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Repetitive DNAs are ubiquitous in eukaryotic genomes and, in many species, comprise the bulk of the genome. Repeats include transposable elements that can self-mobilize and disperse around the genome and tandemly-repeated satellite DNAs that increase in copy number due to replication slippage and unequal crossing over. Despite their abundance, repetitive DNAs are often ignored in genomic studies due to technical challenges in identifying, assembling, and quantifying them. New technologies and methods are now allowing unprecedented power to analyze repetitive DNAs across diverse taxa. Repetitive DNAs are of particular interest because they can represent distinct modes of genome evolution. Some repetitive DNAs form essential genome structures, such as telomeres and centromeres, that are required for proper chromosome maintenance and segregation, while others form piRNA clusters that regulate transposable elements; thus, these elements are expected to evolve under purifying selection. In contrast, other repeats evolve selfishly and cause genetic conflicts with their host species that drive adaptive evolution of host defense systems. However, the majority of repeats likely accumulate in eukaryotes in the absence of selection due to mechanisms of transposition and unequal crossing over. However, even these "neutral" repeats may indirectly influence genome evolution as they reach high abundance. In this Special Issue, the contributing authors explore these questions from a range of perspectives.
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http://dx.doi.org/10.3390/genes10110896 | DOI Listing |
Heredity (Edinb)
August 2025
Department of General and Applied Biology, Institute of Biosciences/IB, UNESP-São Paulo State University, Rio Claro, Brazil.
Repetitive DNA sequences are ubiquitous in eukaryotic genomes, significantly influencing their structure, function, and evolution. They can facilitate genomic rearrangements, contributing to chromosomal and genomic diversity. Chrysomelidae (Coleoptera) beetles are known for their highly diverse karyotypes and heterochromatin distribution.
View Article and Find Full Text PDFbioRxiv
August 2025
Princess Margaret Cancer Centre, University Health Network, Toronto, Ontario, Canada.
Extrachromosomal DNAs (ecDNAs), which replicate and segregate in a non-Mendelian manner, serve as vectors for accelerated tumor evolution. By integrating chromatin accessibility, whole-genome sequencing, and Hi-C-based genome topology data from a cohort of metastatic Castration-Resistant Prostate Cancer (mCRPC) cases, we show that epigenetically activated repeat DNA, amplified in ecDNAs, drive oncogene overexpression. Specifically, we identify a subgroup of mCRPCs (20%) characterized by clusters of accessible LINE1 repeat DNA elements flanking the androgen receptor (AR) gene.
View Article and Find Full Text PDFPlant Biotechnol J
July 2025
Center for Bioinformatics, State Key Laboratory for Quality Ensurance and Sustainable Use of Dao-di Herbs, Institute of Medicinal Plant Development, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing, China.
The assembly of plant mitochondrial genomes presents unique challenges due to difficulties in isolating mitochondrial DNA (mtDNA) and plant mitochondrial genome characteristics, such as low interspecific conservation; sequence sharing among mitochondrial, nuclear and plastid DNAs; and complex structural variations. Our laboratory has sequenced and assembled a dozen plant mitochondrial genomes, testing various strategies and identifying numerous assembly issues. This review compared the advanced methods and tools for plant mitochondrial genome assembly, categorizing assembly algorithms into three groups: (1) reference-based, (2) de novo and (3) iterative mapping and extension.
View Article and Find Full Text PDFIntegr Zool
July 2025
Laboratory of Evolutionary Cytogenetics, Department of Genetics and Evolution, Federal University of São Carlos, São Carlos, São Paulo, Brazil.
A significant fraction of the genomes of most multicellular eukaryotes includes extensive arrays of tandemly repeated sequences, collectively referred to as satellite DNAs (satDNAs). However, the mechanisms responsible for generating and maintaining varying satDNA abundances across lineages and temporal scales are still unclear. This work focused on arowana fishes (Teleostei, Osteoglossiformes) as a model; their widespread intercontinental distribution and basal phylogenetic position within Teleostei make them a compelling model for evolutionary research, especially in the realm of satDNA molecular evolution.
View Article and Find Full Text PDFGenome Biol Evol
July 2025
Departamento de Biologia Geral e Aplicada, UNESP-Univ Estadual Paulista, Instituto de Biociências/IB, Rio Claro, São Paulo, Brazil.
Satellite DNAs (satDNAs), ubiquitous sequences in eukaryotic genomes, play a crucial role in genome organization, function, and evolution. The pea aphid Acyrthosiphon pisum is a major crop pest, and an emerging model for ecological, developmental, and evolutionary studies. This study characterizes the satellitome of the A.
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