Azcona Florencia, Molina Antonio, Demyda-Peyrás Sebastián
Cátedra de Medicina Equina, Facultad de Ciencias Veterinarias, Universidad Nacional de La Plata, Calle 60 y 118 s/n, La Plata 1900, Argentina.
Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET), CCT La Plata, La Plata 1900, Argentina.
Int J Mol Sci. 2024 Dec 24;26(1):26. doi: 10.3390/ijms26010026.
Analyzing genetic variability and inbreeding trends is essential for effective breed management in animal populations. To this, the characterization of runs of homozygosity (ROH) provides a good genomic approach to study the phenomena. The Polo Argentino (PA) breed, globally recognized as the best adapted to playing polo, is known for its strong influence of Thoroughbreds, intense selective breeding, and extensive use of reproductive biotechnologies. This study investigates the PA's genomic variability, by characterizing the ROH landscape and identifying ROH islands (ROHi) as potential genomic footprints for the breed. PA horses ( = 506) were genotyped using EquineGGP™ array v5 (70 k). We calculated the inbreeding coefficient based on ROH (F-ancestral and recent) using a chromosomal approach. Finally, we identified genomic regions with increased ROH frequency (ROHi) and their associated genes. An average of 79.5 ROH per horse was detected, with a mean length of 4.6 Mb. The average F was 0.151, but most of them (54%) corresponded to ancestral inbreeding (ROH < 5.5 Mb). However, 4 ROHi were identified in ECA 1, 3, 7 and 17, containing 67 genes, some of which were related to behavior, neurodevelopment, and metabolic functions. This genomic analysis determined, for the first time, the length and location of homozygosity segments in the PA breed and identified ROHi associated with potential genomic regions and genes for positive selection in the breed.
分析遗传变异性和近交趋势对于动物种群的有效品种管理至关重要。为此,纯合子片段(ROH)的特征描述为研究这些现象提供了一种很好的基因组方法。阿根廷马球马(PA)品种在全球被公认为最适合打马球,以其受纯种马的强烈影响、高强度的选择性育种以及生殖生物技术的广泛应用而闻名。本研究通过描述ROH格局并将ROH岛(ROHi)确定为该品种潜在的基因组印记,来研究PA的基因组变异性。使用EquineGGP™ 5.0版(70k)芯片对506匹PA马进行基因分型。我们采用染色体方法基于ROH计算近交系数(祖先和近期的F)。最后,我们确定了ROH频率增加的基因组区域(ROHi)及其相关基因。每匹马平均检测到79.5个ROH,平均长度为4.6 Mb。平均F为0.151,但其中大多数(54%)对应于祖先近交(ROH < 5.5 Mb)。然而,在ECA 1、3、7和17号染色体上鉴定出4个ROHi,包含67个基因,其中一些与行为、神经发育和代谢功能有关。这项基因组分析首次确定了PA品种纯合子片段的长度和位置,并鉴定出与该品种潜在基因组区域和正选择基因相关的ROHi。