Structure of the gene encoding the muscle-specific subunit of human phosphoglycerate mutase

We report the isolation and analysis of genomic clones containing the entire gene encoding the muscle-specific subunit of human phosphoglycerate mutase. The gene spans 2.83 kilobase pairs and has a three-exon/two-intron structure that is similar to the organization of the human 2,3-bisphosphoglycerate mutase gene (Joulin, V., Garel, M.-C., LeBoulch, P., Valentin, C., Rosa, R., Rosa, J., and Cohen-Solal, M. (1988) J. Biol. Chem. 263, 15785-15790), in that the second introns of both genes are localized precisely at the same position. A canonical TATA box and an inverted CCAAT box are present immediately upstream of this gene. Comparison with other muscle-specific enzyme genes reveals a conserved 9-base pair element (GGGGCTGGG) in the 5'-flanking region that may be associated with the expression of genes encoding muscle-specific enzymes.