Chromoanagenesis: cataclysms behind complex chromosomal rearrangements
Abstract Background During the last decade, genome sequencing projects in cancer genomes as well as in patients with congenital diseases and healthy individuals have led to the identification of new types of massive chromosomal rearrangements arising during single chaotic cellular events. These unan...
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| Format: | Article |
| Language: | English |
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BMC
2019-02-01
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| Series: | Molecular Cytogenetics |
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| Online Access: | http://link.springer.com/article/10.1186/s13039-019-0415-7 |
| _version_ | 1811259604996194304 |
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| author | Franck Pellestor |
| author_facet | Franck Pellestor |
| author_sort | Franck Pellestor |
| collection | DOAJ |
| description | Abstract Background During the last decade, genome sequencing projects in cancer genomes as well as in patients with congenital diseases and healthy individuals have led to the identification of new types of massive chromosomal rearrangements arising during single chaotic cellular events. These unanticipated catastrophic phenomenon are termed chromothripsis, chromoanasynthesis and chromoplexis., and are grouped under the name of “chromoanagenesis”. Results For each process, several specific features have been described, allowing each phenomenon to be distinguished from each other and to understand its mechanism of formation and to better understand its aetiology. Thus, chromothripsis derives from chromosome shattering followed by the random restitching of chromosomal fragments with low copy-number change whereas chromoanasynthesis results from erroneous DNA replication of a chromosome through serial fork stalling and template switching with variable copy-number gains, and chromoplexy refers to the occurrence of multiple inter-and intra-chromosomal translocations and deletions with little or no copy-number alterations in prostate cancer. Cumulating data and experimental models have shown that chromothripsis and chromoanasynthesis may essentially result from lagging chromosome encapsulated in micronuclei or telomere attrition and end-to-end telomere fusion. Conclusion The concept of chromanagenesis has provided new insight into the aetiology of complex structural rearrangements, the connection between defective cell cycle progression and genomic instability, and the complexity of cancer evolution. Increasing reported chromoanagenesis events suggest that these chaotic mechanisms are probably much more frequent than anticipated. |
| first_indexed | 2024-04-12T18:34:11Z |
| format | Article |
| id | doaj.art-77ada01620134c8a9f2052b8350b60aa |
| institution | Directory Open Access Journal |
| issn | 1755-8166 |
| language | English |
| last_indexed | 2024-04-12T18:34:11Z |
| publishDate | 2019-02-01 |
| publisher | BMC |
| record_format | Article |
| series | Molecular Cytogenetics |
| spelling | doaj.art-77ada01620134c8a9f2052b8350b60aa2022-12-22T03:20:59ZengBMCMolecular Cytogenetics1755-81662019-02-0112111210.1186/s13039-019-0415-7Chromoanagenesis: cataclysms behind complex chromosomal rearrangementsFranck Pellestor0Unit of Chromosomal Genetics, Department of Medical Genetics, Arnaud de Villeneuve Hospital, Montpellier CHRUAbstract Background During the last decade, genome sequencing projects in cancer genomes as well as in patients with congenital diseases and healthy individuals have led to the identification of new types of massive chromosomal rearrangements arising during single chaotic cellular events. These unanticipated catastrophic phenomenon are termed chromothripsis, chromoanasynthesis and chromoplexis., and are grouped under the name of “chromoanagenesis”. Results For each process, several specific features have been described, allowing each phenomenon to be distinguished from each other and to understand its mechanism of formation and to better understand its aetiology. Thus, chromothripsis derives from chromosome shattering followed by the random restitching of chromosomal fragments with low copy-number change whereas chromoanasynthesis results from erroneous DNA replication of a chromosome through serial fork stalling and template switching with variable copy-number gains, and chromoplexy refers to the occurrence of multiple inter-and intra-chromosomal translocations and deletions with little or no copy-number alterations in prostate cancer. Cumulating data and experimental models have shown that chromothripsis and chromoanasynthesis may essentially result from lagging chromosome encapsulated in micronuclei or telomere attrition and end-to-end telomere fusion. Conclusion The concept of chromanagenesis has provided new insight into the aetiology of complex structural rearrangements, the connection between defective cell cycle progression and genomic instability, and the complexity of cancer evolution. Increasing reported chromoanagenesis events suggest that these chaotic mechanisms are probably much more frequent than anticipated.http://link.springer.com/article/10.1186/s13039-019-0415-7ChromoanagenesisChromothripsisChromoanasynthesisChromoplexyCancerEvolution |
| spellingShingle | Franck Pellestor Chromoanagenesis: cataclysms behind complex chromosomal rearrangements Molecular Cytogenetics Chromoanagenesis Chromothripsis Chromoanasynthesis Chromoplexy Cancer Evolution |
| title | Chromoanagenesis: cataclysms behind complex chromosomal rearrangements |
| title_full | Chromoanagenesis: cataclysms behind complex chromosomal rearrangements |
| title_fullStr | Chromoanagenesis: cataclysms behind complex chromosomal rearrangements |
| title_full_unstemmed | Chromoanagenesis: cataclysms behind complex chromosomal rearrangements |
| title_short | Chromoanagenesis: cataclysms behind complex chromosomal rearrangements |
| title_sort | chromoanagenesis cataclysms behind complex chromosomal rearrangements |
| topic | Chromoanagenesis Chromothripsis Chromoanasynthesis Chromoplexy Cancer Evolution |
| url | http://link.springer.com/article/10.1186/s13039-019-0415-7 |
| work_keys_str_mv | AT franckpellestor chromoanagenesiscataclysmsbehindcomplexchromosomalrearrangements |