Istituto di Biologia e Biotecnologia Agraria, Consiglio Nazionale delle Ricerche, 20133 Milan, Italy.
Genetics. 2010 Aug;185(4):1451-61. doi: 10.1534/genetics.110.116111. Epub 2010 May 17.
The genomics revolution has spurred the undertaking of HapMap studies of numerous species, allowing for population genomics to increase the understanding of how selection has created genetic differences between subspecies populations. The objectives of this study were to (1) develop an approach to detect signatures of selection in subsets of phenotypically similar breeds of livestock by comparing single nucleotide polymorphism (SNP) diversity between the subset and a larger population, (2) verify this method in breeds selected for simply inherited traits, and (3) apply this method to the dairy breeds in the International Bovine HapMap (IBHM) study. The data consisted of genotypes for 32,689 SNPs of 497 animals from 19 breeds. For a given subset of breeds, the test statistic was the parametric composite log likelihood (CLL) of the differences in allelic frequencies between the subset and the IBHM for a sliding window of SNPs. The null distribution was obtained by calculating CLL for 50,000 random subsets (per chromosome) of individuals. The validity of this approach was confirmed by obtaining extremely large CLLs at the sites of causative variation for polled (BTA1) and black-coat-color (BTA18) phenotypes. Across the 30 bovine chromosomes, 699 putative selection signatures were detected. The largest CLL was on BTA6 and corresponded to KIT, which is responsible for the piebald phenotype present in four of the five dairy breeds. Potassium channel-related genes were at the site of the largest CLL on three chromosomes (BTA14, -16, and -25) whereas integrins (BTA18 and -19) and serine/arginine rich splicing factors (BTA20 and -23) each had the largest CLL on two chromosomes. On the basis of the results of this study, the application of population genomics to farm animals seems quite promising. Comparisons between breed groups have the potential to identify genomic regions influencing complex traits with no need for complex equipment and the collection of extensive phenotypic records and can contribute to the identification of candidate genes and to the understanding of the biological mechanisms controlling complex traits.
基因组学革命推动了对许多物种的 HapMap 研究,使群体基因组学能够增加对亚种群体之间选择如何产生遗传差异的理解。本研究的目的是:(1) 通过比较亚群和更大群体之间的单核苷酸多态性 (SNP) 多样性,开发一种在表型相似的家畜品种亚群中检测选择特征的方法;(2) 在选择具有简单遗传特征的品种中验证这种方法;(3) 将这种方法应用于国际牛 HapMap (IBHM) 研究中的奶牛品种。数据包括来自 19 个品种的 497 只动物的 32689 个 SNP 的基因型。对于给定的品种亚群,测试统计量是亚群和 IBHM 之间 SNP 滑动窗口中等位基因频率差异的参数复合对数似然 (CLL)。通过计算个体的 50000 个随机子集 (每条染色体) 的 CLL 获得了零分布。通过在多毛 (BTA1) 和黑毛色 (BTA18) 表型的因果变异位点获得极大的 CLL,证实了这种方法的有效性。在 30 个牛染色体上,检测到 699 个潜在的选择特征。最大的 CLL 位于 BTA6 上,与 KIT 相对应,KIT 负责五个奶牛品种中的四个品种的花斑表型。钾通道相关基因位于三个染色体 (BTA14、-16 和 -25) 的最大 CLL 位点,而整合素 (BTA18 和 -19) 和丝氨酸/精氨酸丰富剪接因子 (BTA20 和 -23) 分别在两个染色体上具有最大的 CLL。基于本研究的结果,将群体基因组学应用于家畜似乎很有前景。品种组之间的比较有可能识别影响复杂特征的基因组区域,而无需复杂的设备和广泛的表型记录的收集,这有助于鉴定候选基因,并理解控制复杂特征的生物学机制。