The DOI matches its Crossref record.
Mutation of the POU-Specific Domain of Pit-1 and Hypopituitarism Without Pituitary Hypoplasia
Abstract
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.
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Citations
Cited by
Luo, X., Ikeda, Y., & Parker, K. L. (1994) · Cell · doi:10.1016/0092-8674(94)90211-9 · Cited by 1,631
Herr, W., & Cleary, M. A. (1995) · Genes & Development · doi:10.1101/gad.9.14.1679 · Cited by 388
Achermann, J. C., Ozisik, G., Ito, M., Orun, U. A., Harmanci, K., Gurakan, B., & Jameson, J. L. (2002) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.87.4.8376 · Cited by 305
Anterior pituitary hypoplasia and dwarfism in mice lacking the dopamine transporter
Bossé, R., Fumagalli, F., Jaber, M., Giros, B., Gainetdinov, R. R., Wetsel, W. C., Missale, C., & Caron, M. G. (1997) · Neuron · doi:10.1016/s0896-6273(00)80353-0 · Cited by 203
Pituitary transcription factors in the aetiology of combined pituitary hormone deficiency
Pfäffle, R., & Klammt, J. (2011) · Best Practice & Research Clinical Endocrinology & Metabolism · doi:10.1016/j.beem.2010.10.014 · Cited by 115
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Metadata
- Authors
- Pfäffle, R. W., DiMattia, G. E., Parks, J. S., Brown, M. R., Wit, J. M., Jansen, M., Van der Nat, H., Van den Brande, J. L., Rosenfeld, M. G., & Ingraham, H. A.
- Venue
- Science
- Published
- 1992-08-21
- Volume
- 257
- Issue
- 5073
- Pages
- 1118-1121
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W1982810916
- Cited by
- 454
- References
- 0
- FWCI
- 21.50
- Type
- journal article
- Language
- en
- Open access
- closed
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- CoChat. (2026). Citation check: Mutation of the POU-Specific Domain of Pit-1 and Hypopituitarism Without Pituitary Hypoplasia. https://app.cochat.ai/papers/10.1126/science.257.5073.1118
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- Pfäffle, R. W., DiMattia, G. E., Parks, J. S., Brown, M. R., Wit, J. M., Jansen, M., Van der Nat, H., Van den Brande, J. L., Rosenfeld, M. G., & Ingraham, H. A. (1992). Mutation of the POU-Specific Domain of Pit-1 and Hypopituitarism Without Pituitary Hypoplasia. Science. https://doi.org/10.1126/science.257.5073.1118
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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