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全基因组比较揭示了木薯地方品种中的大型结构变异。

Genome-wide comparison reveals large structural variants in cassava landraces.

作者信息

Landi Michael, Carluccio Anna Vittoria, Shah Trushar, Niazi Adnan, Stavolone Livia, Falquet Laurent, Gisel Andreas, Bongcam-Rudloff Erik

机构信息

Department of Animal Biosciences, Bioinformatics Section, Swedish University of Agricultural Sciences, Uppsala, Sweden.

International Institute of Tropical Agriculture, Nairobi, Kenya.

出版信息

BMC Genomics. 2025 Apr 10;26(1):362. doi: 10.1186/s12864-025-11523-y.

Abstract

BACKGROUND

Structural variants (SVs) are critical for plant genomic diversity and phenotypic variation. This study investigates a large, 9.7 Mbp highly repetitive segment on chromosome 12 of TMEB117, a region not previously characterized in cassava (Manihot esculenta Crantz). We aim to explore its presence and variability across multiple cassava landraces, providing insights into its genomic significance and potential implications.

RESULTS

We validated the presence of the 9.7 Mbp segment in the TMEB117 genome, distinguishing it from other published cassava genome assemblies. By mapping short-read sequencing data from 16 cassava landraces to TMEB117 chromosome 12, we observed variability in read mapping, suggesting that while all genotypes contain the insertion region, some exhibit missing segments or sequence differences. Further analysis revealed two unique genes associated with deacetylase activity, HDA14 and SRT2, within the insertion. Additionally, the MUDR-Mutator transposable element was significantly overrepresented in this region.

CONCLUSIONS

This study uncovers a large structural variant in the TMEB117 cassava genome, highlighting its variability among different genotypes. The enrichment of HDA14 and SRT2 genes and the MUDR-Mutator elements within the insertion suggests potential functional significance, though further research is needed to explore this. These findings provide important insights into the role of structural variations in shaping cassava genomic diversity.

摘要

背景

结构变异(SVs)对植物基因组多样性和表型变异至关重要。本研究调查了木薯品种TMEB117第12号染色体上一个970万碱基对的高度重复大片段,该区域此前在木薯(Manihot esculenta Crantz)中未被表征。我们旨在探究其在多个木薯地方品种中的存在情况和变异性,以深入了解其基因组意义和潜在影响。

结果

我们验证了TMEB117基因组中970万碱基对片段的存在,将其与其他已发表的木薯基因组组装区分开来。通过将16个木薯地方品种的短读长测序数据映射到TMEB117的第12号染色体上,我们观察到读段映射存在变异性,这表明虽然所有基因型都包含插入区域,但有些表现出片段缺失或序列差异。进一步分析揭示了插入区域内两个与脱乙酰酶活性相关的独特基因,即HDA14和SRT2。此外,MUDR - Mutator转座元件在该区域显著富集。

结论

本研究揭示了TMEB117木薯基因组中的一个大的结构变异,突出了其在不同基因型间的变异性。插入区域内HDA14和SRT2基因以及MUDR - Mutator元件的富集表明其可能具有功能意义,不过还需要进一步研究来探索这一点。这些发现为结构变异在塑造木薯基因组多样性中的作用提供了重要见解。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7d4e/11987339/0e6b53f484fd/12864_2025_11523_Fig1_HTML.jpg

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