Radovick S, Nations M, Du Y, Berg L A, Weintraub B D, Wondisford F E
Department of Pediatrics, Rainbow Babies and Childrens Hospital, Cleveland, OH.
Science. 1992 Aug 21;257(5073):1115-8. doi: 10.1126/science.257.5073.1115.
Pit-1 is a pituitary-specific transcription factor responsible for pituitary development and hormone expression in mammals. Mutations in the gene encoding Pit-1 have been found in two dwarf mouse strains displaying hypoplasia of growth hormone, prolactin, and thyroid-stimulating, hormone-secreting cell types in the anterior pituitary. A point mutation in this gene was identified on one allele in a patient with combined pituitary hormone deficiency. Mutant Pit-1 binds DNA normally but acts as a dominant inhibitor of Pit-1 action in the pituitary.
Pit-1是一种垂体特异性转录因子，负责哺乳动物的垂体发育和激素表达。在两种侏儒小鼠品系中发现了编码Pit-1的基因突变，这些小鼠的垂体前叶中生长激素、催乳素和促甲状腺激素分泌细胞类型发育不全。在一名患有联合垂体激素缺乏症的患者的一个等位基因上鉴定出该基因的一个点突变。突变型Pit-1能正常结合DNA，但在垂体中作为Pit-1作用的显性抑制剂发挥作用。
