Mobile DNA最新文献

{"title":"The extraordinary satellitome diversity of freshwater crayfish: a driver of genome evolution.","authors":"Lena Bonassin, Ljudevit Luka Boštjančić, Christelle Rutz, Caterina Francesconi, Leonie Schardt, Damian Baranski, Carola Greve, Lucian Pârvulescu, Višnja Besendorfer, Jelena Mlinarec, Ivana Maguire, Kathrin Theissinger, Odile Lecompte","doi":"10.1186/s13100-026-00399-8","DOIUrl":"10.1186/s13100-026-00399-8","url":null,"abstract":"<p><p>BACKGROUND: Repetitive elements, particularly satellite DNA (satDNA), play a significant role in genome evolution and organisation. However, their diversity and evolutionary dynamics remain poorly understood in non-model organisms. Freshwater crayfish (Decapoda, Astacidea) have large genomes with a high chromosome number and are rich in satDNAs. This makes them attractive for studying the impact of satDNA on genome evolution. RESULTS: In this study, we investigated the repetitive genomic landscape of 19 species representing four freshwater crayfish families. Our analysis revealed a high proportion of repetitive DNA in all studied species, with the total repeat content ranging from 30% to 66%. The number of satDNA families was remarkably high (54–622 families per species), with minisatellites (< 100 bp) forming the largest component of the satellitome. Family-specific patterns emerged: Astacidae and Cambaroididae showed the highest satDNA proportions, while Cambaridae and Parastacidae were dominated by Class I transposable elements. Species of the family Parastacidae showed the largest number of unique satDNA clusters and were clearly separated from other families, reflecting their phylogenetic divergence and distinct biogeographic history. We identified specific satDNAs conserved across all species, among them the PlSAT3-411, pointing to their important functional roles as pericentromeric satDNA. CONCLUSION: This study provides the first comprehensive comparative analysis of satDNA in freshwater crayfish. Our results highlight the dynamic nature of repetitive DNA and underscore its importance in genome organisation and evolutionary history. </p>","PeriodicalId":18854,"journal":{"name":"Mobile DNA","volume":"17 1","pages":""},"PeriodicalIF":4.2,"publicationDate":"2026-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13130569/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147776772","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"HERV-K HML-2 transcriptional profiling and splicing pattern unveiled by direct single-molecule long-read RNA sequencing.","authors":"Mariana Polychronopoulou, Eleni Kyriakou, Filiana Sotiriadou, Magda Bletsa, Gkikas Magiorkinis","doi":"10.1186/s13100-026-00400-4","DOIUrl":"10.1186/s13100-026-00400-4","url":null,"abstract":"<p><p>BACKGROUND: The evolution of human genome has been inextricably linked to germ cell infectivity and retrotransposition activity of endogenous retroviruses (ERVs). In result, 8% of the modern human DNA is occupied by human ERVs (HERVs), which although non-infectious and replication incompetent, are transcriptionally active in several cases (such as viral infections and cancer), and are able to produce functional mRNAs, non-coding RNAs and proteins, which on one hand are utilized for cell processes and on the other hand have been reported to be implicated in various pathologies. RESULTS: We used Nanopore Direct RNA Sequencing (DRS) technology to study the transcriptome of the transcriptionally active HERV family, HERV-K HML-2 (HK2) in a teratocarcinoma cell line. We developed a unique pipeline of HK2 DRS data analysis, which along with DRS itself, enabled us to investigate the true HK2 transcriptional profile on a single-molecule basis, unveiling alternative and non-canonical splicing patterns, length variants distribution and polyadenine tail length estimation. CONCLUSIONS: We uncovered a plethora of non-annotated HK2 transcriptional isoforms and read-through transcripts that utilized HK2 splicing sites, promoters and polyadenylation signals to assemble copies of the surrounding genes. This finding supports the observation that HERVs are involved in regulation of cellular transcription. </p>","PeriodicalId":18854,"journal":{"name":"Mobile DNA","volume":" ","pages":""},"PeriodicalIF":4.2,"publicationDate":"2026-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13238051/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147776794","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Centromeric retrotransposons shape chromosomal evolution beyond pericentromeric regions.","authors":"Manuel Poretti, Terezie Mandáková, Rimjhim R Choudhury, Leo Wuetschert, Martin A Lysak, Christian Parisod","doi":"10.1186/s13100-026-00398-9","DOIUrl":"10.1186/s13100-026-00398-9","url":null,"abstract":"<p><p>BACKGROUND: Transposable elements (TEs) play a key role in shaping chromosomal evolution and are particularly abundant in regions with high sequence turnover, such as centromeres. However, the factors driving the distribution of centromeric TEs remain largely unknown. This knowledge gap limits our understanding of TE biology and their functional role within host genomes. In this study, we analyse newly assembled chromosome-scale genomes of four closely related Biscutella species. RESULTS: Despite substantial synteny, we observe considerable variability in the centromeric and flanking pericentromeric regions among species. By comparing the distribution of centromeric TEs in space and time, we identify specialized CRM elements that target active centromeres, surrounded by Athila copies. Beyond such TE dynamics shaping all chromosomes, arms bearing distal nucleolus organizer regions further show expansion of these centromeric TEs being associated with increased DNA methylation and reduced gene expression. CONCLUSIONS: Offering fresh insights into the evolutionary mechanisms shaping chromosome organization, this study highlights how the recurrent activity of centromeric TEs significantly impacts functionality and stability of adjacent chromosome regions, underscoring broader implications for understanding genome evolution. </p>","PeriodicalId":18854,"journal":{"name":"Mobile DNA","volume":" ","pages":""},"PeriodicalIF":4.2,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13169781/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147593328","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A phylogenetic estimate of canine retrotransposition rates based on genome assembly comparisons.","authors":"Matthew S Blacksmith, Anthony K Nguyen, John V Moran, Jeffrey M Kidd","doi":"10.1186/s13100-026-00397-w","DOIUrl":"10.1186/s13100-026-00397-w","url":null,"abstract":"<p><p>BACKGROUND: Due to their history of domestication and breed formation, dogs are a powerful system for studying the phenotypic impact of genetic variation. Comparison of canine genome assemblies show that retrotransposons, mobile elements that mobilize via an RNA intermediate, are a major contributor to canine genetic diversity with an eightfold and 17-fold increase of LINE-1 and SINE differences, respectively, in dogs relative to that found among humans. The frequency of dimorphic retrotransposon insertions among dogs suggests these elements have mobilized at a high rate over recent canine evolution. However, the rate at which new insertions arise has yet to be determined. RESULTS: We aligned a collection of genome assemblies derived from four breed dogs, a Dingo, and an American grey wolf to a Greenland grey wolf to identify dimorphic LINE-1 and SINEC insertions. Across our panel of seven canine assemblies, we identified and characterized 7,428 dimorphic LINE-1s and 51,572 dimorphic SINECs. Each assembly differs from the Greenland wolf genome by an average of 3,497 LINE-1s and 25,558 SINECs. Analysis of allele sharing among samples recapitulates known relationships and reveals substantial within-breed variation. Calibrating estimates using a previously estimated single nucleotide mutation rate of 4.5 × 10− 9 per base pair per generation, we estimate that new LINE-1 and SINEC and insertions have occurred at a rate of 1/184 and 1/22 births over recent canine evolution. These estimates are largely consistent across assemblies and breeds. CONCLUSIONS: Our phylogenetic estimate of SINEC retrotransposition in canines is approximately twice as large as that estimated for Alu elements in humans, while the canine LINE-1 insertion rate is within the range of human estimates. These data suggest that although SINEC has been an outsized driver of canine genome evolution, the striking levels of canine LINE-1 and SINEC dimorphism mainly reflect high levels of long-standing genetic variation. </p>","PeriodicalId":18854,"journal":{"name":"Mobile DNA","volume":" ","pages":""},"PeriodicalIF":4.2,"publicationDate":"2026-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13141329/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147486863","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Massive proliferation of retrotransposons contributes to genome size expansion in species of the Pseudocercospora genus.","authors":"Sandra-Milena González Sáyer, Ibonne A Garcia, Cristian A Traslaviña, Alex Z Zaccaron, Ioannis Stergiopoulos, Fabio A Aristizabal, Ursula Oggenfuss, Daniel Croll","doi":"10.1186/s13100-026-00396-x","DOIUrl":"10.1186/s13100-026-00396-x","url":null,"abstract":"<p><p>Genome size expansions are common among eukaryotic lineages. Enlarged genomes can be bioenergetically demanding, and active mobile elements can trigger chromosomal rearrangements and loss of gene function. What triggers genome size expansions remains largely unexplored in many biological clades, particularly within the fungal kingdom. Activation of large transposable elements (TEs), such as long-terminal repeats (LTRs), is a common contributor. Yet the mechanisms of LTR activation remain poorly understood. Here, we focus on the fungal genus Pseudocercospora and closely related species with known variation in genome size. In using an assembly-free approach, we found that TE content is highly variable among species, with species-specific retrotransposon families being the main drivers of independent genome expansions. We further focused on the two species with the most expanded genomes and reference-quality genomes, P. fijiensis and P. ulei. We found that the P. ulei genome is compartmentalized, with highly variable TE densities among chromosomal regions, and a striking reduction in pathogenicity-associated genes. Overall, our study indicates that species of Pseudocercospora originally had reduced genome sizes, and genome expansions are species-specific, driven by heterogeneous sets of TE families. We discuss what might have caused TE activation and subsequent proliferation in the genus, including stress conditions and host adaptation. Surveys of clades with highly dynamic genome sizes are crucial for the investigation of causal factors driving long-term TE dynamics.</p>","PeriodicalId":18854,"journal":{"name":"Mobile DNA","volume":" ","pages":""},"PeriodicalIF":4.2,"publicationDate":"2026-02-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13041039/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147307868","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"scTELL: a single-cell ATAC-seq tool for locus-specific transposable element identification in chromatin accessibility.","authors":"Kyeonghun Jeong, Hongseok Ha, Jinchuan Xing, Jinwook Choi, Kwangsoo Kim","doi":"10.1186/s13100-026-00395-y","DOIUrl":"10.1186/s13100-026-00395-y","url":null,"abstract":"<p><p>BACKGROUND: Transposable elements (TEs) constitute a substantial fraction of the human genome and contribute to gene regulatory programs. However, systematic analysis of TEs at the individual locus level remains technically challenging, particularly in single-cell contexts. While single-cell technologies have advanced the study of cellular heterogeneity, most analytical frameworks remain gene-centric. Existing TE-focused approaches are largely restricted to transcriptional profiling using scRNA-seq data, while analyses of single-cell chromatin accessibility have focused primarily on aggregate or family-level TE signals rather than individual loci. Consequently, no dedicated computational framework exists for quantifying chromatin accessibility at individual TE loci from scATAC-seq data, limiting investigation of locus-specific TE regulatory activity at single-cell resolution. RESULTS: scTELL (single-cell Transposable Element Locus-Level analysis) is a computational framework that quantifies TE accessibility at individual loci from scATAC-seq data using a distance-weighted scoring scheme. We applied scTELL to diverse biological systems, including healthy peripheral blood mononuclear cells (PBMCs), clear cell renal cell carcinoma (ccRCC), and breast cancer (BC). In PBMCs, scTELL identified distinct cell-type-specific TE accessibility patterns with clustering performance comparable to established gene activity scoring approaches, and validated key TE accessibility patterns using bulk ATAC-seq data from sorted immune cell populations. Motif enrichment analyses of TE-associated accessible regions revealed distinct TF motif landscapes, including family-level motif signatures, within-family locus heterogeneity across cell types, and motifs enriched in TE-associated regions relative to gene promoters. In cancer contexts, scTELL identified heterogeneity-associated TE loci and observed clinically associated accessibility patterns, including an L1PA2 locus in ccRCC associated with progression-free interval, and survival-associated TE loci in BC. CONCLUSIONS: scTELL provides a much-needed and robust tool to investigate the locus-specific regulatory landscape of TEs at single-cell resolution. Our findings demonstrate that this approach can uncover previously unrecognized cell-type-specific and disease-associated TE accessibility. The scTELL framework offers a new layer of biological insight, complementing existing single-cell analysis protocols and enabling the discovery of candidate biomarkers from a vast, understudied portion of the genome. While these associations are reproducible across datasets, prospective validation and functional studies will be required to establish clinical utility and to determine whether any locus has a causal role or therapeutic relevance. </p>","PeriodicalId":18854,"journal":{"name":"Mobile DNA","volume":" ","pages":""},"PeriodicalIF":4.2,"publicationDate":"2026-02-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13037063/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147276940","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Boundary-associated propagation of a processed pseudogene dissects pre-existing limitations of genome annotation in the T2T era.","authors":"Min-Gyu Lee","doi":"10.1186/s13100-026-00394-z","DOIUrl":"10.1186/s13100-026-00394-z","url":null,"abstract":"<p><p>BACKGROUND: Processed pseudogenes and retrogenes are defined by their RNA-mediated origin and, by virtue of this origin-based definition, are often interpreted as discrete genomic insertions. The completion of telomere-to-telomere (T2T) reference assemblies has substantially improved the resolution of segmental duplication architectures and centromeric satellite sequences that were previously inaccessible, allowing genomic structural contexts that were effectively invisible in earlier references to be directly examined. RESULTS: Using the SEPTIN14P-CICP locus family as a case study, chain-based comparative analyses showed that a genomic window spanning the SEPTIN14 3′ terminal exon and the adjacent processed pseudogene CICP12 is dispersed into multiple segmental duplication-associated units across great apes, rather than being maintained as a single orthologous locus. Genome-wide analyses further indicated that annotated CICP loci preferentially localize within segmental duplication blocks and accumulate near pericentromeric or subtelomeric regions. Despite this duplication-associated dispersion, codon-based selection analyses revealed pervasive purifying selection acting on the full-length SEPTIN14 coding sequence and its 3′ terminal exon, arguing against a model in which the terminal exon was newly formed through segmental duplication. Together, these results show that when highly conserved, strongly constrained coding regions are embedded within segmental duplication-rich regions, co-dispersed processed pseudogene copies can be interpreted as distinct from independently generated LINE-1-mediated insertions and as reflecting secondary structural propagation. CONCLUSIONS: When considered in light of origin-based definitions of processed pseudogenes and retrogenes, and specifically within duplication-rich and structurally unstable genomic regions resolved by T2T-level assemblies, these results suggest that multiple annotated loci can arise through secondary propagation of a single RNA-derived insertion. Under such contexts, incorporation of selective constraint and cross-species conservation enables more reliable distinction between source insertions and their secondarily propagated copies. This case study highlights a limitation of current annotation frameworks and demonstrates the need for more precise annotation that incorporates evolutionary and structural context in the T2T era. </p>","PeriodicalId":18854,"journal":{"name":"Mobile DNA","volume":" ","pages":""},"PeriodicalIF":4.2,"publicationDate":"2026-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13015009/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146207366","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Tracing ancient viral footprints: a comprehensive study of endogenous viral elements in Bombus species.","authors":"Lucas Barbosa de Amorim Conceição, João Pedro Nunes Santos, Lucas Yago Melo Ferreira, Gabriel Victor Pina Rodrigues, Marco Antônio Costa, Eric Roberto Guimarães Rocha Aguiar","doi":"10.1186/s13100-026-00393-0","DOIUrl":"10.1186/s13100-026-00393-0","url":null,"abstract":"<p><p>BACKGROUND: Endogenous Viral Elements (EVEs) are viral sequences integrated into the host germline and passed to offspring. Most virus types can integrate, often with the help of host retroelements, especially for non-retroviral RNA viruses. It is known that EVEs are widespread across insect species and related to an extensive range of virus taxa, many of which might share similar evolutionary origins. Bombus bees are essential pollinators that have been experiencing worldwide colony declines in recent decades. Therefore, uncovering genetic elements and pathways to better understand host–pathogen interactions is crucial in conserving biodiversity. RESULTS: Non-retroviral Integrated RNA Virus Sequences (NIRVS) were widespread in Bombus genomes, without a clear correlation between genome size and the number of EVEs. Most of the EVEs were single-copy, ranging from 111 to 3,729 bp with an average of 504 bp. Most of them share similarities with unclassified viruses and known viruses belonging to the families Partitiviridae and Virgaviridae, as well as the order Martellivirales. We observed that over 25% of the NIRVS contain conserved domains, with larger ones having a higher probability of functional annotation. Most NIRVS with conserved domains contained Polymerase-related motifs, the most represented group of domains among Bombus species. A comprehensive analysis of the NIRVS sharing pattern suggests that they are more likely to be inherited from a common ancestor than to result from integration events after speciation. Also, viral elements are widely conserved amongst species. Furthermore, we investigated transcriptional activity and the potential of the NIRVS to function as a priming agent for antiviral responses against exogenous viruses. On that note, most NIRVS in Bombus are transcriptionally active, and some share 15 nt of contiguity with exogenous bee viruses and could potentially be used as templates for piRNA production. CONCLUSIONS: The integration of non-retroviral RNA viruses into bumblebee genomes is ancient and represents a dynamic evolutionary process in which many viral elements are conserved, shared, and may be functionally active in Bombus bees. </p>","PeriodicalId":18854,"journal":{"name":"Mobile DNA","volume":" ","pages":"8"},"PeriodicalIF":4.2,"publicationDate":"2026-02-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12922265/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146125622","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Report on the seventh Japanese meeting on biological function and evolution through interactions between hosts and transposable elements.","authors":"Kenji Ichiyanagi, Yoko Ikeda, Kuniaki Saito","doi":"10.1186/s13100-025-00392-7","DOIUrl":"10.1186/s13100-025-00392-7","url":null,"abstract":"<p><p>The seventh Japanese meeting on host-transposon interactions, titled \"Biological Function and Evolution through Interactions between Hosts and Transposable Elements,\" was held on September 1st and 2nd, 2025, at the National Institute of Genetics, as well as online. This meeting was supported by the National Institute of Genetics and aimed to bring together researchers studying the diverse roles of transposable elements (TEs) in genome function and evolution, as well as host defense systems against TE mobility, TE bursts during evolution, and intron mobility in mammals, insects, land plants, fungi, and protozoa. Here, we present the highlights of these discussions.</p>","PeriodicalId":18854,"journal":{"name":"Mobile DNA","volume":"17 1","pages":"6"},"PeriodicalIF":3.1,"publicationDate":"2026-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12859917/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146093581","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Acute testicular hyperthermia leads to rapid loss of global piRNA and a concurrent increase in LINE1 activity within heat sensitive male germ cells.","authors":"Benjamin R Robinson, Jacob K Netherton, Rachel A Ogle, Sean M Burnard, Grace E Williams, Georgia M Tennant, Maytham Hussein, Heather J Lee, Tony Velkov, Mark A Baker","doi":"10.1186/s13100-025-00390-9","DOIUrl":"10.1186/s13100-025-00390-9","url":null,"abstract":"<p><p>BACKGROUND: Spermatogenesis is a highly temperature sensitive process, which occurs 2–6 °C below core body temperature. Testicular hyperthermia rapidly affects male precursor cells, including spermatocytes and round spermatids, leading to elevated DNA damage. To understand the immediate transcriptional response of these cell types, we subjected mice to testicular hyperthermia and performed whole transcriptome sequencing on round spermatids following testicular hyperthermia. RESULTS: Analysis of sequencing data revealed that 93% of differentially expressed transcripts were upregulated following heat stress, with a notable trend to upregulation of transposable elements. Further investigation revealed a > 50% global reduction in piRNA levels, which coincided with increased LINE1 transcript abundance, elevated expression of ORF1p and increased DNA damage in heat stressed spermatocytes. The loss of piRNA appears to be driven by the rapid deformation of liquid–liquid phase separated ribonucleoprotein biocondensates, as demonstrated by the chromatoid body, which serves as an epicentre for piRNA processing. This loss of piRNA can cause widespread RNA dysregulation, transposon activation, DNA damage and impair spermatogenesis. CONCLUSION: These findings suggest that testicular hyperthermia disrupts piRNA biogenesis by destabilisation of liquid–liquid phase separated ribonucleoprotein biocondensates, including the chromatoid body. As a result, many transcripts, including transposable elements, become dysregulated which leads to DNA damage and impaired sperm quality. </p>","PeriodicalId":18854,"journal":{"name":"Mobile DNA","volume":" ","pages":"7"},"PeriodicalIF":4.2,"publicationDate":"2026-01-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12918597/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146019063","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}