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.

• IRF-1
• nucleotide
• gene sequence
• promoter

Acknowledgements

This work was funded by a grant from the Bill and Melinda Gates Foundation and the Canadian Institute of Health Research (CIHR) through the Grand Challenges in Global Health Initiative, National Institute of Health (RO1 A1 48373) and CIHR (CIHR HOP43135). F. Plummer is a Tier I CIHR Canadian Research Chair. H. Ji is recipient of CIHR/ International Center for Infectious Diseases national doctoral training award.

Notes

This research conformed to the guidelines of the University of Manitoba and University of Nairobi Human Research Ethics Boards.