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Methylome and transcriptome data integration reveals aberrantly regulated genes in equine sarcoids
Ewelina Semik-Gurgul1, Tomasz Szmatoła2, Artur Gurgul3
1Department of Animal Molecular Biology, National Research Institute of Animal Production, Krakowska 1 St., 32-083, Balice, Poland.
Biochimie
|May 21, 2023
Summary
Aberrant DNA methylation is linked to equine sarcoid progression. This study identified differentially methylated sites and genes, revealing pathways involved in tumor development and offering potential biomarkers for horse susceptibility.
Area of Science:
- Epigenetics
- Molecular Biology
- Veterinary Oncology
Background:
- DNA methylation is crucial for gene regulation and implicated in tumor development.
- Equine sarcoids are common skin tumors in horses with poorly understood epigenetic mechanisms.
Purpose of the Study:
- To investigate aberrant DNA methylation and gene expression in equine sarcoids.
- To identify genes and molecular pathways associated with sarcoid progression.
Main Methods:
- Reduced representation bisulfite sequencing (RRBS) for methylome profiling.
- RNA sequencing (RNA-Seq) for transcriptome profiling.
- Integration of methylome and transcriptome data.
Main Results:
- Lower DNA methylation levels observed in sarcoid lesion samples compared to controls.
- Identified 14,692 differentially methylated sites (DMSs) and 11,712 differentially expressed genes (DEGs).
- Aberrant DNA methylation potentially deregulates 493 genes, activating pathways like ECM, OXPHOS, and immune response.
Conclusions:
- Epigenetic alterations, specifically DNA methylation changes, play a significant role in equine sarcoid development.
- Findings provide insights into molecular mechanisms driving sarcoid progression.
- This study offers a valuable resource for identifying biomarkers for equine sarcoid susceptibility.

