The human pro-opiomelanocortin gene: organization, sequence, and interspersion with repetitive DNA.

The human pro-opiomelanocortin (POMC) gene has been characterized by molecular cloning and DNA sequence analysis. Although this gene codes for several different polypeptide hormones, only a single intron interrupts the protein coding region. The DNA in this intron, and in a second intron found in the region of the gene homologous to the mRNA 5'-untranslated sequence, contains repetitive DNA sequences. At least some of these sequences belong to the Alu family of transcribed middle repetitive DNA. The determination of the complete nucleotide sequence of the coding regions of the gene demonstrates that the pattern of homologous and variable regions seen in the POMC protein between different species is reflected at the DNA level. DNA sequences encoding the highly conserved regions of POMC are 90-95% homologous between species while the coding sequences for the variable regions of the protein are approximately 70% homologous. The very high degree of homology in the amino terminal portion of POMC is consistent with an important physiological role for this peptide.