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. 2016 Jan 5;25(5):1008–1018. doi: 10.1093/hmg/ddv622

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© The Author 2016. Published by Oxford University Press.

This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.

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Figure 3. — The SVA-E insertion site in the CASP8 gene on chromosome 2 and the retrotransposition-transduction event on chromosome 19. Note that all structures are drawn to preserve the genomic orientation of the CASP8 gene and the chr2 SVA-E insertion. Thus, the 5′ end of the SVA-E is to the right in the diagram and chr2 sequences are from the genomic forward strand. (A) The chr2 SVA-E (pale blue bars) is inserted into CASP8 intron 8 between the NM_033358 variant exon and exon 9 (at chr2:201281936-201284718). A copy of the SVA-E is present on chr19 (green bars). The chr19 SVA-E is flanked by a transduced 288 bp segment, including the NM_033358 variant exon, from chr2 (darker green bar). (B) The structure of the chr2 breakpoints: the left panel shows the breakpoint between the transduced sequence and CASP8 intron 8 sequence. The central panel shows the left end of the SVA-E insertion on chr2 (blue bars) with the TSD sequence indicated. The sequence of this junction is the same on the chr19 transduced copy (green bars). The right panel shows the breakpoint between the right end of the SVA-E and native CASP8 intron 8 sequence with the TSD indicated. (C) The structure of the breakpoint between the transduced sequence and native chr19 sequence: the transduced CASP8 intron 8 sequence contains a polyadenylation signal on the reverse strand (appearing here as TTTATT). Moving leftwards on the reverse strand, this is followed by a short polyA sequence (hatched green bar) then a TSD derived from native chr19 sequence. (D) The breakpoint between the 5′ end of the SVA-E and native chr19 sequence, with the TSD sequence indicated. (E) The structure of the chr19 insertion site when the SVA-E is not present. Note that here the TSD sequence is unduplicated.