Department of Agricultural and Food Sciences, Division of Animal Sciences, University of Bologna, Viale Giuseppe Fanin 46, Bologna, 40127, Italy.
Departamento Mejora Genética Animal, INIA, Crta. de la Coruña, km. 7,5, Madrid, 28040, Spain.
Anim Genet. 2021 Apr;52(2):155-170. doi: 10.1111/age.13045. Epub 2021 Feb 5.
ROHs are long stretches of DNA homozygous at each polymorphic position. The proportion of genome covered by ROHs and their length are indicators of the level and origin of inbreeding. Frequent common ROHs within the same population define ROH islands and indicate hotspots of selection. In this work, we investigated ROHs in a total of 1131 pigs from 20 European local pig breeds and in three cosmopolitan breeds, genotyped with the GGP Porcine HD Genomic Profiler. plink software was used to identify ROHs. Size classes and genomic inbreeding parameters were evaluated. ROH islands were defined by evaluating different thresholds of homozygous SNP frequency. A functional overview of breed-specific ROH islands was obtained via over-representation analyses of GO biological processes. Mora Romagnola and Turopolje breeds had the largest proportions of genome covered with ROH (1003 and ~955 Mb respectively), whereas Nero Siciliano and Sarda breeds had the lowest proportions (207 and 247 Mb respectively). The highest proportion of long ROH (>16 Mb) was in Apulo-Calabrese, Mora Romagnola and Casertana. The largest number of ROH islands was identified in the Italian Landrace (n = 32), Cinta Senese (n = 26) and Lithuanian White Old Type (n = 22) breeds. Several ROH islands were in regions encompassing genes known to affect morphological traits. Comparative ROH structure analysis among breeds indicated the similar genetic structure of local breeds across Europe. This study contributed to understanding of the genetic history of the investigated pig breeds and provided information to manage these pig genetic resources.
ROH 是指在每个多态性位置上纯合的长段 DNA。ROH 覆盖的基因组比例及其长度是衡量近交程度和起源的指标。同一群体中频繁出现的常见 ROH 定义了 ROH 岛,并指示了选择的热点。在这项工作中,我们研究了来自 20 个欧洲本地猪品种和 3 个世界性品种的总共 1131 头猪的 ROH,这些品种使用 GGP 猪 HD 基因组分析器进行了基因分型。plink 软件用于识别 ROH。评估了大小类别和基因组近交参数。通过评估不同的纯合 SNP 频率阈值来定义 ROH 岛。通过对 GO 生物过程的过度表示分析,获得了特定于品种的 ROH 岛的功能概述。Mora Romagnola 和 Turopolje 品种的基因组被 ROH 覆盖的比例最大(分别约为 1003 和 955 Mb),而 Nero Siciliano 和 Sarda 品种的比例最低(分别约为 207 和 247 Mb)。长 ROH(>16 Mb)比例最高的品种是 Apulo-Calabrese、Mora Romagnola 和 Casertana。意大利长白猪(n = 32)、Cinta Senese(n = 26)和立陶宛白老品种(n = 22)品种中鉴定出的 ROH 岛数量最多。几个 ROH 岛位于包含已知影响形态特征的基因的区域内。对品种间 ROH 结构的比较分析表明,欧洲各地的本地品种具有相似的遗传结构。这项研究有助于了解所研究猪品种的遗传历史,并为管理这些猪遗传资源提供了信息。