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京星黄鸡肌肉糖原的全基因组关联研究。

Genome-Wide Association Study of Muscle Glycogen in Jingxing Yellow Chicken.

机构信息

State Key Laboratory of Animal Nutrition, Institute of Animal Sciences, Chinese Academy of Agricultural Sciences, Beijing 100193, China.

Yantai Dadi Animal Husbrandry Co., Ltd., Yantai 1265100, China.

出版信息

Genes (Basel). 2020 Apr 30;11(5):497. doi: 10.3390/genes11050497.

Abstract

Glucose metabolism plays an important role in many normal and pathological physiological processes in the body. The breakdown and synthesis of muscle glycogen provides ATP for muscle activities. A genome-wide association study for muscle glycogen was performed in 473 Jingxing yellow chickens to identify significant single nucleotide polymorphisms (SNPs) and insertions and deletions (INDELs) involved in muscle glycogen metabolism. A total of nine SNPs ( < 1/699341) and three INDELs ( < 1/755733) reached a significant level of potential association. The following results were obtained through a series of analyses, including additive effects and gene function annotation. Two significant SNPs were found in introns 12 and 13 of copine 4 () on chromosome 2. The wild-type and mutant individuals had significant differences in glycogen metabolism at two loci ( < 0.01 for both). Individuals carrying two mutations had increased muscle glycogen content. According to the gene annotation of chromosome 11, there is a significant INDEL in intron 6 of naked cuticle homolog 1 (). After the INDEL mutation, the glycogen content increased significantly. There was a significant difference between wild-type and mutant individuals ( < 0.01). These mutations likely affecting two genes ( and ) may affect glycogen storage in a pleiotropic manner. Gene annotation indicates that and may affect the process of glucose metabolism. Our findings contribute to understanding the genetic regulation of muscle glycogen metabolism and provide theoretical support.

摘要

葡萄糖代谢在体内许多正常和病理生理过程中起着重要作用。肌肉糖原的分解和合成为肌肉活动提供 ATP。本研究对 473 只景星黄鸡的肌肉糖原进行了全基因组关联研究,以鉴定与肌肉糖原代谢相关的显著单核苷酸多态性(SNPs)和插入缺失(INDELs)。共发现 9 个 SNP(<1/699341)和 3 个 INDEL(<1/755733)达到潜在关联的显著水平。通过一系列分析,包括加性效应和基因功能注释,得到以下结果。在 2 号染色体上的 copine 4()基因的第 12 和 13 内含子中发现了两个显著的 SNP。野生型和突变个体在两个位点的糖原代谢有显著差异(两者均<0.01)。携带两个突变的个体肌肉糖原含量增加。根据 11 号染色体的基因注释,在 naked cuticle homolog 1()基因的第 6 内含子中存在一个显著的 INDEL。INDEL 突变后,糖原含量显著增加。野生型和突变个体之间有显著差异(<0.01)。这两个可能影响两个基因(和)的突变可能以多效性方式影响糖原储存。基因注释表明和可能影响葡萄糖代谢过程。我们的研究结果有助于了解肌肉糖原代谢的遗传调控,并提供理论支持。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8307/7290304/8b0252e08eae/genes-11-00497-g001.jpg

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