Pro239Ser: a novel recessive mutation of the Pit-1 gene in seven Middle Eastern children with growth hormone, prolactin, and thyrotropin deficiency.
Pit-1, a member of the POU-homeo domain protein family, is one of the transcription factors responsible for anterior pituitary development and pituitary-specific gene expression. Here, we describe seven children with GH, PRL, and TSH deficiency from three, reportedly unrelated, Middle Eastern families, harboring a newly recognized Pro- > Ser recessive mutation in codon 239 of the Pit-1 gene. The mutated residue is located at the beginning of the second alpha-helix of the POU-homeodomain and is strictly conserved among all POU proteins. The Pro239Ser mutant binds DNA normally but is unable to stimulate transcription.
Pernasetti
F
F
Laboratory of Molecular Biology and Genetic Engineering, University of Liège, Sart Tilman, Belgium.
Milner
R D
RD
al Ashwal
A A
AA
de Zegher
F
F
Chavez
V M
VM
Muller
M
M
Martial
J A
JA
D003062:Codon; D004247:DNA / Q000378:metabolism; D004268:DNA-Binding Proteins / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D005260:Female; D019382:Human Growth Hormone / Q000172:deficiency*; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011388:Prolactin / Q000172:deficiency*; D011392:Proline / Q000235:genetics; D017433:Protein Structure, Secondary; D012529:Saudi Arabia; D012694:Serine / Q000235:genetics; D013972:Thyrotropin / Q000172:deficiency*; D050817:Transcription Factor Pit-1; D014157:Transcription Factors / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D014158:Transcription, Genetic; D015533:Transcriptional Activation
D003062:Codon; D004268:DNA-Binding Proteins; C494187:POU1F1 protein, human; D050817:Transcription Factor Pit-1; D014157:Transcription Factors; D019382:Human Growth Hormone; D012694:Serine; D011388:Prolactin; D013972:Thyrotropin; D004247:DNA; D011392:Proline