Skip to main content
. Author manuscript; available in PMC: 2018 Feb 1.
Published in final edited form as: Hum Mutat. 2016 Dec 5;38(2):180–192. doi: 10.1002/humu.23146

Figure 2. Evidence for template switching during translocation formation in individual 887-05Ö.

Figure 2

(A) A schematic overview of chr5q14.1 and 7q34 region and the structural events in individual 887-05Ö. The derivative 5 (der5) in blue and derivative 7 (der7) in green are aligned to chromosome 5 (top) and chromosome 7 (bottom). Alu elements are shown as grey boxes. The 1579 nt upstream deletion on der 5 is shown as a dashed blue line. Both deletion breakpoints as well as the translocation breakpoints are located in Alus.

(B) Sequence alignment of der5 to the corresponding regions on chromosome 5 and chromosome 7. The derivative chromosome sequences as well as the corresponding parental chromosome sequence are labeled in blue. The deletion is shown in lower case bold letters. Microhomology is highlighted in purple with the most plausible parental chromosome indicated by bold text. A 22 nt microhomology is present in the first slippage event (TSL 1) between the proximal and distal end of the der 5 upstream deletion. In the second event, chromosome 5 to chromosome 7 (TSL 2), a 3 bp microhomology is present.

(C) Der7 illustrated in green otherwise as in (B). A three-nucleotide microhomology is present in the junction.