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DNA transposon

DNA transposons, also known as class II transposable elements, are mobile segments of DNA capable of relocating within a genome through a non-replicative "cut-and-paste" mechanism that does not involve RNA intermediates.^[1] This process is catalyzed by transposase enzymes, which recognize specific terminal inverted repeats (TIRs) flanking the transposon, excise the element from its original site, and integrate it into a new genomic location, often generating short target site duplications (TSDs) upon insertion.^[2] Unlike retrotransposons, DNA transposons typically move as double-stranded DNA and are widespread across bacteria, eukaryotes, and archaea, contributing to genetic diversity by facilitating insertions, deletions, and rearrangements.^[3] Structurally, autonomous DNA transposons encode their own transposase within the element, while non-autonomous variants lack a functional transposase gene and rely on enzymes provided by autonomous copies.^[1] Transposases generally belong to superfamilies defined by their catalytic domains, such as the DDE motif in RNase H-like transposases (e.g., Tn5 and mariner elements) or alternative motifs like HUH, serine, and tyrosine in specialized families.^[2] These elements vary in size from under 1 kb for insertion sequences (IS elements) to over 10 kb for composite transposons, and they constitute a significant portion of many genomes, for example, approximately 3% in humans.^[1] Beyond their mechanistic roles, DNA transposons drive evolutionary innovation by promoting horizontal gene transfer, gene duplication, and the emergence of new functions, including contributions to adaptive immunity systems like CRISPR-Cas and V(D)J recombination.^[3] They can also cause deleterious effects, such as insertional mutagenesis leading to various human diseases.^[3] In applied contexts, engineered DNA transposons like Sleeping Beauty and piggyBac serve as versatile tools for transgenesis, insertional mutagenesis, and gene therapy, enabling efficient delivery of large transgenes (up to 150 kb) with low immunogenicity.^[1]

Overview

Definition and Characteristics

DNA transposons, classified as Class II transposable elements, are segments of DNA capable of moving within a genome through a direct DNA intermediate, primarily via a non-replicative cut-and-paste mechanism that excises the element from one site and reintegrates it into another.00517-X)^[4] This process contrasts with RNA-mediated transposition and allows for precise relocation without copying the element, though some subclasses like Helitrons employ replicative strategies.01193-9) These elements are ubiquitous across the genomes of bacteria, eukaryotes, and archaea, contributing to genetic diversity, evolution, and sometimes disease when insertions disrupt genes. In the human genome, DNA transposons account for approximately 3% of the total sequence, reflecting their relative quiescence in mammals compared to other organisms.^[4] However, they constitute higher proportions in plant genomes; for instance, in maize (Zea mays), DNA transposons comprise about 10-13% of the genome, amid a broader landscape where transposable elements overall can exceed 80%. In prokaryotes, such as bacteria, DNA transposons like insertion sequences (IS elements) are common and can constitute a notable fraction of the genome.^[5]^[6] This variability underscores their role in genome expansion and adaptation, particularly in plants where active transposition has driven significant evolutionary changes.^[7] Key characteristics of DNA transposons include their demarcation by terminal inverted repeats (TIRs), short sequences typically ranging from 10 to 500 base pairs in length that flank the element and serve as recognition sites for the transposition machinery.^[8]^[9] They encode a transposase enzyme, a DNA-binding protein that catalyzes excision and integration, enabling mobility.00377-0) Elements are categorized as autonomous if they carry a functional transposase gene, allowing independent transposition, or non-autonomous if they lack this coding capacity and depend on transposase supplied by autonomous counterparts.^[8] Unlike Class I retrotransposons, DNA transposons transpose without an RNA intermediate or reverse transcriptase, relying solely on host DNA repair pathways for reintegration.00517-X) The discovery of DNA transposons traces back to the work of Barbara McClintock in the 1940s and 1950s, who observed their activity in maize kernels and described them as "controlling elements" that could regulate gene expression through relocation.^[10] Her cytogenetic studies revealed how these elements could insert near genes, altering pigmentation patterns and providing the first evidence of mobile genetic components in eukaryotes.^[11] This foundational insight, later confirmed molecularly in the 1980s, distinguished DNA transposons from stable genomic DNA and highlighted their direct movement without reverse transcription.^[12]

Comparison with Retrotransposons

Retrotransposons, also known as Class I transposable elements, mobilize within the genome through a replicative "copy-and-paste" mechanism that involves transcription into RNA, reverse transcription back to DNA, and integration at a new site via enzymes such as reverse transcriptase and integrase.^[13] This process, which parallels that of retroviruses, inherently increases the copy number of these elements without excising the original, leading to their proliferation across generations.^[14] In contrast, DNA transposons (Class II) typically operate via a non-replicative "cut-and-paste" mechanism, where the transposase enzyme excises the DNA segment from its donor site and inserts it elsewhere, often resulting in a net loss of copies unless the excision occurs during host cell replication.^[13] Structurally, DNA transposons are typically delimited by terminal inverted repeats (TIRs) that serve as binding sites for transposase, enabling recognition and catalysis of transposition, and they generally span 1-5 kb in length, encoding primarily the transposase gene with minimal accessory elements.^[14] Retrotransposons, however, often feature long terminal repeats (LTRs) at both ends in their LTR subtype, or lack them in non-LTR forms like LINEs and SINEs, and can be larger, up to 10 kb or more, incorporating genes for reverse transcriptase, integrase, and sometimes protease.^[13] These differences in mobility and architecture underscore the distinct parasitic strategies: DNA transposons rely on direct DNA manipulation for mobility, while retrotransposons hijack the host's RNA processing and reverse transcription machinery.^[15] In terms of genomic prevalence, retrotransposons vastly outnumber DNA transposons in mammalian genomes, constituting about 42% of the human genome—primarily through LINEs (~17%), SINEs (~13%), and LTR elements (~8%)—compared to just 3% for DNA transposons, most of which have been inactive for millions of years.^[16] DNA transposons, though less abundant in vertebrates, demonstrate greater recent activity and diversity in invertebrate lineages such as insects, where they can comprise a substantial portion of the genome and drive rapid evolutionary changes, as seen in diverse superfamilies within Drosophila and ants.^[17] This disparity reflects differing host suppression mechanisms, with mammals exerting stronger silencing on DNA elements.^[18] From an evolutionary perspective, the precise excision capability of DNA transposons enables reversible insertions that are valuable for gene tagging and functional genomics, as demonstrated by the autonomous Ac and non-autonomous Ds elements in maize, which have informed studies of gene regulation since their discovery.^[14] Conversely, the replicative insertions of retrotransposons foster genome expansions, insertional polymorphisms, and regulatory network rewiring, contributing to speciation, adaptation, and disease susceptibility through mechanisms like exon shuffling and enhancer creation in humans.^[16] These contrasting dynamics highlight how DNA transposons promote targeted mobility for host benefit in select contexts, while retrotransposons exert broader, often disruptive influences on genome architecture and evolution.^[13]

Molecular Structure

Terminal Inverted Repeats

Terminal inverted repeats (TIRs) are short, complementary DNA sequences located at the ends of most DNA transposons, serving as the structural boundaries that define the element's excision and integration sites during transposition. These sequences are typically inverted relative to each other, meaning the left end is roughly the reverse complement of the right end, and they flank the transposase gene or other internal coding regions. In prokaryotic DNA transposons, such as bacterial insertion sequences (IS elements), TIRs are generally 10 to 40 base pairs (bp) in length, providing compact recognition motifs essential for mobility.^[19]/Unit_II%3A_Replication_Maintenance_and_Alteration_of_the_Genetic_Material/9._Transposition_of_DNA/9.6%3A_Classes_of_Transposable_Elements) In eukaryotic DNA transposons, TIR lengths vary more widely across superfamilies; for instance, hAT family elements often feature TIRs of 5 to 27 bp, while some Tc1/mariner elements can have TIRs ranging from 17 to over 100 bp.^[20]^[1] The primary function of TIRs is to act as specific binding sites for the transposase enzyme, which recognizes these sequences to initiate the cut-and-paste transposition process. Upon binding, transposase molecules assemble on the TIRs, synapsing the transposon ends and facilitating the formation of transient hairpin loops at the termini during the excision step, which exposes the staggered cuts necessary for element release from the donor site. Adjacent subterminal regions within or near the TIRs often contain promoter-like motifs, such as AT-rich sequences or binding elements for host transcription factors, which can influence transposase expression and overall transposition rates.^[21]^[22]44544-2) Variations in TIR structure exist across DNA transposon families, with length and sequence conservation correlating with transposition efficiency; longer or more perfectly inverted TIRs generally enhance binding affinity and catalytic activity, as demonstrated by engineering studies showing reduced mobility with shortened or mismatched ends. Some elements deviate from the classic inverted repeat architecture; for example, Crypton transposons lack true TIRs and instead possess short direct repeats (4-6 bp) at both termini, relying on a tyrosine recombinase for mobility rather than a DDE transposase. Imperfect inversions or asymmetric TIRs can also occur in certain families, potentially adapting to host-specific constraints without abolishing function.^[23]^[24] TIRs are typically detected through computational sequence analysis, where palindromic or inverted repeat motifs are identified flanking predicted transposase genes using algorithms that scan for sequence complementarity and target site duplications. Tools like those in the RepeatMasker library or custom bioinformatics pipelines exploit these signatures to annotate transposon boundaries in genomic assemblies, often confirmed by functional assays such as in vitro excision tests.^[1]^[19]

Transposase and Accessory Genes

The transposase is the core enzyme encoded by DNA transposons that catalyzes the transposition process. It typically features a DDE transposase domain characterized by an aspartate-aspartate-glutamate (DDE) catalytic triad, which coordinates magnesium ions to facilitate phosphodiester bond hydrolysis and formation during DNA cleavage and joining. This domain enables the transposase to bind to terminal inverted repeats (TIRs), excise the transposon from donor DNA through double-strand breaks at flanking sites, and integrate it into target DNA via staggered cuts that generate short duplications.^[25]^[26] In certain DNA transposon families, accessory genes encode additional proteins that support or regulate transposition and replication. For instance, Polintons (also known as Maverick elements) are large autonomous transposons that include genes for a family B DNA polymerase, an AAA+ ATPase involved in packaging or unwinding, a retrovirus-like integrase, a cysteine protease, and even a major capsid protein, suggesting a complex self-synthesizing mechanism potentially linked to viral origins. These accessory proteins enhance the element's mobility and autonomy, distinguishing Polintons from simpler DDE transposons that rely primarily on the transposase.^[27]^[26] Autonomous DNA transposons encode a complete functional transposase, enabling independent mobility, whereas non-autonomous elements lack this gene due to deletions or mutations but retain TIRs for recognition by transposase supplied in trans from autonomous copies. Mutations in transposase or accessory genes often render elements defective, leading to their immobilization and accumulation as fossilized remnants in host genomes, where they contribute to sequence diversity without further transposition.^[26]^[28]

Transposition Mechanisms

Cut-and-Paste Mechanism

The cut-and-paste mechanism, also known as non-replicative transposition, is the predominant mode of mobility for most DNA transposons, particularly those with terminal inverted repeats (TIRs). In this process, the transposon is excised from its original genomic location and inserted into a new site without generating an additional copy, relying on the transposase enzyme to catalyze the precise cleavage and joining reactions. This mechanism contrasts with replicative transposition by leaving a double-strand break (DSB) at the donor site, which must be repaired by the host cell's machinery to prevent genomic instability.^[29]^[13] The process begins with the transposase binding to the TIRs at both ends of the transposon, forming a synaptic complex that brings the ends together. This synapsis is often facilitated by dimeric or higher-order assemblies of transposase, as observed in systems like Tn5 and the Mos1 element of the Tc1/mariner superfamily. Cleavage then occurs in a two-step manner: the transposase first nicks the DNA strands flanking the transposon, exposing 3'-OH groups, followed by a transesterification reaction where these groups attack the opposite strands, forming a hairpin intermediate on the flanking DNA. This results in the complete excision of the transposon as a linear double-stranded DNA molecule, leaving a DSB at the donor site with short overhangs.^[29]^[30]^[31] Integration at the target site involves the excised transposon ends attacking a new location, typically a TA dinucleotide sequence preferred by many TIR transposons, through staggered cuts that generate 2-base pair overhangs. The transposase mediates strand transfer, joining the transposon to the target DNA and creating a target site duplication (TSD) upon host-mediated gap repair. This repair fills the gaps between the inserted transposon and the staggered target ends, often resulting in short direct repeats flanking the new insertion. The donor site DSB is repaired by host non-homologous end joining (NHEJ) or other pathways, which can be error-prone and leave "footprints"—small sequence alterations or duplications, such as 8-bp remnants in some cases like P elements—marking the prior transposon location.^[29]^[32]^[31] The non-replicative nature ensures no net increase in transposon copy number per transposition event, though amplification can occur indirectly during host DNA replication if the event precedes S phase. Efficiency is modulated by host factors, including DNA-bending proteins like integration host factor (IHF) or HMGB1, which aid in synapsis and assembly of the transposase complex, as well as DNA repair proteins that influence excision fidelity and integration success. In some systems, such as type I CRISPR-associated transposons (CASTs), exhibit high efficiency and specificity with minimal off-target effects due to guide RNA targeting, but in autonomous eukaryotic transposons, rates vary and can be limited by transposase concentration or inhibitory host factors. Error-prone repair at the donor site contributes to genomic heterogeneity, potentially leading to mutations if not accurately resolved.^[29]^[33] This mechanism is highly prevalent among TIR transposons, especially the widespread Tc1/mariner superfamily, which employs it across diverse eukaryotes from nematodes to humans, enabling rapid mobilization and contributing to genetic diversity. Seminal studies on Tc1/mariner elements have established this as the canonical cut-and-paste pathway, with its conservation underscoring a shared evolutionary origin for eukaryotic transposases.^[13]^[34]

Helitron Rolling-Circle Replication

Helitrons represent a distinct class of DNA transposons discovered in 2001 through computational analysis of eukaryotic genomes, including those of the plant Arabidopsis thaliana and the animal Caenorhabditis elegans, where they constitute approximately 2% of the genome in each case.^[35] Unlike typical DNA transposons that rely on terminal inverted repeats (TIRs) for mobilization, Helitrons lack TIRs and instead feature conserved 5' terminal motifs, such as TC, and 3' motifs like CTRR (where R is a purine), often accompanied by a small stem-loop hairpin structure 10-20 base pairs upstream of the 3' end that serves as a replication terminator.^[35]^[36] These elements are hypothesized to transpose via a rolling-circle replication mechanism, which allows for replicative amplification without excising the donor copy from its original genomic location, in contrast to the cut-and-paste transposition of other DNA transposons.^[35] Autonomous Helitrons encode a bifunctional protein known as RepHelitase, a fusion of a replication initiator (Rep) domain with nuclease/ligase activity and a superfamily 1B helicase domain, which together drive the transposition process.^[36] The mechanism initiates with RepHelitase recognizing and nicking the 5' TC motif of the donor Helitron, generating a free 3' hydroxyl end that primes unidirectional replication of the single-stranded DNA intermediate in a 5'-to-3' direction.^[36] The helicase domain unwinds the DNA ahead of the replication fork, allowing the element—often several kilobases long—to roll as a circular intermediate while copying adjacent host sequences, which can extend up to 15 kb and include non-coding regions or gene fragments.^[37] This rolling-circle process terminates upon reaching the 3' hairpin, after which the replicated single-stranded product integrates into a new genomic site, typically at an AT dinucleotide without generating target site duplications, thereby increasing the copy number of the element.^[35]^[36] Non-autonomous Helitrons, which lack the RepHelitase gene, are mobilized in trans by the protein from autonomous copies and share the same structural motifs but are generally shorter and more abundant due to their dependence on external machinery.^[36] This replicative strategy enables Helitrons to proliferate extensively, as evidenced in bat genomes where they account for about 6% of the Myotis lucifugus genome (approximately 110 Mb) and have captured thousands of host gene fragments.^[37] By duplicating and shuffling host sequences, including exons, introns, promoters, and retrogenes, Helitrons contribute to genomic innovation through the formation of chimeric genes and lineage-specific adaptations.^[37]

Polinton Self-Synthesis

Polintons, also known as Mavericks, represent a distinctive class of large DNA transposons that exhibit self-synthesizing capabilities, encoding the complete machinery required for their own replication and transposition. These elements typically span 15-20 kb in length and are characterized by terminal inverted repeats (TIRs) of 100-1,500 bp at their ends, which facilitate excision and reintegration into the host genome. Unlike simpler transposons, Polintons encode a suite of proteins including a protein-primed B-family DNA polymerase (pPolB), a retrovirus-like integrase (RVE-INT), and a DNA-packaging ATPase, enabling autonomous replication without reliance on host enzymes. This self-contained system allows Polintons to propagate extrachromosomally before integrating into new genomic sites, producing 5-8 bp target site duplications upon insertion. The self-synthesis mechanism of Polintons involves protein-primed replication, where the pPolB initiates DNA synthesis using a terminal protein domain, likely fused to its N-terminus, to prime the process at the TIR ends. Following excision from the host genome—mediated by the RVE-INT or a related tyrosine recombinase—the Polinton forms a double-stranded extrachromosomal intermediate that undergoes internal replication via strand displacement and processive synthesis by pPolB, which demonstrates lesion bypass capabilities for robust propagation. Transposition concludes with site-specific integration via the tyrosine recombinase, embedding the replicated element into the host DNA. This viral-like strategy distinguishes Polintons from cut-and-paste transposons, incorporating elements of plasmid and viral replication. Polintons are distributed across diverse eukaryotes, particularly protists such as those in Excavata and Chromalveolata, with notable abundance in genomes like that of Trichomonas vaginalis (comprising up to 30% of its DNA), as well as in fungi, invertebrates, and some vertebrates including humans and zebrafish. They are rare in prokaryotes but have prokaryotic relatives like casposons. These elements can evolve into Maverick/Polinton-like viruses, such as those in the Aquintoviricetes class, by acquiring capsid and protease genes for extracellular transmission. Evolutionarily, Polintons are proposed as ancestors of large double-stranded DNA viruses, including adenoviruses and nucleocytoviruses, originating from ancient bacteriophage-like entities around 1 billion years ago. In terms of activity, Polintons are generally inactive or fossilized in vertebrate genomes, with low copy numbers and no verified transposition events, but they remain transcriptionally active and potentially mobile in certain protists, such as dinoflagellates and rhizarians, where they contribute to genomic diversity.

Classification

Autonomous versus Non-Autonomous

DNA transposons are classified as autonomous or non-autonomous based on their capacity for independent mobilization. Autonomous elements encode a functional transposase enzyme—or an equivalent protein—that catalyzes their excision and reintegration into the genome, enabling self-sufficient transposition without reliance on other elements.^[38] For instance, full-length Tc1 elements from the Tc1/mariner superfamily possess an intact transposase gene flanked by terminal inverted repeats, allowing them to mobilize autonomously in organisms such as Caenorhabditis elegans.^[39] In contrast, non-autonomous DNA transposons are defective versions that lack a complete transposase gene due to internal deletions, mutations, or truncations, rendering them incapable of independent movement. These elements depend on transposase supplied in trans by co-existing autonomous copies of the same or compatible family to facilitate their transposition.^[40] An example includes short Mariner elements, which retain the terminal inverted repeats necessary for recognition by transposase but have lost coding capacity, often manifesting as miniature inverted-repeat transposable elements (MITEs) that proliferate via this parasitic mechanism.^[41] Non-autonomous elements frequently outnumber their autonomous counterparts in eukaryotic genomes, amplifying their overall prevalence and impact. In the rice genome (Oryza sativa and O. glaberrima), for example, the vast majority of recently active DNA transposons are non-autonomous, with only a small fraction—such as 3 out of approximately 4,000 polymorphic elements—containing intact transposase open reading frames.^[42] This disparity arises because non-autonomous forms are smaller and less energetically costly to replicate, leading to their rapid accumulation.^[43] The distinction has significant biological implications, as non-autonomous elements function as "passengers" that exploit autonomous machinery, thereby enhancing their spread and elevating the genome's mutagenic load without the self-regulatory constraints imposed by transposase-encoding sequences. This dynamic increases the potential for disruptive insertions, contributing to genomic instability and evolutionary change, as observed in systems where non-autonomous derivatives outcompete full-length elements during invasions.^[44]^[45]

Major Superfamilies

DNA transposons are classified into superfamilies primarily based on the evolutionary relatedness of their transposase enzymes and associated structural features, such as terminal inverted repeats (TIRs) and target site duplication (TSD) signatures.^[1] The transposase typically contains a catalytic domain with a conserved triad of acidic residues, either DDE or DDD motifs, which facilitate the cut-and-paste transposition mechanism in most cases.^[34] Superfamilies are delineated by sequence homology in these transposase cores, often below 30% identity between different groups, alongside shared TIR sequences that serve as recognition sites for the enzyme.^[46] This classification is maintained and updated in databases like Repbase, which as of 2024 lists over 25 superfamilies of DNA transposons, reflecting ongoing genomic discoveries.^[47] The majority of DNA transposon superfamilies feature TIRs and are mobilized via a cut-and-paste mechanism. The hAT superfamily is characterized by transposases with DDE motifs and TIRs of variable length, often producing TA dinucleotide TSDs; representative elements include Ac and Tol2.^[1] The Tc1/mariner superfamily, one of the most widespread, encodes DDD transposases with short TIRs and a TTAA TSD, exemplified by elements like Himar1.^[48] The Mutator (MuDR) superfamily is distinguished by its DDE transposase and longer TIRs, typically generating 9-bp TSDs.^[49] Similarly, the PiggyBac superfamily utilizes a DDD transposase with TIRs that create TTAA TSDs, as seen in elements like the namesake PiggyBac.^[47] These TIR-based superfamilies dominate eukaryotic genomes and are often autonomous, encoding functional transposases, though non-autonomous derivatives exist.^[1] In contrast, non-TIR superfamilies lack inverted repeats and employ alternative transposition strategies. Helitrons form a distinct group with rolling-circle replication, featuring a transposase with a DDE-like domain fused to a helicase motif, and they generate no TSDs upon insertion.^[48] Polintons (also known as Mavericks) are large elements encoding a DDE transposase along with additional proteins like a retroviral-like integrase, and they are associated with self-synthesizing capsid-like particles, producing variable TSDs.^[46] These non-TIR groups highlight the structural diversity within DNA transposons.^[49] Overall, more than 20 superfamilies have been identified across eukaryotes and prokaryotes, with horizontal gene transfer events contributing to their broad distribution and reduced host specificity, as evidenced by shared elements across distant taxa.^[48] Repbase continues to refine this classification through sequence curation and phylogenetic analysis, incorporating new families as genomic data expands.^[47]

Biological Impacts

Mutagenic Effects

DNA transposons exert mutagenic effects primarily through their insertion into host genomes, which can disrupt gene function by interrupting coding sequences. When a DNA transposon inserts into an exon, it often leads to frameshift mutations if the insertion length is not a multiple of three nucleotides, altering the reading frame and resulting in aberrant protein products. Alternatively, insertions can introduce premature stop codons, truncating the protein and causing loss-of-function phenotypes. These disruptions are marked by the generation of target site duplications (TSDs), short direct repeats of 2-8 base pairs flanking the insertion site, which arise from the staggered cuts made by the transposase enzyme during integration.^[1]^[50]^[51] Excision of DNA transposons via the cut-and-paste mechanism can also induce mutations if the resulting double-strand breaks are repaired imprecisely by host non-homologous end-joining pathways. This process frequently leaves "footprints" at the donor site, consisting of small insertions or deletions (indels) that scar the DNA sequence. For instance, excision of Sleeping Beauty transposons often results in a characteristic 3-base pair duplication or small indel, which can subtly alter nearby coding or regulatory regions, potentially leading to amino acid substitutions or minor frameshifts.^[52]^[53]^[54] In humans, active DNA transposons are largely inactive, limiting de novo insertions, but historical or fossil integrations have been implicated in disease. For example, a Tigger1 DNA transposon insertion in the BRCA1 gene has been associated with increased risk of breast and ovarian cancers through gene disruption. In plants, such as maize, DNA transposon insertions into pigment biosynthesis genes, like those mediated by the Ac/Ds system, cause visible phenotypes including spotted kernels due to somatic excisions restoring gene function in patches of tissue.^[55]^[56] DNA transposons contribute significantly to spontaneous mutation rates, particularly in germline cells where transposition is more active. In Drosophila melanogaster, transposable elements, including DNA transposons like P-elements, account for up to 80% of phenotypic spontaneous mutations, highlighting their role as major drivers of genetic variation and instability.^[57]^[58]

Regulatory and Evolutionary Roles

DNA transposons exert significant regulatory influence on host gene expression through their terminal inverted repeats (TIRs), which often function as cis-regulatory elements such as enhancers and promoters by providing binding sites for transcription factors. These TIRs can integrate into genomic regions near genes, modulating transcriptional activity in a tissue-specific manner; for instance, transposable element-derived sequences, including those from DNA transposons, contribute to approximately 25% of human candidate cis-regulatory elements, particularly in distal enhancer-like regions. In plants, insertions of DNA transposons near or within genes can alter expression patterns, leading to phenotypic variations like variegation in flower coloration, as seen when transposons disrupt anthocyanin biosynthesis genes in species such as Petunia and Ipomoea, resulting in spotted or sectoral pigmentation due to unstable gene silencing.^[59]^[60]^[61] Beyond regulation, DNA transposons drive evolutionary innovation by facilitating exon shuffling and gene duplication. Through alternative splicing, transposase domains from DNA transposons insert into new genomic contexts, creating host-transposase fusion genes that have independently evolved at least 94 times across tetrapod lineages, promoting the emergence of novel transcription factors with regulatory domains like Krüppel-associated box (KRAB). Helitrons, a superfamily of DNA transposons, contribute to gene duplication by capturing and mobilizing gene fragments—up to 10 per element in maize—leading to chimeric transcripts and alternative splicing that reshuffle the transcriptome, thereby generating evolutionary novelty in gene function and expression networks. Additionally, horizontal transfer of DNA transposons, such as Tc1/Mariner elements, has occurred in over 975 independent events across vertebrate genomes, introducing genetic variation that fuels adaptive evolution by spreading functional transposase genes under purifying selection.^[62]^[63]^[64] DNA transposons also shape genome architecture and dynamics, amplifying non-coding regions while enabling excisions that prune excess DNA. In polyploid genomes like bread wheat, DNA transposons such as CACTA elements account for a substantial portion of the 85% transposable element content, driving size expansion through insertions, yet their turnover via deletions and unequal crossovers maintains equilibrium and prevents unchecked growth. This balance contributes to speciation, as transposon mobilization during hybrid dysgenesis—observed in Drosophila species like D. melanogaster with P-elements—induces sterility, mutations, and genomic instability in hybrids, reinforcing reproductive barriers. Under positive selection, some DNA transposons have been domesticated; for example, the RAG1 and RAG2 genes in jawed vertebrates evolved from an ancient Transib-like transposon, adapting its endonuclease activity for immune receptor gene rearrangement while suppressing transposition through jawed-vertebrate-specific modifications like the RAG1 R848 arginine.^[65]^[66]^[67]^[68]

Examples Across Organisms

In Plants

In maize, the Ac/Ds transposon system exemplifies a key DNA transposon mechanism in plants, discovered by Barbara McClintock in the 1940s through observations of unstable mutations in kernel coloration. The autonomous Ac (Activator) element encodes a transposase enzyme that mobilizes both itself and the non-autonomous Ds (Dissociation) element, with Ds insertions often leading to chromosome breakage and mutable phenotypes such as spotted or colored kernels.^[10]^[11] This system, part of the hAT superfamily, has been instrumental in demonstrating transposon control over gene expression.^[69] Other notable examples include the En/Spm system, initially identified in maize but adapted for genetic studies in barley, where it facilitates insertional mutagenesis, and the Mutator (Mu) system in maize, characterized by high copy numbers often exceeding 50 elements per genome, enabling frequent transposition events.^[70]^[71] These systems drive phenotypic variation by disrupting gene function upon insertion, producing diverse traits observable in crop morphology and development.^[72] Transposable elements, including DNA transposons, contribute significantly to genome composition, accounting for up to 85% of the total DNA in species like maize through proliferation and accumulation over evolutionary time.^[73] Their agricultural impacts are profound, as they enable transposon tagging strategies for gene cloning and functional analysis; for instance, Ac/Ds and Mu insertions have tagged thousands of maize genes, accelerating the identification of agronomically important loci.^[74]^[75] DNA transposons exhibit high activity in plant genomes, attributed to relatively less stringent epigenetic silencing mechanisms compared to those in animals, allowing sustained mobility and mutagenesis in somatic and germline cells.^[76] This activity underpins their role in generating genetic diversity essential for crop breeding and adaptation.

In Animals

In animals, DNA transposons play significant roles in genetic studies, particularly in model organisms like insects, nematodes, and vertebrates, where they facilitate developmental research and biotechnological applications. One prominent example is the P element in Drosophila melanogaster, an autonomous DNA transposon that encodes a functional transposase, enabling it to excise and reintegrate into the genome. When a female lacking P elements (M strain) mates with a male carrying them (P strain), the offspring exhibit hybrid dysgenesis, characterized by gonadal sterility, mutations, and chromosomal aberrations due to uncontrolled transposition during germline development. This phenomenon arises from the absence of repressive factors in the M strain cytoplasm, allowing transposase to mobilize P elements excessively. P elements have been instrumental in insertional mutagenesis, where targeted insertions disrupt genes to reveal phenotypes, and in transgenesis, enabling the stable introduction of reporter genes or transgenes into the fly genome for functional studies. Non-autonomous P elements, which lack the transposase gene but rely on it from autonomous copies, contribute to these applications by serving as mobile vectors. The PiggyBac transposon, originally identified in the cabbage looper moth (Trichoplusia ni), demonstrates a broad host range, efficiently transposing in diverse animal systems including insects and mammals. Its "cut-and-paste" mechanism involves precise excision at TTAA target sites, minimizing footprint mutations upon removal, which enhances its utility in genetic engineering. In mammalian cells, PiggyBac has been widely adopted for gene therapy, particularly in stable integration of therapeutic transgenes into T cells or stem cells for immunotherapy, owing to its high transposition efficiency and low immunogenicity compared to viral vectors. This reduced immune response stems from the absence of viral proteins, making PiggyBac suitable for clinical applications like CAR-T cell therapies without eliciting strong host rejection. Members of the Tc1/mariner superfamily are prevalent in nematodes and fish, exemplifying the superfamily's conservation across animal phyla. In the nematode Caenorhabditis elegans, the Tc1 transposon actively mobilizes in the germline, contributing to genetic variability and serving as a model for studying transposition regulation. Similar Tc1-like elements occur in fish genomes, such as salmonids, where they have integrated into host genes over evolutionary time. The Himar1 transposon, derived from the horn fly (Haematobia irritans) and engineered for hyperactivity through mutations in its transposase, exhibits robust activity in human cells, enabling precise gene insertions for genome engineering and functional genomics. This variant's ability to transpose in vertebrate systems has made it a valuable tool for creating transgenic models in fish and mammals. These transposons have profoundly impacted laboratory tools in animal research, most notably through the Sleeping Beauty system, a synthetic Tc1/mariner transposon reconstructed from inactive salmonid fish elements by correcting inactivating mutations in the transposase gene. This revival restored cut-and-paste transposition in human and other vertebrate cells, facilitating non-viral gene delivery for transgenesis, mutagenesis screens, and preclinical gene therapy trials. The system's efficiency in integrating large payloads with minimal genotoxicity has positioned it as a cornerstone for developmental biology and regenerative medicine in animal models.

In Prokaryotes

DNA transposons in prokaryotes, primarily found in bacteria and archaea, are dominated by insertion sequences (IS elements), which are small, autonomous elements typically ranging from 0.7 to 2.5 kb in length. These elements encode a transposase enzyme that facilitates their mobilization via cut-and-paste or copy-and-paste mechanisms, generating short direct repeats (6–14 bp) at the insertion site. Prominent examples include IS1 (~768 bp) and IS10 (~1.3 kb), both prevalent in Escherichia coli, where they exist in multiple copies and contribute to genomic rearrangements such as deletions and inversions.^[77] IS elements often flank larger structures known as composite transposons, which incorporate passenger genes between two copies of the same or related IS. For instance, Tn10 is a composite transposon bounded by two IS10 elements and carries a tetracycline resistance gene (tetA), enabling its mobilization and dissemination of antibiotic resistance in bacterial populations. These elements transpose through a non-replicative cut-and-paste process involving transposase-mediated cleavage and hairpin formation, allowing the entire unit—including the resistance gene—to integrate into new genomic locations. This mechanism has been instrumental in the rapid evolution of multidrug-resistant strains in clinical and environmental settings.^[78]^[77] IS elements and composite transposons are highly prevalent, often comprising approximately 2–5% of bacterial genomes and enabling rapid adaptation through gene capture and mobilization of adaptive traits like antibiotic resistance. In many species, multiple IS copies (10–50 or more) drive genome plasticity, promoting the assembly of beneficial gene cassettes under selective pressure. Unlike eukaryotic DNA transposons, prokaryotic versions feature shorter terminal inverted repeats (typically 10–40 bp), exhibit higher transposition frequencies (e.g., 10⁻⁵ to 10⁻³ per generation for IS10), and face less stringent regulatory control, reflecting the compact and dynamic nature of prokaryotic genomes.^[77]^[79] In archaea, IS elements such as those in the IS200/IS605 superfamily contribute to similar transposition dynamics and genome plasticity. Homologs of the eukaryotic Tc1/mariner superfamily, such as members of the IS630 family, are also present in prokaryotes and contribute to similar cut-and-paste transposition dynamics.^[80]

Inactivation Mechanisms

Genetic Mutations

DNA transposons become immobile through various genetic mutations that disrupt essential components required for transposition. Deletions or the insertion of premature stop codons within the transposase gene abolish the production of a functional enzyme, resulting in non-autonomous elements that rely on transposase from autonomous copies or completely dead elements incapable of any mobility.^[1] Mutations in the terminal inverted repeats (TIRs), such as base substitutions or indels that alter the recognition sites, prevent transposase binding and subsequent excision or integration, further immobilizing the element.^[1] These inactivating mutations accumulate gradually over generations via random genetic drift and selection pressures, fossilizing nearly all DNA transposons in host genomes. In humans, for example, the over 380,000 copies of DNA transposons comprising about 3% of the genome have remained inactive for at least 40 million years due to such progressive sequence alterations.^[81]^[82] Detection of these genetically inactivated elements relies on comparative genomics, where significant sequence divergence from the consensus sequence of active transposons signals the presence of debilitating mutations, marking them as genomic fossils that no longer contribute to transposition dynamics.^[1] Reversion of inactivity is exceedingly rare in natural populations but has been achieved in laboratory settings through targeted correction of mutations; for instance, the Sleeping Beauty transposon system was reconstructed from multiple inactive fish-derived copies of the Tc1/mariner superfamily by eliminating inactivating mutations, restoring full transposition activity in vertebrate cells.^[83]

Epigenetic Silencing

Epigenetic silencing represents a key host defense strategy against DNA transposons, repressing their transcription and mobility through reversible modifications to chromatin structure without altering the underlying DNA sequence. Central to this process is DNA methylation, primarily at CpG sites within the terminal inverted repeats (TIRs) and promoter regions of transposons, catalyzed by de novo methyltransferases such as DNMT3A and DNMT3B. This methylation recruits methyl-binding proteins that compact chromatin, inhibiting transposase expression and excision-integration activity. Complementing this, histone modifications like trimethylation of histone H3 at lysine 9 (H3K9me3), mediated by SETDB1, promote the formation of repressive heterochromatin domains around transposon loci, further enforcing transcriptional quiescence. In germline cells, PIWI-interacting RNAs (piRNAs) guide PIWI clade proteins to nascent transposon transcripts, initiating both post-transcriptional degradation and recruitment of DNA methyltransferases and histone methyltransferases for heritable silencing via transcriptional gene silencing (TGS).^[84]^[85] Organism-specific variations in these mechanisms highlight differential reliance on epigenetic controls. In mammals, silencing is particularly stringent, driven by KRAB-zinc finger proteins (KRAB-ZFPs), the largest family of transcriptional repressors, which bind transposon sequences and recruit the KAP1 (TRIM28) corepressor complex to orchestrate H3K9me3 deposition and DNA hypermethylation. This system, unique to land vertebrates, rapidly evolves to target young or invasive DNA transposons, maintaining low activity levels in somatic and germline tissues. By contrast, epigenetic silencing in plants is comparatively permissive for DNA transposons, permitting periodic bursts of activity that enhance genetic diversity; plants primarily employ RNA-directed DNA methylation (RdDM) pathways involving 24-nucleotide small interfering RNAs to target transposons, but this is less comprehensive against non-retroviral elements, allowing higher transposition rates in response to stress.^[85] These defenses exhibit dynamic feedback, where bursts of transposition—often triggered by developmental demethylation or environmental cues—amplify silencing signals, such as through piRNA "ping-pong" cycles that generate secondary piRNAs to consume transposon RNAs and reinforce heterochromatin. Incomplete silencing, however, can contribute to pathology; for instance, hypomethylation or loss of KRAB-ZFP function in cancer cells derepresses DNA transposons, promoting insertional mutagenesis and oncogene activation.^[84]^[85] Evolutionarily, epigenetic silencing mechanisms have co-evolved with DNA transposons in a molecular arms race, with host factors like KRAB-ZFPs undergoing gene duplication and sequence diversification to counter transposon proliferation. Intriguingly, transposons have reciprocally shaped silencing networks, as many regulatory silencers incorporate exapted transposon-derived sequences; for example, transposable elements constitute approximately 45% of the human genome, with a substantial fraction co-opted into repressive elements that fine-tune gene expression.^[85]^[86]

Evolutionary History

Origins and Horizontal Transfer

DNA transposons trace their origins to ancient prokaryotic lineages, with evidence indicating their emergence over 3 billion years ago alongside the early evolution of bacterial insertion sequences (IS elements). These mobile elements likely arose from primordial genetic mechanisms involving recombination and integration, predating the divergence of major prokaryotic phyla. The catalytic core of most DNA transposons, known as the DDE domain (aspartate-aspartate-glutamate), exhibits strong homology to the integrase domains found in prokaryotic and viral systems, suggesting a shared evolutionary ancestry where transposases co-opted ancient recombination machinery for mobility.^[87]^[88]^[89] A pivotal development in their evolution involves Polintons (also called Mavericks), large self-synthesizing DNA transposons that are considered viral ancestors. Polintons, encoding a protein-primed B-family DNA polymerase and a retroviral-like integrase, likely originated from bacteriophage-like elements transitioning to eukaryotic hosts around 1-2 billion years ago, serving as progenitors for both transposons and large double-stranded DNA viruses, though debates persist on whether they evolved from viruses or vice versa in a tangled web with virophages.^[27]^[90] This viral-transposon continuum highlights how DNA transposons bridged prokaryotic and eukaryotic genomes through intermediate forms. Horizontal transfer has been instrumental in disseminating DNA transposons across distant taxa, often via vectors such as viruses, plasmids, and ectoparasites, with transfer rates notably higher in prokaryotes due to frequent conjugation and phage-mediated exchanges. Phylogenetic analyses reveal incongruent trees for elements like the Tc1/mariner superfamily, which appear in unrelated lineages such as nematodes, insects, and vertebrates, indicating multiple interspecies jumps rather than vertical inheritance; shared inactive copies in divergent genomes further corroborate these events. Detection relies on such phylogenetic discordance and the patchy distribution of highly similar sequences defying expected divergence times. In prokaryotes, horizontal transfer facilitates rapid adaptation, while in eukaryotes, it occurs less frequently but drives bursts of activity.^[91]^[92]^[64] Major expansions of DNA transposons in eukaryotic lineages occurred approximately 500-600 million years ago, coinciding with the diversification of early metazoans during the Ediacaran-Cambrian transition, when increased genome complexity favored their proliferation. In arthropods, pronounced bursts are evident, such as the proliferation of Tc1/mariner and hAT elements in insects like Drosophila, contributing to up to 10-15% of some genomes and influencing chromosomal rearrangements. These timelines underscore how horizontal transfer amplified transposon diversity, enabling their persistence across the tree of life.^[87]^[13]^[93]

Contribution to Adaptive Immunity

The recombination-activating genes RAG1 and RAG2, essential for V(D)J recombination in jawed vertebrates, originated from a Transib-like DNA transposon approximately 500 million years ago during the emergence of adaptive immunity.^[94] These genes encode proteins that catalyze the site-specific rearrangement of variable (V), diversity (D), and joining (J) gene segments in immunoglobulin (Ig) and T-cell receptor (TCR) loci, generating diverse antigen receptors to combat pathogens.^[95] The domestication of this transposon machinery transformed a mobile genetic element into a regulated system for immune diversification, marking a pivotal evolutionary innovation in vertebrates.^[96] The RAG1 and RAG2 proteins form a complex that functionally mimics the transposase of ancestral DNA transposons, initiating double-strand breaks at recombination signal sequences (RSS) flanking the V, D, and J segments.^[97] These RSS consist of conserved heptamer and nonamer motifs separated by a 12- or 23-base-pair spacer, structures that closely resemble the terminal inverted repeats (TIRs) of Transib transposons in sequence and organization.^[98] This similarity enables the RAG complex to recognize RSS in a manner analogous to transposase binding to TIRs, excising the intervening DNA segment in a process that echoes the cut-and-paste mechanism of transposition, though repurposed for joining immune gene segments rather than genomic insertion.^[99] Evidence for this transposon origin includes strong sequence homology between the catalytic core of RAG1 and Transib transposases, as well as between RSS and Transib TIRs, supporting the hypothesis of direct descent.^[100] Functional assays have reconstructed transposition-like activity using RAG proteins or RAG-like transposases from invertebrates, demonstrating that these enzymes can excise DNA flanked by RSS/TIR-like sequences and integrate them into target sites, thereby validating the mechanistic link.^[101] Remnants of the ancestral transposon persist in the RSS, including target site duplication signals from excision events, underscoring the incomplete purging of mobile element features during co-option.^[96] This evolutionary co-option profoundly impacted adaptive immunity by enabling combinatorial diversity in B- and T-cell receptors, allowing jawed vertebrates to mount specific responses to a vast array of antigens and driving the expansion of immune repertoires over evolutionary time.^[95]

Status in Vertebrate Genomes

In the human genome, DNA transposons comprise approximately 3% of the total sequence, with over 300,000 identifiable copies distributed across more than 100 families, though the vast majority are truncated or rearranged remnants rather than intact elements.^[102]^[87] Among these, only a small fraction—estimated at fewer than 100—are full-length and potentially autonomous, but all such elements have been inactive for millions of years due to accumulated mutations in their transposase genes.^[102] The most recent bursts of DNA transposon activity in the human lineage occurred during early primate evolution, with the youngest insertions dated to approximately 37 million years ago, predating the divergence of Old World monkeys and apes.^[102] In contrast to humans, DNA transposons remain active in certain non-mammalian vertebrates, particularly ray-finned fish. For instance, the Tol2 element, an hAT superfamily transposon derived from the medaka fish (Oryzias latipes), retains full autonomous mobility and has been extensively characterized for its efficient transposition in zebrafish (Danio rerio) and other fish species.^[103] This activity underscores a pattern of progressive inactivation across vertebrate evolution: while DNA transposons proliferated actively in fish and amphibian genomes, they became extinct in placental mammals, including all eutherian lineages, likely due to host silencing mechanisms that emerged around 100 million years ago.^[104] No endogenous DNA transposons are currently transpositionally competent in mammalian genomes, distinguishing them from retrotransposons like LINE-1 elements that continue to mobilize.^[105] Fossilized DNA transposon sequences in vertebrate genomes have been co-opted as functional regulatory elements, contributing to gene expression networks during development and tissue-specific regulation. For example, ancient transposon-derived enhancers influence vertebrate limb morphogenesis and neural patterning by providing binding sites for transcription factors.^[106] However, their quiescent state belies potential risks: epigenetic deregulation in aging or cancer can lead to aberrant reactivation of transposon transcripts or fragments, promoting genomic instability through double-strand breaks or insertional mutagenesis, though such events are rarer for DNA transposons than for retroelements.^[107] As of 2025, genomic analyses confirm no active endogenous DNA transposons in humans, with ongoing surveillance of cancer genomes and aging tissues revealing only sporadic transcriptional derepression without confirmed mobility.^[105] In biotechnology, hyperactive variants of ancient DNA transposons—such as the reconstructed Sleeping Beauty system from salmonid fish elements—have been engineered for stable gene delivery in vertebrate cells, enabling applications in gene therapy and transgenesis without relying on viral vectors.

References

[1]
DNA Transposons: Nature and Applications in Genomics - PMC - NIH
DNA transposons move from one genomic location to another by a cut-and-paste mechanism. They are powerful forces of genetic change.
[2]
Mechanisms of DNA Transposition - PMC - NIH
DNA transposases use a limited repertoire of structurally and mechanistically distinct nuclease domains to catalyze the DNA strand breaking and rejoining ...
[3]
DNA on the move: mechanisms, functions and applications of ... - NIH
Transposons are mobile genetic elements that have invaded all domains of life by moving between and within their host genomes.
[4]
Transposable elements in the mammalian germline - Nature
May 5, 2010 · Class II elements are made up of DNA transposons, which are mobilized by a 'cut and paste' mechanism. These account for roughly 3% of the ...
[5]
A complete telomere-to-telomere assembly of the maize genome
Jun 15, 2023 · Genome annotation About 88.37% of the Mo17 genome was annotated as repetitive elements, including 75.52% retrotransposons and 9.78% DNA ...
[6]
Genome assembly and population genomic analysis provide ...
Feb 23, 2021 · ... the genome, including retrotransposon (69.85%) and DNA transposon (12.84%). ... transposable elements in the maize genome. Mol. Plant 12, 447–460 ...
[7]
Transposons and genome evolution in plants - PNAS
We now know that transposons and retrotransposons comprise half or more of the maize genome (41).Missing: percentage | Show results with:percentage
[8]
Transposons: The Jumping Genes - Nature
Transposable elements (TEs), also known as "jumping genes," are DNA sequences that move from one location on the genome to another.
[9]
Structural Basis for the Inverted Repeat Preferences of mariner ...
They consist of DNA sequences 1–2 kb in length, with inverted repeat (IR)2 sequences (28–200 bp) at either end (see Fig. 1A).
[10]
The Nobel Prize in Physiology or Medicine 1983 - Press release
Summary. Barbara McClintock discovered mobile genetic elements in plants more than 30 years ago. The discovery was made at a time when the genetic code and the ...
[11]
Barbara McClintock and the discovery of jumping genes - PMC - NIH
Dec 10, 2012 · Her studies of chromosome breakage in maize led her to discover a chromosome-breaking locus that could change its position within a chromosome.
[12]
Barbara McClintock and the discovery of jumping genes - PNAS
Dec 10, 2012 · We now know that transposons constitute more than 65% of our genomes and approximately 85% of the maize genome. “Transposons are astonishingly ...Missing: proportion | Show results with:proportion
[13]
Ten things you should know about transposable elements
Nov 19, 2018 · Class 2 elements, also known as DNA transposons, are mobilized via a DNA intermediate, either directly through a 'cut-and-paste' mechanism [4, 5] ...
[14]
https://www.nature.com/scitable/topicpage/transposons-the-jumping-genes-518
[15]
Transposable Elements: No More 'Junk DNA' - PMC - NIH
TEs are generally divided into two categories, DNA transposons and retrotransposons (Fig. ... and their full-length is 300 bp and 2 kb, respectively. The ...
[16]
The impact of retrotransposons on human genome evolution - PMC
TEs can be separated into two major classes: DNA transposons and retrotransposons. DNA transposons, which make up ~3% of the human genome (FIG. 1a), are ...
[17]
Transposable Elements and the Evolution of Insects - Annual Reviews
Jan 7, 2021 · Thus, TEs are emerging as essential insect symbionts that may have deleterious or beneficial consequences on their hosts, depending on context.
[18]
Diversity and evolution of the transposable element repertoire in ...
Jan 9, 2019 · Our results show similarities in TE family diversity and abundance among the investigated insect genomes, but also profound differences in TE ...
[19]
Transposons | Learn Science at Scitable
### Comparison of DNA Transposons and Retrotransposons
[20]
hAT Transposable Elements | Microbiology Spectrum - ASM Journals
hAT elements are typically less than 5 kb in length, with the sizes of their terminal inverted repeats (TIRs) varying from 5 to 27 bp with little conservation ...
[21]
Inverted Terminal Repeat - an overview | ScienceDirect Topics
Inverted terminal repeats (TIR) are homologous sequences at the ends of transposable elements, acting as binding sites for transposases during transposition.
[22]
piggyBac can bypass DNA synthesis during cut and paste ...
We demonstrate that piggyBac transposon excision occurs through the formation of transient hairpins on the transposon ends and that piggyBac target joining ...
[23]
Evolution-guided evaluation of the inverted terminal repeats of the ...
Feb 4, 2019 · The second functional component, the transposon inverted terminal repeats (ITRs), has so far not been extensively modified, mainly due to a lack ...
[24]
Crypton transposons: identification of new diverse families and ...
Oct 19, 2011 · ... terminal inverted repeats (TIRs) nor long direct repeats. Instead they have short direct repeats at both termini. These 4- or 6-bp direct ...
[25]
Structure of the TnsB transposase-DNA complex of type V-K ... - Nature
Oct 2, 2022 · The DDE catalytic domain. Transposases from several superfamilies possess a catalytic domain containing an acidic amino acid triad (DDE or DDD) ...
[26]
https://www.cell.com/current-biology/fulltext/S0960-9822(22)01193-9
[27]
Self-synthesizing DNA transposons in eukaryotes - PNAS
Mar 21, 2006 · Autonomous Polintons are typically15–20 kb long and encode up to 10 different proteins, including DNA polymerase B (POLB), retroviral-like ...
[28]
DNA transposon-based gene vehicles - scenes from an evolutionary ...
Dec 9, 2013 · DNA transposons are primitive genetic elements which have colonized living organisms from plants to bacteria and mammals.
[29]
Mechanisms of DNA Transposition | Microbiology Spectrum
The Tn5 transposase binds identical 19 bp sequences (known as Terminal Inverted Repeats ... Analysis of the N-terminal DNA binding domain of the IS30 transposase.
[30]
https://doi.org/10.1016/j.cell.2009.07.041
[31]
https://doi.org/10.1016/s1097-2765(02)00477-8
[32]
https://doi.org/10.1126/science.289.5476.77
[33]
https://doi.org/10.1038/s41586-019-1323-z
[34]
The catalytic domain of all eukaryotic cut-and-paste transposase ...
This study suggests that all eukaryotic cut-and-paste transposable element superfamilies have a common evolutionary origin and establishes a phylogenetic ...
[35]
Rolling-circle transposons in eukaryotes - PNAS
DNA transposons found so far in eukaryotic genomes have characteristic structural hallmarks, including terminal inverted repeats (TIRs) and 2- to 10-bp ...
[36]
Structure-based discovery and description of plant and animal ... - NIH
Helitrons are recently discovered eukaryotic transposons that are predicted to amplify by a rolling-circle mechanism. They are present in most plant and ...Missing: RepHelitase | Show results with:RepHelitase
[37]
Rolling-Circle Transposons Catalyze Genomic Innovation in a ... - NIH
Helitrons display features that are atypical of other eukaryotic DNA transposons. This includes the putative rolling-circle-like transposition mechanism ...
[38]
A beginner's guide to manual curation of transposable elements
Mar 30, 2022 · However, the initial annotation of autonomous families often facilitates the identification of their non autonomous relatives, e.g. autonomous ...
[39]
Phylogenetic analysis of the Tc1/mariner superfamily ... - Mobile DNA
Jun 29, 2020 · Tc1/mariner transposons are widespread DNA transposable elements (TEs) that have made important contributions to the evolution of host genomic ...
[40]
Autonomous and non-autonomous Tn3-family transposons and their ...
Feb 3, 2015 · The Tn3 family of transposons includes diverse elements that encode homologous transposases and contain conserved terminal inverted repeat sequences (IRs).
[41]
Genomic landscape and evolutionary dynamics of mariner ...
Aug 27, 2014 · Short non-autonomous copies are often found among Class II elements. The amplification of such short copies can ultimately lead to the ...
[42]
Genome-wide comparison of Asian and African rice reveals high ...
Apr 28, 2015 · Often, the non-autonomous elements, by far, outnumber their full-length counterparts and can represent a substantial amount of DNA in some ...
[43]
Molecular paleontology of transposable elements in the Drosophila ...
Autonomous DNA transposons, i.e., elements that encode transposases, usually constitute a minor fraction of DNA transposons fixed in eukaryotic genomes. The ...
[44]
Rapid emergence of non-autonomous elements may stop P-element ...
P-element invasions can stop due to the rapid emergence of non-autonomous elements, characterized by internal deletions, out-competing full-length insertions.<|control11|><|separator|>
[45]
Jump around: transposons in and out of the laboratory - PMC - NIH
Feb 24, 2020 · Transposition can be highly mutagenic, perturbing genome integrity and gene expression in a wide range of organisms. This mutagenic potential ...
[46]
New Superfamilies of Eukaryotic DNA Transposons and Their ...
Each superfamily is characterized by a superfamily-specific transposase (transposase, TPase) core, which is not similar to those from other superfamilies. The ...
[47]
[PDF] Repbase 2024 Year in review - Genetic Information Research Institute
Jan 30, 2025 · In 2024, Repbase added 10,197 entries, reaching 102,832 total, mostly transposable elements, from over 2,000 species.
[48]
Advances in transposable elements: from mechanisms to ... - Frontiers
The remobilization mechanism of DNA transposons such as SB and PB could be described as “cut-and-paste.” More precisely, a transposase enzyme recognizes and ...
[49]
Education - GIRI - Genetic Information Research Institute
Repbase contains 23 superfamilies of Class II as of December 2016. Among them, Helitron, Polinton and Crypton show distinct features from other DNA transposons.
[50]
Transposon-Mediated Linker Insertion Scanning Mutagenesis of the ...
Linker insertions generated by this method result in either in-frame amino acid insertions or premature stops, depending on the reading frame. The amino acid ...
[51]
DNA transposon Hermes inserts into DNA in nucleosome ... - PNAS
Hermes transposition mechanism. Hermes insertions have 8-bp target site duplications. Our experimental method specifically retrieves adjoining genomic DNA ...
[52]
Precise repair of mPing excision sites is facilitated by target site ...
Sep 7, 2015 · These small insertions or deletions known as “footprints” can potentially disrupt coding or regulatory sequences. In contrast, Tourist-like ...
[53]
Healing the Wounds Inflicted by Sleeping Beauty Transposition by ...
The appearance of an approximately 320 bp band is indicative of transposon excision and subsequent repair of the excision site. ... 3 bp footprints (Figure 3B).
[54]
PiggyBac Transposon-mediated Gene Transfer in Human Cells
Excision of SB transposons creates a predictable “footprint” mutation in the donor plasmid or in genomic DNA.,, This footprint mutation includes 3 bp in ...
[55]
Transposable Elements: Major Players in Shaping Genomic ... - MDPI
Generally, TEs can be distinguished in two major classes on the basis of their mechanism of transposition: active eukaryotic Class I (retrotransposons) and ...Transposable Elements: Major... · 2. Tes As Parasites Of The... · 3. Tes As Symbionts Within...
[56]
Barbara McClintock and the Discovery of Jumping Genes ... - Nature
Kernels on a maize ear show unstable phenotypes due to the interplay between a transposable element (TE) and a pigment gene.
[57]
Transposable elements in Drosophila | Mobile DNA | Full Text
Jul 3, 2020 · TEs are responsible for up to 80% of the phenotypic spontaneous mutations observed in D. melanogaster [168] and many observations suggest ...
[58]
What makes transposable elements move in the Drosophila genome?
Oct 5, 2011 · In Drosophila, TEs are responsible for approximately 80% of phenotypic spontaneous mutations (Green, 1988; Ashburner et al., 2005). In humans, ...
[59]
Regulatory transposable elements in the encyclopedia of DNA ...
Aug 31, 2024 · ... TEs function as CREs, including promoters and enhancers, regulating important biological processes (reviewed in refs. 6,7,8,9,10,11) ...
[60]
Transposable elements: multifunctional players in the plant genome
TEs have their own promoters and enhancers, allowing them to regulate gene expression and create new regulatory networks. TEs play a key role in genome ...
[61]
Transposable elements as essential elements in the control of gene ...
Aug 18, 2023 · While DNA transposons move commonly by a cut-and-paste mechanism, retrotransposons do so by a copy-and-paste fashion [7]. The transcription ...
[62]
Recurrent evolution of vertebrate transcription factors by ... - Science
Feb 19, 2021 · We provide evidence that DNA transposons promote exon shuffling by inserting transposase domains in new genomic contexts.
[63]
Gene Capture by Helitron Transposons Reshuffles the ... - NIH
... Helitrons are a major driving force in gene evolution. Analysis of the complete B73 genome sequence identified >20,000 Helitrons inserted primarily in gene ...
[64]
Horizontal transfer and evolution of transposable elements in ...
Mar 13, 2020 · In the absence of HTT, DNA transposons appear to evolve neutrally within genomes, unlike most retrotransposons, which evolve under purifying ...
[65]
Impact of transposable elements on genome structure and evolution ...
Aug 17, 2018 · TEs are subject to rapid turnover, are the main contributors of intraspecific genomic diversity, and are the main factor explaining genome size ...Missing: excisions | Show results with:excisions
[66]
Rapid DNA loss as a counterbalance to genome expansion through ...
Transposable elements, particularly LTR-retrotransposons, comprise the primary vehicle for genome size expansion in plants, while DNA removal through ...Missing: excisions | Show results with:excisions
[67]
The Role of Transposable Elements in Speciation - PMC
Transposable elements are hypothesized to promote bursts of diversification or biological and genomic differentiation between species.
[68]
Transposon Molecular Domestication and the Evolution of the RAG ...
Domestication of a transposon to give rise to the RAG1/RAG2 recombinase and V(D)J recombination was a pivotal event in the evolution of the jawed vertebrate ...
[69]
McClintock's challenge in the 21st century - PNAS
It was this event that, basically, was responsible for activations of potentially transposable elements that are carried in a silent state in the maize genome.
[70]
Molecular analysis of the En/Spm transposable element system of ...
The nucleotide sequence of the autonomous transposable element En‐1 isolated from the wx‐844::En‐1 allele has been determined. En‐1 is 8287 bp long.
[71]
Regulation of Mu element copy number in maize lines with an active ...
In the progeny of an active Mutator plant, the number of Mu elements increases on self-pollination and maintains the average parental Mu content on outcros.
[72]
Probing plant gene function and expression with transposons - PNAS
Transposons are relatively rare and are found dispersed among genes. Transcription units occupy 2.5 kb of every 4.5 kb on average. The maize genome is a ...Missing: percentage human
[73]
[PDF] Transposon Tagging Agronomically Important Loci in Maize
The high transposition rate of Mu1 makes the Mutator transposable element system an efficient tool for gene tagging and cloning (McLaughlin and Walbot 1987; ...
[74]
Versatile Transposon-Based Activation Tag Vector System for ...
We have developed an in cis-activation-tagging Ac-Ds transposon system in which a T-DNA vector carries a Dissociation (Ds) element containing 4× cauliflower ...
[75]
Transposable Elements, Epigenetics, and Genome Evolution | Science
Nov 9, 2012 · Plant Genomes Do It More. Plants have a more complex and redundant array of epigenetic silencing mechanisms than animals, making use of multiple ...What Epigenetic Mechanisms... · Plant Genomes Do It More · Evolvability And Its Agents
[76]
Bacterial insertion sequences: their genomic impact and diversity
This includes (1) the length and sequence of the short imperfect terminal inverted repeat sequences (IRs) carried by many ISs at their ends (TIRs or ITRs in ...
[77]
Transposons Tn10 and Tn5 | Microbiology Spectrum - ASM Journals
FIGURE 1 Structure of Tn10 and Tn5. (A) Tn10 is a composite transposon that encodes resistance determinants for tetracycline. The OEs and IEs of IS10-Right and ...
[78]
Everyman's Guide to Bacterial Insertion Sequences - ASM Journals
This review presents an overview of our current understanding of these transposable elements (TE), their organization and their transposition mechanism
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Mariner and the ITm Superfamily of Transposons - ASM Journals
The mariner elements belong to the ITm superfamily of cut-and-paste DNA-transposons. The acronym is derived from the IS630, Tc1, and mariner elements, which ...
[80]
Heterologous survey of 130 DNA transposons in human cells ...
Jul 11, 2024 · This study highlights the varied transposition features and evolutionary dynamics of DNA TEs and increases the TE toolbox diversity.Missing: defective | Show results with:defective
[81]
The Diversity of Class II Transposable Elements in Mammalian ...
DNA transposons make up 3% of the human genome, approximately the same percentage as genes. However, because of their inactivity, they are often ignored in ...
[82]
Article Molecular Reconstruction of Sleeping Beauty, a Tc1-like ...
Nov 14, 1997 · Revival of Sleeping Beauty, an Ancient Tc1-like Transposon from Teleost Fish. DNA-transposons, including members of the Tc1/mariner superfamily ...
[83]
Transposable Elements: Epigenetic Silencing Mechanisms or ...
Jul 18, 2023 · This review presents the main silencing mechanisms acting in vertebrates and the importance of exploiting these mechanisms for TE control to rewire gene ...
[84]
Taming transposable elements in vertebrates: from epigenetic ...
Here, we review how animals, in particular vertebrates, mitigate TE mobility and expression, alongside known examples of TE domestication.
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Genetic features and genomic targets of human KRAB-zinc finger ...
TE-derived sequences make up a readily recognizable 50% of the human genomic ... The role of KRAB-ZFPs in transposable element repression and mammalian evolution.
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DNA Transposons and the Evolution of Eukaryotic Genomes - PMC
Helitrons have no TIRs, but rather short conserved terminal motifs and autonomous copies encode a Rep/Helicase (91, 158). Mavericks, also known as Polintons, ...Missing: RepHelitase | Show results with:RepHelitase
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Structure Prediction and Analysis of DNA Transposon and LINE ...
Jan 8, 2013 · that some of the domains shared by DNA transposons and. LINEs have common origins (i.e. the DDE domain of trans- posases and retroviral ...
[88]
IS481EU Shows a New Connection between Eukaryotic and ... - MDPI
Feb 25, 2023 · It shows a new link between prokaryotic and eukaryotic TEs via the sequence similarity in their termini and transposases, as well as the TSD ...
[89]
Polintons: a hotbed of eukaryotic virus, transposon and plasmid ...
Dec 22, 2014 · Polintons (also known as Mavericks) are large DNA transposons that are widespread in the genomes of eukaryotes.
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Horizontal transmission of functionally diverse transposons ... - PNAS
We further identified elements where both autonomous and nonautonomous elements contribute concurrently to intron gain (Fig. 2A and Dataset S2). For example ...<|control11|><|separator|>
[91]
Phylogenetic analysis of the Tc1/mariner superfamily reveals ... - NIH
Jun 29, 2020 · Tc1/mariner transposons are widespread DNA transposable elements (TEs) that have made important contributions to the evolution of host genomic ...
[92]
Horizontal transfer of Buster transposons across multiple phyla and ...
Horizontal transfer events were detected across multiple phyla and classes of animals, which may have contributed to their wide distribution.
[93]
Guardian of the Genome: An Alternative RAG/Transib Co-Evolution ...
It was convincingly argued that the RAG1 and RAG2 genes originated from a single transposon. The current dogma postulates that the V(D)J recombination system ...
[94]
The origins of the RAG genes – from transposition to V(D)J ...
The recent identification of Transib transposons and the SpRag1L/SpRag2L gene pair in sea urchin has led to a revised conceptual framework regarding the ...
[95]
Discovery of an Active RAG Transposon Illuminates the Origins of V ...
Jun 30, 2016 · The RAG1 core has been suggested to derive from the widely dispersed Transib transposon family, while its N-terminal non-core region has been ...
[96]
Collaboration of RAG2 with RAG1-like proteins during the evolution ...
Apr 7, 2016 · We propose that evolution of RAG1/RAG2 began with a Transib transposon whose intrinsic recombination activity was enhanced by capture of an ...Results · Rag1 Mediates V(d)j... · Rag2 Enhances Transposition...
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RAG1 Core and V(D)J Recombination Signal Sequences Were ...
We demonstrate that recombination signal sequences (RSSs) were derived from terminal inverted repeats of an ancient Transib transposon.
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Evolution of the RAG1-RAG2 locus: both proteins came from the ...
Apr 28, 2015 · It was demonstrated previously that the 600-aa catalytic core of RAG1 evolved from the transposase of the Transib superfamily transposons.
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Functional Characterization of an Active Rag-like Transposase - PMC
We report that a Transib transposase from the insect Helicoverpa zea is active in vitro and that its breakage and joining activities mimic those of Rag, ...Missing: reconstructing | Show results with:reconstructing
[100]
The evolutionary history of human DNA transposons - NIH
1). The youngest L1 elements that suffered a DNA transposon insertion belong to the L1PA8A family, estimated to be between 42 and 50 My old (Khan et al. 2006; ...
[101]
Identification of the Tol2 transposase of the medaka fish Oryzias ...
The Tol2 element is found in the genome of the medaka fish, Oryzias latipes, and contains DNA sequences similar to those of transposons of the hAT family.
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Review Human Transposon Tectonics - ScienceDirect.com
May 11, 2012 · Although DNA transposons are not active in humans, a co-opted DNA cut and paste system is involved in recombination events that generate ...
[103]
Transposable elements as genome regulators in normal and ...
May 6, 2025 · LINE-1s are the only autonomous transposons currently active in the human genome. Class II TEs (DNA transposons) use cut-and-paste mechanism ...
[104]
Transposable element-derived sequences in vertebrate development
Jan 6, 2021 · Transposable elements (TEs) are major components of all vertebrate genomes that can cause deleterious insertions and genomic instability.
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The role of transposable elements in aging and cancer - PubMed
Apr 5, 2023 · A growing body of evidence suggests that TE dysregulation is involved in various human diseases, including age-related diseases and cancer.