A missense mutation in ISPD contributes to maintain muscle fiber stability

Area of Science:

• Animal Genetics
• Muscle Biology
• Poultry Science

Background:

• Skeletal muscle development in livestock and poultry is crucial and influenced by genetic factors.
• A novel missense mutation in the ISPD gene was identified with a selective signature for enhanced muscle development.
• The precise link between this ISPD mutation and observed muscle phenotypes required further investigation.

Purpose of the Study:

• To investigate the association between a specific missense mutation in the ISPD gene and muscle development phenotypes in chickens.
• To elucidate the cellular mechanisms underlying the mutation's effect on myogenesis and muscle fiber characteristics.

Main Methods:

• Genotype-phenotype association analysis based on the missense mutation in gamecock chickens.
• Comparative analysis of muscle fiber cross-sections across different genotypes.
• Cellular assays to assess the impact of ISPD on myoblast proliferation, differentiation, and muscle atrophy.

Main Results:

• A significant genotype preference for the missense mutation was observed in chickens exhibiting hypertrophic muscle fibers.
• The TT-genotype of ISPD was strongly correlated with increased skeletal muscle weight and improved myogenesis and myofiber stability compared to the CC-genotype.
• ISPD was found to inhibit myoblast proliferation and differentiation while counteracting muscular atrophy at the cellular level.

Conclusions:

• The missense mutation Arg84Lys in the ISPD gene is directly associated with well-developed muscles in chickens.
• This specific ISPD mutation demonstrably enhances chicken muscle development, offering potential for genetic improvement strategies.