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

Journal Article · Fri Jul 15 04:00:00 EDT 1994 · Genomics

DOI:https://doi.org/10.1006/geno.1994.1410· OSTI ID:250000

Foley, J; Ley, C A; Parysek, L M ^[1]

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1. Univ. of Cincinnati College of Medicine, OH (United States)

The authors determined the complete nucleotide sequence of the coding region of the human peripherin gene (PRPH), as well as 742 bp 5{prime} to the cap site and 584 bp 3{prime} 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{prime} 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{prime} 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. 24 refs., 2 figs., 1 tab.

• OSTI ID: 250000
• Journal Information: Genomics, Journal Name: Genomics Journal Issue: 2 Vol. 22; ISSN GNMCEP; ISSN 0888-7543
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
BIOLOGICAL EVOLUTION
CELL CONSTITUENTS
DNA SEQUENCING
GENES