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The role of satellite DNA-enriched heterochromatic variants in reproductive disorders: Insights from standardized cytogenetic analysis. 卫星dna富集异色变异在生殖疾病中的作用:来自标准化细胞遗传学分析的见解。
IF 2.8 4区 生物学
Chromosome Research Pub Date : 2026-05-08 DOI: 10.1007/s10577-026-09800-x
Sílvia Pires, Isaltina França, Pedro Oliveira, Paula Jorge, Thomas Liehr, Natália Oliva-Teles
{"title":"The role of satellite DNA-enriched heterochromatic variants in reproductive disorders: Insights from standardized cytogenetic analysis.","authors":"Sílvia Pires, Isaltina França, Pedro Oliveira, Paula Jorge, Thomas Liehr, Natália Oliva-Teles","doi":"10.1007/s10577-026-09800-x","DOIUrl":"https://doi.org/10.1007/s10577-026-09800-x","url":null,"abstract":"<p><p>Non-coding DNA, long considered \"junk\", is now recognized as a central regulator of genome architecture. Highly repetitive satellite DNA sequences shape heterochromatin and are essential for chromosome stability, segregation, and gene regulation. Pericentromeric heterochromatic variants, or chromosomal heteromorphisms (CHs), have emerged as modulators of human fertility, potentially affecting gametogenesis and early embryonic development. Despite their ubiquity, the functional and clinical significance of CHs remains largely enigmatic. Molecular reference genomes fail to fully capture these repetitive domains, and cytogenetic assessment has shown critical inconsistencies due to the lack of standardized evaluation criteria. To address this gap, we proposed a comparison-based scoring system to reliably identify and characterize CHs. By applying this framework to 300 individuals with idiopathic reproductive disorders and 155 fertile controls, we observed a significantly higher CH frequency in the infertile cohort (2.4-fold increase; p < 0.001). Chromosome 9 variants were the most prevalent (5.3%; p = 0.036), with 1qh+ and 16qh+ as the most common type-specific variants. Cases of recurrent pregnancy loss exhibited the highest CH burden. These results support a significant association between CHs and adverse reproductive outcomes, suggesting that heterochromatic variants may act as predisposing factors for infertility. Importantly, the proposed scoring system addresses critical cytogenetic inconsistencies and provides a comprehensive, reproducible framework that will enhance cross-study comparability and enable future investigations into the structural, functional, evolutionary, and clinical relevance of satellite DNA-enriched heterochromatic regions.</p>","PeriodicalId":50698,"journal":{"name":"Chromosome Research","volume":"34 1","pages":""},"PeriodicalIF":2.8,"publicationDate":"2026-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147845596","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Cytogenomics of Myloplus tiete reveals conserved satellite DNAs since the Late Eocene in Serrasalmidae (Teleostei, Characiformes). Myloplus tiete的细胞基因组学揭示了晚始新世以来Serrasalmidae (Teleostei,特指)的保守卫星dna。
IF 2.8 4区 生物学
Chromosome Research Pub Date : 2026-05-08 DOI: 10.1007/s10577-026-09801-w
Francisco de Menezes Cavalcante Sassi, Giovanna Igepi, Beatriz Lopes Torgan, Caio Augusto Gomes Goes, Rodrigo Zeni Dos Santos, Maria Eduarda Gisloti-Ribeiro, Diogo Teruo Hashimoto, Fábio Porto-Foresti, Ricardo Utsunomia
{"title":"Cytogenomics of Myloplus tiete reveals conserved satellite DNAs since the Late Eocene in Serrasalmidae (Teleostei, Characiformes).","authors":"Francisco de Menezes Cavalcante Sassi, Giovanna Igepi, Beatriz Lopes Torgan, Caio Augusto Gomes Goes, Rodrigo Zeni Dos Santos, Maria Eduarda Gisloti-Ribeiro, Diogo Teruo Hashimoto, Fábio Porto-Foresti, Ricardo Utsunomia","doi":"10.1007/s10577-026-09801-w","DOIUrl":"https://doi.org/10.1007/s10577-026-09801-w","url":null,"abstract":"<p><p>The Neotropical family Serrasalmidae (pacus and piranhas) exhibits remarkable karyotype conservation, yet cytogenetic data remain limited for several genera, particularly Myloplus. Here we present the first integrative cytogenomic characterization of Myloplus tiete, an endemic and near-threatened species from the upper Paraná River basin, combining classical cytogenetics with satellitome analysis. Karyotyping of 12 specimens collected from Rio Grande, Frutal-MG, Brazil, revealed a consistent diploid number of 2n = 58 chromosomes with karyotype formula 16m + 20sm + 22a, while C-banding identified heterochromatic blocks predominantly in pericentromeric and subtelomeric regions. Genome sequencing and iterative satDNA mining identified 32 satellite DNA families, with repeat lengths ranging from 24 to 2,265 bp and a predominance of AT-rich sequences. Comparative analysis with the Colossomatinae species Colossoma macropomum and Piaractus mesopotamicus revealed 12 conserved satDNAs across ~ 40 million years of divergence, with moderate consensus turnover rates. FISH mapping of the ten most abundant satDNAs revealed diverse chromosomal distributions, including pericentromeric, subtelomeric, and dispersed patterns, highlighting the diverse genomic integration of conserved repeats. These findings provide evidence for long-term evolutionary conservation of both karyotype architecture and satDNA repertoires across Serrasalmidae subfamilies and suggest that structural or functional constraints may contribute to shaping the evolution of repetitive DNA in this ecologically and aquaculturally important fish group.</p>","PeriodicalId":50698,"journal":{"name":"Chromosome Research","volume":"34 1","pages":""},"PeriodicalIF":2.8,"publicationDate":"2026-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147845565","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Stable resynthesized Brassica napus lines show similar meiotic behaviour to established B. napus. 稳定的再合成甘蓝型油菜株系表现出与已建立的甘蓝型油菜相似的减数分裂行为。
IF 2.8 4区 生物学
Chromosome Research Pub Date : 2026-04-07 DOI: 10.1007/s10577-026-09799-1
Vinita Ramtekey, Elizabeth Ihien Katche, Mariana Baez, Zhenling Lv, Annaliese S Mason
{"title":"Stable resynthesized Brassica napus lines show similar meiotic behaviour to established B. napus.","authors":"Vinita Ramtekey, Elizabeth Ihien Katche, Mariana Baez, Zhenling Lv, Annaliese S Mason","doi":"10.1007/s10577-026-09799-1","DOIUrl":"10.1007/s10577-026-09799-1","url":null,"abstract":"<p><p>Brassica napus (rapeseed/canola) is an allotetraploid (AACC, 2n = 4x = 38) resulting from spontaneous hybridization between B. rapa (AA, 2n = 2x = 20) and B. oleracea (CC, 2n = 2x = 18). Although established B. napus is meiotically stable, resynthesized lines (2n = AACC) produced by hybridizing between progenitor species B. rapa and B. oleracea are usually meiotically unstable, and show frequent chromosomal rearrangements caused by homoeologous recombination between the A and C genomes. Previously, we identified resynthesized rapeseed lines showing contrasting levels of homoeologous recombination, as assessed by genotyping for copy number variants. Here, we aimed to characterise meiotic chromosome pairing behaviour in fifteen resynthesized lines representing putatively stable, unstable and intermediate types. Putatively stable lines showed predominantly normal meiosis (average 91% bivalent formation), while putatively unstable lines showed frequent abnormalities such as multivalent formation (average 60% bivalent formation). Univalents were unexpectedly rare in Metaphase I. A1-C1 specific probes revealed that stable lines showed approximately 18% A-C pairing (7/40 pollen mother cells), not significantly different to the 13% A-C pairing (5/40 pollen mother cells) in established B. napus, but in contrast to the unstable line with 46% A-C pairing (25/54 pollen mother cells). Surprisingly, all resynthesized lines initially classed as having intermediate stability based on copy number variation showed either stable or unstable-type meiotic behaviour, suggesting a more qualitative rather than quantitative phenotype. Our results suggest that differences in multivalent formation frequencies and homoeologous A-C pairing differentiate stable and unstable lines, confirm the production of meiotically stable synthetic B. napus, and provide a basis for further investigation of genetic factors contributing to this effect.</p>","PeriodicalId":50698,"journal":{"name":"Chromosome Research","volume":"34 1","pages":""},"PeriodicalIF":2.8,"publicationDate":"2026-04-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13056725/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147629032","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Mixed modes of satellite DNA and transposable element evolution, which shape the repetitive landscape of air-breathing catfishes (Clarias). 卫星DNA和转座因子进化的混合模式,塑造了呼吸空气的鲶鱼(Clarias)的重复景观。
IF 2.8 4区 生物学
Chromosome Research Pub Date : 2026-03-26 DOI: 10.1007/s10577-026-09797-3
Artem Lisachov, Thitipong Panthum, Worapong Singchat, Jiraboon Prasanpan, Darren Griffin, Yoichi Matsuda, Kornsorn Srikulnath
{"title":"Mixed modes of satellite DNA and transposable element evolution, which shape the repetitive landscape of air-breathing catfishes (Clarias).","authors":"Artem Lisachov, Thitipong Panthum, Worapong Singchat, Jiraboon Prasanpan, Darren Griffin, Yoichi Matsuda, Kornsorn Srikulnath","doi":"10.1007/s10577-026-09797-3","DOIUrl":"10.1007/s10577-026-09797-3","url":null,"abstract":"<p><p>Repetitive DNA is a major organization component of eukaryotic genomes; however, its evolutionary dynamics in teleosts remain insufficiently understood. Catfish of the family Clariidae provide a valuable model for studying the evolutionary process of repetitive DNA sequences, owing to their genomic diversity and complex chromosomal histories. Here, the evolutionary diversity of satellite DNA (satDNA), transposable elements (TEs), and microsatellites was investigated across multiple clariid catfish species using bioinformatic approaches that integrate genome-wide annotation of repetitive sequences with phylogenetic and chromosomal contexts. The results revealed distinct chromosome-specific patterns of satDNA evolution and demonstrated that, although certain satDNA loci in the chromosomes were conserved across species, their monomer sequences underwent substantial reshuffling over time, contrary to the expectation that the monomer sequences in homologous satDNA loci are conserved in related species. An ancient burst of TE activity was detected in the common ancestor of Clarias, followed by their recent species-specific proliferation, which is correlated with the overall TE and microsatellite abundances. Although closely related species generally exhibit similar repeatome profiles, notable deviations, such as the unique TE landscape of C. gariepinus and microsatellite distribution of C. batrachus, highlight lineage-specific evolutionary processes. These findings demonstrate the utility of Clarias catfish as a model for understanding repetitive sequence dynamics, genome plasticity, and chromosome evolution in vertebrates.</p>","PeriodicalId":50698,"journal":{"name":"Chromosome Research","volume":"34 1","pages":""},"PeriodicalIF":2.8,"publicationDate":"2026-03-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147516018","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Characterization of neocentromeric marker chromosome derived from chromosome 11: a rare entity in four patients with acute leukemia. 来自11号染色体的新着丝点标记染色体的特征:在4例急性白血病患者中罕见的实体。
IF 2.8 4区 生物学
Chromosome Research Pub Date : 2026-03-26 DOI: 10.1007/s10577-026-09798-2
Iveta Mendlikova, Jana Brezinova, Karla Svobodova, Lenka Pavlistova, Marie Valerianova, Jan Valka, Marketa Markova Stastna, Anna Jonasova, Zuzana Zemanova, Sarka Ransdorfova
{"title":"Characterization of neocentromeric marker chromosome derived from chromosome 11: a rare entity in four patients with acute leukemia.","authors":"Iveta Mendlikova, Jana Brezinova, Karla Svobodova, Lenka Pavlistova, Marie Valerianova, Jan Valka, Marketa Markova Stastna, Anna Jonasova, Zuzana Zemanova, Sarka Ransdorfova","doi":"10.1007/s10577-026-09798-2","DOIUrl":"10.1007/s10577-026-09798-2","url":null,"abstract":"<p><p>Neocentromeres are newly formed chromosomal regions that can replace the function of traditional centromeres and are well documented in human clinical studies. However, their occurrence in neoplasia, including acute leukemia, appears to be rare. We analyzed complex karyotypes in bone marrow cells from 113 patients with acute myeloid leukemia and one patient with acute lymphoblastic leukemia using centromeric/multicentromeric fluorescence in situ hybridization and identified four cases (3.5%) with derivative chromosomes exhibiting newly formed constrictions. Three of these patients had secondary leukemia following preexisting hematological disorders, suggesting a potential role for neocentromeres in disease progression. In all four cases, neocentromeres were detected on derivative chromosome 11. To our knowledge, this is the first report of neocentromeres derived from this chromosome in acute leukemia. All four patients in our study died; however, all exhibited complex karyotypes, which are independently associated with poor prognosis and an aggressive disease course. Neocentromeres are a rare but potentially important source of genomic instability in malignant diseases. Generally, the formation of a new constriction allows mitotic rescue of acentric chromosomes, preventing their loss. An increase in genomic alterations in tumor cells predicts a more aggressive disease course and adverse outcomes. Due to limited data, the prognostic significance of neocentromeres remains unclear. Further rigorous investigation is required to deepen our understanding of the mechanisms underlying neocentromere formation and their implications in cancer.</p>","PeriodicalId":50698,"journal":{"name":"Chromosome Research","volume":"34 1","pages":""},"PeriodicalIF":2.8,"publicationDate":"2026-03-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13021727/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147522758","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Decoding Cdk1 control: from mitotic thresholds to meiotic specificity. 解码Cdk1控制:从有丝分裂阈值到减数分裂特异性。
IF 2.8 4区 生物学
Chromosome Research Pub Date : 2026-03-12 DOI: 10.1007/s10577-026-09796-4
Sandra A Touati
{"title":"Decoding Cdk1 control: from mitotic thresholds to meiotic specificity.","authors":"Sandra A Touati","doi":"10.1007/s10577-026-09796-4","DOIUrl":"10.1007/s10577-026-09796-4","url":null,"abstract":"<p><p>The eukaryotic cell cycle is one of the most fundamental biological processes, ensuring the accurate duplication and segregation of the genome during mitosis. Decades of research across model systems have shown that this process is orchestrated by a family of protein kinases known as cyclin-dependent kinases (Cdks). Together with their cyclin partners, Cdks act as master regulators of cell division, coordinating DNA replication, chromosome segregation, and cytokinesis with remarkable precision. The discovery of Cdks and cyclins in yeast and sea urchins, celebrated with the Nobel Prize of Hartwell, Hunt, and Nurse (awarded in 2001), established the conceptual framework for understanding how oscillations in kinase activities drive cell cycle progression in a unidirectional and irreversible manner. Over the past thirty years, a central question has been whether cell cycle control relies primarily on the quantitative level of Cdk1 activity or whether distinct qualitative functions of cyclin-Cdk1 complexes ensure the correct ordering of events. Addressing this question required new genetic and biochemical tools capable of controlling Cdk1 activity with high temporal resolution and specificity. A turning point came in 2000 with the development of the analogue-sensitive Cdk1 allele by the Shokat laboratory. This approach replaced classical temperature-sensitive alleles with a version of Cdk1 that can be selectively inhibited by bulky ATP analogues. Beyond specific inhibition, the system was soon adapted to directly label and identify Cdk1 substrates, coupling chemical genetics with the emerging power of mass spectrometry. This review outlines the conceptual frameworks of quantitative and qualitative models of Cdk1 control. It also highlights how these ideas have been experimentally dissected, tracing the development of the Cdk1 Shokat system and advances from synthetic biology and phosphoproteomics in decoding phosphorylation logic, and how these concepts apply to meiosis. These studies draw primarily on budding yeast and fission yeast which have a single Cdk, making them convenient models for studying core principles of cell cycle regulation. Key insights from vertebrates are also integrated to illustrate principles that extend to other eukaryotes.</p>","PeriodicalId":50698,"journal":{"name":"Chromosome Research","volume":"34 1","pages":""},"PeriodicalIF":2.8,"publicationDate":"2026-03-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12982290/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147445853","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The DNA mismatch repair protein Msh4 is essential for meiosis of male but not for female in zebrafish. DNA错配修复蛋白Msh4是斑马鱼雄性减数分裂所必需的,而不是雌性减数分裂所必需的。
IF 2.8 4区 生物学
Chromosome Research Pub Date : 2026-02-26 DOI: 10.1007/s10577-026-09795-5
Yankun Guo, Yunbang Zhang, Yihui Mei, Yuwei Huang, Yuxuan Zheng, Nan Zhang, Yuxin Jiang, Hanjun Jiang, Zijie Zhang, Angxiao Li, Jinchang Fan, Katsutoshi Arai, Jian Gao, Xiaojuan Cao
{"title":"The DNA mismatch repair protein Msh4 is essential for meiosis of male but not for female in zebrafish.","authors":"Yankun Guo, Yunbang Zhang, Yihui Mei, Yuwei Huang, Yuxuan Zheng, Nan Zhang, Yuxin Jiang, Hanjun Jiang, Zijie Zhang, Angxiao Li, Jinchang Fan, Katsutoshi Arai, Jian Gao, Xiaojuan Cao","doi":"10.1007/s10577-026-09795-5","DOIUrl":"https://doi.org/10.1007/s10577-026-09795-5","url":null,"abstract":"<p><p>Meiotic recombination plays a crucial role in the correct separation of homologous chromosomes. The DNA mismatch repair protein Msh4 is a meiosis specific protein and msh4 defects were reported to associate with azoospermia and ovarian dysfunction in mammal. However, its role has not been elucidated in an important model animal, zebrafish. Here, we examined the role of Msh4 in meiosis and gametogenesis by knocking out msh4 using CRISPR/Cas9 technology. The resultant msh4<sup>-/-</sup> mutants showed male predominance (98.5%) and brought asynaptic meiosis to form unpaired univalents evidenced by the immunofluorescence detection of the synaptonemal complex protein Sycp3 and Sycp1, and the recombination protein Rad51. Such unusual meiotic configurations led to meiotic arrest and subsequent abortive spermatogenesis. In contrast, msh4 deficiency induced infrequent msh4<sup>-/-</sup> female (1.5%) that laid eggs which developed to normal (40-80%) or abnormal (20-60%) progeny by fertilizing with sperm of wild type. Thus, Msh4 is essential for the meiosis in males, but is not strictly required in females.</p>","PeriodicalId":50698,"journal":{"name":"Chromosome Research","volume":"34 1","pages":""},"PeriodicalIF":2.8,"publicationDate":"2026-02-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147291906","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Divergence and conservation of satellite DNA in the loggerhead sea turtle (Caretta caretta): a comparative cytogenomic analysis. 红海龟(Caretta Caretta)卫星DNA的分化和保存:比较细胞基因组分析。
IF 2.8 4区 生物学
Chromosome Research Pub Date : 2026-02-23 DOI: 10.1007/s10577-026-09794-6
Katerina V Tishakova, Anastasia A Proskuryakova, Dmitry Yu Prokopov, Sergey A Marchenko, Alessio Iannucci, Claudio Ciofi, Livia Tolve, Paolo Casale, Pasquale Salvemini, Natalia A Serdyukova, Guzel I Davletshina, Vladimir A Trifonov, Svetlana A Romanenko
{"title":"Divergence and conservation of satellite DNA in the loggerhead sea turtle (Caretta caretta): a comparative cytogenomic analysis.","authors":"Katerina V Tishakova, Anastasia A Proskuryakova, Dmitry Yu Prokopov, Sergey A Marchenko, Alessio Iannucci, Claudio Ciofi, Livia Tolve, Paolo Casale, Pasquale Salvemini, Natalia A Serdyukova, Guzel I Davletshina, Vladimir A Trifonov, Svetlana A Romanenko","doi":"10.1007/s10577-026-09794-6","DOIUrl":"https://doi.org/10.1007/s10577-026-09794-6","url":null,"abstract":"<p><p>Repetitive DNA sequences, particularly satellite DNA (satDNA), are key components of eukaryotic genomes with important structural and potential functional roles. In this study, we used long-read assemblies and short-read sequencing to perform de novo identification of the most abundant satDNAs in the sea turtle Caretta caretta. We combined a bioinformatic approach and chromosome mapping to describe the distribution of the major tandem repetitive DNA sequences of this species. Additionally, we mapped major ribosomal DNA clusters, telomeric sequences and performed Chromomycin A3-DAPI-after G-banding (CDAG) staining to visualise AT-/GC-rich chromatin composition. We found that the C. caretta satellitome contains at least 18 satDNAs. Most of the satDNAs are localised in pericentromeric regions of chromosomes. We observed a differential, non-uniform distribution of repetitive DNA sequences between chromosomes: while most chromosomes carry blocks consisting of a single chromosome-specific satellite, some chromosomes contain complex heterochromatic blocks composed of multiple satellites. Comparative analysis showed inconsistencies between in situ and in silico satDNA mapping. These new data add to the knowledge about the diversity, distribution, and evolution of satDNA in the C. caretta genome.</p>","PeriodicalId":50698,"journal":{"name":"Chromosome Research","volume":"34 1","pages":""},"PeriodicalIF":2.8,"publicationDate":"2026-02-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147272713","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Emergence of satellite DNAs suggests centromeric repositioning as a driver of karyotypic variation of the freshwater darter characines (Apareiodon affinis). 卫星dna的出现表明着丝点重新定位是淡水鱼类(Apareiodon affinis)特征核型变异的驱动因素。
IF 2.8 4区 生物学
Chromosome Research Pub Date : 2026-02-20 DOI: 10.1007/s10577-026-09793-7
Marina Soares Ribas, Matheus Azambuja, Viviane Nogaroto, Marcelo Ricardo Vicari
{"title":"Emergence of satellite DNAs suggests centromeric repositioning as a driver of karyotypic variation of the freshwater darter characines (Apareiodon affinis).","authors":"Marina Soares Ribas, Matheus Azambuja, Viviane Nogaroto, Marcelo Ricardo Vicari","doi":"10.1007/s10577-026-09793-7","DOIUrl":"10.1007/s10577-026-09793-7","url":null,"abstract":"<p><p>Repetitive DNA sequences actively contribute to karyotype diversification by accumulating mutations, exhibiting susceptibility to DNA double-strand breaks that promote chromosomal rearrangements, and reshuffling within centromeric heterochromatin, among other processes. Parodontidae shows a conserved diploid number of 54, with predominantly metacentric and submetacentric chromosomes. Apareiodon affinis, from the Lower Paraná River, was described with three karyomorphs due to interpopulation structural variation, characterized by four to sixteen acrocentric chromosomes. However, the mechanisms driving chromosomal variation and the contribution of satellite DNA to these processes remain poorly understood. In this study, we characterized the A. affinis satellitome to assess the role of satellite sequences in the diversification of acrocentric chromosomes. A total of 48 satellite DNAs were identified, and 16 of them were mapped in situ. The data demonstrated that intragenomic homogenization mechanisms led to alterations in satellite sequence dominance, and intergenomic mechanisms contributed to the diversification of orthologous sequences when compared with other Characiformes families. In situ localization revealed that most satellites in the centromeric regions of acrocentric chromosomes were absent from the centromeres of meta/submetacentric chromosomes. The satellite AafSat01-200, which is highly diversified and the most abundant in the A. affinis genome, exhibits exclusive centromere localization on acrocentric chromosomes. Our results indicate the presence of distinct monomers with centromeric function in A. affinis and identify AafSat01-200 as the principal element involved in the centromeric repositioning mechanism that led the expansion of acrocentric chromosomes in this lineage.</p>","PeriodicalId":50698,"journal":{"name":"Chromosome Research","volume":"34 1","pages":""},"PeriodicalIF":2.8,"publicationDate":"2026-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12923391/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146259804","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Visualizing DNA repair factor recruitment at sites of transcription in single cells. 单细胞中转录位点DNA修复因子募集的可视化。
IF 2.8 4区 生物学
Chromosome Research Pub Date : 2026-01-03 DOI: 10.1007/s10577-025-09789-9
Tianyi Guan, Yuepeng Shi, Tae-Hee Lee, Philipp Oberdoerffer
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