Abstract
Chromosomal rearrangements comprise unbalanced structural variations resulting in gain or loss of DNA copy numbers, as well as balanced events including translocation and inversion that are copy number neutral, both of which contribute to phenotypic evolution in organisms. The exquisite genetic assay and gene editing tools available for the model organism Saccharomyces cerevisiae facilitate deep exploration of the mechanisms underlying chromosomal rearrangements. We discuss here the pathways and influential factors of chromosomal rearrangements in S. cerevisiae. Several methods have been developed to generate on-demand chromosomal rearrangements and map the breakpoints of rearrangement events. Finally, we highlight the contributions of chromosomal rearrangements to drive phenotypic evolution in various S. cerevisiae strains. Given the evolutionary conservation of DNA replication and recombination in organisms, the knowledge gathered in the small genome of yeast can be extended to the genomes of higher eukaryotes.
Highlights
Chromosomal rearrangements, including deletions, duplications, translocations, inversions, and formation of extrachromosomal circular DNA, are ubiquitous in cancer genomes and multiple genetic diseases
We focus here on the work performed in the yeast Saccharomyces cerevisiae, in which the conserved DNA repair pathways and the consequences of their defect have been well explored owing to its compact genome and the powerful genetic tools established for this organism
This study demonstrated that a DNA damaging chemical can greatly stimulate mitotic recombination that leads to loss of heterozygosity (LOH) and chromosomal rearrangement in yeast [95]
Summary
Chromosomal rearrangements, including deletions, duplications, translocations, inversions, and formation of extrachromosomal circular DNA (eccDNA), are ubiquitous in cancer genomes and multiple genetic diseases. It was found that the translocation between chromosome 6 and chromosome 4, leading to the fusion of proto-oncogene 1, receptor tyrosine kinase (ROS1) to solute carrier family 34 member 2 (SLC34A2), drives lung cancer development [1], and the translocation-mediated fusion of the nucleoporin 98 kDa (NUP98). Multiple experimental systems have been developed in model organisms to decipher the rates, qualitative spectra, genetic dependencies, and phenotypic effects of chromosomal rearrangements. We focus here on the work performed in the yeast Saccharomyces cerevisiae, in which the conserved DNA repair pathways and the consequences of their defect have been well explored owing to its compact genome and the powerful genetic tools established for this organism
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