Abstract
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.
Publication types
-
Case Reports
-
Research Support, Non-U.S. Gov't
-
Research Support, U.S. Gov't, P.H.S.
MeSH terms
-
Alleles
-
Amino Acid Sequence
-
Base Sequence
-
Binding Sites
-
DNA / chemistry
-
DNA / genetics
-
DNA / metabolism
-
DNA-Binding Proteins / chemistry
-
DNA-Binding Proteins / genetics*
-
Growth Hormone / deficiency
-
Growth Hormone / genetics
-
Humans
-
Molecular Sequence Data
-
Mutation*
-
Pituitary Gland, Anterior / metabolism
-
Pituitary Gland, Anterior / pathology
-
Pituitary Hormones / deficiency*
-
Polymerase Chain Reaction
-
Prolactin / deficiency
-
Prolactin / genetics
-
Promoter Regions, Genetic
-
Thyrotropin / deficiency
-
Thyrotropin / genetics
-
Transcription Factor Pit-1
-
Transcription Factors / chemistry
-
Transcription Factors / genetics*
-
Transfection
Substances
-
DNA-Binding Proteins
-
POU1F1 protein, human
-
Pituitary Hormones
-
Transcription Factor Pit-1
-
Transcription Factors
-
Prolactin
-
Thyrotropin
-
Growth Hormone
-
DNA