Pit-1 and pituitary function.
Several patients with pituitary dwarfism and a variable degree of hypothyroidism have been shown to have mutations in their Pit-1 gene. Pit-1 activates transcription of the growth hormone and prolactin genes and is necessary for the control of the beta-TSH gene transcription. The various mutations have different effects on the DNA binding and transactivating properties of Pit-1. Multiple pituitary hormone deficiency due to Pit-1 mutations is inherited either dominantly or recessively depending on the DNA binding properties of the mutant protein. The comparison of pheno- and genotype in patients with multiple pituitary hormone deficiency provides some insight into the function of the Pit-1 protein.
Pfäffle
R W
RW
Department of Pediatrics, Emory University School of Medicine, Atlanta, GA 30322.
Parks
J S
JS
Brown
M R
MR
Heimann
G
G
D000818:Animals; D004268:DNA-Binding Proteins / Q000235:genetics / Q000502:physiology*; D006801:Humans; D009154:Mutation; D010902:Pituitary Gland / Q000502:physiology*; D010907:Pituitary Hormones / Q000172:deficiency; D050817:Transcription Factor Pit-1; D014157:Transcription Factors / Q000235:genetics / Q000502:physiology*
D004268:DNA-Binding Proteins; C494187:POU1F1 protein, human; D010907:Pituitary Hormones; D050817:Transcription Factor Pit-1; D014157:Transcription Factors