Androgen receptor mutations

Barrack ER. Androgen receptor mutations in prostate cancer. Mt Sinai J Med 1996 63(5-6) 403-412. 

Taplin, M.E., Bubley, G.J., Ko, Y.J., Small, E.J., Upton, M., Rajeshkumar, B. and Balk, S.P. (1999) Selection for androgen receptor mutations in prostate cancers treated with androgen antagonist. Cancer Research, 59, 2511-2515. 

Sanchez D, Rosell D, Honorato B, et al. Androgen receptor mutations are associated with Gleason score in localized prostate cancer. B]U Int. 2006 98 1320. 

M. Marcelli, M. Ittmann, S. Mariani, R. Sutherland, R. Nigam, L. Murthy, Y.L. Zhao, D. DiConcini, E. Puxeddu, A. Esen, J. Eastham, N.L. Weigel, D.J. Lamb, Androgen receptor mutations in prostate cancer, Cancer Res. 2000, 60, 944-949. 

Genetic Familial prostate cancer is inherited in an autosomal dominant manner. Mutations in p53, Rb, E-cahedrin, a-catenin, androgen receptor, KAII, microsatellite instability, loss of heterozygocity at 1, 2q, 12p, 15q, 16p, and 16q. Candidate prostate cancer gene locus identified on chromosome 1. 

La Spada, A. R., Wilson, E.M., Lubahn, D.B. et al Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 352 77-79,1991. 

Another motor neuron disease, which is rare and x-linked inheritance, shows certain similarities with ALS but has a much more benign course. It is so-called Kennedy s disease or x-linked spino-bulbar muscular atrophy (X-SBMA). It is caused by a mutation of the androgen receptor gene. A progressive spinal. 

Androgen Receptor http //androgendb. Mutations and pheno-... 

PRMTl, a nuclear receptor coactivator, exists as in a 330 kDa complex and is a H4 Arg-3 methyltransferase [133,215]. The enzyme appears to be a chromatin bound, and evidence from immunodepletion and knockout studies suggest that it is the principle, if not sole, H4 Arg-3 methyltransferase [133,215]. Mutation of the S-adenosyl methionine binding site in PRMTl annihilated its nuclear receptor coactivator activity with the androgen receptor, providing evidence for the importance of the methylation event in gene expression [215]. Yeast Rmtl, which is homologous to human PRMTl, methylates Arg-3 only in free H4 [208]. 

Hirawat S, Budman DR, Kreis W. The androgen receptor structure, mutations, and antiandrogens. Cancer Invest. 2003 21 400M-17. 

G. Genster, C. Berrevoets, E. Classen, H.C.J. vanRooij, J. Trapman, A.O. Brinkmann, E. Mulder, A Mutation in the Ligand Binding Domain of the Androgen Receptor of Human LNCAP Cells Affects Steroid Binding Characteristics and Response to Antiandrogens , Biochem. Biophys. Res. Commun., 173, 534-540 (1990). 

W. J. Computational Models for Predicting the Binding Affinities of Ligands for the Wild-type Androgen Receptor and a Mutated Variant Associated with Human Prostate Cancer. Chem. Res. Toxicd. 

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 198(l) 74-80. 

Gottlieb B, Trifiro M, Lumbroso R, Pinsky L. The androgen receptor gene mutations database. Nucleic Acids Res 1997 25(1) 158 162. 

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 332(21) 1393—1398. 

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 2(2) 277-285. 

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 173(2) 534-540. 

Veldscholte J, Berrevoets CA, Brinkmann AO, Grootegoed JA, Mulder E. Anti-androgens and the mutated androgen receptor of LNCaP cells differential effects on binding affinity, heat-shock protein interaction, and transcription activation. Biochemistry 1992 31 (8) 2393—2399. 

Kll. Koivisto, P. A., and Rantala, I., Amplification of the androgen receptor gene is associated with P53 mutation in hormone-refractory recurrent prostate cancer. J. Pathol. 187, 237-241 (1999). 

N3. Newmark, J. R., Hardy, D. O., Tonb, D. C., Carter, B. S., Epstein, J. I., etal., Androgen receptor gene structure mutations in human prostate cancer. Proc. Natl. Acad. Sci. (USA) 89,6319-6323 (1992). 

Suzuki, H., Akakura, K., Komiya, A., Aida, S., Akimoto, S., and Shimazaki, J., Codon 877 mutation in the androgen receptor gene in advanced prostate cancer relation to antiandrogen withdrawal syndrome. Prostate 29, 153-158 (1996). 

Suzuki, H, Sato, N., Watabe, Y., Masai, M., Seino, S., and Shimazaki, J., Androgen receptor gene mutations in human prostate cancer. J. Steroid Biochem. Mol. Biol. 46, 759—765 (1993). 

V6. Veldscholte, J., Berrevoets, C. A., Ris-Stalpers, C., Kuiper, G. G., Jenster, G., et al, 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. 

Wegg, a., Basler, S., Schaeer, M., Eg-NER, U., Carrondo, M.A. Stmctural evidence for ligand specificity in the binding domain of the human androgen receptor Implications for pathogenic gene mutations. J. Biol. Chem. 2000, 275, 26164-26171. 

Amato AA, Prior TW, Barohn RJ, Snyder P, Papp A, MendeU JR (1993) Kennedy s disease a cUnicopathologic correlation with mutations in the androgen receptor gene. Neurology 43 791-794... 

Ai N, DeLisle RK, Yu S, Welsh WJ. Computational models for predicting binding affinities of ligands for the wild-type androgen receptor and a mutated variant associated with prostate cancer. Chem Res Toxicol 2003 16 1652-60. 

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