A Mutation in the POU-Homeodomain of Pit-1 Responsible for Combined Pituitary Hormone Deficiency

  • Sally Radovick
    Division of Endocrinology, Department of Pediatrics, Rainbow Babies and Childrens Hospital and Case Western Reserve University Medical School, Cleveland, OH 44106
  • Michelle Nations
    Division of Endocrinology and Hypertension, Department of Medicine, University Hospitals of Cleveland and Case Western Reserve University Medical School, Cleveland, OH 44106
  • Yuefen Du
    Division of Endocrinology, Department of Pediatrics, Rainbow Babies and Childrens Hospital and Case Western Reserve University Medical School, Cleveland, OH 44106
  • LaVonne A. Berg
    Division of Endocrinology and Hypertension, Department of Medicine, University Hospitals of Cleveland and Case Western Reserve University Medical School, Cleveland, OH 44106
  • Bruce D. Weintraub
    Molecular and Cellular Endocrinology Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892
  • Fredric E. Wondisford
    Division of Endocrinology and Hypertension, Department of Medicine, University Hospitals of Cleveland and Case Western Reserve University Medical School, Cleveland, OH 44106

抄録

<jats:p>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.</jats:p>

収録刊行物

  • Science

    Science 257 (5073), 1115-1118, 1992-08-21

    American Association for the Advancement of Science (AAAS)

被引用文献 (22)*注記

もっと見る

キーワード

詳細情報

問題の指摘

ページトップへ