Ia型假性甲状旁腺功能减退症中刺激性GTP结合蛋白α亚基多种形式的表达降低。

Carter A, Bardin C, Collins R, Simons C, Bray P, Spiegel A

Molecular Pathophysiology Section, National Institute of Diabetes and Digestive and Kidney Diseases, Bethesda, MD 20892.

Proc Natl Acad Sci U S A. 1987 Oct;84(20):7266-9. doi: 10.1073/pnas.84.20.7266.

We examined the expression of the alpha subunit of the stimulatory GTP-binding protein (Gs) in fibroblasts of subjects with pseudohypoparathyroidism (PHP) type Ia by transfer blot hybridization and S1 nuclease analyses. Six subjects with PHP type Ia showed decreased steady-state content of Gs alpha mRNA. S1 nuclease analysis indicates that both long and short forms of Gs alpha mRNA are decreased, with no apparent change in the ratio of long to short forms in PHP compared with normal individuals. It appears likely that in some cases of PHP type Ia the genetic lesion affects the maintenance of mRNA levels for all forms of the Gs alpha subunit.

我们通过转印杂交和S1核酸酶分析，检测了Ia型假性甲状旁腺功能减退症（PHP）患者成纤维细胞中刺激性GTP结合蛋白（Gs）α亚基的表达。6例Ia型PHP患者显示Gsα mRNA的稳态含量降低。S1核酸酶分析表明，与正常个体相比，PHP中Gsα mRNA的长链和短链形式均减少，长链与短链形式的比例无明显变化。在某些Ia型PHP病例中，遗传损伤似乎影响了所有形式Gsα亚基mRNA水平的维持。