PROP1与联合垂体激素缺乏症

Research on the relation between PROP1 and CPHD

垂体特异性转录因子祖先蛋白(PROP l),是成对同源转录因子,在垂体腺中呈特异性表达,参与早期胚胎垂体的发育,因此,PROP1基因对于垂体前叶的发育是必需的。PROP1启动胚胎期垂体特异性转录因子(PIT-1)的起始表达并维持个体出生后的持续表达,且可直接促使PIT-1细胞系的前体分化为促性腺细胞系。其基因突变可使人、鼠患有联合垂体激素缺乏症(CPHD),表现为生长激素(GH)、促乳素(PRL)、促甲状腺素(TSH)以及促黄体激素(LH)、促卵泡激素(FSH)或促肾上腺皮质激素(ACTH)缺乏,垂体核磁共振成像显示垂体萎缩。在其它哺乳动物中PROP1突变也会引起垂体和性腺激素异常。就PROP1基因的结构与功能,以及与CPHD间的关系作一综述。

Prophet of PIT - 1 （ PROP1 ） is a paired class homeodomain transcription factor that is specifically expressed in the pituitary gland and involved in the early embryonic pituitary development. As a result, PROP1 gene is essential for development of the anterior pituitary gland. PROP1 activates original expression of the early embryonic PIT - 1 and maintains persisted expression of p,stnatal individual. PROP1 directly promotes PIT - 1 primordia to differentiate gonadotropic cell lines. Mutations in the PROP1 gene causing compound pituitary diseases in mouse models and human patients lead to clinical phenotype characterized by GH, PRL, TSH, LH and FSH deficiency, and sometimes ACTH deficiency is well. Magnetic. resonance imaging revealed a hypoplastic pituitary. The structure and function about PROP1, an tl relation en it and CPHD were reviewed.