User:JonSDSUGrad/Sandbox/TEST11 Androgen receptor

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Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease), also known as AR, is a human gene.

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
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 367 11835
Ensembl ENSG00000169083 ENSMUSG00000046532
Uniprot P10275 P19091
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]

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).

[edit] Further reading

  • Pinsky L, Trifiro M, Kaufman M, et al. (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, et al. (1992). "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. 41 (3-8): 665-9. PMID 1562539. 
  • Brinkmann AO, Jenster G, Ris-Stalpers C, et al. (1995). "Androgen receptor mutations.". J. Steroid Biochem. Mol. Biol. 53 (1-6): 443-8. PMID 7626493. 
  • Quigley CA, De Bellis A, Marschke KB, et al. (1995). "Androgen receptor defects: historical, clinical, and molecular perspectives.". Endocr. Rev. 16 (3): 271-321. PMID 7671849. 
  • Sultan C, Lumbroso S, Poujol N, et al. (1994). "Mutations of androgen receptor gene in androgen insensitivity syndromes.". J. Steroid Biochem. Mol. Biol. 46 (5): 519-30. PMID 8240973. 
  • Yong EL, Tut TG, Ghadessy FJ, et al. (1999). "Partial androgen insensitivity and correlations with the predicted three dimensional structure of the androgen receptor ligand-binding domain.". Mol. Cell. Endocrinol. 137 (1): 41-50. PMID 9607727. 
  • Jänne OA, Moilanen AM, Poukka H, et al. (2001). "Androgen-receptor-interacting nuclear proteins.". Biochem. Soc. Trans. 28 (4): 401-5. PMID 10961928. 
  • Yeh S, Sampson ER, Lee DK, et al. (2001). "Functional analysis of androgen receptor N-terminal and ligand binding domain interacting coregulators in prostate cancer.". J. Formos. Med. Assoc. 99 (12): 885-94. PMID 11155740. 
  • Loy CJ, Yong EL (2001). "Sex, infertility and the molecular biology of the androgen receptor.". Curr. Opin. Obstet. Gynecol. 13 (3): 315-21. PMID 11396657. 
  • Roy AK, Tyagi RK, Song CS, et al. (2002). "Androgen receptor: structural domains and functional dynamics after ligand-receptor interaction.". Ann. N. Y. Acad. Sci. 949: 44-57. PMID 11795379. 
  • He B, Wilson EM (2002). "The NH(2)-terminal and carboxyl-terminal interaction in the human androgen receptor.". Mol. Genet. Metab. 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, et al. (2003). "The androgen receptor CAG repeat: a modifier of carcinogenesis?". Mol. Cell. Endocrinol. 193 (1-2): 109-20. PMID 12161010. 
  • Sultan Ch, Gobinet J, Terouanne B, et al. (2003). "[The androgen receptor: molecular pathology]". J. Soc. Biol. 196 (3): 223-40. PMID 12465595. 
  • Walcott JL, Merry DE (2003). "Trinucleotide repeat disease. The androgen receptor in spinal and bulbar muscular atrophy.". Vitam. Horm. 65: 127-47. PMID 12481545. 
  • Bonaccorsi L, Muratori M, Carloni V, et al. (2003). "Androgen receptor and prostate cancer invasion.". Int. J. Androl. 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.". Mol. Genet. Metab. 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, et al. (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.". J. Endocrinol. Invest. 27 (1): 57-60. PMID 15053245. 
  • Black BE, Paschal BM (2005). "Intranuclear organization and function of the androgen receptor.". Trends Endocrinol. Metab. 15 (9): 411-7. doi:10.1016/j.tem.2004.09.006. PMID 15519887. 
  • Tufan AC, Satiroglu-Tufan NL, Aydinuraz B, et al. (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.". Tohoku J. Exp. Med. 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]". Ann. Endocrinol. (Paris) 66 (3): 217-24. PMID 15988382. 
  • Rajender S, Singh L, Thangaraj K (2007). "Phenotypic heterogeneity of mutations in androgen receptor gene.". Asian J. Androl. 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 6 (11): 1307-13. PMID 17568191.