A mutation in the POU-homeodomain of Pit-1 responsible for combined pituitary hormone deficiency.
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.
Radovick
S
S
Department of Pediatrics, Rainbow Babies and Childrens Hospital, Cleveland, OH.
Nations
M
M
Du
Y
Y
Berg
L A
LA
Weintraub
B D
BD
Wondisford
F E
FE
D000483:Alleles; D000595:Amino Acid Sequence; D001483:Base Sequence; D001665:Binding Sites; D004247:DNA / Q000737:chemistry / Q000235:genetics / Q000378:metabolism; D004268:DNA-Binding Proteins / Q000737:chemistry / Q000235:genetics*; D013006:Growth Hormone / Q000172:deficiency / Q000235:genetics; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D010903:Pituitary Gland, Anterior / Q000378:metabolism / Q000473:pathology; D010907:Pituitary Hormones / Q000172:deficiency*; D016133:Polymerase Chain Reaction; D011388:Prolactin / Q000172:deficiency / Q000235:genetics; D011401:Promoter Regions, Genetic; D013972:Thyrotropin / Q000172:deficiency / Q000235:genetics; D050817:Transcription Factor Pit-1; D014157:Transcription Factors / Q000737:chemistry / Q000235:genetics*; D014162:Transfection
D004268:DNA-Binding Proteins; C494187:POU1F1 protein, human; D010907:Pituitary Hormones; D050817:Transcription Factor Pit-1; D014157:Transcription Factors; D011388:Prolactin; D013972:Thyrotropin; D013006:Growth Hormone; D004247:DNA