Figure 4. Schematics of Different Atypical Kappa Rearrangements.
Figure 4a: Probable inversional rearrangement between Jκ5 and Jκ1. The signal joint contains 23-RSS sequences derived from Jκ1 and Jκ5 (because they are flanked by intronic sequences upstream of Jκ1 and Jκ5). Only the Jκ4 sequence is shown to the right of the signal joint because only the Jκ4 segment was recovered in the PCR due to the use of primers upstream of Jκ1 and within Jκ4 (arrows). Two distinct rearrangements of this type were recovered; the sequences are excerpted in fig. 3b (#2 and #3) and provided in detail in fig. S3.
Figure 4b: Complex Aberrant κ Rearrangements on one chromosome of a hybridoma. Rearrangements involving Vκ20, probably Jκ4 (RSS-23), Jκ2 and Jκ5 were recovered in a single PCR amplification using primers in Jκ5 and Vκ20 (arrows) in a splenic hybridoma derived from a 56R anti-DNA heavy chain knock in mouse (Sekiguchi et al., 2006). Two possible rearrangement scenarios are illustrated, both of which begin with an inversional rearrangement between Jκ1 and Jκ4. After the presumed inversion, Vκ20 is postulated to invade the proposed Jκ1/Jκ4 signal joint and Jκ2 is postulated to rearrange to Jκ5, deleting the intervening Jκs. The open triangle with wavy edging indicates an incomplete 23-RSS with bases missing from the heptamer. Based on the flanking sequence, this heptamer most likely derives from the Jκ4 gene segment. Both junctions from these complex rearrangements were recovered; the sequences are excerpted in fig. 3b (#5 and #6) and provided in detail in fig. S4.
Figure 4c: Probable Inversional Rearrangement of Vκ12 to the JCintron Heptamer. A PCR product containing a conventional Vκ4-Jκ2 rearrangement, the Jκ4 and Jκ5 gene segments, part of the JC-intron and an inverted Vκ12 gene segment was obtained, demonstrating loss of the JCintron heptamer (fig. 3b). The simplest explanation is an inversional rearrangement of Vκ12 to the cryptic heptamer in the JCintron on an allele that has already undergone conventional Vκ4-Jκ2 rearrangement. The dashed triangle represents the cryptic heptamer of the intronic RSS. The sequence of the atypical rearrangement is excerpted in fig. 3b (#4) and provided in detail in fig. S5.