Programa de Pós-graduação em Zootecnia, Centro de Educação Superior do Oeste, Universidade do Estado de Santa Catarina, UDESC, Chapecó, Santa Catarina, Brazil.
Embrapa Suínos e Aves, Concórdia, Santa Catarina, Brazil.
PLoS One. 2020 May 7;15(5):e0232542. doi: 10.1371/journal.pone.0232542. eCollection 2020.
Umbilical hernia (UH) is one of the most frequent defects affecting pig production, however, it also affects humans and other mammals. UH is characterized as an abnormal protrusion of the abdominal contents to the umbilical region, causing pain, discomfort and reduced performance in pigs. Some genomic regions associated to UH have already been identified, however, no study involving RNA sequencing was performed when umbilical tissue is considered. Therefore, here, we have sequenced the umbilical ring transcriptome of five normal and five UH-affected pigs to uncover genes and pathways involved with UH development. A total of 13,216 transcripts were expressed in the umbilical ring tissue. From those, 230 genes were differentially expressed (DE) between normal and UH-affected pigs (FDR <0.05), being 145 downregulated and 85 upregulated in the affected compared to the normal pigs. A total of 68 significant biological processes were identified and the most relevant were extracellular matrix, immune system, anatomical development, cell adhesion, membrane components, receptor activation, calcium binding and immune synapse. The results pointed out ACAN, MMPs, COLs, EPYC, VIT, CCBE1 and LGALS3 as strong candidates to trigger umbilical hernias in pigs since they act in the extracellular matrix remodeling and in the production, integrity and resistance of the collagen. We have generated the first transcriptome of the pig umbilical ring tissue, which allowed the identification of genes that had not yet been related to umbilical hernias in pigs. Nevertheless, further studies are needed to identify the causal mutations, SNPs and CNVs in these genes to improve our understanding of the mechanisms of gene regulation.
脐疝（UH）是影响猪生产的最常见缺陷之一，但也会影响人类和其他哺乳动物。UH 的特征是腹部内容物异常突出到脐部区域，导致猪只疼痛、不适和性能下降。已经确定了一些与 UH 相关的基因组区域，但当涉及脐组织时，尚未进行涉及 RNA 测序的研究。因此，在这里，我们对 5 头正常和 5 头 UH 受影响的猪的脐环转录组进行了测序，以揭示与 UH 发展相关的基因和途径。总共在脐环组织中表达了 13216 个转录本。其中，230 个基因在正常和 UH 受影响的猪之间表达差异（FDR <0.05），与正常猪相比，受影响的猪中有 145 个基因下调，85 个基因上调。总共确定了 68 个重要的生物学过程，其中最相关的是细胞外基质、免疫系统、解剖发育、细胞黏附、膜成分、受体激活、钙结合和免疫突触。结果表明，ACAN、MMPs、COLs、EPYC、VIT、CCBE1 和 LGALS3 是触发猪脐疝的强候选基因，因为它们作用于细胞外基质重塑以及胶原蛋白的产生、完整性和抵抗力。我们已经生成了猪脐环组织的第一个转录组，这使得能够识别尚未与猪脐疝相关的基因。然而，需要进一步的研究来识别这些基因中的因果突变、SNP 和 CNV，以提高我们对基因调控机制的理解。
