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肌肉中差异等位基因特异性表达揭示了与肉质性状相关的功能变异和候选基因。

Differential Allele-Specific Expression Revealed Functional Variants and Candidate Genes Related to Meat Quality Traits in Muscle.

机构信息

Center of Biological Sciences and Health, Federal University of São Carlos, São Carlos 13560-000, SP, Brazil.

Embrapa Pecuária Sudeste, São Carlos 13560-000, SP, Brazil.

出版信息

Genes (Basel). 2022 Dec 11;13(12):2336. doi: 10.3390/genes13122336.

Abstract

Traditional transcriptomics approaches have been used to identify candidate genes affecting economically important livestock traits. Regulatory variants affecting these traits, however, remain under covered. Genomic regions showing allele-specific expression (ASE) are under the effect of -regulatory variants, being useful for improving the accuracy of genomic selection models. Taking advantage of the better of these two methods, we investigated single nucleotide polymorphisms (SNPs) in regions showing differential ASE (DASE SNPs) between contrasting groups for beef quality traits. For these analyses, we used RNA sequencing data, imputed genotypes and genomic estimated breeding values of muscle-related traits from 190 Nelore () steers. We selected 40 contrasting unrelated samples for the analysis (N = 20 animals per contrasting group) and used a beta-binomial model to identify ASE SNPs in only one group (i.e., DASE SNPs). We found 1479 DASE SNPs (FDR ≤ 0.05) associated with 55 beef-quality traits. Most DASE genes were involved with tenderness and muscle homeostasis, presenting a co-expression module enriched for the protein ubiquitination process. The results overlapped with epigenetics and phenotype-associated data, suggesting that DASE SNPs are potentially linked to -regulatory variants affecting simultaneously the transcription and phenotype through chromatin state modulation.

摘要

传统的转录组学方法已被用于鉴定影响重要经济家畜性状的候选基因。然而,影响这些性状的调控变体仍未被发现。表现等位基因特异性表达 (ASE) 的基因组区域受调控变体的影响,这对于提高基因组选择模型的准确性非常有用。利用这两种方法的优势,我们研究了在具有不同牛肉质量性状的两组之间表现出差异 ASE (DASE SNPs) 的区域中的单核苷酸多态性 (SNP)。对于这些分析,我们使用了来自 190 头 Nelore()公牛的 RNA 测序数据、推断的基因型和与肌肉相关性状的基因组估计育种值。我们选择了 40 个具有对比性的无关样本进行分析(每组 N = 20 个动物),并使用贝塔二项式模型仅在一组中识别 ASE SNPs(即 DASE SNPs)。我们发现了 1479 个 DASE SNPs(FDR ≤ 0.05)与 55 个牛肉质量性状相关。大多数 DASE 基因与嫩度和肌肉动态平衡有关,表现出富含蛋白质泛素化过程的共表达模块。结果与表观遗传学和表型相关数据重叠,表明 DASE SNPs 可能与影响转录和表型的调控变体有关,通过染色质状态调节同时影响转录和表型。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1dc6/9777870/f932937b4312/genes-13-02336-g001.jpg

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