MAPPING OF THE HUMAN IL1O GENE AND FURTHER CHARACTERIZATION OF THE 5'-FLANKING SEQUENCE

Interleukin-10 (IL-10) is an important regulatory cytokine whose invol vement extends into diverse areas of the human immune system. Recent c haracterization of the promoter and 5' flanking regions has demonstrat ed the presence of positive and negative regulatory segments in the pr omoter. In addition, the characterization of two dinucleotide repeat e lements immediately upstream of the gene has shown that there is consi derable polymorphism directly associated with the human IL10 gene. In the present report, we describe the mapping of the human IL10 gene to a discrete area of chromosome 1, the definition of a potential cytokin e-responsive segment 3-4 kilobases upstream of the transcription initi ation site, and the identification of two new point mutations in the i mmediate promoter region with their distribution in a panel of 75 unre lated healthy individuals. These data should further the understanding of how the ILIO gene is controlled in humans and how its function may vary between individuals.