Lobaccaro J M, Lumbroso S, Poujol N, Belon C, Sultan C
Institut National de la Santé et de la Recherche Médicale INSERM U58, Montpellier, France.
Cell Mol Biol (Noisy-le-grand). 1994 May;40(3):301-8.
The androgen receptor belongs to the family of nuclear receptors and contains three functional domains: a carboxy-terminal hormone binding region, a central cystein rich DNA binding region and an amino-terminal region involved in the expression of androgen regulated genes. Cloning of the complementary DNA encoding the androgen receptor enabled the characterization of the molecular defects associated with androgen insensitivity syndromes, X-linked disorders resulting from androgen action defects in target cells. Moreover, androgen receptor gene alterations have been recently described in two unrelated diseases: male breast cancer and spinal and bulbar muscular atrophy. Our group have identified 16 androgen receptor gene alterations in patients with androgen insensitivity syndrome, an amino acid substitution in a patient with a partial androgen insensitivity syndrome and a breast cancer. In 2 families, the molecular diagnosis of spinal and bulbar muscular atrophy has been performed.
雄激素受体属于核受体家族，包含三个功能结构域：羧基末端激素结合区、富含半胱氨酸的中央DNA结合区以及参与雄激素调节基因表达的氨基末端区。编码雄激素受体的互补DNA的克隆，使得与雄激素不敏感综合征相关的分子缺陷得以表征，雄激素不敏感综合征是一种由靶细胞中雄激素作用缺陷导致的X连锁疾病。此外，最近在两种不相关的疾病中描述了雄激素受体基因改变：男性乳腺癌和脊髓延髓性肌萎缩症。我们的研究小组在雄激素不敏感综合征患者、一名部分雄激素不敏感综合征患者和一名乳腺癌患者中鉴定出16种雄激素受体基因改变。在两个家族中，已经对脊髓延髓性肌萎缩症进行了分子诊断。
