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Giemsa-negative chromosome bands preferentially recombine in cancer-associated translocations and gene fusions

Mandahl, Nils LU and Mitelman, Felix LU orcid (2023) In Genes Chromosomes and Cancer 62(2). p.61-74
Abstract

Chromosome abnormalities, in particular translocations, and gene fusions are hallmarks of neoplasia. Although both have been recognized as important drivers of cancer for decades, our knowledge of the characterizing features of the cytobands involved in recombinations is poorly understood. The present study, based on a comparative analysis of 10 442 translocation breakpoints and 30 762 gene fusions comprising 13 864 protein-coding genes, is the most comprehensive evaluation of the interactions of cytobands participating in the formation of such rearrangements in cancer. The major conclusion is that although large G-negative, gene-rich bands are most frequently involved, the greatest impact was seen for staining properties. Thus, 60% of... (More)

Chromosome abnormalities, in particular translocations, and gene fusions are hallmarks of neoplasia. Although both have been recognized as important drivers of cancer for decades, our knowledge of the characterizing features of the cytobands involved in recombinations is poorly understood. The present study, based on a comparative analysis of 10 442 translocation breakpoints and 30 762 gene fusions comprising 13 864 protein-coding genes, is the most comprehensive evaluation of the interactions of cytobands participating in the formation of such rearrangements in cancer. The major conclusion is that although large G-negative, gene-rich bands are most frequently involved, the greatest impact was seen for staining properties. Thus, 60% of the recombinations leading to the formation of both translocations and fusion genes take place between two G-negative bands whereas only about 10% involve two G-positive bands. There is compelling evidence that G-negative bands contain more genes than dark staining bands and it has previously been shown that breakpoints involved in structural chromosome rearrangements and in gene fusions preferentially affect gene-rich bands. The present study not only corroborates these findings but in addition demonstrates that the recombination processes favor the joining of two G-negative cytobands and that this feature may be a stronger factor than gene content. It is reasonable to assume that the formation of translocations and fusion genes in cancer cells, irrespective of whether they have a pathogenetically significant impact or not, may be mediated by some underlying mechanisms that either favor the origin or provide a selective advantage for recombinations of G-negative cytobands.

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author
and
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
cancer, chromosome bands, chromosome recombinations, chromosomes, gene fusions, translocations
in
Genes Chromosomes and Cancer
volume
62
issue
2
pages
14 pages
publisher
John Wiley & Sons Inc.
external identifiers
  • scopus:85139010865
  • pmid:36116030
ISSN
1045-2257
DOI
10.1002/gcc.23095
language
English
LU publication?
yes
id
558b8521-fecf-4d6a-83a0-f7bbc00a4eec
date added to LUP
2022-12-22 09:06:59
date last changed
2024-06-10 05:53:04
@article{558b8521-fecf-4d6a-83a0-f7bbc00a4eec,
  abstract     = {{<p>Chromosome abnormalities, in particular translocations, and gene fusions are hallmarks of neoplasia. Although both have been recognized as important drivers of cancer for decades, our knowledge of the characterizing features of the cytobands involved in recombinations is poorly understood. The present study, based on a comparative analysis of 10 442 translocation breakpoints and 30 762 gene fusions comprising 13 864 protein-coding genes, is the most comprehensive evaluation of the interactions of cytobands participating in the formation of such rearrangements in cancer. The major conclusion is that although large G-negative, gene-rich bands are most frequently involved, the greatest impact was seen for staining properties. Thus, 60% of the recombinations leading to the formation of both translocations and fusion genes take place between two G-negative bands whereas only about 10% involve two G-positive bands. There is compelling evidence that G-negative bands contain more genes than dark staining bands and it has previously been shown that breakpoints involved in structural chromosome rearrangements and in gene fusions preferentially affect gene-rich bands. The present study not only corroborates these findings but in addition demonstrates that the recombination processes favor the joining of two G-negative cytobands and that this feature may be a stronger factor than gene content. It is reasonable to assume that the formation of translocations and fusion genes in cancer cells, irrespective of whether they have a pathogenetically significant impact or not, may be mediated by some underlying mechanisms that either favor the origin or provide a selective advantage for recombinations of G-negative cytobands.</p>}},
  author       = {{Mandahl, Nils and Mitelman, Felix}},
  issn         = {{1045-2257}},
  keywords     = {{cancer; chromosome bands; chromosome recombinations; chromosomes; gene fusions; translocations}},
  language     = {{eng}},
  number       = {{2}},
  pages        = {{61--74}},
  publisher    = {{John Wiley & Sons Inc.}},
  series       = {{Genes Chromosomes and Cancer}},
  title        = {{Giemsa-negative chromosome bands preferentially recombine in cancer-associated translocations and gene fusions}},
  url          = {{http://dx.doi.org/10.1002/gcc.23095}},
  doi          = {{10.1002/gcc.23095}},
  volume       = {{62}},
  year         = {{2023}},
}