The phosphoglucomutase 1 (PGM1) gene was differentially expressed in tissues of Chinese Meishan and Large White pigs. In this study, the promoter region, expression profile, and genetic mutations of the gene were determined. Expression of a 5'-deletion in both C2C12 and PK-15 cells showed that a negative regulatory element was at -1871 to +185 bp and a positive regulatory element was at -1158 to +185 bp. Among the different types of muscle fibers, PGM1 had the highest expression in both longissimus dorsi and biceps femoris. The expression was concentrated in the muscle fibers at different growth stages of Meishan and Large White pigs. The synonymous mutation C462T in the coding sequence was confirmed by polymerase chain reaction-restriction fragment length polymorphism, and the frequency of the C allele was dominant in Chinese indigenous breeds. Association analysis with lean meat showed that the C462T site was different.
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