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对肌肉脂肪含量进行差异选择的兔子进行的双变量全基因组关联研究揭示了与肉质和胴体品质性状相关的多效性基因组区域和基因。

Bivariate GWAS performed on rabbits divergently selected for intramuscular fat content reveals pleiotropic genomic regions and genes related to meat and carcass quality traits.

作者信息

Sosa-Madrid Bolívar Samuel, Zubiri-Gaitán Agostina, Ibañez-Escriche Noelia, Blasco Agustín, Hernández Pilar

机构信息

Institute for Animal Science and Technology, Universitat Politècnica de València, 46022, Valencia, Spain.

出版信息

Genet Sel Evol. 2025 Jul 11;57(1):36. doi: 10.1186/s12711-025-00971-5.

Abstract

BACKGROUND

Meat quality plays an important economic role in the meat industry and livestock breeding programmes. Intramuscular fat content (IMF) is one of the main meat quality parameters and its genetic improvement has led breeders to investigate its genomic architecture and correlation with other relevant traits. Genetic markers associated with causal variants for these traits can be identified by bivariate analyses. In this study, we used two rabbit lines divergently selected for IMF to perform bivariate GWAS with the aim of detecting pleiotropic genomic regions between IMF and several weight, fat, and meat quality traits. Additionally, whole-genome sequencing data from these lines were used to identify potential causal variants associated with the genetic markers.

RESULTS

The main pleiotropic region was found on Oryctolagus cuniculus chromosome (OCC) 1 between 35.4 Mb and 38.2 Mb, explaining up to 2.66% of the IMF genetic variance and being associated with all traits analysed, except muscle lightness. In this region, the potentially causal variants found pointed to PLIN2, SH3GL2, CNTLN, and BNC2 as the main candidate genes affecting the different weight, fat depots and meat quality traits. Other relevant pleiotropic regions found were those on OCC3 (148.94-150.89 Mb) and on OCC7 (27.07-28.44 Mb). The first was associated with all fat depot traits and explained the highest percentage of genetic variance, up to 10.90% for scapular fat. Several allelic variants were found in this region, all located in the novel gene ENSOCUG00000000157 (orthologous to ST3GAL1 in other species), involved in lipid metabolism, suggesting it as the main candidate affecting fat deposition. The region on OCC7 was associated with most meat quality traits and explained 8.48% of the genetic variance for pH. No allele variants were found to segregate differently between the lines in this region; however, it remains a promising region for future functional studies.

CONCLUSIONS

Our results showed that bivariate models assuming pleiotropic effects are valuable tools to identify genomic regions simultaneously associated with IMF and several weight, fat and meat quality traits. Overall, our results provided relevant insights into the correlations and relationships between traits at the genomic level, together with potential functional mutations, which would be relevant for exploration in rabbit and other livestock breeding programmes.

摘要

背景

肉质在肉类行业和家畜育种计划中发挥着重要的经济作用。肌内脂肪含量(IMF)是主要的肉质参数之一,其遗传改良促使育种者研究其基因组结构以及与其他相关性状的相关性。通过双变量分析可以识别与这些性状的因果变异相关的遗传标记。在本研究中,我们使用两个针对IMF进行了不同方向选择的兔品系进行双变量全基因组关联研究(GWAS),目的是检测IMF与几个体重、脂肪和肉质性状之间的多效性基因组区域。此外,还利用这些品系的全基因组测序数据来识别与遗传标记相关的潜在因果变异。

结果

主要的多效性区域位于穴兔染色体(OCC)1上35.4 Mb至38.2 Mb之间,解释了高达2.66%的IMF遗传变异,并且与除肌肉亮度外的所有分析性状相关。在该区域,发现的潜在因果变异指向PLIN2、SH3GL2、CNTLN和BNC2作为影响不同体重、脂肪沉积部位和肉质性状的主要候选基因。其他发现的相关多效性区域位于OCC3(148.94 - 150.89 Mb)和OCC7(27.07 - 28.44 Mb)上。第一个区域与所有脂肪沉积部位性状相关,解释了最高比例的遗传变异,肩胛脂肪的遗传变异解释率高达10.90%。在该区域发现了几个等位基因变异,均位于新基因ENSOCUG00000000157(在其他物种中与ST3GAL1同源)中,该基因参与脂质代谢,表明它是影响脂肪沉积的主要候选基因。OCC7上的区域与大多数肉质性状相关,解释了pH值遗传变异的8.48%。在该区域未发现等位基因变异在品系间有不同的分离情况;然而,它仍然是未来功能研究的一个有前景的区域。

结论

我们的结果表明,假设存在多效性效应的双变量模型是识别与IMF以及几个体重、脂肪和肉质性状同时相关的基因组区域的有价值工具。总体而言,我们的结果在基因组水平上提供了有关性状之间相关性和关系的相关见解,以及潜在的功能突变,这对于兔和其他家畜育种计划的探索具有重要意义。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f0a3/12254991/0cb05c5d9e77/12711_2025_971_Fig1_HTML.jpg

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