Genomic landscape of human erythroleukemia K562 cell line, as determined by next-generation sequencing and cytogenetics
| Autor: | Piotr Stawiński, Iwona Solarska, Marcin M Machnicki, Malgorzata Kurkowiak, Tomasz Stoklosa, Małgorzata Rydzanicz, Monika Pepek, Katarzyna Borg, Rafał Płoski |
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| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
Genetics medicine.medical_specialty ABL medicine.diagnostic_test breakpoint cluster region Cytogenetics Hematology Biology Deep sequencing DNA sequencing Fusion gene 03 medical and health sciences 030104 developmental biology Oncology hemic and lymphatic diseases medicine Gene Fluorescence in situ hybridization |
| Zdroj: | Acta Haematologica Polonica. 48:343-349 |
| ISSN: | 0001-5814 |
| DOI: | 10.1016/j.achaem.2017.06.002 |
| Popis: | We have performed detailed analysis of the genomic landscape of commercially available K562 cells, employing targeted enrichment of nearly 1300 cancer-related genes followed by next-generation sequencing (NGS) and also classical cytogenetics. Deep sequencing revealed 88 variants of potentially biological significance. Among them we have detected alterations in genes already known to be mutated in K562, such as TP53 but also in several other genes, which are implicated in tumorigenesis and drug resistance, such as MLH1, ASXL1 and BRCA1 as the most prominent examples. Fluorescence in situ hybridization (FISH) of interphases of K562 cells revealed multiplication of the BCR and ABL1 gene copies, as well as the amplification of the BCR-ABL1 fusion gene. Our results may help to better understand genomic instability of the blastic phase of CML represented by the K562 cell line and can help researchers who want to employ this cell line in various experimental settings. |
| Databáze: | OpenAIRE |
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