The Plant Journal · 2023 · 32 citations · 87 references
Life SciencesGeneticsPlant BiologyGenome AssemblyGenomicsPlant GeneticsDe Novo Genome AssemblyHaplotype-resolved AssemblyHybrid AssemblyRepeat Sequence AnalysisSequence AssemblyTelomere BiologyAssembly Of Repetitive GenomesGenetic PolymorphismsPlant Genome AssemblyRepeat Element AnalysisSatellite Dna AnalysisTandem Repeat AssemblyTandem Repeat VariationsTelomeric Repeats
Populus species play a foundational role in diverse ecosystems and are important renewable feedstocks for bioenergy and bioproducts. Hybrid aspen Populus tremula × P. alba INRA 717-1B4 is a widely used transformation model in tree functional genomics and biotechnology research. As an outcrossing interspecific hybrid, its genome is riddled with sequence polymorphisms which present a challenge for sequence-sensitive analyses. Here we report a telomere-to-telomere genome for this hybrid aspen with two chromosome-scale, haplotype-resolved assemblies. We performed a comprehensive analysis of the repetitive landscape and identified both tandem repeat array-based and array-less centromeres. Unexpectedly, the most abundant satellite repeats in both haplotypes lie outside of the centromeres, consist of a 147 bp monomer PtaM147, frequently span >1 megabases, and form heterochromatic knobs. PtaM147 repeats are detected exclusively in aspens (section Populus) but PtaM147-like sequences occur in LTR-retrotransposons of closely related species, suggesting their origin from the retrotransposons. The genomic resource generated for this transformation model genotype has greatly improved the design and analysis of genome editing experiments that are highly sensitive to sequence polymorphisms. The work should motivate future hypothesis-driven research to probe into the function of the abundant and aspen-specific PtaM147 satellite DNA.
87
The Sequence Alignment/Map format and SAMtools
Heng Li, Alec Wysoker, Tim Fennell et al. · Bioinformatics · 2009 · 67.5K citations · Full text
Minimap2: pairwise alignment for nucleotide sequences
Heng Li · Bioinformatics · 2018 · 16.8K citations · Full text
BUSCO: assessing genome assembly and annotation completeness with single-copy orthologs
Felipe A. Simão, Robert M. Waterhouse, Panagiotis Ioannidis et al. · Bioinformatics · 2015 · 14.5K citations · Full text
Tandem repeats finder: a program to analyze DNA sequences
Gary Benson · Nucleic Acids Research · 1999 · 9.9K citations