| First Author | Radovick S | Year | 1992 |
| Journal | Science | Volume | 257 |
| Issue | 5073 | Pages | 1115-8 |
| PubMed ID | 1509262 | Mgi Jnum | J:11733 |
| Mgi Id | MGI:60068 | Doi | 10.1126/science.257.5073.1115 |
| Citation | Radovick S, et al. (1992) A mutation in the POU-homeodomain of Pit-1 responsible for combined pituitary hormone deficiency. Science 257(5073):1115-8 |
| abstractText | 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. |
