An examination of how different mutations at arginine 855 of the androgen receptor result in different androgen insensitivity phenotypes

Molecular Endocrinology

Volumn 18, Issue 8, 2004, Pages 1876-1886

  Elhaji, Youssef A ^a,b   Jian, Hui Wu ^a,b   Gottlieb, Bruce ^a   Beitel, Lenore K ^a,b   Alvarado, Carlos ^a   Batist, Gerald ^a,b   Trifiro, Mark A ^a,b  

^a MCGILL UNIVERSITY   (Canada)

^b MCGILL UNIVERSITY   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ANDROGEN RECEPTOR; ARGININE; CELL NUCLEUS RECEPTOR;

ADULT; AMINO ACID SUBSTITUTION; AMINO TERMINAL SEQUENCE; ANDROGEN INSENSITIVITY SYNDROME; ANIMAL CELL; ARTICLE; BINDING AFFINITY; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CONTROLLED STUDY; DISSOCIATION CONSTANT; EQUILIBRIUM CONSTANT; FEMALE; GENE MUTATION; GENETIC TRANSFECTION; GENITAL SYSTEM; HUMAN; HUMAN CELL; INFANT; LIGAND BINDING; MALE; MATHEMATICAL MODEL; MOLECULAR MECHANICS; NONHUMAN; PHENOTYPIC VARIATION; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN PROTEIN INTERACTION; SKIN FIBROBLAST; STATISTICAL SIGNIFICANCE; STRUCTURE ACTIVITY RELATION; TRANSACTIVATION;

ADULT; ANDROGEN-INSENSITIVITY SYNDROME; ANDROGENS; ANIMALS; ARGININE; CELL LINE; CERCOPITHECUS AETHIOPS; CRYSTALLOGRAPHY, X-RAY; FEMALE; HUMANS; INFANT; MALE; MODELS, MOLECULAR; MUTATION; PHENOTYPE; PROTEIN STRUCTURE, TERTIARY; RECEPTORS, ANDROGEN; TEMPERATURE; TRANS-ACTIVATION (GENETICS);

ANIMALIA;

EID: 3543064168     PISSN: 08888809     EISSN: None     Source Type: Journal    
DOI: 10.1210/me.2004-0023     Document Type: Article

References (57)

1. 2-terminal and carboxyl-terminal sequences. J Biol Chem 269:13115-13123
2. Quigley CA, De Bellis A, Marschke KB, El-Awady MK, Wilson EM, French FS 1995 Androgen receptor defects: historical, clinical, and molecular perspectives. Endocr Rev 16:271-321
3. Gottlieb B, Pinsky L, Beitel LK, Trifiro M 1999 Androgen insensitivity. Am J Med Genet 89:210-217
4. Gottlieb B, Beitel LK, Lumbroso R, Pinsky L, Trifiro M 1999 Update of the androgen receptor gene mutations database. Hum Mutat 14:103-114
5. Boehmer AL, Brinkmann O, Brüggenwirth H, van Assendelft C, Otten BJ, Verleun-Mooijman MCT, Niermeijer MF, Brunner HG, Rouwé CW, Waelkens JJ, Oostdijk W, Kleijer WJ, van der Kwast TH, de Vroede MA, Drop SLS 2001 Genotype versus phenotype in families with androgen insensitivity syndrome. J Clin Endocrinol Metab [Erratum (2002) 87:3109] 86:4151-4160
6. Gottlieb B, Beitel LK, Trifiro MA 2001 Variable expressivity and mutation databases: the androgen receptor gene mutations database. Hum Mutat 17:382-388
7. Matias PM, Donner P, Coelho R, Thomas M, Peixoto C, Macedo S, Otto N, Joscho S, Scholtz P, Wegg A, Abasler S, Schafer M, Engers U, Carrondo MA 2000 Structural evidence for ligand specificity in the binding domain of the human androgen receptor. Implications for pathogenic gene mutations. J Biol Chem 275:26164-26171
8. Sack JS, Kish KF, Wang C, Attar RM, Kiefer SE, Yongmi A, Wu GY, Scheffler JE, Salvati ME, Krystek Jr SR, Roberto W, Einspahr HM 2001 Crystallographic structures of the ligand-binding domains of the androgen receptor and its T877A mutant complexed with the natural agonist dihydrotestosterone. Proc Natl Acad Sci USA 98:4904-4909
9. Wagner RL, Apriletti, JW, McGrath ME, West BL, Baxter JD, Fletterick RJ 1995 A structural role for hormone in the thyroid hormone receptor. Nature 378:690-697
10. Parker MG, White R 1996 Nuclear receptors spring into action. Nat Struct Biol 3:113-115
11. Brzozowski, AM, Pike AC, Dauter Z, Hubbard RE, Bonn T, Engström O, Öhman L, Greene GL, Gustafsson J-Å, Carlquist M 1997 Molecular basis of agonism and antagonism in the oestrogen receptor. Nature 389:753-758
12. Williams SP, Sigler PB 1998 Atomic structure of progesterone complexed with its receptor. Nature 393:392-396
13. Feng W, Ribeiro RC, Wagner RL, Nguyen H, Apriletti JW, Fletterick RJ, Baxter JD, Kushner PJ, West BL 1998 Hormone-dependent coactivator binding to a hydrophobic cleft on nuclear receptors. Science 280:1747-1749
14. Weatherman RV, Fletterick RJ, Scanlan TS 1999 Nuclear-receptor ligands and ligand-binding domains. Annu Rev Biochem 68:559-581
15. Whitfield GK, Jurutka PW, Haussler CA, Haussler MR 1999 Steroid hormone receptors: evolution, ligands, and molecular basis of biologic function. J Cell Biochem(Suppl 32-33):110-122
16. 2-terminal domain. J Biol Chem 274:37219-37225
17. 2-terminal interaction with the ligand binding domain of the androgen receptor. J Biol Chem 275:22986-22994
18. Heery DM, Kalkhoven E, Hoare S, Parker MG 1997 A signature motif in transcriptional co-activators mediates binding to nuclear receptors. Nature 387:733-736
19. Ma H, Hong H, Huang SM, Irvine RA, Webb P, Kushner PJ, Coetzee GA, Stallcup MR 1999 Multiple signal input and output domains of the 160-kilodalton nuclear receptor coactivator proteins. Mol Cell Biol 19:6164-6173
20. Hong H, Darimont BD, Ma H, Yang L, Yamamoto KR, Stallcup MR 1999 An additional region of coactivator GRIP1 required for interaction with the hormone-binding domains of a subset of nuclear receptors. J Biol Chem 274:3496-3502
21. Lim J, Ghadessy FJ, Abdullah AAR, Pinsky L, Trifiro M, Yong EL 2000 Human androgen receptor mutation disrupts ternary interactions between ligand, receptor domains, and the coactivator TIF2 (transcription intermediary factor 2). Mol Endocrinol 14:1187-1197
22. Egea PF, Klaholz BP, Moras D 2000 Ligand-protein interactions in nuclear receptors of hormones. FEBS Lett 476:62-67
23. Kallenberger BC, Love JD, Chatterjee KK, Schwabe JWR 2003 A dynamic mechanism of nuclear receptor activation and its perturbation in a human disease. Nat Struct Biol 10:136-140
24. Vitkup D, Ringe D, Petsko GA, Karplus M 2000 Solvent mobility and the protein glass transition. Nat Struct Biol 7:34-38
25. Young MA, Gonfloni S, Superti-Furga G, Roux B, Kuriyan J 2001 Dynamic coupling between the SH2 and SH3 domains of c-Src and hck underlies their inaction by C-terminal tyrosine phosphorylation. Cell 105:115-126
26. Qiu D, Shenkin PS, Hollinger FP, Still WC 1997 The GB/SA continuum model for solvation. A fast analytical method for the calculation of approximate Born radii. J Phys Chem A 101:3005-3014
27. Tsui V, Case DA 2001 Theory and applications of the generalized Born solvation model in macromolecular simulations. Biopolymers 56:275-291
28. Cornell W, Abseher R, Nilges M, Case DA 2001 Continuum solvent molecular dynamics study of flexibility in interleukin-8. J Mol Graph Model 19:136-145
29. Bursulaya BD, Brooks III CL 2000 Comparative study of the folding free energy landscape of a three-stranded β-sheet protein with explicit and implicit solvent models. J Phys Chem B 104:12378-12383
30. Case DA, Pearlman DA, Caldwell JW, Cheatam III TE, Wang J, Ross WS, Simmerling CL, Darden TA, Merz KM, Stanton RV 2002. AMBER 7 user manual. San Francisco: University of California, San Francisco
31. Wu JH, Gottlieb B, Batist G, Sulea T, Purisima EO, Beitel LK, Trifiro M 2003 Bridging structural biology and genetics by computational methods: an investigation into how the R774C mutation in the AR gene can result in complete androgen insensitivity syndrome. Hum Mutat 22: 465-475
32. Griffin JE, Durrant JL 1982 Qualitative receptor defects in families with androgen resistance: failure of stabilization of the fibroblast cytosol androgen receptor. J Clin Endocrinol Metab 55:465-474
33. Bledsoe RK, Montana VG, Stanley TB, Delves CJ, Apolito CJ, McKee DD, Consler TG, Parks DJ, Stewart EL, Willson TM, Lambert MH, Moore JT, Pearce KH, Xu HE 2002 Crystal structure of the glucocorticoid receptor ligand binding domain reveals a novel mode of receptor dimerization and coactivator recognition. Cell 110:93-105
34. Tahiri B, Auzou G, Nicolas JC, Sultan C, Lupo B 2001 Participation of critical residues from the extreme C-terminal end of the human androgen receptor in the ligand binding function. Biochemistry 40:8431-8437
35. McPhaul MJ, Marcelli M, Zoppi S, Wilson CM, Griffin JE, Wilson JD 1992 Mutations in the ligand-binding domain of the androgen receptor gene cluster in two regions of the gene. J Clin Invest 90:2097-2101
36. Brinkmann AO, Jenster G, Ris-Stalpers C, van der Korput JA, Bruggenwirth HT, Boehmer AL, Trapman J 1995 Androgen receptor mutations. J Steroid Biochem Mol Biol 53:443-448
37. Ahmed SF, Cheng A, Dovey L, Hawkins JR, Martin H, Rowland J, Shimura N, Tait AD, Hughes IA 2000 Phenotypic features, androgen receptor binding, and mutational analysis in 278 clinical cases reported as androgen insensitivity syndrome. J Clin Endocrinol Metab 85:658-665
38. Marcelli M, Tilley WD, Zoppi S, Griffin JE, Wilson JD, McPhaul MJ 1992 Molecular basis of androgen resistance. J Endocrinol Invest 15:149-159
39. Weidemann W, Linck B, Haupt H, Mentrup B, Romalo G, Stockklauser K, Brinkmann AO, Schweikert HU, Spindler KD 1996 Clinical and biochemical investigations and molecular analysis of subjects with mutations in the androgen receptor gene. Clin Endocrinol (Oxf) 45:733-739
40. Boehmer AL, Brinkmann AO, Niermeijer MF, Bakker L, Halley DJ, Drop SL 1997 Germ-line and somatic mosaicism in the androgen insensitivity syndrome: implications for genetic counseling. Am J Hum Genet 60:1003-1006
41. Batch JA, Williams DM, Davies HR, Brown BD, Evans BA, Hughes IA, Patterson MN 1992 Androgen receptor gene mutations identified by SSCP in fourteen subjects with androgen insensitivity syndrome. Hum Mol Genet 1:497-503
42. Hiort O, Sinnecker GH, Holterhus PM, Nitsche EM, Kruse K 1996 The clinical and molecular spectrum of androgen insensitivity syndromes. Am J Med Genet 63:218-222
43. Beitel LK, Kazemi-Esfarjani P, Kaufman M, Lumbroso R, DiGeorge AM, Killinger DW, Trifiro MA, Pinsky L 1994 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 94:546-554
44. Wurtz JM, Bourguet W, Renaud JP, Vivat V, Chambon P, Moras D, Gronemeyer H 1996 A canonical structure for the ligand-binding domain of nuclear receptors. Nat Struct Biol [Erratum (1996) 3:206] 3:87-94
45. Vaisanen S, Perakyla, M, Karkkainen JI, Steinmeyer A, Carlberg C 2002 Critical role of helix 12 of the vitamin D3 receptor for the partial agonism of carboxylic ester antagonists. J Mol Biol 315:229-238
46. Pearce ST, Liu H, Jordan VC 2003 Modulation of estrogen receptor α function and stability by tamoxifen and a critical amino acid (Asp-538) in helix 12. J Biol Chem 278:7630-7638
47. Kauppi B, Jakob C, Farnegardh M, Yang J, Ahola H, Alarcon M, Calles K, Engstrom O, Harlan J, Muchmore S, Ramqvist A-K, Thorell S, Ohman L, Greer J, Gustafsson J-A, Carlstedt-Duke J, Carlsquist M 2003 The three-dimensional structures of antagonistic and agonistic forms of the glucocorticoid receptor ligand-binding domain. J Biol Chem 278:22748-22754
48. Berrevoets CA, Doesburg P, Steketee K, Trapman J, Brinkmann AO 1998 Functional interactions of the AF-2 activation domain core region of the human androgen receptor with the amino-terminal domain and with the transcriptional coactivator TIF2 (transcriptional intermediary factor 2). Mol Endocrinol 12:1172-1183
49. McKenna NJ, O'Malley 2002 Minireview: nuclear receptor coactivators - an update. Endocrinology 143:2461-2465
50. Heinlein CA, Chang C 2002 Androgen receptor (AR) coregulators: an overview. Endocr Rev 23:175-200
51. Ghadessy FJ, Lim J, Abdullah AA, Panet-Raymond V, Choo CK, Lumbroso R, Tut TG, Gottlieb B, Pinsky L, Trifiro MA, Yong EL 1999 Oligospermic infertility associated with an androgen receptor mutation that disrupts interdomain and coactivator (TIF2) interactions. J Clin Invest 103:1517-1525
52. Ghali SA, Gottlieb B, Lumbroso R, Beitel LK, Elhaji Y, Wu JH, Pinsky L, Trifiro MA 2003 The use of androgen receptor amino/carboxyl-terminal interaction assays to investigate androgen receptor gene mutations in subjects with varying degrees of androgen insensitivity. J Clin Endocrinol Metab 88:2185-2193
53. He B, Wilson EM 2003 Electrostatic modulation in steroid receptor recruitment of LXXLL and FXXLF motifs. Mol Cell Biol 23:2135-2150
54. Gregory CW, He B, Johnson RT, Ford OH, Mohler JL, French FS, Wilson EM 2001 A mechanism for androgen receptor-mediated prostate cancer recurrence after androgen deprivation therapy. Cancer Res 61:4315-4319
55. Trifiro M, Prior RL, Sabbaghian N, Pinsky L, Kaufman M, Nylen EG, Belsham DD, Greenberg CR, Wrogemann K 1991 Amber mutation creates a diagnostic Mael site in the androgen receptor gene of a family with complete androgen insensitivity. Am J Med Genet 40:493-499
56. Wang J, Cieplak P, Kollman PA 2000 How well does a restrained electrostatic potential (RESP) model perform in calculating conformational energies of organic and biological molecules? J Comput Chem 21: 1049-1074
57. Onufriev A, Bashford D, Case DA 2000 Modification of the generalized Born model suitable for macromolecules. J Phys Chem B 104:3712-3720