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. 2015 Jan 23;6:6094. doi: 10.1038/ncomms7094

Figure 4. Schematic representation of the episomal reintegration in Patient OC.

Figure 4

The TCRβ locus is displayed (top lane, not to scale). A functional Vβ7.4-to-Dβ1 rearrangement generating an excised TRECβ, and containing a (Vβ7.4/Dβ1) signal joint (SJ) is represented. The episome might have been open at the SJ by a nick–nick process44 generating 3′ hydroxyl ends before integration in chromosome 1. The episome is integrated in reverse orientation 10 kb downstream of the STIL gene, and 7 kb upstream of the TAL1 gene (middle lane). A 10-bp deletion (Δ, underlined) occurred at the insertion site. Localization of cryptic RSSs used by illegitimate V(D)J-mediated SIL-TAL deletion, and by t(1;14) TCRδ/TAL1 translocations are indicated by black arrow heads. TAL1 promoters (P1a, P1b, P4) are indicated. The breakpoints sequences (Bkp1/2) are shown (bottom lane). N, N regions; Vβ7.4 and Dβ1 RSSs are indicated, with heptamers (7) and nonamers (9) depicted.