Chromosoma最新文献_第2页

Vertebrate centromere architecture: from chromatin threads to functional structures. 脊椎动物的中心粒结构：从染色质线到功能结构。

IF 2.5 4区生物学

Chromosoma Pub Date : 2024-07-01 Epub Date: 2024-06-10 DOI: 10.1007/s00412-024-00823-z

Lorena Andrade Ruiz, Geert J P L Kops, Carlos Sacristan

{"title":"Vertebrate centromere architecture: from chromatin threads to functional structures.","authors":"Lorena Andrade Ruiz, Geert J P L Kops, Carlos Sacristan","doi":"10.1007/s00412-024-00823-z","DOIUrl":"10.1007/s00412-024-00823-z","url":null,"abstract":"Centromeres are chromatin structures specialized in sister chromatid cohesion, kinetochore assembly, and microtubule attachment during chromosome segregation. The regional centromere of vertebrates consists of long regions of highly repetitive sequences occupied by the Histone H3 variant CENP-A, and which are flanked by pericentromeres. The three-dimensional organization of centromeric chromatin is paramount for its functionality and its ability to withstand spindle forces. Alongside CENP-A, key contributors to the folding of this structure include components of the Constitutive Centromere-Associated Network (CCAN), the protein CENP-B, and condensin and cohesin complexes. Despite its importance, the intricate architecture of the regional centromere of vertebrates remains largely unknown. Recent advancements in long-read sequencing, super-resolution and cryo-electron microscopy, and chromosome conformation capture techniques have significantly improved our understanding of this structure at various levels, from the linear arrangement of centromeric sequences and their epigenetic landscape to their higher-order compaction. In this review, we discuss the latest insights on centromere organization and place them in the context of recent findings describing a bipartite higher-order organization of the centromere.","PeriodicalId":10248,"journal":{"name":"Chromosoma","volume":" ","pages":"169-181"},"PeriodicalIF":2.5,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11266386/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141295694","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

CTCF is essential for proper mitotic spindle structure and anaphase segregation. CTCF对于正确的有丝分裂纺锤体结构和后期分离是必不可少的。

IF 2.5 4区生物学

Chromosoma Pub Date : 2024-07-01 Epub Date: 2023-09-20 DOI: 10.1007/s00412-023-00810-w

Katherine Chiu, Yasmin Berrada, Nebiyat Eskndir, Dasol Song, Claire Fong, Sarah Naughton, Tina Chen, Savanna Moy, Sarah Gyurmey, Liam James, Chimere Ezeiruaku, Caroline Capistran, Daniel Lowey, Vedang Diwanji, Samantha Peterson, Harshini Parakh, Ayanna R Burgess, Cassandra Probert, Annie Zhu, Bryn Anderson, Nehora Levi, Gabi Gerlitz, Mary C Packard, Katherine A Dorfman, Michael Seifu Bahiru, Andrew D Stephens

{"title":"CTCF is essential for proper mitotic spindle structure and anaphase segregation.","authors":"Katherine Chiu, Yasmin Berrada, Nebiyat Eskndir, Dasol Song, Claire Fong, Sarah Naughton, Tina Chen, Savanna Moy, Sarah Gyurmey, Liam James, Chimere Ezeiruaku, Caroline Capistran, Daniel Lowey, Vedang Diwanji, Samantha Peterson, Harshini Parakh, Ayanna R Burgess, Cassandra Probert, Annie Zhu, Bryn Anderson, Nehora Levi, Gabi Gerlitz, Mary C Packard, Katherine A Dorfman, Michael Seifu Bahiru, Andrew D Stephens","doi":"10.1007/s00412-023-00810-w","DOIUrl":"10.1007/s00412-023-00810-w","url":null,"abstract":"Mitosis is an essential process in which the duplicated genome is segregated equally into two daughter cells. CTCF has been reported to be present in mitosis and has a role in localizing CENP-E, but its importance for mitotic fidelity remains to be determined. To evaluate the importance of CTCF in mitosis, we tracked mitotic behaviors in wild-type and two different CTCF CRISPR-based genetic knockdowns. We find that knockdown of CTCF results in prolonged mitoses and failed anaphase segregation via time-lapse imaging of SiR-DNA. CTCF knockdown did not alter cell cycling or the mitotic checkpoint, which was activated upon nocodazole treatment. Immunofluorescence imaging of the mitotic spindle in CTCF knockdowns revealed disorganization via tri/tetrapolar spindles and chromosomes behind the spindle pole. Imaging of interphase nuclei showed that nuclear size increased drastically, consistent with failure to divide the duplicated genome in anaphase. Long-term inhibition of CNEP-E via GSK923295 recapitulates CTCF knockdown abnormal mitotic spindles with polar chromosomes and increased nuclear sizes. Population measurements of nuclear shape in CTCF knockdowns do not display decreased circularity or increased nuclear blebbing relative to wild-type. However, failed mitoses do display abnormal nuclear morphologies relative to successful mitoses, suggesting that population images do not capture individual behaviors. Thus, CTCF is important for both proper metaphase organization and anaphase segregation which impacts the size and shape of the interphase nucleus likely through its known role in recruiting CENP-E.","PeriodicalId":10248,"journal":{"name":"Chromosoma","volume":" ","pages":"183-194"},"PeriodicalIF":2.5,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41112066","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

CCAAT Promoter element regulates transgenerational expression of the MHC class I gene. CCAAT 启动子元件调控 MHC I 类基因的转代表达。

IF 2.5 4区生物学

Chromosoma Pub Date : 2024-07-01 Epub Date: 2024-06-26 DOI: 10.1007/s00412-024-00820-2

Jocelyn D Weissman, Aparna Kotekar, Zohar Barbash, Jie Mu, Dinah S Singer

{"title":"CCAAT Promoter element regulates transgenerational expression of the MHC class I gene.","authors":"Jocelyn D Weissman, Aparna Kotekar, Zohar Barbash, Jie Mu, Dinah S Singer","doi":"10.1007/s00412-024-00820-2","DOIUrl":"10.1007/s00412-024-00820-2","url":null,"abstract":"Transgenerational gene expression depends on both underlying DNA sequences and epigenetic modifications. The latter, which can result in transmission of variegated gene expression patterns across multiple generations without DNA alterations, has been termed epigenetic inheritance and has been documented in plants, worms, flies and mammals. Whereas transcription factors binding to cognate DNA sequence elements regulate gene expression, the molecular basis for epigenetic inheritance has been linked to histone and DNA modifications and non-coding RNA. Here we report that mutation of the CCAAT box promoter element abrogates NF-Y binding and disrupts the stable transgenerational expression of an MHC class I transgene. Transgenic mice with a mutated CCAAT box in the MHC class I transgene display variegated expression of the transgene among littermates and progeny in multiple independently derived transgenic lines. After 4 generations, CCAAT mutant transgenic lines derived from a single founder stably displayed distinct patterns of expression. Histone modifications and RNA polymerase II binding correlate with expression of CCAAT mutant transgenic lines, whereas DNA methylation and nucleosome occupancy do not. Mutation of the CCAAT box also results in changes to CTCF binding and DNA looping patterns across the transgene that correlate with expression status. These studies identify the CCAAT promoter element as a regulator of stable transgenerational gene expression such that mutation of the CCAAT box results in variegated transgenerational inheritance. Considering that the CCAAT box is present in 30% of eukaryotic promoters, this study provides insights into how fidelity of gene expression patterns is maintained through multiple generations.","PeriodicalId":10248,"journal":{"name":"Chromosoma","volume":" ","pages":"203-216"},"PeriodicalIF":2.5,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11266202/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141449856","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

Chromatin organization and behavior in HRAS-transformed mouse fibroblasts. HRAS转化小鼠成纤维细胞的染色质组织与行为

IF 2.5 4区生物学

Chromosoma Pub Date : 2024-04-01 Epub Date: 2024-02-24 DOI: 10.1007/s00412-024-00817-x

Aoi Otsuka, Katsuhiko Minami, Koichi Higashi, Akane Kawaguchi, Sachiko Tamura, Satoru Ide, Michael J Hendzel, Ken Kurokawa, Kazuhiro Maeshima

{"title":"Chromatin organization and behavior in HRAS-transformed mouse fibroblasts.","authors":"Aoi Otsuka, Katsuhiko Minami, Koichi Higashi, Akane Kawaguchi, Sachiko Tamura, Satoru Ide, Michael J Hendzel, Ken Kurokawa, Kazuhiro Maeshima","doi":"10.1007/s00412-024-00817-x","DOIUrl":"10.1007/s00412-024-00817-x","url":null,"abstract":"In higher eukaryotic cells, a string of nucleosomes, where long genomic DNA is wrapped around core histones, are rather irregularly folded into a number of condensed chromatin domains, which have been revealed by super-resolution imaging and Hi-C technologies. Inside these domains, nucleosomes fluctuate and locally behave like a liquid. The behavior of chromatin may be highly related to DNA transaction activities such as transcription and repair, which are often upregulated in cancer cells. To investigate chromatin behavior in cancer cells and compare those of cancer and non-cancer cells, we focused on oncogenic-HRAS (Gly12Val)-transformed mouse fibroblasts CIRAS-3 cells and their parental 10T1/2 cells. CIRAS-3 cells are tumorigenic and highly metastatic. First, we found that HRAS-induced transformation altered not only chromosome structure, but also nuclear morphology in the cell. Using single-nucleosome imaging/tracking in live cells, we demonstrated that nucleosomes are locally more constrained in CIRAS-3 cells than in 10T1/2 cells. Consistently, heterochromatin marked with H3K27me3 was upregulated in CIRAS-3 cells. Finally, Hi-C analysis showed enriched interactions of the B-B compartment in CIRAS-3 cells, which likely represents transcriptionally inactive chromatin. Increased heterochromatin may play an important role in cell migration, as they have been reported to increase during metastasis. Our study also suggests that single-nucleosome imaging provides new insights into how local chromatin is structured in living cells.","PeriodicalId":10248,"journal":{"name":"Chromosoma","volume":" ","pages":"135-148"},"PeriodicalIF":2.5,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139943885","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

Dicentric chromosomes are resolved through breakage and repair at their centromeres. 双心染色体是通过中心粒的断裂和修复来解决的。

IF 2.5 4区生物学

Chromosoma Pub Date : 2024-04-01 Epub Date: 2024-01-02 DOI: 10.1007/s00412-023-00814-6

Diana Cook, Stanislav G Kozmin, Elaine Yeh, Thomas D Petes, Kerry Bloom

{"title":"Dicentric chromosomes are resolved through breakage and repair at their centromeres.","authors":"Diana Cook, Stanislav G Kozmin, Elaine Yeh, Thomas D Petes, Kerry Bloom","doi":"10.1007/s00412-023-00814-6","DOIUrl":"10.1007/s00412-023-00814-6","url":null,"abstract":"Chromosomes with two centromeres provide a unique opportunity to study chromosome breakage and DNA repair using completely endogenous cellular machinery. Using a conditional transcriptional promoter to control the second centromere, we are able to activate the dicentric chromosome and follow the appearance of DNA repair products. We find that the rate of appearance of DNA repair products resulting from homology-based mechanisms exceeds the expected rate based on their limited centromere homology (340 bp) and distance from one another (up to 46.3 kb). In order to identify whether DNA breaks originate in the centromere, we introduced 12 single-nucleotide polymorphisms (SNPs) into one of the centromeres. Analysis of the distribution of SNPs in the recombinant centromeres reveals that recombination was initiated with about equal frequency within the conserved centromere DNA elements CDEII and CDEIII of the two centromeres. The conversion tracts range from about 50 bp to the full length of the homology between the two centromeres (340 bp). Breakage and repair events within and between the centromeres can account for the efficiency and distribution of DNA repair products. We propose that in addition to providing a site for kinetochore assembly, the centromere may be a point of stress relief in the face of genomic perturbations.","PeriodicalId":10248,"journal":{"name":"Chromosoma","volume":" ","pages":"117-134"},"PeriodicalIF":2.5,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11180013/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139073493","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

Kinesin-7 CENP-E mediates chromosome alignment and spindle assembly checkpoint in meiosis I. 驱动蛋白-7 CENP-E介导减数分裂 I 中的染色体排列和纺锤体组装检查点

IF 2.5 4区生物学

Chromosoma Pub Date : 2024-04-01 Epub Date: 2024-03-08 DOI: 10.1007/s00412-024-00818-w

Jing-Lian Zhang, Meng-Fei Xu, Jie Chen, Ya-Lan Wei, Zhen-Yu She

{"title":"Kinesin-7 CENP-E mediates chromosome alignment and spindle assembly checkpoint in meiosis I.","authors":"Jing-Lian Zhang, Meng-Fei Xu, Jie Chen, Ya-Lan Wei, Zhen-Yu She","doi":"10.1007/s00412-024-00818-w","DOIUrl":"10.1007/s00412-024-00818-w","url":null,"abstract":"In eukaryotes, meiosis is the genetic basis for sexual reproduction, which is important for chromosome stability and species evolution. The defects in meiosis usually lead to chromosome aneuploidy, reduced gamete number, and genetic diseases, but the pathogenic mechanisms are not well clarified. Kinesin-7 CENP-E is a key regulator in chromosome alignment and spindle assembly checkpoint in cell division. However, the functions and mechanisms of CENP-E in male meiosis remain largely unknown. In this study, we have revealed that the CENP-E gene was highly expressed in the rat testis. CENP-E inhibition influences chromosome alignment and spindle organization in metaphase I spermatocytes. We have found that a portion of misaligned homologous chromosomes is located at the spindle poles after CENP-E inhibition, which further activates the spindle assembly checkpoint during the metaphase-to-anaphase transition in rat spermatocytes. Furthermore, CENP-E depletion leads to abnormal spermatogenesis, reduced sperm count, and abnormal sperm head structure. Our findings have elucidated that CENP-E is essential for homologous chromosome alignment and spindle assembly checkpoint in spermatocytes, which further contribute to chromosome stability and sperm cell quality during spermatogenesis.","PeriodicalId":10248,"journal":{"name":"Chromosoma","volume":" ","pages":"149-168"},"PeriodicalIF":2.5,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140058859","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

Meiosis through three centuries. 三个世纪的减数分裂

IF 2.5 4区生物学

Chromosoma Pub Date : 2024-04-01 DOI: 10.1007/s00412-024-00822-0

Gareth Jones, Nancy Kleckner, Denise Zickler

引用次数: 0

Interspecific cytogenomic comparison reveals a potential chromosomal centromeric marker in Proceratophrys frog species 种间细胞基因组比较揭示了一种潜在的青蛙染色体中心粒标记

IF 1.6 4区生物学

Chromosoma Pub Date : 2024-03-28 DOI: 10.1007/s00412-024-00819-9

Marcelo João da Silva, Raquel Fogarin Destro, Thiago Gazoni, Patricia Pasquali Parise-Maltempi

{"title":"Interspecific cytogenomic comparison reveals a potential chromosomal centromeric marker in Proceratophrys frog species","authors":"Marcelo João da Silva, Raquel Fogarin Destro, Thiago Gazoni, Patricia Pasquali Parise-Maltempi","doi":"10.1007/s00412-024-00819-9","DOIUrl":"https://doi.org/10.1007/s00412-024-00819-9","url":null,"abstract":"Among the repetitive elements, satellite DNA (SatDNA) emerges as extensive arrays of highly similar tandemly repeated units, spanning megabases in length. Given that the satDNA PboSat01-176, previously characterized in P. boiei, prompted our interest for having a high abundance in P. boiei and potential for centromeric satellite, here, we employed various approaches, including low coverage genome sequencing, followed by computational analysis and chromosomal localization techniques in four Proceratophrys species and, investigating the genomic presence and sharing, as well as its potential for chromosomal centromere marker in Proceratophrys frog species. Our findings demonstrate that PboSat01-176 exhibits high abundance across all four Proceratophrys species, displaying distinct characteristics that establish it as the predominant repetitive DNA element in these species. The satellite DNA is prominently clustered in the peri/centromeric region of the chromosomes, particularly in the heterochromatic regions. The widespread presence of PboSat01-176 in closely related Proceratophrys species reinforces the validity of the library hypothesis for repetitive sequences. Thus, this study highlighted the utility of the satDNA family PboSat01-176 as a reliable centromeric marker in Proceratophrys species, with potential to be applied in other species of anuran amphibians. The observed sharing and maintenance of this sequence within the genus suggest possibilities for future research, particularly through expanded sampling to elucidate parameters that underlie the library hypothesis and the evolutionary dynamics of satDNA sequences.","PeriodicalId":10248,"journal":{"name":"Chromosoma","volume":"7 1","pages":""},"PeriodicalIF":1.6,"publicationDate":"2024-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140315379","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

Maintenance of genome integrity under physical constraints. 在物理限制条件下保持基因组的完整性。

IF 2.5 4区生物学

Chromosoma Pub Date : 2024-01-01 DOI: 10.1007/s00412-024-00816-y

Evi Soutoglou, Philipp Oberdoerffer

引用次数: 0

Genome maintenance meets mechanobiology. 基因组维护与机械生物学的结合

IF 2.5 4区生物学

Chromosoma Pub Date : 2024-01-01 Epub Date: 2023-08-15 DOI: 10.1007/s00412-023-00807-5

Vincent Spegg, Matthias Altmeyer

{"title":"Genome maintenance meets mechanobiology.","authors":"Vincent Spegg, Matthias Altmeyer","doi":"10.1007/s00412-023-00807-5","DOIUrl":"10.1007/s00412-023-00807-5","url":null,"abstract":"Genome stability is key for healthy cells in healthy organisms, and deregulated maintenance of genome integrity is a hallmark of aging and of age-associated diseases including cancer and neurodegeneration. To maintain a stable genome, genome surveillance and repair pathways are closely intertwined with cell cycle regulation and with DNA transactions that occur during transcription and DNA replication. Coordination of these processes across different time and length scales involves dynamic changes of chromatin topology, clustering of fragile genomic regions and repair factors into nuclear repair centers, mobilization of the nuclear cytoskeleton, and activation of cell cycle checkpoints. Here, we provide a general overview of cell cycle regulation and of the processes involved in genome duplication in human cells, followed by an introduction to replication stress and to the cellular responses elicited by perturbed DNA synthesis. We discuss fragile genomic regions that experience high levels of replication stress, with a particular focus on telomere fragility caused by replication stress at the ends of linear chromosomes. Using alternative lengthening of telomeres (ALT) in cancer cells and ALT-associated PML bodies (APBs) as examples of replication stress-associated clustered DNA damage, we discuss compartmentalization of DNA repair reactions and the role of protein properties implicated in phase separation. Finally, we highlight emerging connections between DNA repair and mechanobiology and discuss how biomolecular condensates, components of the nuclear cytoskeleton, and interfaces between membrane-bound organelles and membraneless macromolecular condensates may cooperate to coordinate genome maintenance in space and time.","PeriodicalId":10248,"journal":{"name":"Chromosoma","volume":" ","pages":"15-36"},"PeriodicalIF":2.5,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10904543/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10001098","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