In humans, the functional F0F1-ATP synthase β subunit gene is located on chromosome 12 in the p13 → qter region. Other partially homologous sequences have been detected on chromosomes 2 and 17. The bona fide β subunit gene has 10 exons encoding a leader peptide of 49 amino acids and a mature protein of 480 amino acids. Thirteen Alu family DNA repeats are found upstream from the gene and in four introns. The gene has four "CCAAT" sequences upstream and in close proximity to the transcriptional initiation site. A 13-bp motif is found in the 5′ nontranscribed region of both the β subunit gene and an ADP ATP translocator gene that is expressed in high levels in cardiac and skeletal muscle. Analysis of the β subunit mRNA levels reveals marked differences among tissues. The highest levels are found in heart, lower levels in skeletal muscle, and the lowest levels in liver and kidney. These findings suggest that the tissue-specific levels of ATP synthase β subunit mRNA may be generated through transcriptional control.
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