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. 2013 Jul 2;41(17):8210–8219. doi: 10.1093/nar/gkt566

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© The Author(s) 2013. 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/3.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.

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Figure 3. — SW613-Tu1. Structure of the chromosome 17 bearing the hsr. (A) Schematic representation deduced from FISH analysis. The region 53.5–64.2 Mb is duplicated on both sides of the hsr and is in head-to-head orientation (arrows). (B) SNP profile of chromosome 17q in the region of the hsr insertion. The total copy number is indicated on the left, and the number of copies present in the chromosome bearing the hsr (after deduction of the two copies corresponding to the normal chromosomes) is indicated on the right. a–e: regions with different copy numbers. (C) Final schematic representation of the site of insertion. Lengths of the regions are not to scale. Regions b, c and d and junctions 1 and 2 are defined in B. The green regions both sides of the hsr are in head-to-head orientation (region b) and contain a deletion of 0.65 Mb (region c). An additional head-to-head duplication of 0.84 Mb is present near the hsr (region c) with a deletion of 1.6 kb at the junction (del). A segment of 156 bp from chromosome 21 is inserted between the chromosome 17 segment and the hsr. The distal part of the chromosome is constituted by the end of the short arm of chromosome 7. (D) Model of formation of the rearranged chromosome. A first double-strand chromosome break generated a free DNA end (a), and after replication, two free DNA ends were present on the sister chromatids (b) The sister chromatids then fused and a dicentric chromosome containing the head-to-head duplication was formed (c), red cross: deletion. After a break in the dicentric chromosome during mitosis, a chromosome 21 fragment and MYC amplicons were associated (d), and at the end of the process, a double-strand break was formed in the inserted amplified segment (e). At the following cell division (f), the fusion of the broken sister chromatids generated a new dicentric chromosome with the symmetric regions centred on the hsr (g). After a new break in the chromosome 17 (h), the BFB cycles were ended by healing the break with the distal region of the chromosome 7 short arm (i).