Reference : Pro239Ser: a novel recessive mutation of the Pit-1 gene in seven Middle Eastern child...
Scientific journals : Article
Life sciences : Biochemistry, biophysics & molecular biology
http://hdl.handle.net/2268/19827
Pro239Ser: a novel recessive mutation of the Pit-1 gene in seven Middle Eastern children with growth hormone, prolactin, and thyrotropin deficiency
English
Pernasetti, Flavia [University of California > > > >]
Milner, Robert DG [> > > >]
al Ashwal, Abdullah A Z [University of Minnesota > > > >]
de Zegher, Francis [University of Minnesota > > > >]
Chavez, Viviana M [University of Minnesota > > > >]
Muller, Marc mailto [Université de Liège - ULiège > Département des sciences de la vie > GIGA-R : Biologie et génétique moléculaire >]
Martial, Joseph mailto [Université de Liège - ULiège > Département des sciences de la vie > GIGA-R : Biologie et génétique moléculaire >]
1998
Journal of Clinical Endocrinology and Metabolism
Endocrine Society
83
6
2079-83
Yes (verified by ORBi)
International
0021-972X
Chevy Chase
MD
[en] Codon ; DNA/metabolism ; DNA-Binding Proteins/chemistry/*genetics/metabolism ; Female ; Human Growth Hormone/*deficiency ; Humans ; Infant ; Male ; Pedigree ; *Point Mutation ; Polymerase Chain Reaction ; Prolactin/*deficiency ; Proline/genetics ; Protein Structure, Secondary ; Saudi Arabia ; Serine/genetics ; Thyrotropin/*deficiency ; Transcription Factor Pit-1 ; Transcription Factors/chemistry/*genetics/metabolism ; Transcription, Genetic ; Transcriptional Activation
[en] 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.
http://hdl.handle.net/2268/19827
10.1210/jc.83.6.2079
http://jcem.endojournals.org/cgi/content/full/83/6/2079#FN3
1998/06/17

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