Medical Knowledge Cockpit spinal and bulbar muscular atrophy of kennedy

 

AR

• SMAD3 represses androgen receptor-mediated transcription
• Differential modulation of androgen receptor-mediated transactivation by Smad3 and tumor suppressor Smad4
• Characterization of the interaction between androgen receptor and a new transcriptional inhibitor, SHP
• Changes in androgen receptor nongenotropic signaling correlate with transition of LNCaP cells to androgen independence
• Mechanisms of androgen receptor signalling via steroid receptor coactivator-1 in prostate

• SRY interacts with and negatively regulates androgen receptor transcriptional activity
• Cross-talk between signal transducer and activator of transcription 3 and androgen receptor signaling in prostate carcinoma cells
• Activation of the androgen receptor N-terminal domain by interleukin-6 via MAPK and STAT3 signal transduction pathways
• Supervillin associates with androgen receptor and modulates its transcriptional activity
• TR2 orphan receptor functions as negative modulator for androgen receptor in prostate cancer cells PC-3
• Convergence of two repressors through heterodimer formation of androgen receptor and testicular orphan receptor-4: A unique signaling pathway in the steroid receptor superfamily
• The FXXLF motif mediates androgen receptor-specific interactions with coregulators
• Suppression of androgen receptor transactivation by Pyk2 via interaction and phosphorylation of the ARA55 coregulator
• Isolation and characterization of ARA160 as the first androgen receptor N-terminal-associated coactivator in human prostate cells
• TRIM68 regulates ligand-dependent transcription of androgen receptor in prostate cancer cells
• Recruitment of beta-catenin by wild-type or mutant androgen receptors correlates with ligand-stimulated growth of prostate cancer cells
• Ubc9 interacts with the androgen receptor and activates receptor-dependent transcription
• FHL2, a novel tissue-specific coactivator of the androgen receptor

 

AR

Somatic tumors

prostate

Tumor types germline

Cancer Syndrom

Translocation partner

Name

Androgen Receptor

Chromosome banding

Xq12

Cancer molecular gen.

Dom

Mutation type

Mis

Other syndrome disease

Androgen insensitivity, Hypospadias 1, X-linked, Spinal and bulbar muscular atrophy of Kennedy

 

AR

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 asteroid-hormone activated transcription factor. Upon binding the hormone ligand, the receptor dissociates fromaccessory proteins, translocates into the nucleus, dimerizes, and then stimulates transcription of androgenresponsive genes. This gene contains 2 polymorphic trinucleotide repeat segments that encode polyglutamine andpolyglycine tracts in the N-terminal transactivation domain of its protein. Expansion of the polyglutamine tractcauses spinal bulbar muscular atrophy (Kennedy disease). Mutations in this gene are also associated with completeandrogen insensitivity (CAIS). Two alternatively spliced variants encoding distinct isoforms have been described.(provided by RefSeq, Jul 2008)

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 asteroid-hormone activated transcription factor. Upon binding the hormone ligand, the receptor dissociates fromaccessory proteins, translocates into the nucleus, dimerizes, and then stimulates transcription of androgenresponsive genes. This gene contains 2 polymorphic trinucleotide repeat segments that encode polyglutamine andpolyglycine tracts in the N-terminal transactivation domain of its protein. Expansion of the polyglutamine tractcauses spinal bulbar muscular atrophy (Kennedy disease). Mutations in this gene are also associated with completeandrogen insensitivity (CAIS). Two alternatively spliced variants encoding distinct isoforms have been described.(provided by RefSeq, Jul 2008)