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Open AccessJournal ArticleDOI

Catastrophic chromosomal restructuring during genome elimination in plants

TLDR
Extreme chromosomal restructuring during genome elimination, a process resulting from hybridization of Arabidopsis plants expressing different centromere histones H3, is described, providing a tractable, natural system towards investigating the causes and mechanisms of complex genomic rearrangements similar to those associated with several human disorders.
Abstract
Genome instability is associated with mitotic errors and cancer. This phenomenon can lead to deleterious rearrangements, but also genetic novelty, and many questions regarding its genesis, fate and evolutionary role remain unanswered. Here, we describe extreme chromosomal restructuring during genome elimination, a process resulting from hybridization of Arabidopsis plants expressing different centromere histones H3. Shattered chromosomes are formed from the genome of the haploid inducer, consistent with genomic catastrophes affecting a single, laggard chromosome compartmentalized within a micronucleus. Analysis of breakpoint junctions implicates breaks followed by repair through non-homologous end joining (NHEJ) or stalled fork repair. Furthermore, mutation of required NHEJ factor DNA Ligase 4 results in enhanced haploid recovery. Lastly, heritability and stability of a rearranged chromosome suggest a potential for enduring genomic novelty. These findings provide a tractable, natural system towards investigating the causes and mechanisms of complex genomic rearrangements similar to those associated with several human disorders.

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Proceedings of the National Academy of Sciences

TL;DR: It is shown that the full set of hydromagnetic equations admit five more integrals, besides the energy integral, if dissipative processes are absent, which made it possible to formulate a variational principle for the force-free magnetic fields.
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Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencing

TL;DR: Analysis of whole-genome sequencing data across 2,658 tumors spanning 38 cancer types shows that chromothripsis is pervasive, with a frequency of more than 50% in several cancer types, contributing to oncogene amplification, gene inactivation and cancer genome evolution.
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Mechanisms generating cancer genome complexity from a single cell division error

TL;DR: This work recreated essential steps of the BFB cycle in a defined system, enabling mechanistic studies and determination of the immediate and long-term genomic consequences of bridge formation, suggesting a unifying model for how cancer-associated defects in nuclear architecture is handled.
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Selective Y centromere inactivation triggers chromosome shattering in micronuclei and repair by non-homologous end joining

TL;DR: An inducible Y centromere-selective inactivation strategy is developed by exploiting a CENP-A/histone H3 chimaera to directly examine the fate of missegregated chromosomes in otherwise diploid human cells, and initial errors in cell division can provoke further genomic instability through fragmentation of micronuclear DNAs coupled to NHEJ-mediated reassembly in the subsequent interphase.
References
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Journal ArticleDOI

Fast and accurate short read alignment with Burrows–Wheeler transform

TL;DR: Burrows-Wheeler Alignment tool (BWA) is implemented, a new read alignment package that is based on backward search with Burrows–Wheeler Transform (BWT), to efficiently align short sequencing reads against a large reference sequence such as the human genome, allowing mismatches and gaps.
Journal ArticleDOI

The significance of responses of the genome to challenge

TL;DR: An attempt is made to outline several experiments conducted by the author that revealed how a genome may react to conditions for which it is unprepared, but to which it responds in a discernible, but initially unforeseen manner.
Journal ArticleDOI

The Arabidopsis Information Resource (TAIR): improved gene annotation and new tools

TL;DR: Recent developments include several new genome releases, progress on functional annotation of the genome and the release of several new tools including Textpresso for Arabidopsis which provides the capability to carry out full text searches on a large body of research literature.
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