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Telomere-to-telomere assemblies of 142 strains characterize the genome structural landscape in Saccharomyces cerevisiae

Authors :
O’Donnell, Samuel
Yue, Jia-Xing
Saada, Omar Abou
Agier, Nicolas
Caradec, Claudia
Cokelaer, Thomas
De Chiara, Matteo
Delmas, Stéphane
Dutreux, Fabien
Fournier, Téo
Friedrich, Anne
Kornobis, Etienne
Li, Jing
Miao, Zepu
Tattini, Lorenzo
Schacherer, Joseph
Liti, Gianni
Fischer, Gilles
Source :
Nature Genetics; 20230101, Issue: Preprints p1-10, 10p
Publication Year :
2023

Abstract

Pangenomes provide access to an accurate representation of the genetic diversity of species, both in terms of sequence polymorphisms and structural variants (SVs). Here we generated the Saccharomyces cerevisiaeReference Assembly Panel (ScRAP) comprising reference-quality genomes for 142 strains representing the species’ phylogenetic and ecological diversity. The ScRAP includes phased haplotype assemblies for several heterozygous diploid and polyploid isolates. We identified circa (ca.) 4,800 nonredundant SVs that provide a broad view of the genomic diversity, including the dynamics of telomere length and transposable elements. We uncovered frequent cases of complex aneuploidies where large chromosomes underwent large deletions and translocations. We found that SVs can impact gene expression near the breakpoints and substantially contribute to gene repertoire evolution. We also discovered that horizontally acquired regions insert at chromosome ends and can generate new telomeres. Overall, the ScRAP demonstrates the benefit of a pangenome in understanding genome evolution at population scale.

Details

Language :
English
ISSN :
10614036 and 15461718
Issue :
Preprints
Database :
Supplemental Index
Journal :
Nature Genetics
Publication Type :
Periodical
Accession number :
ejs63671252
Full Text :
https://doi.org/10.1038/s41588-023-01459-y