nordenskjold A, Soderhall S: An androgen receptor gene mutation (A645D) in a boy with a normal phenotype. Hum Mutat. 1998;11(4):339. [PubMed:9554755 ]
  151. Weidemann W, Peters B, Romalo G, Spindler KD, Schweikert HU: Response to androgen treatment in a patient with partial androgen insensitivity and a mutation in the deoxyribonucleic acid-binding domain of the androgen receptor. J Clin Endocrinol Metab. 1998 Apr;83(4):1173-6. [PubMed:9543136 ]
  152. Georget V, Terouanne B, Lumbroso S, Nicolas JC, Sultan C: Trafficking of androgen receptor mutants fused to green fluorescent protein: a new investigation of partial androgen insensitivity syndrome. J Clin Endocrinol Metab. 1998 Oct;83(10):3597-603. [PubMed:9768671 ]
  153. Wang Q, Ghadessy FJ, Trounson A, de Kretser D, McLachlan R, Ng SC, Yong EL: Azoospermia associated with a mutation in the ligand-binding domain of an androgen receptor displaying normal ligand binding, but defective trans-activation. J Clin Endocrinol Metab. 1998 Dec;83(12):4303-9. [PubMed:9851768 ]
  154. Hiort O, Sinnecker GH, Holterhus PM, Nitsche EM, Kruse K: Inherited and de novo androgen receptor gene mutations: investigation of single-case families. J Pediatr. 1998 Jun;132(6):939-43. [PubMed:9627582 ]
  155. Yong EL, Tut TG, Ghadessy FJ, Prins G, Ratnam SS: Partial androgen insensitivity and correlations with the predicted three dimensional structure of the androgen receptor ligand-binding domain. Mol Cell Endocrinol. 1998 Feb;137(1):41-50. [PubMed:9607727 ]
  156. Knoke I, Jakubiczka S, Lehnert H, Wieacker P: A new point mutation of the androgen receptor gene in a patient with partial androgen resistance and severe oligozoospermia. Andrologia. 1999 Jul;31(4):199-201. [PubMed:10470409 ]
  157. Taplin ME, Bubley GJ, Ko YJ, Small EJ, Upton M, Rajeshkumar B, Balk SP: Selection for androgen receptor mutations in prostate cancers treated with androgen antagonist. Cancer Res. 1999 Jun 1;59(11):2511-5. [PubMed:10363963 ]
  158. Melo KF, Latronico AC, Costa EM, Billerbeck AE, Mendonca BB, Arnhold IJ: A novel point mutation (R840S) in the androgen receptor in a Brazilian family with partial androgen insensitivity syndrome. Hum Mutat. 1999 Oct;14(4):353. [PubMed:10502786 ]
  159. Gottlieb B, Vasiliou DM, Lumbroso R, Beitel LK, Pinsky L, Trifiro MA: Analysis of exon 1 mutations in the androgen receptor gene. Hum Mutat. 1999;14(6):527-39. [PubMed:10571951 ]
  160. Chen CP, Chern SR, Wang TY, Wang W, Wang KL, Jeng CJ: Androgen receptor gene mutations in 46,XY females with germ cell tumours. Hum Reprod. 1999 Mar;14(3):664-70. [PubMed:10221692 ]
  161. Kanayama H, Naroda T, Inoue Y, Kurokawa Y, Kagawa S: A case of complete testicular feminization: laparoscopic orchiectomy and analysis of androgen receptor gene mutation. Int J Urol. 1999 Jun;6(6):327-30. [PubMed:10404311 ]
  162. Shkolny DL, Beitel LK, Ginsberg J, Pekeles G, Arbour L, Pinsky L, Trifiro MA: Discordant measures of androgen-binding kinetics in two mutant androgen receptors causing mild or partial androgen insensitivity, respectively. J Clin Endocrinol Metab. 1999 Feb;84(2):805-10. [PubMed:10022458 ]
  163. Wallen MJ, Linja M, Kaartinen K, Schleutker J, Visakorpi T: Androgen receptor gene mutations in hormone-refractory prostate cancer. J Pathol. 1999 Dec;189(4):559-63. [PubMed:10629558 ]
  164. Zhao XY, Boyle B, Krishnan AV, Navone NM, Peehl DM, Feldman D: Two mutations identified in the androgen receptor of the new human prostate cancer cell line MDA PCa 2a. J Urol. 1999 Dec;162(6):2192-9. [PubMed:10569618 ]
  165. Ong YC, Wong HB, Adaikan G, Yong EL: Directed pharmacological therapy of ambiguous genitalia due to an androgen receptor gene mutation. Lancet. 1999 Oct 23;354(9188):1444-5. [PubMed:10543676 ]
  166. Peters I, Weidemann W, Romalo G, Knorr D, Schweikert HU, Spindler KD: An androgen receptor mutation in the direct vicinity of the proposed C-terminal alpha-helix of the ligand binding domain containing the AF-2 transcriptional activating function core is associated with complete androgen insensitivity. Mol Cell Endocrinol. 1999 Feb 25;148(1-2):47-53. [PubMed:10221770 ]
  167. Nazareth LV, Stenoien DL, Bingman WE 3rd, James AJ, Wu C, Zhang Y, Edwards DP, Mancini M, Marcelli M, Lamb DJ, Weigel NL: A C619Y mutation in the human androgen receptor causes inactivation and mislocalization of the receptor with concomitant sequestration of SRC-1 (steroid receptor coactivator 1) Mol Endocrinol. 1999 Dec;13(12):2065-75. [PubMed:10598582 ]
  168. Holterhus PM, Wiebel J, Sinnecker GH, Bruggenwirth HT, Sippell WG, Brinkmann AO, Kruse K, Hiort O: Clinical and molecular spectrum of somatic mosaicism in androgen insensitivity syndrome. Pediatr Res. 1999 Dec;46(6):684-90. [PubMed:10590024 ]
  169. Yaegashi N, Uehara S, Senoo M, Sato J, Fujiwara J, Funato T, Sasaki T, Yajima A: Point mutations in the steroid-binding domain of the androgen receptor gene of five Japanese patients with androgen insensitivity syndrome. Tohoku J Exp Med. 1999 Mar;187(3):263-72. [PubMed:10458483 ]
  170. Nordenskjold A, Friedman E, Tapper-Persson M, Soderhall C, Leviav A, Svensson J, Anvret M: Screening for mutations in candidate genes for hypospadias. Urol Res. 1999;27(1):49-55. [PubMed:10092153 ]
  171. Marcelli M, Ittmann M, Mariani S, Sutherland R, Nigam R, Murthy L, Zhao Y, DiConcini D, Puxeddu E, Esen A, Eastham J, Weigel NL, Lamb DJ: Androgen receptor mutations in prostate cancer. Cancer Res. 2000 Feb 15;60(4):944-9. [PubMed:10706109 ]
  172. Ahmed SF, Cheng A, Dovey L, Hawkins JR, Martin H, Rowland J, Shimura N, Tait AD, Hughes IA: Phenotypic features, androgen receptor binding, and mutational analysis in 278 clinical cases reported as androgen insensitivity syndrome. J Clin Endocrinol Metab. 2000 Feb;85(2):658-65. [PubMed:10690872 ]
  173. Chavez B, Mendez JP, Ulloa-Aguirre A, Larrea F, Vilchis F: Eight novel mutations of the androgen receptor gene in patients with androgen insensitivity syndrome. J Hum Genet. 2001;46(10):560-5. [PubMed:11587068 ]
  174. Ellis JA, Stebbing M, Harrap SB: Polymorphism of the androgen receptor gene is associated with male pattern baldness. J Invest Dermatol. 2001 Mar;116(3):452-5. [PubMed:11231320 ]
  175. Sills ES, Sholes TE, Perloe M, Kaplan CR, Davis JG, Tucker MJ: Characterization of a novel receptor mutation A-->T at exon 4 in complete androgen insensitivity syndrome and a carrier sibling via bidirectional polymorphism sequence analysis. Int J Mol Med. 2002 Jan;9(1):45-8. [PubMed:11744994 ]
  176. Hillmer AM, Hanneken S, Ritzmann S, Becker T, Freudenberg J, Brockschmidt FF, Flaquer A, Freudenberg-Hua Y, Jamra RA, Metzen C, Heyn U, Schweiger N, Betz RC, Blaumeiser B, Hampe J, Schreiber S, Schulze TG, Hennies HC, Schumacher J, Propping P, Ruzicka T, Cichon S, Wienker TF, Kruse R, Nothen MM: Genetic variation in the human androgen receptor gene is the major determinant of common early-onset androgenetic alopecia. Am J Hum Genet. 2005 Jul;77(1):140-8. Epub 2005 May 18. [PubMed:15902657 ]
  177. Echaniz-Laguna A, Rousso E, Anheim M, Cossee M, Tranchant C: A family with early-onset and rapidly progressive X-linked spinal and bulbar muscular atrophy. Neurology. 2005 Apr 26;64(8):1458-60. [PubMed:15851746 ]
  178. Jaaskelainen J, Deeb A, Schwabe JW, Mongan NP, Martin H, Hughes IA: Human androgen receptor gene ligand-binding-domain mutations leading to disrupted interaction between the N- and C-terminal domains. J Mol Endocrinol. 2006 Apr;36(2):361-8. [PubMed:16595706 ]