Article
A mutation in the POU-homeodomain of Pit-1 responsible for combined pituitary hormone deficiency.
Science (New York, N.Y.) - 21 Aug 1992
Radovick S, Nations M, Du Y, Berg L A, Weintraub B D, Wondisford F E
Abstract excerpt
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...
Topics
- Alleles
- Amino Acid Sequence
- Base Sequence
- Binding Sites
- DNA
- DNA-Binding Proteins
- Growth Hormone
- Humans
- Molecular Sequence Data
- Mutation
- Pituitary Gland, Anterior