Mutations in the Pit-1 gene in children with combined pituitary hormone deficiency

K Ohta; Y Nobukuni; H Mitsubuchi; S Fujimoto; N Matsuo; H Inagaki; F Endo; I Matsuda

doi:10.1016/0006-291x(92)92281-2

Mutations in the Pit-1 gene in children with combined pituitary hormone deficiency

Biochem Biophys Res Commun. 1992 Dec 15;189(2):851-5. doi: 10.1016/0006-291x(92)92281-2.

Authors

K Ohta¹, Y Nobukuni, H Mitsubuchi, S Fujimoto, N Matsuo, H Inagaki, F Endo, I Matsuda

Affiliation

¹ Department of Pediatrics, Kumamoto University School of Medicine, Japan.

PMID: 1472057
DOI: 10.1016/0006-291x(92)92281-2

Abstract

Pit-1 is a pituitary-specific transcription factor that binds to and transactivates promoters of growth hormone and prolactin genes. In three unrelated Japanese children with combined pituitary hormone deficiency, we identified three point mutations in the Pit-1 gene, Pro24Leu, Arg143Gln, and Arg271Trp, located on the major transactivation region, POU-specific domain, and POU-homeodomain, respectively.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Amino Acid Sequence
Base Sequence
Child
Child, Preschool
DNA / blood
DNA / genetics
DNA / isolation & purification
DNA-Binding Proteins / genetics*
Female
Genetic Carrier Screening
Humans
Leukocytes / physiology
Male
Molecular Sequence Data
Mutation*
Oligodeoxyribonucleotides
Polymerase Chain Reaction
Transcription Factor Pit-1
Transcription Factors / genetics*

Substances

DNA-Binding Proteins
Oligodeoxyribonucleotides
POU1F1 protein, human
Transcription Factor Pit-1
Transcription Factors
DNA