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  • Title: A mutation in the POU-homeodomain of Pit-1 responsible for combined pituitary hormone deficiency.
    Author: Radovick S, Nations M, Du Y, Berg LA, Weintraub BD, Wondisford FE.
    Journal: Science; 1992 Aug 21; 257(5073):1115-8. PubMed ID: 1509262.
    Abstract:
    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.
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