Atlas of Genetics and Cytogenetics in Oncology and Haematology IL 21 R ( interleukin 21 receptor )

The IL21R gene is comprised of 9 exons (+2 alternative first exons), spanning 48.4kb on chromosome 16p11 (Parrish-Novak et al., 2000). The human IL21R promoter region, contained within nucleotides -789 to +195 (relative to the start of exon 1a) induces the high levels of transcription in reporter assays (Ueda et al., 2002). A critical SP1 binding site is contained in the region from -80 to -20 and is essential for gene expression in human T cells (Wu et al., 2005). The DNA region (12MB) containing the IL21R gene contains multiple copies of large, duplicated segments (duplicons) originating in other regions of the genome (Loftus et al., 1999), which may predispose to additional duplications or deletions. Transcription