IF 2.5 4区生物学

Chromosoma Pub Date : 2025-07-09 DOI: 10.1007/s00412-025-00833-5

Yamini Dalal, Daniël P Melters, Genevieve Almouzni

引用次数: 0

RAD18 promotes cell malignant behaviors of esophageal squamous cell carcinoma by modulating ATM/STAT3/PD-L1. RAD18通过调控ATM/STAT3/PD-L1促进食管鳞状细胞癌的细胞恶性行为。

IF 2.5 4区生物学

Chromosoma Pub Date : 2025-07-09 DOI: 10.1007/s00412-025-00832-6

Xianghui Yang, Qishi Song, Min Li, Da Liu

{"title":"RAD18 promotes cell malignant behaviors of esophageal squamous cell carcinoma by modulating ATM/STAT3/PD-L1.","authors":"Xianghui Yang, Qishi Song, Min Li, Da Liu","doi":"10.1007/s00412-025-00832-6","DOIUrl":"https://doi.org/10.1007/s00412-025-00832-6","url":null,"abstract":"Background: Esophageal cancer (EC) is still a difficult problem in medicine, depriving many patients of their lives every year. RAD18 and ATM were implicated in cancers including esophageal squamous cell carcinoma (ESCC). However, whether RAD18/ATM axis influences ESCC progression remains unclear.Methods: The abundance of genes and proteins was evaluated using RT-qPCR and western blot. Cell proliferation, migration and invasion were examined using clone formation, scratch test and transwell. The level of ATM ubiquitination was verified and experimented using Co-IP.Results: Our findings found that RAD18 expression was enhanced in TCGA database, in ESCC patients and ESCC cells. Similarly, ATM expression was declined in ESCC patients and ESCC cells. RAD18 silencing resulted in suppression of cell proliferation, migration and invasion of ESCC cells, which were abolished by ATM silencing. In addition, ATM silencing promoted malignant behaviors of ESCC cells by activating STAT3/PD-L1 axis, which was reversed by PD-L1 knockdown. Moreover, RAD18 could reduce ATM protein levels.Conclusion: RAD18 mediated ATM ubiquitination to reduce ATM protein level, thereby activating STAT3/PD-L1 axis and strengthening cell proliferation, migration and invasion of ESCC cells.","PeriodicalId":10248,"journal":{"name":"Chromosoma","volume":"134 1","pages":"6"},"PeriodicalIF":2.5,"publicationDate":"2025-07-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144590587","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

Regulatory effects of lncRNA PVT1 on transcriptome in human breast cancer MDA-MB-231 cell line determined by in silico analyses. lncRNA PVT1对人乳腺癌MDA-MB-231细胞系转录组的调控作用

IF 2.5 4区生物学

Chromosoma Pub Date : 2025-06-04 DOI: 10.1007/s00412-025-00830-8

Zohreh Jahanafrooz, Nassim Ghaffari-Tabrizi-Wizsy

{"title":"Regulatory effects of lncRNA PVT1 on transcriptome in human breast cancer MDA-MB-231 cell line determined by in silico analyses.","authors":"Zohreh Jahanafrooz, Nassim Ghaffari-Tabrizi-Wizsy","doi":"10.1007/s00412-025-00830-8","DOIUrl":"10.1007/s00412-025-00830-8","url":null,"abstract":"Overexpression or knockdown of a specific gene is usually helpful in understanding its underlying molecular mechanism. PVT1 gene is regarded as an oncogenic long non-coding RNA (lncRNA) in many cancers, including breast invasive carcinoma (BRCA). We investigated some of the underlying molecular mechanisms of PVT1 in human invasive breast cancer MDA-MB-231 cells. Differentially expressed genes (DEGs) were obtained after PVT1 overexpression and knockdown in MDA-MB-231 cells from the gene expression profiles GSE175736 and GSE97587. RNAInter database was used to predict miRNAs and TFs that have interactions with PVT1. Competing endogenous RNA (ceRNA) and transcription regulatory networks visualized using Cytoscape software. It was found that HLA-G, GBP4, SERPINE1, DHRS2, MT1X, and PRLR were common PVT1 co-upregulated and co-downregulated genes in the two datasets. SERPINE1 was identified as the most positively correlated gene with PVT1 expression in MDA-MB-231 cells. DEGs in overexpressed and silenced PVT1 cells were enriched in the cell adhesion process and JAK-STAT signaling pathway, respectively. In the ceRNA network, PVT1 acts as a competing endogenous RNA for downregulated miR-145-5p, miR-17-5p, and miR-20a-5p. PVT1/miR-145-5p/SERPINE1 was a common axis in ceRNA networks in the two datasets. SERPINIE1 was also a common node between ceRNA and transcription regulatory networks. RT-qPCR validated the anticipated levels of PVT1, miR-145-5p, and SERPINE1 in MDA-MB-231 cancer compared to MCF-10 A noncancerous cells. Taken together, the results of this work shed light on the several possible oncogenic mechanisms of PVT1, including its closely related genes and signaling pathways.","PeriodicalId":10248,"journal":{"name":"Chromosoma","volume":"134 1","pages":"5"},"PeriodicalIF":2.5,"publicationDate":"2025-06-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144215109","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

Variable organization of repeats and hidden diversity of XY sex chromosomes in Pentatomidae true Bugs (Hemiptera) revealed through comparative genomic hybridization. 通过比较基因组杂交揭示了半翅目蝽科真蝽（Pentatomidae true Bugs，半翅目）XY性染色体重复序列的可变组织和隐性多样性。

IF 2.5 4区生物学

Chromosoma Pub Date : 2025-05-26 DOI: 10.1007/s00412-025-00831-7

Diogo Milani, Vanessa B Bardella, Frederico Hickmann, Alberto S Corrêa, Andrew P Michel, Pablo Mora, José M Rico-Porras, Teresa Palomeque, Pedro Lorite, Diogo C Cabral-de-Mello

{"title":"Variable organization of repeats and hidden diversity of XY sex chromosomes in Pentatomidae true Bugs (Hemiptera) revealed through comparative genomic hybridization.","authors":"Diogo Milani, Vanessa B Bardella, Frederico Hickmann, Alberto S Corrêa, Andrew P Michel, Pablo Mora, José M Rico-Porras, Teresa Palomeque, Pedro Lorite, Diogo C Cabral-de-Mello","doi":"10.1007/s00412-025-00831-7","DOIUrl":"10.1007/s00412-025-00831-7","url":null,"abstract":"Sex chromosomes have independently evolved in various species, displaying unique evolutionary patterns, including differentiation, degeneration, and repetitive DNA accumulation. Pentatomidae hemipterans are characterized by a highly conserved diploid number of 2n = 14 with a XX/XY sex chromosome system, i.e. 2n = 14, 12 A + XY. Thus, it represents an interesting group for investigating the reorganization of repeats in conserved karyotypes, i.e. the absence of large chromosomal rearrangements. Using comparative genomic hybridization (CGH) with male and female genomic DNAs (gDNA), this study examined a total of 25 Pentatomidae species to uncover repetitive DNA dynamics and their role in chromosome differentiation, especially sex chromosome differentiation. New karyotype data for nine species reinforces the chromosomal stasis in Pentatomidae for macro-chromosomal structure. However, significant variability in repetitive DNA patterns on autosomes and sex chromosomes has been revealed despite the karyotypic conservation. Autosomal signals varied in intensity and distribution, with some species exhibiting terminal enrichment of repeats, while others displayed dispersed patterns. Sex chromosomes showed distinct hybridization patterns, with the Y chromosome exhibiting more significant variability compared to the X. These findings emphasize the dynamic nature of sex chromosomes and suggest further studies combining genomic sequencing and cytogenetics to uncover sequences and the mechanisms behind their evolution.","PeriodicalId":10248,"journal":{"name":"Chromosoma","volume":"134 1","pages":"4"},"PeriodicalIF":2.5,"publicationDate":"2025-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144141866","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

Tetraploidy in normal tissues and diseases: mechanisms and consequences. 正常组织和疾病中的四倍体：机制和后果。

IF 2.5 4区生物学

Chromosoma Pub Date : 2025-03-21 DOI: 10.1007/s00412-025-00829-1

Micheline Kirsch-Volders, Miroslav Mišík, Michael Fenech

{"title":"Tetraploidy in normal tissues and diseases: mechanisms and consequences.","authors":"Micheline Kirsch-Volders, Miroslav Mišík, Michael Fenech","doi":"10.1007/s00412-025-00829-1","DOIUrl":"10.1007/s00412-025-00829-1","url":null,"abstract":"Tetraploidisation plays a crucial role in evolution, development, stress adaptation, and disease, but its beneficial or pathological effects in different tissues remain unclear. This study aims to compare physiological and unphysiological tetraploidy in eight steps: 1) mechanisms of diploidy-to-tetraploidy transition, 2) induction and elimination of unphysiological tetraploidy, 3) tetraploid cell characteristics, 4) stress-induced unphysiological tetraploidy, 5) comparison of physiological vs. unphysiological tetraploidy, 6) consequences of unphysiological stress-induced tetraploidy, 7) nutritional or pharmacological prevention strategies of tetraploidisation, and 8) knowledge gaps and future perspectives. Unphysiological tetraploidy is an adaptive stress response at a given threshold, often involving mitotic slippage. If tetraploid cells evade elimination through apoptosis or immune surveillance, they may re-enter the cell cycle, causing genetic instability, micronuclei formation, aneuploidy, modification of the epigenome and the development of diseases. The potential contributions of unphysiological tetraploidy to neurodegenerative, cardiovascular and diabetes related diseases are summarized in schematic figures and contrasted with its role in cancer development. The mechanisms responsible for the transition from physiological to unphysiological tetraploidy and the tolerance to tetraploidisation in unphysiological tetraploidy are not fully understood. Understanding these mechanisms is of critical importance to allow the development of targeted nutritional and pharmacological prevention strategies and therapies.","PeriodicalId":10248,"journal":{"name":"Chromosoma","volume":"134 1","pages":"3"},"PeriodicalIF":2.5,"publicationDate":"2025-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11928420/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143673431","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

Towards identification of a holocentromere marker in the lepidopteran model Spodoptera frugiperda. 鳞翅目模型中全新中心粒标记的鉴定。

IF 2.5 4区生物学

Chromosoma Pub Date : 2025-03-11 DOI: 10.1007/s00412-025-00828-2

Sylvie Gimenez, Magali Eychenne, Fabrice Legeai, Sally Gamble, Emmanuelle d'Alençon

{"title":"Towards identification of a holocentromere marker in the lepidopteran model Spodoptera frugiperda.","authors":"Sylvie Gimenez, Magali Eychenne, Fabrice Legeai, Sally Gamble, Emmanuelle d'Alençon","doi":"10.1007/s00412-025-00828-2","DOIUrl":"10.1007/s00412-025-00828-2","url":null,"abstract":"Some insects have holocentric chromosomes, with multiple kinetochores rather than a single centromere. They also lack the CENP-A and CENP-C proteins, suggesting a kinetochore assembly process different from that of monocentric chromosomes. The homolog of CENP-T was recently shown to bind silent chromatin and to play a key role in kinetochore assembly in Bombyx mori, but its role in other insects with holocentric chromosomes is unknown. We identified kinetochore genes and analyzed their expression in Spodoptera frugiperda. We silenced the kinetochore genes cenp-L, cenp-S, cenp-X and ndc80 and searched for chromosome segregation defects in Sf9 cells. All kinetochore genes except cenp-S were more strongly expressed in gonadal than in somatic tissues. Immunofluorescence microscopy and RT-qPCR demonstrated the effective silencing of the target genes by transfection with dsRNA. In Sf9 cells depleted of CENP-L and NDC80, immunofluorescence microscopy revealed increases in mitotic index and in the proportion of cells with unaligned chromosomes or multipolar spindles. The depletion of CENP-S and CENP-X had no effect on mitotic index and no division defects were observed. This suggests that CENP-L and NDC80 play key roles in chromosome segregation, whereas the functions of CENP-S and CENP-X remain unknown. We have begun to characterize the kinetochore proteins (CENP-L, CENP-S, CENP-X, NDC80), a prerequisite for holocentromere identification in S. frugiperda. This study also provides the first information about the role, in Lepidoptera, of CENP-L, a protein essential to the structure of the constitutive centromere-associated network in species with monocentric chromosomes.","PeriodicalId":10248,"journal":{"name":"Chromosoma","volume":"134 1","pages":"2"},"PeriodicalIF":2.5,"publicationDate":"2025-03-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11897090/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143603075","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

Genome location, evolution and centromeric contribution of satellite DNAs shared between the two closely related species Drosophila serido and D. antonietae (repleta group, buzzatii cluster). 两种亲缘关系较近的果蝇（Drosophila serido）和antonietae （Drosophila antonietae, repleta group, buzzatii cluster）共享卫星dna的基因组定位、进化和着丝粒贡献

IF 2.5 4区生物学

Chromosoma Pub Date : 2024-12-10 DOI: 10.1007/s00412-024-00827-9

Ana Mattioli Laborne, Dora Yovana Barrios-Leal, John S Heslop-Harrison, Maura Helena Manfrin, Gustavo C S Kuhn

{"title":"Genome location, evolution and centromeric contribution of satellite DNAs shared between the two closely related species Drosophila serido and D. antonietae (repleta group, buzzatii cluster).","authors":"Ana Mattioli Laborne, Dora Yovana Barrios-Leal, John S Heslop-Harrison, Maura Helena Manfrin, Gustavo C S Kuhn","doi":"10.1007/s00412-024-00827-9","DOIUrl":"10.1007/s00412-024-00827-9","url":null,"abstract":"Satellite DNAs are highly repetitive, tandemly arranged sequences, typically making up large portions (> 20%) of the eukaryotic genome. Most satDNAs are fast evolving and changes in their abundance and nucleotide composition may be related to genetic incompatibilities between species. Here, we used Illumina paired-end sequencing raw data and graph-based read-clustering with the TAREAN bioinformatic tool to study the satDNAs in two cactophilic neotropical cryptic species of Drosophila from the buzzatii cluster (repleta group), D. serido and D. antonietae, from five localities in Brazil. Both species share the same four families of satDNAs: pBuM, DBC-150, CDSTR138 and CDSTR230. They represent less than 4% of the genomic DNA and there are no large differences in the abundance of each satDNA between species. Despite not being the most abundant satDNA, CDSTR138 was found to be associated with most centromeres. All four satDNAs showed instances where repeats are more homogeneous within than between species, a phenomenon known as concerted evolution. On the other hand, there was no evidence for concerted evolution at the population level. Thus, these satDNAs may also be useful as potential markers for species identification. The low levels of satDNA differentiation (both quantitatively as qualitatively) between the two species might be among the reasons that allowed the establishment of a hybrid zone between the two species in the southern coast of Brazil.","PeriodicalId":10248,"journal":{"name":"Chromosoma","volume":"134 1","pages":"1"},"PeriodicalIF":2.5,"publicationDate":"2024-12-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142799181","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

Multifaceted role of CTCF in X-chromosome inactivation. CTCF 在 X 染色体失活中的多方面作用

IF 2.5 4区生物学

Chromosoma Pub Date : 2024-10-01 Epub Date: 2024-10-21 DOI: 10.1007/s00412-024-00826-w

Lakshmi Sowjanya Bammidi, Srimonta Gayen

引用次数: 0

The passing of the last oracle: Adelaide Carpenter and Drosophila meiosis. 最后一个神谕的逝去阿德莱德-卡彭特与果蝇的减数分裂

IF 2.5 4区生物学

Chromosoma Pub Date : 2024-10-01 DOI: 10.1007/s00412-024-00825-x

R Scott Hawley, Helen K Salz, Kim S McKim, Jeff Sekelsky

引用次数: 0

Novel centromeric repetitive DNA elements reveal karyotype dynamics in polyploid sainfoin (Onobrychis viciifolia) 新的中心粒重复DNA元件揭示了多倍体红豆杉（Onobrychis viciifolia）核型的动态变化

IF 1.6 4区生物学

Chromosoma Pub Date : 2024-09-13 DOI: 10.1007/s00412-024-00824-y

Sevim D. Kara Öztürk, Ahmet L. Tek

{"title":"Novel centromeric repetitive DNA elements reveal karyotype dynamics in polyploid sainfoin (Onobrychis viciifolia)","authors":"Sevim D. Kara Öztürk, Ahmet L. Tek","doi":"10.1007/s00412-024-00824-y","DOIUrl":"https://doi.org/10.1007/s00412-024-00824-y","url":null,"abstract":"Polyploidy is a common feature in eukaryotes with one of paramount consequences leading to better environmental adaptation. Heterochromatin is often located at telomeres and centromeres and contains repetitive DNA sequences. Sainfoin (Onobrychis viciifolia) is an important perennial forage legume for sustainable agriculture. However, there are only a few studies on the sainfoin genome and chromosomes. In this study, novel tandem repetitive DNA sequences of the sainfoin genome (OnVi180, OnVi169, OnVi176 and OnVidimer) were characterized using bioinformatics, molecular and cytogenetic approaches. The OnVi180 and OnVi169 elements colocalized within functional centromeres. The OnVi176 and OnVidimer elements were localized in centromeric, subtelomeric and interstitial regions. We constructed a sainfoin karyotype that distinguishes the seven basic chromosome groups. Our study provides the first detailed description of heterochromatin and chromosome structure of sainfoin and proposes an origin of heterozygous ancestral genomes, possibly from the same ancestral diploid species, not necessarily from different species, or for chromosome rearrangements after polyploidy. Overall, we discuss our novel and complementary findings in a polyploid crop with unique and complex chromosomal features.","PeriodicalId":10248,"journal":{"name":"Chromosoma","volume":"70 1","pages":""},"PeriodicalIF":1.6,"publicationDate":"2024-09-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142203257","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

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