THE STRUCTURE OF THE HUMAN PERIPHERIN GENE (PRPH) AND IDENTIFICATION OF POTENTIAL REGULATORY ELEMENTS

We determined the complete nucleotide sequence of the coding region of the human peripherin gene (PRPH), as well as 742 bp 5' to the cap sit e and 584 bp 3' to the stop codon, and compared its structure and sequ ence to the rat and mouse genes. The overall structure of 9 exons sepa rated by 8 introns is conserved among these three mammalian species. T he nucleotide sequences of the human peripherin gene exons were 90% id entical to the rat gene sequences, and the predicted human peripherin protein differed from rat peripherin at only 18 of 475 amino acid resi dues. Comparison of the 5' flanking regions of the human peripherin ge ne and rodent genes revealed extensive areas of high homology. Additio nal conserved segments were found in introns 1 and 2. Within the 5' re gion, potential regulatory sequences, including a nerve growth factor negative regulatory element, a Hox protein binding site, and a heat sh ock element, were identified in all peripherin genes. The positional c onservation of each element suggests that they may be important in the tissue-specific, developmental-specific, and injury-specific expressi on of the peripherin gene. (C) 1994 Academic Press, Inc.