Wieacker P F, Knoke I, Jakubiczka S
Institut für Humangenetik, Otto-von-Guericke-Universität Magdeburg.
Exp Clin Endocrinol Diabetes. 1998;106(6):446-53. doi: 10.1055/s-0029-1212014.
The androgen receptor (AR) is a ligand-dependent transcription factor involved in various biological processes such as sex differentiation, sexual maturation and spermatogenesis. Disorders of AR function cause a wide spectrum of androgen insensitivity syndromes. The phenotypes vary from women with female external genitalia through patients with genital ambiguity to men with normal male genitalia but infertile. The CAG repeat in exon A is important for transactivation function of the AR and consequently for many androgen-dependent processes. Expansion of this repeat is the cause of the X-linked spinal and bulbar muscular atrophy (SBMA, Kennedy's disease). Mutations of the AR gene occur commonly in prostate cancers and are significant for prognosis of the disease.
雄激素受体（AR）是一种依赖配体的转录因子，参与多种生物学过程，如性别分化、性成熟和精子发生。AR功能障碍会导致一系列雄激素不敏感综合征。其表型范围广泛，从具有女性外生殖器的女性，到生殖器模糊的患者，再到具有正常男性生殖器但不育的男性。外显子A中的CAG重复序列对AR的反式激活功能很重要，因此对许多雄激素依赖的过程也很重要。该重复序列的扩增是X连锁脊髓和延髓肌肉萎缩症（SBMA，肯尼迪病）的病因。AR基因的突变在前列腺癌中很常见，对该疾病的预后具有重要意义。
