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

Molecular and Cellular Endocrinology
Mara GiordanoPatricia Momigliano-Richiardi

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.

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Citations

Nov 4, 2006·Breast Cancer Research and Treatment·Kerstin WagnerAsta Försti
Sep 22, 2009·Nucleic Acids Research·Krishna B S SwamyHuai-Kuang Tsai
Jan 17, 2007·Clinical Endocrinology·Cristina EstebanDiego Yeste
Apr 27, 2016·Growth Hormone & IGF Research : Official Journal of the Growth Hormone Research Society and the International IGF Research Society·Shweta BirlaArundhati Sharma
Dec 28, 2007·The Journal of Clinical Endocrinology and Metabolism·Mara GiordanoPatricia Momigliano-Richiardi
Jul 11, 2020·European Journal of Human Genetics : EJHG·Deepak BabuMara Giordano
Sep 15, 2017·Growth Hormone & IGF Research : Official Journal of the Growth Hormone Research Society and the International IGF Research Society·Tharmini SundralingamAsanka Sudeshini Hewage

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