摘要
GNAS1通过不同的启动子和共同的2-13号外显子转录产生Gsα,NESP55,XLαs等多种基因产物,主要产物是异源三聚体的Gsα,介导激素等多种细胞外因子的细胞内信号转导。GNAS1的种系失活性突变会导致Albright遗传性骨营养不良症（AHO）。活化的体细胞突变会导致以环磷酸腺苷（cAMP）为有丝分裂信号的细胞增殖,经典的表现为McCune-Albright综合征（MAS）。A366S突变发生在男性患者可表现为假性甲状旁腺功能减退症Ⅰa型（PHPⅠa）和睾丸中毒症并存。组织特异性的激素抵抗可能是由于组织特异性的GNAS1印记缺陷所致。
Stimuatory G protein alpha-subunit gene （GNAS1） generates multiple gene products including Gsα,NESP55 and XLαs through the use of multiple promoters and first exons that splice onto common exons 2～13. The major gene product is Gsα, which mediates the intracellular signal transduction of multiple extracellular factors such as hormone. Inactivating germ line mutations of this gene cause Albright′s hereditary osteodystrophy （AHO）. Activating somatic mutations lead to the proliferation of cells in which cyclic adenosine monophoshtate （cAMP） is a mitogenic signal, and the classic manifestation is McCune-Albright syndrome（MAS）. Mutation A366S will cause both pseudohypoparathyroidism type Ⅰa（PHP Ⅰa） and testitoxicosis in male. The tissue-specific hormone resistance may result from tissue-specific imprinting defect of the GNAS1 gene.
出处
《国际内分泌代谢杂志》
2007年第5期325-328,共4页
International Journal of Endocrinology and Metabolism
