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SINE Insertion in the Intron of Pig GHR May Decrease Its Expression by Acting as a Repressor.

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  • 1College of Animal Science and Technology, Yangzhou University, Yangzhou 225009, China.

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Summary

Retrotransposon insertion polymorphisms (RIPs) contribute to genetic variation in growth hormone/insulin-like growth factor (GH/IGF) axis genes. A SINE insertion in GHR intron 1 represses GHR gene expression, impacting growth regulation.

Keywords:
GH/IGF axisGHRSINEpigretrotransposon insertion polymorphismstructural variation

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Area of Science:

  • Genetics
  • Molecular Biology
  • Bioinformatics

Background:

  • Genetic diversity of GH/IGF axis genes is well-studied, mainly via SNPs.
  • The role of retrotransposon insertion polymorphisms (RIPs) in GH/IGF axis gene regulation remains unexplored.

Purpose of the Study:

  • To investigate the impact of RIPs on GH/IGF axis gene activity.
  • To identify and characterize RIPs within GH, GHR, IGF1, and IGF1R genes.

Main Methods:

  • Bioinformatic prediction and PCR verification to screen for RIPs.
  • Dual luciferase reporter assays to assess promoter activity.
  • Quantitative PCR (qPCR) to measure gene expression levels.

Main Results:

  • Five RIPs were identified and confirmed in GH/IGF axis genes across diverse breeds.
  • A SINE insertion in GHR intron 1 significantly repressed GHR promoter activity in multiple cell lines.
  • This SINE insertion correlated with decreased GHR expression in muscle tissues.

Conclusions:

  • RIPs contribute to the genetic variation of GH/IGF axis genes.
  • A specific SINE RIP in GHR intron 1 acts as a repressor, potentially decreasing GHR expression and influencing growth regulation.