A mutation in the POU-homeodomain of Pit-1 responsible for combined pituitary hormone deficiency

Sally Radovick, Michelle Nations, Yuefen Du, La Vonne A. Berg, Bruce D. Weintraub, Fredric Wondisford

Research output: Contribution to journalArticlepeer-review

363 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)1115-1118
Number of pages4
JournalScience
Volume257
Issue number5073
DOIs
StatePublished - Jan 1 1992
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • General

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