Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA.
Horm Metab Res. 2012 Sep;44(10):732-40. doi: 10.1055/s-0032-1316331. Epub 2012 Jun 22.
Gαs is a ubiquitous signaling protein necessary for the actions of many neurotransmitters, hormones, and autocrine/paracrine factors. Loss-of-function mutations within the gene encoding Gαs, GNAS, are responsible for multiple human diseases, including Albright's Hereditary Osteodystrophy, progressive osseous heteroplasia, and pseudohypoparathyroidism. Gain-of-function mutations in the same gene are found in various endocrine and nonendocrine tumors and in patients with McCune-Albright Syndrome and fibrous dysplasia of bone. In addition to Gαs, GNAS gives rise to multiple additional coding and noncoding transcripts. Among those, XLαs is a paternally expressed product that is partially identical to Gαs. This article reviews the cellular actions of Gαs and XLαs, focusing on the significance of XLαs relative to Gαs in mammalian physiology and human disease.
Gαs 是一种普遍存在的信号蛋白，对于许多神经递质、激素和自分泌/旁分泌因子的作用是必需的。编码 Gαs（GNAS）的基因内的功能丧失突变负责多种人类疾病，包括 Albright 遗传性骨营养不良、进行性骨异质性和假性甲状旁腺功能减退症。同一基因中的功能获得性突变存在于各种内分泌和非内分泌肿瘤以及 McCune-Albright 综合征和骨纤维发育不良患者中。除了 Gαs，GNAS 还产生多种其他编码和非编码转录本。其中，XLαs 是一种父系表达的产物，与 Gαs 部分相同。本文综述了 Gαs 和 XLαs 的细胞作用，重点介绍了 XLαs 相对于哺乳动物生理学和人类疾病中 Gαs 的意义。
