A missense mutation in ISPD contributes to maintain muscle fiber stability

Lijin Guo; Siyu Zhang; Yibin Xu; Yulin Huang; Wei Luo; Qi Wen; Guanxuan Liu; Weiling Huang; Haiping Xu; Biao Chen; Qinghua Nie

doi:10.1016/j.psj.2022.102143

A missense mutation in ISPD contributes to maintain muscle fiber stability

Poult Sci. 2022 Nov;101(11):102143. doi: 10.1016/j.psj.2022.102143. Epub 2022 Aug 31.

Authors

Lijin Guo¹, Siyu Zhang¹, Yibin Xu¹, Yulin Huang¹, Wei Luo², Qi Wen¹, Guanxuan Liu¹, Weiling Huang¹, Haiping Xu¹, Biao Chen³, Qinghua Nie⁴

Affiliations

¹ Guangdong Provincial Key Lab of Agro-Animal Genomics and Molecular Breeding, and Key Laboratory of Chicken Genetics, Breeding and Reproduction, Ministry of Agriculture, College of Animal Science, South China Agricultural University, Guangzhou, Guangdong, China.
² State Key Laboratory of Livestock and Poultry Breeding, Guangdong Key Laboratory of Animal Breeding and Nutrition, Guangdong Public Laboratory of Animal Breeding and Nutrition, Institute of Animal Science, Guangdong Academy of Agricultural Sciences, Guangzhou, China.
³ College of Animal Science & Technology, Jiangxi Agricultural University, Nanchang, Jiangxi, China.
⁴ Guangdong Provincial Key Lab of Agro-Animal Genomics and Molecular Breeding, and Key Laboratory of Chicken Genetics, Breeding and Reproduction, Ministry of Agriculture, College of Animal Science, South China Agricultural University, Guangzhou, Guangdong, China. Electronic address: nqinghua@scau.edu.cn.

Abstract

Background: Livestock and poultry skeletal muscle development was regulated by a variety of genetic factors playing an essential role in this process. In our de novo sequencing, a missense mutation in ISPD exon 2 showed a selected signature for well-developed muscles. However, the relationship between this mutation and muscle phenotypes remains unclear.

Results: Based on the genotype bias of this missense mutation in gamecock chickens, we compared the cross-section of muscle fibers among the individuals with different genotypes with the results showing a genotype preference of this missense mutation in the chickens with hypertrophic muscle fibers. Comparing TT- and CC-genotype ISPD showed that TT- genotype was associated with heavier skeletal muscle and a better effect on myogenesis and myofiber stability. At cellular level, ISPD was identified to inhibit myoblast proliferation, differentiation and antagonize of muscular atrophy.

Conclusion: It can be concluded that the missense mutation of Arg84Lys in ISPD was associated with well-developed muscles and demonstrated to improve chicken muscles' development.

Keywords: ISPD; atrophy antagonism; missense mutation; myofiber stability; myogenesis.

MeSH terms

Animals
Chickens* / genetics
Muscle Development
Muscle Fibers, Skeletal / physiology
Muscle, Skeletal
Mutation, Missense*