Tatsumi K
Osaka University Medical School, Department of Laboratory Medicine.
Nihon Rinsho. 1994 Apr;52(4):957-61.
Pit-1/GHF-1 is a pituitary-specific POU-domain DNA binding factor, which binds to, and trans-activates the promoters of both growth hormone (GH) and prolactin (PRL) genes. It is well conserved among vertebrates and is indispensable for both differentiation and proliferation of the somatotrophs, lactotrophs and thyrotrophs. PIT1 abnormality is defined as a genetic abnormality in the PIT1 gene, and results in various types of combined deficiencies of thyrotropin (TSH), GH, and PRL. PIT1 abnormality was first recognized as an excellent model for 'transcription factor disease'. Recently, we found a novel case whose cannot be explained by the PIT1 gene mutation alone. Such case will give us precious clue to identify modifier factors of Pit-1/GHF-1.
Pit-1/GHF-1是一种垂体特异性的POU结构域DNA结合因子，它能与生长激素（GH）和催乳素（PRL）基因的启动子结合并反式激活这些启动子。它在脊椎动物中高度保守，对于生长激素细胞、催乳素细胞和促甲状腺激素细胞的分化和增殖都是不可或缺的。PIT1异常被定义为PIT1基因中的遗传异常，会导致促甲状腺激素（TSH）、GH和PRL的各种类型的联合缺乏。PIT1异常最初被认为是“转录因子疾病”的一个极佳模型。最近，我们发现了一个新病例，其不能仅用PIT1基因突变来解释。这样的病例将为我们识别Pit-1/GHF-1的修饰因子提供宝贵线索。
