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. 2016 Jun 22;24(11):1598–1604. doi: 10.1038/ejhg.2016.75

Figure 2.

Figure 2

Possible FoSTeS/MMBIR-mediated rearrangement. The two characterised join points (JP) are shown in (a). A 2-bp microhomology (red letters) was observed at JP1 and a single-nucleotide change (turquoise letter in black box) was observed within the join point flanking region of JP2. SNPs are highlighted in green. (b) A possible FoSTeS/MMBIR-mediated rearrangement is depicted, which results from a first template switch (dotted arrow 1) from PMS2 (red bar) in the telomeric copy of the inverted LCR (light blue dashed box) to the HERV element (green bar), subsequent replication in reverse orientation until a second fork stalling in PMS2, followed by another template switch (dotted arrow 2) into intron 14 of the CCZ1B gene (purple bar) in the centromeric duplicon of the inverted LCR (dark blue dashed box). (c) Schematic representation of the rearranged allele. The red box indicates the region, which is duplicated as confirmed by array analysis. The deletion of the first 222 bp of PMS2 exon 11 is indicated. The non-transcribed PMS2 exon 11–15, as well as the transcribed fusion transcript of PMS2 exons 1–10 and a cryptic exon within CCZ1B intron 14, are shown as black boxes below the schematic representation of the rearranged allele. Exon numbering refers to NG_008466.1 (PMS2) and NC_000007.14 (CCZ1B).