Sequenciamento de nova geração na elucidação de mecanismos genéticos envolvidos no acometimento de hérnia escrotal em suínos.

Abstract

Scrotal hernia (SH), as it is a complex trait, many genes can influence this phenotype, thus, the etiology of SH remains unclear. In order to identify potential markers that make an important role in the development of SH, two analyzes were performed with next generation sequencing. In the first analysis, we aim to identify the biological and genetic mechanisms involved in its occurrence, by analyzing the transcriptome of the inguinal ring of swine affected and not affected by SH. According to the results of the transcriptome, the expression profile of differentially expressed genes was associated with reduced smooth muscle differentiation, followed by the low calcium content in the cell, which could lead to a lower proportion of apoptosis and decreased muscle contraction in the inguinal canal region. In this perspective, the MYBPC1, BOK, SLC25A4, SLC8A3, DES, TPM2, MAP1CL3C and FGF1 genes were considered strong candidates for future evaluation. Additively, in the second analysis, using the transcriptome and exome data, we aim to identify possible new mutations and genes involved in the occurrence of SH in pigs. In this study, an integrated functional analysis of the data revealed important genes belonging to molecular mechanisms related to smooth muscle differentiation, collagen formation, neurogenesis, muscle contraction and apoptosis, which may be associated with the development of SH in pigs. We emphasize that the variants, located in coding and regulatory regions of the C8B, P4HA2, PDSS1, MYRF, MPZ, NUDT22 and GAPDH genes, can alter their expression and protein function, in addition to interfering in the expression of other genes, partially controlling the development of SH in pigs. The results obtained here, contribute to a better understanding of the genetic mechanisms of pigs affected by SH, enabling the future development of a diagnostic method to identify animals with SH.