The Pit-1 transcription factor gene is a candidate for the murine Snell dwarf mutation.
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.
Camper
S A
SA
Department of Human Genetics, University of Michigan Medical School, Ann Arbor 48109-0618.
Saunders
T L
TL
Katz
R W
RW
Reeves
R H
RH
D000818:Animals; D002454:Cell Differentiation; D003433:Crosses, Genetic; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics*; D004393:Dwarfism, Pituitary / Q000235:genetics* / Q000473:pathology; D005786:Gene Expression Regulation; D005801:Genes, Homeobox; D013006:Growth Hormone / Q000172:deficiency; D051379:Mice; D008809:Mice, Inbred C3H / Q000235:genetics; D008815:Mice, Inbred Strains / Q000235:genetics; D008817:Mice, Mutant Strains / Q000235:genetics*; D010903:Pituitary Gland, Anterior / Q000378:metabolism / Q000473:pathology; D011388:Prolactin / Q000172:deficiency; D011995:Recombination, Genetic; D013972:Thyrotropin / Q000172:deficiency; D050817:Transcription Factor Pit-1; D014157:Transcription Factors / Q000172:deficiency / Q000235:genetics*
D004268:DNA-Binding Proteins; D013006:Growth Hormone; D011388:Prolactin; D013972:Thyrotropin; D050817:Transcription Factor Pit-1; D014157:Transcription Factors; C494185:Pou1f1 protein, mouse