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Related Concept Videos

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Polymorphisms rs55710213 and rs56334587 regulate SCD1 expression by modulating HNF4A binding.

Gang Pan1, Marco Cavalli1, Claes Wadelius1

  • 1Science for Life Laboratory, Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.

Biochimica Et Biophysica Acta. Gene Regulatory Mechanisms
|June 25, 2021
PubMed
Summary

Hepatocyte Nuclear Factor 4 Alpha (HNF4A) directly regulates stearoyl-CoA desaturase 1 (SCD1) gene expression by binding to its regulatory regions. This interaction is crucial for lipid metabolism and may impact diseases linked to SCD1 or HNF4A dysfunction.

Keywords:
HNF4ASCD1rs55710213rs56334587

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Area of Science:

  • Molecular Biology
  • Genetics
  • Metabolic Diseases

Background:

  • Stearoyl-CoA desaturase 1 (SCD1) is a key enzyme in fatty acid biosynthesis, and its dysregulation is implicated in metabolic disorders like NAFLD and obesity.
  • Hepatocyte Nuclear Factor 4 Alpha (HNF4A) is a critical regulator of glucose and lipid metabolism, with suspected involvement in SCD1 regulation.
  • The precise mechanisms by which HNF4A influences SCD1 activity remain largely unexplored.

Purpose of the Study:

  • To elucidate the regulatory relationship between HNF4A and the SCD1 gene.
  • To investigate the molecular mechanisms underlying HNF4A-mediated regulation of SCD1 expression.
  • To assess the functional impact of genetic variants within SCD1 on HNF4A binding and gene activity.

Main Methods:

  • Investigated HNF4A binding to regulatory regions of the SCD1 gene.
  • Utilized gene knockdown of HNF4A to assess its effect on SCD1 expression.
  • Analyzed the impact of specific SCD1 variants (rs55710213, rs56334587) and their haplotypes on HNF4A binding and enhancer activity.

Main Results:

  • HNF4A directly binds to key regulatory regions within the SCD1 locus, confirming transcriptional regulation.
  • Knockdown of HNF4A significantly downregulates SCD1 gene expression.
  • Genetic variants rs55710213 and rs56334587 are located within an HNF4A binding site; the GG haplotype disrupts HNF4A binding, reducing enhancer activity and SCD1 expression.

Conclusions:

  • SCD1 expression is directly regulated by HNF4A through binding to its locus.
  • Specific genetic variants in SCD1 can impair HNF4A binding, leading to reduced SCD1 activity.
  • Findings provide insights into metabolic dysregulation in diseases involving altered SCD1 and/or HNF4A.