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Dwarf locus mutants lacking three pituitary cell types result from mutations in the POU-domain gene pit-1

S Li1, E B Crenshaw, E J Rawson

  • 1Department of Chemistry, University of California, San Diego, La Jolla 92093.

Nature
|October 11, 1990
PubMed

Insights

Mutations in the mouse dwarf locus disrupt anterior pituitary development. The POU-domain transcription factor Pit-1 is essential for the development of growth hormone, prolactin, and thyroid-stimulating hormone-producing cells.

Area of Science:

  • Developmental biology
  • Genetics
  • Endocrinology

Background:

  • The mouse dwarf locus (dw) is associated with anterior pituitary developmental defects.
  • These defects include the loss of growth hormone, prolactin, and thyroid-stimulating hormone expression.
  • The cellular basis for these defects involves hypoplasia of hormone-producing cell types.

Purpose of the Study:

  • To investigate the genetic basis of the mouse dwarf locus mutations.
  • To determine the role of the Pit-1 gene in anterior pituitary development.
  • To link transcription factor function to mammalian organogenesis.

Main Methods:

  • Genetic analysis of mouse dwarf alleles.
  • Gene expression studies for pituitary hormones.
  • Phenotypic analysis of anterior pituitary cell types.

Main Results:

  • Mutations at the dwarf locus disrupt anterior pituitary development.
  • Both characterized dwarf alleles involve disruptions in the Pit-1 gene.
  • Pit-1 is essential for the specification and development of growth hormone, prolactin, and thyroid-stimulating hormone-producing cells.

Conclusions:

  • Pit-1 is a critical transcription factor for anterior pituitary cell differentiation.
  • The Pit-1 gene is directly implicated in the dwarf locus.
  • This study links a specific transcription factor to key events in mammalian organogenesis.

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