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Science. 1992 Aug 21;257(5073):1115-8.

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

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  • 1Department of Pediatrics, Rainbow Babies and Childrens Hospital, Cleveland, OH.


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.

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