Stafuzza Nedenia Bonvino, Zerlotini Adhemar, Lobo Francisco Pereira, Yamagishi Michel Eduardo Beleza, Chud Tatiane Cristina Seleguim, Caetano Alexandre Rodrigues, Munari Danísio Prado, Garrick Dorian J, Machado Marco Antonio, Martins Marta Fonseca, Carvalho Maria Raquel, Cole John Bruce, Barbosa da Silva Marcos Vinicius Gualberto
Departamento de Ciências Exatas, Universidade Estadual Paulista, Faculdade de Ciências Agrárias e Veterinárias, Jaboticabal, São Paulo, Brazil.
Embrapa Informática Agropecuária, Campinas, São Paulo, Brazil.
PLoS One. 2017 Mar 21;12(3):e0173954. doi: 10.1371/journal.pone.0173954. eCollection 2017.
Whole-genome re-sequencing, alignment and annotation analyses were undertaken for 12 sires representing four important cattle breeds in Brazil: Guzerat (multi-purpose), Gyr, Girolando and Holstein (dairy production). A total of approximately 4.3 billion reads from an Illumina HiSeq 2000 sequencer generated for each animal 10.7 to 16.4-fold genome coverage. A total of 27,441,279 single nucleotide variations (SNVs) and 3,828,041 insertions/deletions (InDels) were detected in the samples, of which 2,557,670 SNVs and 883,219 InDels were novel. The submission of these genetic variants to the dbSNP database significantly increased the number of known variants, particularly for the indicine genome. The concordance rate between genotypes obtained using the Bovine HD BeadChip array and the same variants identified by sequencing was about 99.05%. The annotation of variants identified numerous non-synonymous SNVs and frameshift InDels which could affect phenotypic variation. Functional enrichment analysis was performed and revealed that variants in the olfactory transduction pathway was over represented in all four cattle breeds, while the ECM-receptor interaction pathway was over represented in Girolando and Guzerat breeds, the ABC transporters pathway was over represented only in Holstein breed, and the metabolic pathways was over represented only in Gyr breed. The genetic variants discovered here provide a rich resource to help identify potential genomic markers and their associated molecular mechanisms that impact economically important traits for Gyr, Girolando, Guzerat and Holstein breeding programs.
对代表巴西四个重要牛品种的12头公牛进行了全基因组重测序、比对和注释分析:古泽拉特牛(多用途)、吉尔牛、吉罗兰多牛和荷斯坦牛(奶牛生产)。使用Illumina HiSeq 2000测序仪为每头牛生成了总共约43亿条读数,基因组覆盖率为10.7至16.4倍。在样本中总共检测到27441279个单核苷酸变异(SNV)和3828041个插入/缺失(InDel),其中2557670个SNV和883219个InDel是新发现的。将这些遗传变异提交到dbSNP数据库显著增加了已知变异的数量,特别是对于瘤牛基因组。使用牛HD BeadChip芯片获得的基因型与通过测序鉴定的相同变异之间的一致性率约为99.05%。对变异的注释发现了许多可能影响表型变异的非同义SNV和移码InDel。进行了功能富集分析,结果显示嗅觉转导途径中的变异在所有四个牛品种中均过度富集,而细胞外基质-受体相互作用途径在吉罗兰多牛和古泽拉特牛品种中过度富集,ABC转运蛋白途径仅在荷斯坦牛品种中过度富集,代谢途径仅在吉尔牛品种中过度富集。这里发现的遗传变异提供了丰富的资源,有助于识别潜在的基因组标记及其相关分子机制,这些机制影响吉尔牛、吉罗兰多牛、古泽拉特牛和荷斯坦牛育种计划中的重要经济性状。