User:JonSDSUGrad/Sandbox/TEST7 Androgen receptor

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androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)
PDB rendering based on 1e3g.
Available structures: 1e3g, 1gs4, 1i37, 1i38, 1r4i, 1t5z, 1t63, 1t65, 1t73, 1t74, 1t76, 1t79, 1t7f, 1t7m, 1t7r, 1t7t, 1xj7, 1xnn, 1xow, 1xq3, 1z95, 2am9, 2ama, 2amb, 2ao6, 2ax6, 2ax7, 2ax8, 2ax9, 2axa, 2ihq, 2nw4, 2oz7
Identifiers
Symbol(s) AR; AIS; DHTR; HUMARA; KD; NR3C4; SBMA; SMAX1; TFM
External IDs OMIM: 313700 MGI: 88064 HomoloGene: 28
Orthologs
Human Mouse
Entrez 367 11835
Ensembl ENSG00000169083 ENSMUSG00000046532
Uniprot P10275 n/a
Refseq NM_000044 (mRNA)
NP_000035 (protein)		 NM_013476 (mRNA)
NP_038504 (protein)
Location Chr X: 66.68 - 66.87 Mb Chr X: 94.35 - 94.52 Mb
Pubmed search [1] [2]

[edit] Summary

The androgen receptor gene is more than 90 kb long and codes for a protein that has 3 major functional domains: the N-terminal domain, DNA-binding domain, and androgen-binding domain. The protein functions as a steroid-hormone activated transcription factor. Upon binding the hormone ligand, the receptor dissociates from accessory proteins, translocates into the nucleus, dimerizes, and then stimulates transcription of androgen responsive genes. This gene contains 2 polymorphic trinucleotide repeat segments that encode polyglutamine and polyglycine tracts in the N-terminal transactivation domain of its protein. Expansion of the polyglutamine tract causes spinal bulbar muscular atrophy (Kennedy disease). Mutations in this gene are also associated with complete androgen insensitivity (CAIS). Two alternatively spliced variants encoding distinct isoforms have been described.[1]

[edit] References

  1. ^ Entrez Gene: AR androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease). Retrieved on 2007-08-07.

[edit] Further reading

  • Pinsky L, Trifiro M, Kaufman M, Beitel LK, Mhatre A, Kazemi-Esfarjani P, Sabbaghian N, Lumbroso R, Alvarado C, Vasiliou M (1993). "Androgen resistance due to mutation of the androgen receptor.". Clinical and investigative medicine. Médecine clinique et experimentale 15 (5): 456-72. PMID 1458719. 
  • Veldscholte J, Berrevoets CA, Ris-Stalpers C, Kuiper GG, Jenster G, Trapman J, Brinkmann AO, Mulder E (1992). "The androgen receptor in LNCaP cells contains a mutation in the ligand binding domain which affects steroid binding characteristics and response to antiandrogens.". The Journal of steroid biochemistry and molecular biology 41 (3-8): 665-9. PMID 1562539. 
  • Brinkmann AO, Jenster G, Ris-Stalpers C, van der Korput JA, Brüggenwirth HT, Boehmer AL, Trapman J (1995). "Androgen receptor mutations.". The Journal of steroid biochemistry and molecular biology 53 (1-6): 443-8. PMID 7626493. 
  • Quigley CA, De Bellis A, Marschke KB, el-Awady MK, Wilson EM, French FS (1995). "Androgen receptor defects: historical, clinical, and molecular perspectives.". Endocrine reviews 16 (3): 271-321. PMID 7671849. 
  • Sultan C, Lumbroso S, Poujol N, Belon C, Boudon C, Lobaccaro JM (1994). "Mutations of androgen receptor gene in androgen insensitivity syndromes.". The Journal of steroid biochemistry and molecular biology 46 (5): 519-30. PMID 8240973. 
  • Yong EL, Tut TG, Ghadessy FJ, Prins G, Ratnam SS (1999). "Partial androgen insensitivity and correlations with the predicted three dimensional structure of the androgen receptor ligand-binding domain.". Molecular and cellular endocrinology 137 (1): 41-50. PMID 9607727. 
  • Jänne OA, Moilanen AM, Poukka H, Rouleau N, Karvonen U, Kotaja N, Häkli M, Palvimo JJ (2001). "Androgen-receptor-interacting nuclear proteins.". Biochemical Society transactions 28 (4): 401-5. PMID 10961928. 
  • Yeh S, Sampson ER, Lee DK, Kim E, Hsu CL, Chen YL, Chang HC, Altuwaijri S, Huang KE, Chang C (2001). "Functional analysis of androgen receptor N-terminal and ligand binding domain interacting coregulators in prostate cancer.". Journal of the Formosan Medical Association = Taiwan yi zhi 99 (12): 885-94. PMID 11155740. 
  • Loy CJ, Yong EL (2001). "Sex, infertility and the molecular biology of the androgen receptor.". Current opinion in obstetrics & gynecology 13 (3): 315-21. PMID 11396657. 
  • Roy AK, Tyagi RK, Song CS, Lavrovsky Y, Ahn SC, Oh TS, Chatterjee B (2002). "Androgen receptor: structural domains and functional dynamics after ligand-receptor interaction.". Annals of the New York Academy of Sciences 949: 44-57. PMID 11795379. 
  • He B, Wilson EM (2002). "The NH(2)-terminal and carboxyl-terminal interaction in the human androgen receptor.". Molecular genetics and metabolism 75 (4): 293-8. doi:10.1016/S1096-7192(02)00009-4. PMID 12051960. 
  • Culig Z, Klocker H, Bartsch G, Hobisch A (2002). "Androgen receptor mutations in carcinoma of the prostate: significance for endocrine therapy.". American journal of pharmacogenomics : genomics-related research in drug development and clinical practice 1 (4): 241-9. PMID 12083956. 
  • Ferro P, Catalano MG, Dell'Eva R, Fortunati N, Pfeffer U (2003). "The androgen receptor CAG repeat: a modifier of carcinogenesis?". Molecular and cellular endocrinology 193 (1-2): 109-20. PMID 12161010. 
  • Sultan Ch, Gobinet J, Terouanne B, Paris F, Belon Ch, Jalaguier S, Georget V, Poujol N, Auzou G, Lumbroso S (2003). "[The androgen receptor: molecular pathology]". Journal de la Société de biologie 196 (3): 223-40. PMID 12465595. 
  • Walcott JL, Merry DE (2003). "Trinucleotide repeat disease. The androgen receptor in spinal and bulbar muscular atrophy.". Vitamins and hormones 65: 127-47. PMID 12481545. 
  • Bonaccorsi L, Muratori M, Carloni V, Zecchi S, Formigli L, Forti G, Baldi E (2003). "Androgen receptor and prostate cancer invasion.". International journal of andrology 26 (1): 21-5. PMID 12534934. 
  • Verrijdt G, Haelens A, Claessens F (2004). "Selective DNA recognition by the androgen receptor as a mechanism for hormone-specific regulation of gene expression.". Molecular genetics and metabolism 78 (3): 175-85. PMID 12649062. 
  • Santos AF, Huang H, Tindall DJ (2004). "The androgen receptor: a potential target for therapy of prostate cancer.". Steroids 69 (2): 79-85. doi:10.1016/j.steroids.2003.10.005. PMID 15013685. 
  • Mazen I, Lumbroso S, Abdel Ghaffar S, Salah N, Sultan C (2004). "Mutation of the androgen receptor (R840S) in an Egyptian patient with partial androgen insensitivity syndrome: review of the literature on the clinical expression of different R840 substitutions.". Journal of endocrinological investigation 27 (1): 57-60. PMID 15053245. 
  • Black BE, Paschal BM (2005). "Intranuclear organization and function of the androgen receptor.". Trends in endocrinology and metabolism: TEM 15 (9): 411-7. doi:10.1016/j.tem.2004.09.006. PMID 15519887. 
  • Tufan AC, Satiroglu-Tufan NL, Aydinuraz B, Satiroglu MH, Aydos K, Bagci H (2005). "No association of the CAG repeat length in exon 1 of the androgen receptor gene with idiopathic infertility in Turkish men: implications and literature review.". The Tohoku journal of experimental medicine 206 (2): 105-15. PMID 15888966. 
  • Morel Y, Michel-Calemard L, Mallet D (2005). "[Genetic anomalies of the androgen receptor and sexual ambiguity with normal testicular function at birth]". Annales d'endocrinologie 66 (3): 217-24. PMID 15988382. 
  • Rajender S, Singh L, Thangaraj K (2007). "Phenotypic heterogeneity of mutations in androgen receptor gene.". Asian journal of andrology 9 (2): 147-79. doi:10.1111/j.1745-7262.2007.00250.x. PMID 17334586. 
  • Comstock CE, Knudsen KE (2007). "The complex role of AR signaling after cytotoxic insult: implications for cell-cycle-based chemotherapeutics.". Cell cycle (Georgetown, Tex.) 6 (11): 1307-13. PMID 17568191.