The structure of the human peripherin gene (PRPH) and identification of potential regulatory elements

Genomics. 1994 Jul 15;22(2):456-61. doi: 10.1006/geno.1994.1410.


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 site and 584 bp 3' to the stop codon, and compared its structure and sequence to the rat and mouse genes. The overall structure of 9 exons separated by 8 introns is conserved among these three mammalian species. The nucleotide sequences of the human peripherin gene exons were 90% identical to the rat gene sequences, and the predicted human peripherin protein differed from rat peripherin at only 18 of 475 amino acid residues. Comparison of the 5' flanking regions of the human peripherin gene and rodent genes revealed extensive areas of high homology. Additional conserved segments were found in introns 1 and 2. Within the 5' region, potential regulatory sequences, including a nerve growth factor negative regulatory element, a Hox protein binding site, and a heat shock element, were identified in all peripherin genes. The positional conservation of each element suggests that they may be important in the tissue-specific, developmental-specific, and injury-specific expression of the peripherin gene.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • Gene Expression Regulation
  • Genes*
  • Humans
  • Intermediate Filament Proteins / genetics*
  • Membrane Glycoproteins*
  • Mice
  • Molecular Sequence Data
  • Nerve Tissue Proteins*
  • Peripherins
  • Rats
  • Regulatory Sequences, Nucleic Acid*
  • Sequence Homology, Nucleic Acid
  • Species Specificity


  • Intermediate Filament Proteins
  • Membrane Glycoproteins
  • Nerve Tissue Proteins
  • PRPH protein, human
  • Peripherins
  • Prph protein, mouse
  • Prph protein, rat

Associated data

  • GENBANK/L14565