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. 2021 Feb 22;11:4325. doi: 10.1038/s41598-021-83399-3

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© The Author(s) 2021

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.

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Results of GTG and molecular karyotyping of cell lines with r(8). (a) aCGH profiles of chromosome 8 in lymphocytes (left) showing a terminal deletion of 8p23.3-p23.1 and duplication at 8p23.1-p11.22 and fibroblasts (right) showing the complex structure of the short arm of chromosome 8 with del8p23.3-p23.1, del8p23.1, dup8p12-p11.23, and del8p11.22-p11.1 [CytoGenomics (v. 3.0.6.6) (https://www.agilent.com/en/download-agilent-cytogenomics-software)]. (b) FISH analysis showing r(8) morphology and confirming the inverted status of a duplication (invdup8p23.1-p11.22) and the approximate positions of the FISH probes on chromosome 8 (red: probe for the unique gene TUSC3; green: probe for the unique gene UNC5D) [ISIS software (v.5.5), MetaSystems (https://metasystems-international.com/en/products/isis/)]. (c) Examples of chromosome 8 pairs in fibroblasts and iPSCs with r(8) and its derivatives: translocation t(7:8) and disomy 8. (d) Possible mechanism of r(8) origin: exchange between low-copy repeats leading to the formation of dicentric chromosome and acentric fragment, containing two terminal regions of chromosome 8. This resulted in the deletion of the 8p23.3-p23.1 region. During cytokinesis, a chromatid break occurred in the 8p11.22 region, leading to the deletion of the 8p23.1-p11.22 region in one daughter cell and duplication of this region in another daughter cell. Then the chromosome was closed into the observed ring chromosome, which contains a duplication of the region 8p23.1-p11.22 and deletion of the region 8p23.3-p23.1. (e) Karyotype rates in fibroblasts (left) and iPSC lines (right) at different passages. (f) aCGH profiles of iPSC lines demonstrating iPSC-r(8)-2 at P8 with signs of multiple rearrangements or chromoanagenesis and at P11 with two copies of chromosome 8 (UPD8), iPSC-r(8)-1 at P8 with monosomy 8, iPSC-r(8)-3 at P9 with UPD8, iPSC-r(8)-4 at P9 with UPD8, iPSC-r(8)-5 at P5 with signs of multiple rearrangements or chromoanagenesis, and iPSC-r(8)-6 at P5 with loss of most of the genetic content of chromosome 8 or chromothripsis [CytoGenomics (v. 5.0.2.5) (https://www.agilent.com/en/download-agilent-cytogenomics-software)].