title: Human interferon regulatory factor-1 gene and its promoter sequences revealed by population-based complete gene sequencing.
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.
authors.affiliation: Department of Medical Microbiology, University of Manitoba, Winnipeg, Manitoba, Canada.
authors.forename: Hezhao
authors.initials: H
authors.lastname: Ji
authors.forename: Terry B
authors.initials: TB
authors.lastname: Ball
authors.forename: Ben B
authors.initials: BB
authors.lastname: Liang
authors.forename: Joshua
authors.initials: J
authors.lastname: Kimani
authors.forename: Francis A
authors.initials: FA
authors.lastname: Plummer
mesh_terms: D001483:Base Sequence; D005828:Genetics, Population; D006801:Humans; D050856:Interferon Regulatory Factor-1 / Q000235:genetics*; D008969:Molecular Sequence Data; D011401:Promoter Regions, Genetic / Q000235:genetics*; D016415:Sequence Alignment; D017422:Sequence Analysis, DNA
chemical_list: D050856:Interferon Regulatory Factor-1