THE GENOMIC ORGANIZATION AND THE FULL CODING REGION OF THE HUMAN PAX7GENE

The PAX7 gene encodes a transcription factor that is a member of the P AX family of developmental control genes. In addition to playing a rol e in embryogenesis, PAX genes appear to be of importance in a number o f diverse human diseases and cancers. The PAX7 gene maps to human chro mosomal region 1p36 and therefore is a potential candidate for human d isorders 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 c oding region of the human PAX7 gene and determined its genomic organiz ation. 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 intron s, the positions and lengths of which are similar to those of the corr esponding introns of the PAX3 gene. Sequence data for exon/intron boun daries of PAX7 exons 1, 5, 6, 7, and 8 were determined and, together w ith previously published data for exons 2, 3, and 4, provide the compl ete sequence information for mutation analysis of the human PAX7 gene. (C) 1997 Academic Press.