Mutations in the Pit-1 gene in children with combined pituitary hormone deficiency.
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.
Ohta
K
K
Department of Pediatrics, Kumamoto University School of Medicine, Japan.
Nobukuni
Y
Y
Mitsubuchi
H
H
Fujimoto
S
S
Matsuo
N
N
Inagaki
H
H
Endo
F
F
Matsuda
I
I
D000595:Amino Acid Sequence; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D004247:DNA / Q000097:blood / Q000235:genetics / Q000302:isolation & purification; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D007962:Leukocytes / Q000502:physiology; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D009838:Oligodeoxyribonucleotides; D016133:Polymerase Chain Reaction; D050817:Transcription Factor Pit-1; D014157:Transcription Factors / Q000235:genetics*
D004268:DNA-Binding Proteins; D009838:Oligodeoxyribonucleotides; C494187:POU1F1 protein, human; D050817:Transcription Factor Pit-1; D014157:Transcription Factors; D004247:DNA