Human interferon regulatory factor-1 gene and its promoter sequences revealed by population-based complete gene sequencing

DNA Seq. 2008 Jun;19(3):326-31. doi: 10.1080/10425170701606177.

Abstract

Interferon regulatory factor-1 (IRF-1) plays important roles in host immunity, cell proliferation and apoptosis. The current GenBank sequence for human IRF-1 (accession number: L05072) was derived from a human placenta DNA library and reported in 1992. In one recent population-based sequence study, we observed consistent discrepancies between our IRF-1 sequence data and GenBank reference sequences suggesting that, current IRF-1 reference sequence was not representative for all populations. By complete gene sequencing, we obtained a representative full-length IRF-1 sequence from a single subject. Compared to submission L05072, our population-based data contains: 35 nucleotide additions, 8 nucleotide removals and another 12 nucleotide replacements. A single nucleotide difference was observed in the IRF-1 promoter sequence compared to GenBank sequence (X53095). These changes were confirmed in 350 Kenyans and 28 non-African donors. The accuracy of a reference sequence is crucial for downstream genetic and functional studies and this study provides more complete and accurate data on the sequence of the human IRF-1 gene and its immediate promoter region.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Genetics, Population
  • Humans
  • Interferon Regulatory Factor-1 / genetics*
  • Molecular Sequence Data
  • Promoter Regions, Genetic / genetics*
  • Sequence Alignment
  • Sequence Analysis, DNA

Substances

  • Interferon Regulatory Factor-1