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Single nucleotide polymorphism creating a variable upstream open reading frame regulates glucocorticoid receptor

Claudia Marceca1, Martina Pfob2, Gustav Schelling3

  • 1Institute of Human Genetics, University Hospital, Ludwig-Maximilians-University Munich, Goethestraße 29, 80336 Munich, Germany; Department of Physiology and Pharmacology, Sapienza University of Rome, P.le A. Moro 5, 00185 Rome, Italy.

Gene
|March 16, 2015
PubMed
Summary

Genetic variants in stress hormone receptors NR3C1 and NR3C2 impact gene regulation. A specific SNP (rs10482612) creates a functional uORF, altering receptor protein activity under stress.

Keywords:
Cellular stressGlucocorticoid receptorMineralocorticoid receptorNR3C1NR3C2SNPUpstream open reading frame

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Area of Science:

  • Genetics
  • Molecular Biology
  • Endocrinology

Background:

  • Glucocorticoid and mineralocorticoid receptors (NR3C1, NR3C2) are vital for stress response.
  • Genetic variations and regulatory mechanisms in these receptor genes are not fully understood.

Purpose of the Study:

  • Investigate upstream open reading frames (uORFs) in NR3C1 and NR3C2 5' untranslated regions (5'UTRs).
  • Determine the functional impact of a specific single nucleotide polymorphism (SNP), rs10482612, on gene regulation.

Main Methods:

  • In silico analysis to identify SNPs in NR3C1 and NR3C2 5'UTRs.
  • Reporter gene assays and quantitative real-time PCR (qRT-PCR) for functional validation.

Main Results:

  • Identified SNP rs10482612, with the minor allele 'A' creating a potential uORF.
  • Functional assays confirmed that the minor allele 'A' of rs10482612 creates a functional uORF.
  • This functional uORF alters NR3C1 transcript variant 1 protein activity during baseline and stress conditions.

Conclusions:

  • The SNP rs10482612 and its minor allele 'A' represent a novel regulatory mechanism in NR3C1 gene expression.
  • This finding sheds light on genetic influences on stress hormone receptor function and cellular stress responses.