Key Takeaways & Executive Findings
- •• Whole-genome duplication (WGD) is a pervasive biological phenomenon across prokaryotes, eukaryotes, and somatic tissues, with dual roles in normal development and cancer progression. • Four principal mechanisms drive WGD: cell fusion, endoreplication, mitotic slippage, and cytokinesis failure, each contributing to polyploidy under different contexts. • WGD provides genetic redundancy and adaptability in plants and microbes, but in animals, unscheduled WGD promotes chromosomal instability and oncogenesis. • Recent advances in high-throughput sequencing, multi-omics, and machine learning have revolutionized WGD detection, enabling precise ploidy analysis in cancer research.
Abstract
Whole-genome duplication (WGD) represents an evolutionarily conserved process occurring in prokaryotes, eukaryotes, and somatic mammalian tissues. While developmentally programmed WGD supports normal tissue regeneration, unscheduled WGD drives chromosomal instability and oncogenic progression in cancer. Recent studies have clarified dual roles of WGD across physiological homeostasis and disease pathogenesis. Here, we review the prevalence of WGD, the molecular mechanisms driving its major causes and its biological consequences. In addition, we highlight recent advancements in WGD detection, including both conventional cytogenetic techniques and newly developed high-throughput sequencing approaches. The integration of multi-omics and machine learning further improves ploidy analysis, particularly in cancer research. Together, these insights establish WGD as a critical regulator of development, regeneration, and disease and underscore the importance of emerging computational and sequencing tools for its precise characterization.
1. Introduction
Whole-genome duplication (WGD), which is defined as the duplication of the entire set of chromosomes within a cell, represents the largest known genetic mutation event [1]. Although WGD was initially considered a rare event, advances in technology and its widespread application have revealed WGD to be a pervasive biological phenomenon. It occurs across a broad range of organisms, tissues and pathological conditions, providing raw genetic material for evolutionary innovation and serving as a key driver of genetic diversity, species divergence, and malignant transformation [2].
In this review, we summarize the prevalence of WGD at both the organismal and cellular levels and then describe the four principal mechanisms leading to WGD (cell fusion, endoreplication, mitotic slippage, and cytokinesis failure). Following this, we discuss the biological consequences of WGD and present an overview of current technologies for detecting cellular ploidy. Given the breadth of topics covered, an exhaustive dissection of molecular mechanisms is beyond the scope of this review, and we recommend other specialized mechanistic reviews for further details [3–5].
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Yawei Song, Jiajie Yang, Shuheng Wu, Wei Wu (2026). The dual role of whole-genome duplication: biological mechanisms, functional consequences, and detection advances. Acta Biochimica et Biophysica Sinica. https://doi.org/10.3724/abbs.2025175
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Frequently Asked Questions
What is whole-genome duplication (WGD)?
Whole-genome duplication (WGD) is the duplication of an entire set of chromosomes within a cell, representing the largest known genetic mutation event. It occurs across various organisms and tissues, playing roles in evolution, development, and disease.
What are the main mechanisms that cause whole-genome duplication?
The four principal mechanisms leading to WGD are cell fusion, endoreplication, mitotic slippage, and cytokinesis failure. Each mechanism results in cells with doubled chromosome content under different physiological or pathological conditions.
How does whole-genome duplication contribute to cancer?
Unscheduled WGD can drive chromosomal instability and oncogenic progression in cancer. It provides genetic material for tumor evolution, promotes aneuploidy, and can lead to therapy resistance, making it a critical factor in cancer biology.
What are the latest methods for detecting whole-genome duplication?
Recent advancements include high-throughput sequencing approaches, multi-omics integration, and machine learning algorithms that improve ploidy analysis. These methods offer higher resolution and accuracy compared to conventional cytogenetic techniques.
Why is whole-genome duplication important in plant biology?
WGD is widespread in plants, especially in temperate and polar regions, providing genetic diversity and functional redundancy that enhance environmental adaptability and stress tolerance. For example, tetraploid Arabidopsis thaliana shows increased salt tolerance.
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