title: Pro239Ser: a novel recessive mutation of the Pit-1 gene in seven Middle Eastern children with growth hormone, prolactin, and thyrotropin deficiency.
abstract: 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.
authors.affiliation: Laboratory of Molecular Biology and Genetic Engineering, University of Liège, Sart Tilman, Belgium.
authors.forename: F
authors.initials: F
authors.lastname: Pernasetti
authors.forename: R D
authors.initials: RD
authors.lastname: Milner
authors.forename: A A
authors.initials: AA
authors.lastname: al Ashwal
authors.forename: F
authors.initials: F
authors.lastname: de Zegher
authors.forename: V M
authors.initials: VM
authors.lastname: Chavez
authors.forename: M
authors.initials: M
authors.lastname: Muller
authors.forename: J A
authors.initials: JA
authors.lastname: Martial
mesh_terms: 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
chemical_list: 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