Reyer Henry, Ponsuksili Siriluck, Wimmers Klaus, Murani Eduard
Institute for Genome Biology, Leibniz Institute for Farm Animal Biology, Wilhelm-Stahl-Allee 2, 18196, Dummerstorf, Germany.
Anim Genet. 2014 Feb;45(1):125-9. doi: 10.1111/age.12083. Epub 2013 Aug 26.
The glucocorticoid receptor (GR) is a ubiquitously acting transcription factor that is responsible for mediating the physiological response to stress and adaptation to environmental conditions. Genetic variation of a GR gene (NR3C1) may therefore contribute to multiple phenotypic alterations and influence relevant traits of animal production. Here, we examined effects of two non-synonymous mutations of the porcine NR3C1, leading to amino acid exchanges p.Glu13Asp (c.39A>C) and p.Val19Leu (c.55G>C) in the N-terminal domain of the GR, on meat quality and carcass composition. In addition, we explored their influence on transcriptional activity of GR in vitro. A commercial crossbreed Pietrain × (German Large White × German Landrace) herd (n = 545) in which genotypes and relevant traits had been collected was used to perform the association analysis. The single nucleotide polymorphism (SNP) c.55G>C was significantly associated with conductivity and meat color scores. These effects were highly consistent considering the physiological relationship between these traits. Association analysis of SNP c.39A>C also revealed significant effects on closely connected meat quality traits. In addition, SNP c.55G>C showed association with carcass traits, mainly those related to muscle deposition. The molecular mechanism of action of both amino acid substitutions remains obscure because neither showed significant influence on transcriptional activity of GR. Our study emphasizes NR3C1 as an important candidate gene for muscle-related traits in pigs, but further work is necessary to clarify the molecular background of the identified associations.
糖皮质激素受体(GR)是一种广泛作用的转录因子,负责介导对压力的生理反应以及对环境条件的适应。因此,GR基因(NR3C1)的遗传变异可能导致多种表型改变,并影响动物生产的相关性状。在此,我们研究了猪NR3C1的两个非同义突变,这两个突变导致GR N端结构域中的氨基酸交换p.Glu13Asp(c.39A>C)和p.Val19Leu(c.55G>C),对肉质和胴体组成的影响。此外,我们还探讨了它们在体外对GR转录活性的影响。利用一个商业杂交群体皮特兰×(德国大白猪×德国长白猪)(n = 545)进行关联分析,该群体已收集了基因型和相关性状。单核苷酸多态性(SNP)c.55G>C与电导率和肉色评分显著相关。考虑到这些性状之间的生理关系,这些影响高度一致。SNP c.39A>C的关联分析也揭示了对紧密相关肉质性状的显著影响。此外,SNP c.55G>C与胴体性状相关,主要是与肌肉沉积有关的性状。由于这两个氨基酸替代对GR的转录活性均未显示出显著影响,其作用的分子机制仍不清楚。我们的研究强调NR3C1是猪肌肉相关性状的一个重要候选基因,但需要进一步开展工作以阐明所确定关联的分子背景。