Szmatola Tomasz, Ropka-Molik Katarzyna, Jasielczuk Igor, Kawęcka Aldona, Gurgul Artur
Department of Basic Sciences, University of Agriculture in Krakow, Rędzina 1c, 30-248 Kraków, Poland.
Department of Animal Molecular Biology, National Research Institute of Animal Production, Krakowska 1, 32-083 Balice, Poland.
Genes (Basel). 2025 Jun 14;16(6):709. doi: 10.3390/genes16060709.
: The study investigates runs of homozygosity (ROH) and heterozygosity (ROHet), and their patterns in nine sheep breeds (772 animals in total) maintained in Poland (native and conserved), corresponding to their genetic diversity, inbreeding levels, and selection signatures. : Genotypes were obtained using the Illumina OvineSNP50 BeadChip and quality-filtered SNPs were used to detect ROH and ROHet segments with the detectRUNS R package, following stringent parameters for segment length, SNP density, and genotype quality. : Significant variation in ROH characteristics was observed across breeds. Short ROH segments were predominant in all breeds, indicating historical inbreeding events. In contrast, longer ROH segments signified recent inbreeding, particularly in Swiniarka (SW) and Polish Merino of Colored Variety (MPC). The ROH-based genomic inbreeding coefficient (F) varied across breeds, with SW exhibiting the highest levels, suggesting reduced genetic diversity. ROHet analysis revealed that Uhruska (UHR) had the highest heterozygous segments span, while Black-headed (BH) sheep exhibited the lowest ROHet extent. ROH islands identified across breeds revealed regions under selection, associated with traits such as reproductive performance, wool quality, and body condition. Genes located within these islands (e.g., , , ) were linked to economically significant traits including milk production, growth, and carcass quality. : The presented results highlight the genetic adaptations shaped by selection pressures, while also providing insights into the genetic architecture of sheep breeds maintained in Poland.
该研究调查了纯合性连续片段（ROH）和杂合性连续片段（ROHet）及其在波兰饲养的九个绵羊品种（共772只动物）中的模式，这些品种包括本地品种和保育品种，研究内容涉及它们的遗传多样性、近亲繁殖水平和选择印记。使用Illumina OvineSNP50 BeadChip获得基因型，并使用经过质量过滤的单核苷酸多态性（SNP），按照片段长度、SNP密度和基因型质量的严格参数，通过detectRUNS R软件包检测ROH和ROHet片段。各品种间ROH特征存在显著差异。短ROH片段在所有品种中占主导地位，表明存在历史近亲繁殖事件。相比之下，较长的ROH片段表明近期存在近亲繁殖，特别是在斯维尼亚尔卡羊（SW）和彩色波兰美利奴羊（MPC）中。基于ROH的基因组近亲繁殖系数（F）因品种而异，SW的系数最高，表明遗传多样性降低。ROHet分析显示，乌鲁斯卡羊（UHR）的杂合片段跨度最大，而黑头羊（BH）的ROHet程度最低。在各品种中识别出的ROH岛揭示了受选择的区域，这些区域与繁殖性能、羊毛质量和身体状况等性状相关。位于这些岛内的基因（如……）与包括产奶量、生长和胴体质量在内的经济重要性状相关。所呈现的结果突出了选择压力塑造的遗传适应性，同时也为波兰饲养的绵羊品种的遗传结构提供了见解。
