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 474 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 (p < 1/699341) and three INDELs (p < 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 (CPNE4) on chromosome 2. The wild-type and mutant individuals had significant differences in glycogen metabolism at two loci (p < 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 (NKD1). After the INDEL mutation, the glycogen content increased significantly. There was a significant difference between wild-type and mutant individuals (p < 0.01). These mutations likely affecting two genes (CPNE4 and NKD1) may affect glycogen storage in a pleiotropic manner. Gene annotation indicates that CPNE4 and NKD1 may affect the process of glucose metabolism. Our findings contribute to understanding the genetic regulation of muscle glycogen metabolism and provide theoretical support.

Highlights

  • Muscle glycogen is the main source of glucose for muscle glycolysis

  • Gene annotation indicates that copine 4 (CPNE4) and naked cuticle homolog 1 (NKD1) may affect the process of glucose metabolism

  • The results indicate that the three insertions and deletions (INDELs) dominant genotypes are wild-type, heterozygous, and wild-type

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Summary

Introduction

Muscle glycogen is the main source of glucose for muscle glycolysis. Glycolysis is the most primitive metabolic pathway for producing energy in living organisms. Study of muscle glycogen function and influencing factors will reveal the genetic mechanism of glucose metabolism and lead to its application in future molecular breeding research. Glycogen is the main form of glucose storage in the body, mainly in the form of liver and muscle glycogen. The blood glucose concentration is maintained at a relatively constant level through the synthesis and breakdown of liver glycogen. Numerous studies have suggested that the main function of muscle glycogen synthesis and breakdown is to provide the muscle with energy in the form of ATP. Under some special physiological conditions, such as intense exercise, muscle glycogen plays an important role in maintaining blood sugar stability

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