A Mutation in the POU-Homeodomain of Pit-1 Responsible for Combined Pituitary Hormone Deficiency
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- Sally Radovick
- Division of Endocrinology, Department of Pediatrics, Rainbow Babies and Childrens Hospital and Case Western Reserve University Medical School, Cleveland, OH 44106
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- Michelle Nations
- Division of Endocrinology and Hypertension, Department of Medicine, University Hospitals of Cleveland and Case Western Reserve University Medical School, Cleveland, OH 44106
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- Yuefen Du
- Division of Endocrinology, Department of Pediatrics, Rainbow Babies and Childrens Hospital and Case Western Reserve University Medical School, Cleveland, OH 44106
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- 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
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- Bruce D. Weintraub
- Molecular and Cellular Endocrinology Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892
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- 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
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- Science
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Science 257 (5073), 1115-1118, 1992-08-21
American Association for the Advancement of Science (AAAS)
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詳細情報
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- CRID
- 1363951794069213696
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- NII論文ID
- 80006672674
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- ISSN
- 10959203
- 00368075
- http://id.crossref.org/issn/00368075
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