Martínez-Montes Angel M, Muiños-Bühl Anixa, Fernández Almudena, Folch Josep M, Ibáñez-Escriche Noelia, Fernández Ana I
Departamento de Genética Animal, Instituto Nacional de Investigación y Tecnología Agraria y Alimentaria (INIA), 28040, Madrid, Spain.
Departament de Ciència Animal i dels Aliments, Facultat de Veterinària, Universitat Autònoma de Barcelona (UAB), 08193, Bellaterra, Spain.
Mamm Genome. 2017 Apr;28(3-4):130-142. doi: 10.1007/s00335-016-9674-3. Epub 2016 Dec 10.
Genetical genomics approaches aim at identifying quantitative trait loci for molecular traits, also known as intermediate phenotypes, such as gene expression, that could link variation in genetic information to physiological traits. In the current study, an expression GWAS has been carried out on an experimental Iberian × Landrace backcross in order to identify the genomic regions regulating the gene expression of those genes whose expression is correlated with growth, fat deposition, and premium cut yield measures in pig. The analyses were conducted exploiting Porcine 60K SNP BeadChip genotypes and Porcine Expression Microarray data hybridized on mRNA from Longissimus dorsi muscle. In order to focus the analysis on productive traits and reduce the number of analyses, only those probesets whose expression showed significant correlation with at least one of the seven phenotypes of interest were selected for the eGWAS. A total of 63 eQTL regions were identified with effects on 36 different transcripts. Those eQTLs overlapping with phenotypic QTLs on SSC4, SSC9, SSC13, and SSC17 chromosomes previously detected in the same animal material were further analyzed. Moreover, candidate genes and SNPs were analyzed. Among the most promising results, a long non-coding RNA, ALDBSSCG0000001928, was identified, whose expression is correlated with premium cut yield. Association analysis and in silico sequence domain annotation support TXNRD3 polymorphisms as candidate to regulate ALDBSSCG0000001928 expression, which can be involved in the transcriptional regulation of surrounding genes, affecting productive and meat quality traits.
遗传基因组学方法旨在识别分子性状的数量性状位点,这些分子性状也被称为中间表型,如基因表达,其可将遗传信息的变异与生理性状联系起来。在当前研究中,已对伊比利亚猪×长白猪回交实验群体进行了表达全基因组关联研究(expression GWAS),以识别调控那些其表达与猪的生长、脂肪沉积和优质切块产量指标相关的基因的基因表达的基因组区域。利用猪60K单核苷酸多态性(SNP)基因芯片基因型和在背最长肌mRNA上杂交的猪表达微阵列数据进行了分析。为了将分析聚焦于生产性状并减少分析数量,仅选择那些其表达与七个感兴趣的表型中的至少一个显示出显著相关性的探针集用于表达全基因组关联研究。共鉴定出63个影响36种不同转录本的表达数量性状位点(eQTL)区域。对那些与先前在相同动物材料中检测到的位于4号、9号、13号和17号猪染色体上的表型数量性状位点重叠的eQTL进行了进一步分析。此外,还对候选基因和单核苷酸多态性进行了分析。在最有前景的结果中,鉴定出了一个长链非编码RNA,即ALDBSSCG0000001928,其表达与优质切块产量相关。关联分析和电子序列结构域注释支持TXNRD3多态性作为调节ALDBSSCG0000001928表达的候选因素,其可能参与周围基因的转录调控,影响生产性状和肉质性状。