The genomic organization and the full coding region of the human PAX7 gene.

The PAX7 gene encodes a transcription factor that is a member of the PAX family of developmental control genes. In addition to playing a role in embryogenesis, PAX genes appear to be of importance in a number of diverse human diseases and cancers. The PAX7 gene maps to human chromosomal region 1p36 and therefore is a potential candidate for human disorders linked to this region. In particular, a rearrangement of the PAX7 gene by chromosomal translocation is frequently found in alveolar rhabdomyosarcoma tumors. Here, we cloned a cDNA containing the full coding region of the human PAX7 gene and determined its genomic organization. The gene encodes a predicted protein of 520 amino acids that is 47 amino acids longer at the carboxy end than the highly related PAX3 protein. The coding region of the gene is interrupted by seven introns, the positions and lengths of which are similar to those of the corresponding introns of the PAX3 gene. Sequence data for exon/intron boundaries of PAX7 exons 1, 5, 6, 7, and 8 were determined and, together with previously published data for exons 2, 3, and 4, provide the complete sequence information for mutation analysis of the human PAX7 gene.