HGNC Approved Gene Symbol: IGKDEL
Cytogenetic location: 2p11.2 Genomic coordinates (GRCh38): 2:88,832,222-88,833,331 (from NCBI)
In the course of genomic 'walking' experiments in the region of the human J(kappa)-C(kappa) complex, Klobeck and Zachau (1986) found that the element that mediates the deletion of the C(kappa) gene segment in human lambda light chain-producing B cells is located 24 kb downstream of the C(kappa) gene (147200). The kappa deleting element is flanked by hepta- and nonanucleotide recognition sequences similar to the ones adjacent to the J(kappa) gene segments. Complementary recognition sequences with a 30-bp spacer were found in the J(kappa)-C(kappa) intron. Thus, the 2 partners of a recombination event in this immunoglobulin gene system are linked on the physical map. The orientation of the recombination signals of the intron and the IGKDE sequences allows a joining by a simple deletion mechanism.
Klobeck and Zachau (1986) identified the IGKDEL gene on chromosome 2p12. The corresponding sequence in the mouse is termed Rs and is located on mouse chromosome 6.
Klobeck, H.-G., Zachau, H. G. The human C(K) gene segment and the kappa deleting element are closely linked. Nucleic Acids Res. 14: 4591-4603, 1986. [PubMed: 3086844] [Full Text: https://doi.org/10.1093/nar/14.11.4591]