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.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Codon
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DNA / metabolism
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DNA-Binding Proteins / chemistry
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DNA-Binding Proteins / genetics*
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DNA-Binding Proteins / metabolism
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Female
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Human Growth Hormone / deficiency*
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Humans
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Infant
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Male
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Pedigree
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Point Mutation*
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Polymerase Chain Reaction
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Prolactin / deficiency*
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Proline / genetics
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Protein Structure, Secondary
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Saudi Arabia
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Serine / genetics
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Thyrotropin / deficiency*
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Transcription Factor Pit-1
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Transcription Factors / chemistry
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Transcription Factors / genetics*
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Transcription Factors / metabolism
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Transcription, Genetic
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Transcriptional Activation
Substances
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Codon
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DNA-Binding Proteins
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POU1F1 protein, human
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Transcription Factor Pit-1
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Transcription Factors
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Human Growth Hormone
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Serine
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Prolactin
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Thyrotropin
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DNA
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Proline