Kim Dohun, Cho Hye-Sun, Kang Mingue, Ahn Byeongyong, Shin Jaeyeol, Park Chankyu
Department of Stem Cell and Regenerative Biotechnology, Konkuk University, Seoul 05029, Republic of Korea.
Genes (Basel). 2025 Apr 4;16(4):430. doi: 10.3390/genes16040430.
BACKGROUND/OBJECTIVES: β-defensins are a family of classical endogenous antimicrobial peptides involved in innate immune response. β-defensins are encoded by a large number of loci and known to show extensive copy number variations (CNVs) that may be useful as DNA markers for host resilience against pathogenic infections.
We developed a quantitative PCR-based method to estimate the genomic copy numbers of 13 pig β-defensin () genes and analyzed the range and extent of CNVs across several commercial pig breeds.
We assessed 38 animals from four pure breeds and a crossbreed and observed CNVs ranging from two to five genomic copies from , , , , , and , indicating extensive individual variations of gene copy numbers of these genes within each breed. The mean copy numbers of these s were lower in Landrace and higher in Berkshire than in other breeds. We also observed a strong correlation between the genomic copy number and their expression levels with the correlation coefficient () > 0.9 for , , and in the kidney, with these genes being highly expressed.
Although we only analyzed 13 s among 29 reported genes, our results showed the presence of extensive CNVs in β-defensins from pigs. The genomic copy number of β-defensins may contribute to improving animal resilience against pathogenic infections and other associated phenotypes.
背景/目的：β-防御素是一类参与固有免疫反应的经典内源性抗菌肽。β-防御素由大量基因座编码，已知其存在广泛的拷贝数变异（CNV），这些变异可能作为宿主抵抗病原体感染的DNA标记。
我们开发了一种基于定量PCR的方法来估计13种猪β-防御素（）基因的基因组拷贝数，并分析了多个商业猪品种中CNV的范围和程度。
我们评估了来自四个纯种和一个杂交品种的38只动物，观察到、、、、和的基因组拷贝数在2到5个之间，表明每个品种内这些基因的基因拷贝数存在广泛的个体差异。长白猪中这些的平均拷贝数较低，而伯克夏猪中的平均拷贝数高于其他品种。我们还观察到基因组拷贝数与其表达水平之间存在很强的相关性，在肾脏中，、和的相关系数（）>0.9，这些基因高度表达。
尽管我们仅分析了29个已报道基因中的13个，但我们的结果表明猪β-防御素中存在广泛的CNV。β-防御素的基因组拷贝数可能有助于提高动物抵抗病原体感染和其他相关表型的能力。
