Novel Chromosomal-abnormalities in biopsies of Pterygion found by RNA-seq

Abstract

Aims To identify the presence of fusion genes in pterygium extracted in a hospital in southern Peru. Methods In this perspective and exploratory study, we used next-generation sequencing (NGS) methodologies to process four pterygium samples obtained by surgical exeresis. The information obtained from RNA-seq was analyzed by Arriba (version 1.2.0), a novel computational tool with high sensitivity and a short processing time run to detect fusion genes. Results Fusion genes were found in all samples. Some of these genes did not show functional characteristics, unlike the PSMC3 - NXF1 and WNK1 - ZNF79 fusion genes, which have retained protein domains and in-frame fusions. This means that they synthesize proteins that can act as powerful drivers in the genesis of pterygium. Conclusion The discovery of fusion genes shows structural variations in the development of the pterygium. These findings suggest these genes should be new therapeutic targets in future research.