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A comprehensive allele specific expression resource for the equine transcriptome.

Harrison D Heath1, Sichong Peng1,2, Tomasz Szmatola1,3

  • 1Department of Population Health and Reproduction, Davis School of Veterinary Medicine, University of California, Room 4206 Vet Med3A One Shields Ave, Davis, CA, 95616, USA.

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|January 30, 2025
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Summary
This summary is machine-generated.

Allele-specific expression (ASE) analysis reveals regulatory variation in horse genomes. This study identified significant ASE events, particularly in liver tissue, offering insights into equine gene regulation.

Keywords:
EpigeneticsFAANGHaplotypeHorseRNA-sequencing

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Area of Science:

  • Genomics
  • Molecular Biology
  • Animal Science

Background:

  • Allele-specific expression (ASE) analysis offers detailed insights into cis-regulatory mechanisms governing gene expression.
  • Understanding ASE is crucial for deciphering gene regulation complexities.

Purpose of the Study:

  • To conduct a comprehensive allele-specific expression analysis in equine tissues.
  • To identify and characterize allele expression events in horses.
  • To investigate the tissue-specific patterns of allelic imbalance.

Main Methods:

  • Integrated analysis of Iso-seq and short-read RNA sequencing data from four Thoroughbred horses across nine tissues.
  • Quantification of allele expression using haplotypes derived from long-read sequencing data.
  • Validation of identified allele-specific variants in a larger cohort of equine liver samples.

Main Results:

  • Comparison of 42,900 allele expression events revealed 635 (1.48%) instances of ASE.
  • Liver tissue exhibited the highest proportion of ASE events.
  • Genetic variants associated with ASE were frequently located within histone-modified regions (64.2%).
  • Validation confirmed ASE in 97% of tested allele-specific variants.

Conclusions:

  • The study generated a valuable, publicly accessible resource for equine gene regulation research.
  • Results underscore the significant tissue-specific nature of allelic imbalance in the equine genome.
  • This work facilitates future investigations into regulatory variation within equine tissues.