Centromeric retrotransposons shape chromosomal evolution beyond pericentromeric regions

Transposable elements (TEs) play a key role in shaping chromosomal evolution and are particularly abundant in regions with high sequence turnover, such as centromeres. However, the factors driving the distribution of centromeric TEs remain largely unknown. This knowledge gap limits our understanding of TE biology and their functional role within host genomes. In this study, we analyse newly assembled chromosome-scale genomes of four closely related Biscutella species. Despite substantial synteny, we observe considerable variability in the centromeric and flanking pericentromeric regions among species. By comparing the distribution of centromeric TEs in space and time, we identify specialized CRM elements that target active centromeres, surrounded by Athila copies. Beyond such TE dynamics shaping all chromosomes, arms bearing distal nucleolus organizer regions further show expansion of these centromeric TEs being associated with increased DNA methylation and reduced gene expression. Offering fresh insights into the evolutionary mechanisms shaping chromosome organization, this study highlights how the recurrent activity of centromeric TEs significantly impacts functionality and stability of adjacent chromosome regions, underscoring broader implications for understanding genome evolution.

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Publication Details

Journal
Mobile DNA
Published
2026-04-01
DOI
https://doi.org/10.1186/s13100-026-00398-9
Primary Topic
Chromosomal and Genetic Variations
Type
article
Field-Weighted Citation Impact
0.00

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article

Centromeric retrotransposons shape chromosomal evolution beyond pericentromeric regions

Rimjhim Roy Choudhury, Martin A. Lysák, Terezie Mandáková, Manuel Poretti et al.
Mobile DNA
Chromosomal and Genetic Variations
article

Centromeric retrotransposons shape chromosomal evolution beyond pericentromeric regions

Rimjhim Roy Choudhury, Martin A. Lysák, Terezie Mandáková, Manuel Poretti, Christian Parisod, Leo Wuetschert
article en

Abstract

Transposable elements (TEs) play a key role in shaping chromosomal evolution and are particularly abundant in regions with high sequence turnover, such as centromeres. However, the factors driving the distribution of centromeric TEs remain largely unknown. This knowledge gap limits our understanding of TE biology and their functional role within host genomes. In this study, we analyse newly assembled chromosome-scale genomes of four closely related Biscutella species. Despite substantial synteny, we observe considerable variability in the centromeric and flanking pericentromeric regions among species. By comparing the distribution of centromeric TEs in space and time, we identify specialized CRM elements that target active centromeres, surrounded by Athila copies. Beyond such TE dynamics shaping all chromosomes, arms bearing distal nucleolus organizer regions further show expansion of these centromeric TEs being associated with increased DNA methylation and reduced gene expression. Offering fresh insights into the evolutionary mechanisms shaping chromosome organization, this study highlights how the recurrent activity of centromeric TEs significantly impacts functionality and stability of adjacent chromosome regions, underscoring broader implications for understanding genome evolution.

Mobile DNA
Central European Institute of Technology (CZ), University of Fribourg (CH), The University of Melbourne (AU)
Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung, Grantová Agentura České Republiky
Life in Land
Openalex Percentile: Top 34%
Chromosomal and Genetic Variations
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