Article
Mutation of the POU-specific domain of Pit-1 and hypopituitarism without pituitary hypoplasia.
Science (New York, N.Y.) - 21 Aug 1992
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
Abstract excerpt
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 alpha helix of the POU-specific domain to proline was observed. This...
Topics
- Animals
- Base Sequence
- Blotting, Northern
- DNA
- DNA-Binding Proteins
- Growth Hormone
- Humans
- Hypopituitarism
- Mice
- Molecular Sequence Data
- Mutation