Pernasetti F, Milner R D, al Ashwal A A, de Zegher F, Chavez V M, Muller M, Martial J A
Laboratory of Molecular Biology and Genetic Engineering, University of Liège, Sart Tilman, Belgium.
J Clin Endocrinol Metab. 1998 Jun;83(6):2079-83. doi: 10.1210/jcem.83.6.4901.
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.
