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Mutation of the POU-Specific Domain of Pit-1 and Hypopituitarism Without Pituitary Hypoplasia
R. W. Pfäffle, G. E. DiMattia, J. S. Parks, M. R. Brown, J. M. Wit, M. Jansen, H. Van der Nat, J. L. Van den Brande, M. G. Rosenfeld and H. A. Ingraham
New Series, Vol. 257, No. 5073 (Aug. 21, 1992), pp. 1118-1121
Published by: American Association for the Advancement of Science
Stable URL: http://www.jstor.org/stable/2879845
Page Count: 4
You can always find the topics here!Topics: Alleles, DNA, Complementary DNA, Genes, Hormones, Polymerase chain reaction, Response elements, Siblings, Genetic mutation, Five prime untranslated regions
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A point mutation in the POU-specific portion of the human gene that encodes the tissue-specific POU-domain transcription factor, Pit-1, results in hypopituitarism, with deficiencies of growth hormone, prolactin, and thyroid-stimulating hormone. In two unrelated Dutch families, a mutation in Pit-1 that altered an alanine in the first putative α helix of the POU-specific domain to proline was observed. This mutation generated a protein capable of binding to DNA response elements but unable to effectively activate its known target genes, growth hormone and prolactin. The phenotype of the affected individuals suggests that the mutant Pit-1 protein is competent to initiate other programs of gene activation required for normal proliferation of somatotrope, lactotrope, and thyrotrope cell types. Thus, a mutation in the POU-specific domain of Pit-1 has a selective effect on a subset of Pit-1 target genes.
Science © 1992 American Association for the Advancement of Science