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

Science. 1992 Aug 21;257(5073):1115-8. doi: 10.1126/science.257.5073.1115.

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Alleles
  • Amino Acid Sequence
  • Base Sequence
  • Binding Sites
  • DNA / chemistry
  • DNA / genetics
  • DNA / metabolism
  • DNA-Binding Proteins / chemistry
  • DNA-Binding Proteins / genetics*
  • Growth Hormone / deficiency
  • Growth Hormone / genetics
  • Humans
  • Molecular Sequence Data
  • Mutation*
  • Pituitary Gland, Anterior / metabolism
  • Pituitary Gland, Anterior / pathology
  • Pituitary Hormones / deficiency*
  • Polymerase Chain Reaction
  • Prolactin / deficiency
  • Prolactin / genetics
  • Promoter Regions, Genetic
  • Thyrotropin / deficiency
  • Thyrotropin / genetics
  • Transcription Factor Pit-1
  • Transcription Factors / chemistry
  • Transcription Factors / genetics*
  • Transfection

Substances

  • DNA-Binding Proteins
  • POU1F1 protein, human
  • Pituitary Hormones
  • Transcription Factor Pit-1
  • Transcription Factors
  • Prolactin
  • Thyrotropin
  • Growth Hormone
  • DNA