A variation in a Pit-1 site in the growth hormone gene (GH1) promoter induces a differential transcriptional activity

Mara Giordano, Michela Godi, Francesca Giacopelli, Monica Lessi, Simona Mellone, Roberta Paracchini, Antonella Petri, Jaele Bellone, Roberto Ravazzolo, Gianni Bona, Patricia Momigliano-Richiardi

Research output: Contribution to journalArticlepeer-review

Abstract

The proximal promoter of the human growth hormone gene (GH1) is highly polymorphic. We tested if promoter haplotypes differing at possibly functional sites, namely -278T/G (in the NF1 binding site), -75A/G (in the proximal Pit-1 binding site) and -57G/T (in the VDR binding site), induced a different luciferase activity when transfected in a rat pituitary cell line. The presence of a G instead of an A at position -75 induced a more than two-fold reduced activity (p <0.0001). In accordance with this findings the electrophoretic mobility shift assay demonstrated a reduced affinity of the -75G for the pituitary transcription factor Pit-1. Despite the strong effect of this polymorphism in vitro, the -75G variation was not associated to an impairment of the GH secretion in vivo.

Original languageEnglish
Pages (from-to)51-57
Number of pages7
JournalMolecular and Cellular Endocrinology
Volume249
Issue number1-2
DOIs
Publication statusPublished - Apr 25 2006

Keywords

  • Growth hormone gene
  • Luciferase assay
  • Pit-1
  • Polymorphism

ASJC Scopus subject areas

  • Endocrinology
  • Endocrinology, Diabetes and Metabolism

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