The c.-360 T>C mutation affects PGAM2 transcription activity and is linked with the water holding capacity of the longissimus lumborum muscle in pigs.

The phosphoglycerate mutase 2 (PGAM2) gene encodes a key enzyme in the glycolytic process. This study examined a functional mutation in the PGAM2 gene and evaluated its relationship with water holding capacity (WHC). RT-qPCR analysis showed the PGAM2 mRNA level was significantly higher in the low-WHC group than in the high-WHC group (P<0.05). The c.–360 T>C mutation was identified through sequencing and found to have opposite allele distributions in the two groups. The allele was further genotyped in 170 Duroc×Large White×Yorkshire crossbred pigs using allele-specific PCR. The CC genotype was associated with lower WHC and higher PGAM2 mRNA levels, whereas the TT genotype corresponded to a higher WHC and lower PGAM2 mRNA levels (P<0.05). A luciferase activity assay also showed that the CC-genotype promoter had higher activity than the TT-genotype promoter (P<0.05). In conclusion, we discovered the c.–360 T>C mutation in the PGAM2 gene, which is a promising marker for improving pork WHC.