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猪线粒体DNA拷贝数与生产性状之间的关联

Association between mitochondrial DNA copy number and production traits in pigs.

作者信息

Molinero Eduard, Pena Ramona N, Estany Joan, Ros-Freixedes Roger

机构信息

Departament de Ciència Animal, Universitat de Lleida, Lleida, Spain.

Agrotecnio-CERCA Center, Lleida, Spain.

出版信息

J Anim Breed Genet. 2025 Mar;142(2):170-183. doi: 10.1111/jbg.12894. Epub 2024 Aug 27.

DOI:10.1111/jbg.12894
PMID:39189093
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11812088/
Abstract

Mitochondria are essential organelles in the regulation of cellular energetic metabolism. Mitochondrial DNA copy number (mtDNA_CN) can be used as a proxy for mitochondria number, size, and activity. The aims of our study are to evaluate the effect of mtDNA_CN and mitochondrial haploblocks on production traits in pigs, and to identify the genetic background of this cellular phenotype. We collected performance data of 234 pigs and extracted DNA from skeletal muscle. Whole-genome sequencing data was used to determine mtDNA_CN. We found positive correlations of muscle mtDNA_CN with backfat thickness at 207 d (+0.14; p-value = 0.07) and negative correlations with carcase loin thickness (-0.14; p-value = 0.03). Pigs with mtDNA_CN values below the lower quartile had greater loin thickness (+4.1 mm; p-value = 0.01) and lower backfat thickness (-1.1 mm; p-value = 0.08), which resulted in greater carcase lean percentage (+2.4%; p-value = 0.04), than pigs with mtDNA_CN values above the upper quartile. These results support the hypothesis that a reduction of mitochondrial activity is associated with greater feed efficiency. Higher mtDNA_CN was also positively correlated with higher meat ultimate pH (+0.19; p-value <0.01) but we did not observe significant difference for meat ultimate pH between the two groups with extreme mtDNA_CN. We found no association of the most frequent mitochondrial haploblocks with mtDNA_CN or the production traits, but several genomic regions that harbour potential candidate genes with functions related to mitochondrial biogenesis and homeostasis were associated with mtDNA_CN. These regions provide new insights into the genetic background of this cellular phenotype but it is still uncertain if such associations translate into noticeable effects on the production traits.

摘要

线粒体是调节细胞能量代谢的重要细胞器。线粒体DNA拷贝数(mtDNA_CN)可作为线粒体数量、大小和活性的替代指标。我们研究的目的是评估mtDNA_CN和线粒体单倍型模块对猪生产性状的影响,并确定这种细胞表型的遗传背景。我们收集了234头猪的性能数据,并从骨骼肌中提取了DNA。利用全基因组测序数据来确定mtDNA_CN。我们发现肌肉mtDNA_CN与207日龄时的背膘厚度呈正相关(+0.14;p值 = 0.07),与胴体腰部厚度呈负相关(-0.14;p值 = 0.03)。mtDNA_CN值低于下四分位数的猪比mtDNA_CN值高于上四分位数的猪有更厚的腰部厚度(+4.1毫米;p值 = 0.01)和更低的背膘厚度(-1.1毫米;p值 = 0.08),这导致胴体瘦肉率更高(+2.4%;p值 = 0.04)。这些结果支持了线粒体活性降低与更高饲料效率相关的假设。较高的mtDNA_CN也与较高的肉最终pH值呈正相关(+0.19;p值 <0.01),但我们没有观察到两组极端mtDNA_CN的肉最终pH值有显著差异。我们没有发现最常见的线粒体单倍型模块与mtDNA_CN或生产性状之间的关联,但几个含有与线粒体生物发生和稳态相关功能的潜在候选基因的基因组区域与mtDNA_CN相关。这些区域为这种细胞表型的遗传背景提供了新的见解,但这种关联是否会转化为对生产性状的显著影响仍不确定。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7491/11812088/ac1a877272d9/JBG-142-170-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7491/11812088/ac1a877272d9/JBG-142-170-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7491/11812088/ac1a877272d9/JBG-142-170-g001.jpg

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Anim Biotechnol. 2023 Oct 27;35(1):2272172. doi: 10.1080/10495398.2023.2272172. Epub 2023 Nov 15.
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Unravelling the genetic basis for skeletal muscle mitochondrial DNA copy number variations in pigs.
解析猪骨骼肌线粒体DNA拷贝数变异的遗传基础。
Sci China Life Sci. 2024 Jan;67(1):211-214. doi: 10.1007/s11427-022-2397-1. Epub 2023 Oct 25.
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Genetic and phenotypic associations of mitochondrial DNA copy number, SNP, and haplogroups with growth and carcass traits in beef cattle.线粒体 DNA 拷贝数、SNP 和单倍群与肉牛生长和胴体性状的遗传和表型关联。
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