Porto-Neto Laercio R, Sonstegard Tad S, Liu George E, Bickhart Derek M, Da Silva Marcos V B, Machado Marco A, Utsunomiya Yuri T, Garcia Jose F, Gondro Cedric, Van Tassell Curtis P
Animal Genetics Laboratory, The University of Queensland, School of Veterinary Science, Gatton, QLD 4343, Australia.
BMC Genomics. 2013 Dec 13;14(1):876. doi: 10.1186/1471-2164-14-876.
Natural selection has molded evolution across all taxa. At an arguable date of around 330,000 years ago there were already at least two different types of cattle that became ancestors of nearly all modern cattle, the Bos taurus taurus more adapted to temperate climates and the tropically adapted Bos taurus indicus. After domestication, human selection exponentially intensified these differences. To better understand the genetic differences between these subspecies and detect genomic regions potentially under divergent selection, animals from the International Bovine HapMap Experiment were genotyped for over 770,000 SNP across the genome and compared using smoothed F(ST). The taurine sample was represented by ten breeds and the contrasting zebu cohort by three breeds.
Each cattle group evidenced similar numbers of polymorphic markers well distributed across the genome. Principal components analyses and unsupervised clustering confirmed the well-characterized main division of domestic cattle. The top 1% smoothed F(ST), potentially associated to positive selection, contained 48 genomic regions across 17 chromosomes. Nearly half of the top F(ST) signals (n = 22) were previously detected using a lower density SNP assay. Amongst the strongest signals were the BTA7:50 Mb and BTA14:25 Mb; both regions harboring candidate genes and different patterns of linkage disequilibrium that potentially represent intrinsic differences between cattle types. The bottom 1% of the smoothed F(ST) values, potentially associated to balancing selection, included 24 regions across 13 chromosomes. These regions often overlap with copy number variants, including the highly variable region at BTA23:~24 Mb that harbors a large number of MHC genes. Under these regions, 318 unique Ensembl genes are annotated with a significant overrepresentation of immune related pathways.
Genomic regions that are potentially linked to purifying or balancing selection processes in domestic cattle were identified. These regions are of particular interest to understand the natural and human selective pressures to which these subspecies were exposed to and how the genetic background of these populations evolved in response to environmental challenges and human manipulation.
自然选择塑造了所有分类群的进化。在大约33万年前这一有争议的时间点,已经至少存在两种不同类型的牛,它们成为了几乎所有现代牛的祖先,即更适应温带气候的普通牛(Bos taurus taurus)和适应热带气候的瘤牛(Bos taurus indicus)。驯化之后,人工选择极大地强化了这些差异。为了更好地理解这些亚种之间的遗传差异,并检测可能受到趋异选择的基因组区域,对国际牛类单倍型图谱计划(International Bovine HapMap Experiment)中的动物进行了全基因组超过77万个单核苷酸多态性(SNP)的基因分型,并使用平滑后的Fst进行比较。普通牛样本由10个品种代表,与之对比的瘤牛群组由3个品种代表。
每个牛群都显示出数量相似的多态性标记,且在基因组中分布良好。主成分分析和无监督聚类证实了家牛已被充分描述的主要分类。平滑后的Fst值排名前1%,可能与正选择相关,包含了17条染色体上的48个基因组区域。近一半的Fst最强信号(n = 22)之前使用密度较低的SNP检测方法已被检测到。其中最强的信号位于BTA7:50 Mb和BTA14:25 Mb;这两个区域都含有候选基因以及不同的连锁不平衡模式,可能代表了牛类型之间的内在差异。平滑后的Fst值排名后1%,可能与平衡选择相关,包括13条染色体上的24个区域。这些区域经常与拷贝数变异重叠,包括BTA23:~24 Mb处的高变区,该区域含有大量主要组织相容性复合体(MHC)基因。在这些区域之下,有318个独特的Ensembl基因被注释,其中免疫相关途径显著富集。
确定了家牛中可能与纯化或平衡选择过程相关的基因组区域。这些区域对于理解这些亚种所面临的自然和人工选择压力,以及这些种群的遗传背景如何响应环境挑战和人工操作而进化具有特别重要的意义。