The Pit-1 transcription factor gene is a candidate for the murine Snell dwarf mutation

Genomics. 1990 Nov;8(3):586-90. doi: 10.1016/0888-7543(90)90050-5.


Two nonallelic mouse mutations with severe dwarf phenotypes are characterized by a lack of growth hormone, prolactin, and thyroid stimulating hormone. The cells that normally synthesize these pituitary hormones express a common transcription factor called GHF-1 or Pit-1. Using an intersubspecific backcross, we have demonstrated tight linkage of the Pit-1 and Snell dwarf (dw) genes on mouse chromosome 16. No recombination was observed between Pit-1 and dw in 110 individuals examined. Southern blot analysis of genomic DNA reveals that the Pit-1 gene is rearranged in C3H/HeJ-dwJ/dw mice but not in coisogenic +/+ animals, providing molecular evidence that a lesion in the Pit-1 gene results in the Snell dwarf phenotype. Demonstration of low levels of Pit-1 expression in Ames dwarf (df) mice implies that both Pit-1 and df expression may be required for pituitary differentiation.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Animals
  • Cell Differentiation
  • Crosses, Genetic
  • DNA Mutational Analysis
  • DNA-Binding Proteins / genetics*
  • Dwarfism, Pituitary / genetics*
  • Dwarfism, Pituitary / pathology
  • Gene Expression Regulation
  • Genes, Homeobox
  • Growth Hormone / deficiency
  • Mice
  • Mice, Inbred C3H / genetics
  • Mice, Inbred Strains / genetics
  • Mice, Mutant Strains / genetics*
  • Pituitary Gland, Anterior / metabolism
  • Pituitary Gland, Anterior / pathology
  • Prolactin / deficiency
  • Recombination, Genetic
  • Thyrotropin / deficiency
  • Transcription Factor Pit-1
  • Transcription Factors / deficiency
  • Transcription Factors / genetics*


  • DNA-Binding Proteins
  • Pit1 protein, mouse
  • Transcription Factor Pit-1
  • Transcription Factors
  • Prolactin
  • Thyrotropin
  • Growth Hormone