Chromothripsis, a credible chromosomal mechanism in evolutionary process

Pellestor, Franck; Gatinois, Vincent

doi:10.1007/s00412-018-0679-4

Cited by 11 publications

(11 citation statements)

References 71 publications

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“…These break sites are then repaired in a random manner. While this process is well known, the mechanisms involved in this process are poorly understood (13,63). In our experiments, we observed that similar events take place during DSBs repair (step 3 in Fig.…”

Section: Discussionsupporting

confidence: 59%

Centromere scission drives chromosome shuffling and reproductive isolation

Yadav

Sun

Coelho

et al. 2020

Proc. Natl. Acad. Sci. U.S.A.

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A fundamental characteristic of eukaryotic organisms is the generation of genetic variation via sexual reproduction. Conversely, significant large-scale genome structure variations could hamper sexual reproduction, causing reproductive isolation and promoting speciation. The underlying processes behind large-scale genome rearrangements are not well understood and include chromosome translocations involving centromeres. Recent genomic studies in theCryptococcusspecies complex revealed that chromosome translocations generated via centromere recombination have reshaped the genomes of different species. In this study, multiple DNA double-strand breaks (DSBs) were generated via the CRISPR/Cas9 system at centromere-specific retrotransposons in the human fungal pathogenCryptococcus neoformans. The resulting DSBs were repaired in a complex manner, leading to the formation of multiple interchromosomal rearrangements and new telomeres, similar to chromothripsis-like events. The newly generated strains harboring chromosome translocations exhibited normal vegetative growth but failed to undergo successful sexual reproduction with the parental wild-type strain. One of these strains failed to produce any spores, while another produced ∼3% viable progeny. The germinated progeny exhibited aneuploidy for multiple chromosomes and showed improved fertility with both parents. All chromosome translocation events were accompanied without any detectable change in gene sequences and thus suggest that chromosomal translocations alone may play an underappreciated role in the onset of reproductive isolation and speciation.

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Section: Discussionsupporting

confidence: 59%

Centromere scission drives chromosome shuffling and reproductive isolation

Yadav

Sun

Coelho

et al. 2020

Proc. Natl. Acad. Sci. U.S.A.

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“…It is well known that the micronucleus frequency is associated with cancer risk in humans, but, e.g. chromothripsis (and probably also other ways for genome reorganization) may also play an important role in species evolution, when occurring in germline cells (Bonassi et al 2007 ; Pellestor and Gatinois 2019 ).…”

Section: Discussionmentioning

confidence: 99%

Long-term fate of etoposide-induced micronuclei and micronucleated cells in Hela-H2B-GFP cells

2020

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Micronuclei are small nuclear cellular structures containing whole chromosomes or chromosomal fragments. While there is a lot of information available about the origin and formation of micronuclei, less is known about the fate of micronuclei and micronucleated cells. Possible fates include extrusion, degradation, reincorporation and persistence. Live cell imaging was performed to quantitatively analyse the fates of micronuclei and micronucleated cells occurring in vitro. Imaging was conducted for up to 96 h in HeLa-H2B-GFP cells treated with 0.5, 1 and 2 µg/ml etoposide. While a minority of micronuclei was reincorporated into the main nucleus during mitosis, the majority of micronuclei persisted without any alterations. Degradation and extrusion were observed rarely or never. The presence of micronuclei affected the proliferation of the daughter cells and also had an influence on cell death rates. Mitotic errors were found to be clearly increased in micronucleus-containing cells. The results show that micronuclei and micronucleated cells can, although delayed in cell cycle, sustain for multiple divisions.

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“…Hybridization between two C. neglecta-like genomes with seven (n 5 7, N 7 ) and six (n 5 6, N 6 ) chromosomes led to the origin of an auto-allotetraploid C. neglecta-like genome (n 5 13, N 6 N 7 ). The allotetraploid conformations may stimulate chromothripsis occurrence (Ivkov and Bunz, 2015;Fukami et al, 2017;Pellestor and Gatinois, 2019). The evidence that plants can undergo the same extreme chromosome shattering observed in some human cancers and developmental syndromes is rather scarce and not yet conclusive.…”

Section: Evolution Of Camelina Genomes Was Accompanied By Chromosome Shatteringmentioning

confidence: 99%

Origin and Evolution of Diploid and Allopolyploid Camelina Genomes was Accompanied by Chromosome Shattering

et al. 2019

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Complexes of diploid and polyploid species have formed frequently during the evolution of land plants. In false flax (Camelina sativa), an important hexaploid oilseed crop closely related to Arabidopsis (Arabidopsis thaliana), the putative parental species as well as the origin of other Camelina species remained unknown. By using bacterial artificial chromosome-based chromosome painting, genomic in situ hybridization, and multi-gene phylogenetics, we aimed to elucidate the origin and evolution of the polyploid complex. Genomes of diploid camelinas (Camelina hispida, n 5 7; Camelina laxa, n 5 6; and Camelina neglecta, n 5 6) originated from an ancestral n 5 7 genome. The allotetraploid genome of Camelina rumelica (n 5 13, N 6 H) arose from hybridization between diploids related to C. neglecta (n 5 6, N 6 ) and C. hispida (n 5 7, H), and the N subgenome has undergone a substantial post-polyploid fractionation. The allohexaploid genomes of C. sativa and Camelina microcarpa (n 5 20, N 6 N 7 H) originated through hybridization between an auto-allotetraploid C. neglecta-like genome (n 5 13, N 6 N 7 ) and C. hispida (n 5 7, H), and the three subgenomes have remained stable overall since the genome merger. Remarkably, the ancestral and diploid Camelina genomes were shaped by complex chromosomal rearrangements, resembling those associated with human disorders and resulting in the origin of genome-specific shattered chromosomes.

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Chromothripsis, a credible chromosomal mechanism in evolutionary process

Cited by 11 publications

References 71 publications

Centromere scission drives chromosome shuffling and reproductive isolation

Centromere scission drives chromosome shuffling and reproductive isolation

Long-term fate of etoposide-induced micronuclei and micronucleated cells in Hela-H2B-GFP cells

Origin and Evolution of Diploid and Allopolyploid Camelina Genomes was Accompanied by Chromosome Shattering

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