Chromosome Research最新文献

Preserving centromere identity: right amounts of CENP-A at the right place and time. 保持着丝粒的同一性：在正确的时间和地点使用适量的CENP-A。

IF 2.8 4区生物学

Chromosome Research Pub Date : 2025-09-30 DOI: 10.1007/s10577-025-09780-4

Zofia Pukało, Bethan Medina-Pritchard, Maria Alba Abad, A Arockia Jeyaprakash

引用次数: 0

CENP-A is diluted during bovine spermatogenesis and is maintained at internally positioned centromere clusters in mature bull sperm. CENP-A在牛精子发生过程中被稀释，并维持在成熟公牛精子的内部定位着丝粒簇中。

IF 2.8 4区生物学

Chromosome Research Pub Date : 2025-09-16 DOI: 10.1007/s10577-025-09781-3

Miriama Štiavnická, Anna Ní Nualláin, Caitríona M Collins, Elaine M Dunleavy

{"title":"CENP-A is diluted during bovine spermatogenesis and is maintained at internally positioned centromere clusters in mature bull sperm.","authors":"Miriama Štiavnická, Anna Ní Nualláin, Caitríona M Collins, Elaine M Dunleavy","doi":"10.1007/s10577-025-09781-3","DOIUrl":"10.1007/s10577-025-09781-3","url":null,"abstract":"During spermatogenesis, chromatin structure is remodelled by the incorporation of distinct histone variants and associated posttranslational modifications, followed by the almost complete replacement of histones by protamines in sperm. However, the dynamics of the centromere-specific histone H3 variant CENP-A have not yet been elucidated during spermatogenesis in mammals. Here we investigate CENP-A localisation dynamics in cattle (Bos taurus). In bovine testis tissue sections, we quantify CENP-A intensity in key germ cell types; spermatogonia (pre-meiotic), primary spermatocytes (meiotic) and spermatids (post-meiotic). Our quantitation shows that spermatogonia harbour the highest amount of CENP-A compared to all other germ cell types. Spermatids have approximately one quarter the amount of CENP-A of spermatogonia indicating that overall, it is reduced and maintained through the two meiotic divisions. Yet, we also observed some unexpected dynamics. CENP-A is asymmetrically distributed such that undifferentiated spermatogonia harbour more CENP-A that differentiated spermatogonia that enter meiosis. We also noted an increase in CENP-A intensity in primary spermatocytes during meiotic prophase I, which is indicative of centromere assembly at this time. We also confirm the specific maintenance of CENP-A, and the absence of the centromeric DNA binding protein CENP-B, on mature bull sperm nuclei that have completed histone-to-protamine exchange. Finally, we present a model for centromere positioning in mature sperm nuclei and propose that centralised clustering of centromeres may serve a protective function during histone-to-protamine exchange.","PeriodicalId":50698,"journal":{"name":"Chromosome Research","volume":"33 1","pages":"20"},"PeriodicalIF":2.8,"publicationDate":"2025-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12441075/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145076500","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 centromere: the punching bag of the chromosome. 着丝粒：染色体的出气筒。

IF 2.8 4区生物学

Chromosome Research Pub Date : 2025-08-30 DOI: 10.1007/s10577-025-09778-y

Annapaola Angrisani, Daniele Fachinetti

引用次数: 0

Fungi as models of centromere innovation: from DNA sequence to 3-dimensional arrangement. 真菌作为着丝粒创新的模型：从DNA序列到三维排列。

IF 2.8 4区生物学

Chromosome Research Pub Date : 2025-08-11 DOI: 10.1007/s10577-025-09775-1

Srijana Dutta, Krishna Bhat, Rashi Aggarwal, Kaustuv Sanyal

{"title":"Fungi as models of centromere innovation: from DNA sequence to 3-dimensional arrangement.","authors":"Srijana Dutta, Krishna Bhat, Rashi Aggarwal, Kaustuv Sanyal","doi":"10.1007/s10577-025-09775-1","DOIUrl":"https://doi.org/10.1007/s10577-025-09775-1","url":null,"abstract":"Faithful chromosome segregation is facilitated by the centromeres, specialized genomic loci, which connect chromosomes to microtubules in every cell cycle by recruiting the kinetochore complex. However, a single conserved code does not govern the formation and maintenance of centromeres, as we begin to realize that enormous diversity exists in molecular mechanisms dictating centromere homeostasis across species. The fungal kingdom is a vast resource to study and appreciate the divergent nature of the conserved phenomenon of chromosome segregation. Studies in the fungal kingdom enable researchers to view the evolution of centromeres at the molecular level. While some organisms, such as Saccharomyces cerevisiae, rely on a strict genetically determined centromere establishment, most fungi adopt epigenetically driven mechanisms of centromere propagation. This epigenomic regulation ranges from modifications on the underlying DNA to histones forming the centric and pericentric regions. The centromere DNA sequence, arrangement of sequence elements, its transcription state, and the replication timing, as well as its spatial position in the nucleus, play a major role in determining centromere stability and its function. In this review, we aim to highlight the spectrum of centromere regulatory mechanisms observed in fungi and discuss the gaps in the research that can provide new perspectives on centromere biology.","PeriodicalId":50698,"journal":{"name":"Chromosome Research","volume":"33 1","pages":"18"},"PeriodicalIF":2.8,"publicationDate":"2025-08-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144818150","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

Centromeres drive and take a break. 着丝粒开车休息。

IF 2.8 4区生物学

Chromosome Research Pub Date : 2025-08-04 DOI: 10.1007/s10577-025-09777-z

Paul B Talbert, Steven Henikoff

{"title":"Centromeres drive and take a break.","authors":"Paul B Talbert, Steven Henikoff","doi":"10.1007/s10577-025-09777-z","DOIUrl":"10.1007/s10577-025-09777-z","url":null,"abstract":"The identification of CENPA, CENPB, and CENPC by Earnshaw and Rothfield 40 years ago has revealed the remarkable diversity and complexity of centromeres and confirmed most seed plants and animals have centromeres comprised of complex satellite arrays. The rapid evolution of centromeres and positive selection on CENPA and CENPC led to the centromere drive model, in which competition between tandem satellite arrays of differing size and centromere strength for inclusion in the egg of animals or megaspore of seed plants during female meiosis drives rapid evolution of centromeres and kinetochore proteins. Here we review recent work showing that non-B-form DNA structures in satellite centromeres make them sites of frequent replication fork stalling, and that repair of collapsed forks by break-induced replication rather than unequal sister chromatid exchange is likely the primary mode of satellite expansion and contraction, providing the variation in satellite copy number that is the raw material of centromere drive. Centromere breaks at replication, rather than errors at mitosis, can account for most centromere misdivisions that underlie aneuploidies in cancer.","PeriodicalId":50698,"journal":{"name":"Chromosome Research","volume":"33 1","pages":"17"},"PeriodicalIF":2.8,"publicationDate":"2025-08-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12321929/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144785877","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

Sterility and structural variation in an arabidopsis pedigree carrying a ring minichromosome. 携带环状小染色体的拟南芥系谱的不育性和结构变异。

IF 2.8 4区生物学

Chromosome Research Pub Date : 2025-08-01 DOI: 10.1007/s10577-025-09776-0

Benny Ordoñez, Weier Guo, Witsarut Chueakhunthod, Isabelle M Henry, Luca Comai

{"title":"Sterility and structural variation in an arabidopsis pedigree carrying a ring minichromosome.","authors":"Benny Ordoñez, Weier Guo, Witsarut Chueakhunthod, Isabelle M Henry, Luca Comai","doi":"10.1007/s10577-025-09776-0","DOIUrl":"10.1007/s10577-025-09776-0","url":null,"abstract":"Circular minichromosomes could be useful tools for plant biotechnology, yet their long-term structural stability, heritability, and effects on phenotype remain poorly understood. In this study, we report a multi-generational analysis of the Arabidopsis mini1a ring minichromosome, which originated from the chromosome 1 centromere in a haploid induction cross. Is mini1a unstable, as suggested by classical studies on other ring chromosomes? Using whole-genome sequencing of individuals carrying mini1a representing multiple successive generations, we uncovered a major catastrophe driven by DNA breaks and novel junction formation, resulting in a new version of mini1a, that carries a 1.3 Mb deletion in the centromeric region (mini1aΔ). We identified 20 new breakpoints, of which 7 disrupted gene bodies-a frequency unlikely to occur by chance. Interestingly, both mini1a and mini1aΔ could exist in one or two copies and could co-exist in a single plant. Although they were inherited efficiently, their presence was sometimes associated with plant sectors with 100% sterility. These findings highlight the structural plasticity of mini1a. At the same time, they raise questions regarding the mechanisms underlying the observed reduced plant fertility. In summary, circular minichromosomes can be deleterious and biotechnology applications based on the manipulation of minichromosomes will require careful planning and testing.","PeriodicalId":50698,"journal":{"name":"Chromosome Research","volume":"33 1","pages":"16"},"PeriodicalIF":2.8,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12316722/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144762183","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

A brief historical perspective on cell cycle control of CENP-A assembly and inheritance. 细胞周期控制的简史回顾：CENP-A组装和遗传。

IF 2.8 4区生物学

Chromosome Research Pub Date : 2025-07-26 DOI: 10.1007/s10577-025-09774-2

Grant Rowley, Lars E T Jansen

{"title":"A brief historical perspective on cell cycle control of CENP-A assembly and inheritance.","authors":"Grant Rowley, Lars E T Jansen","doi":"10.1007/s10577-025-09774-2","DOIUrl":"10.1007/s10577-025-09774-2","url":null,"abstract":"Centromeres provide the chromosomal scaffold for the assembly of the kinetochore complex, thereby linking replicated sister chromatids to the mitotic spindle, driving their segregation into nascent daughter cells. The location and maintenance of centromeres rely, in large part, on a unique conserved chromatin domain, defined by nucleosomes containing the histone H3 variant, Centromere Protein A (CENP-A), whose discovery 40 years ago we now celebrate. Current models place CENP-A, along with many of its orthologs, at the centre of a self-propagating epigenetic feedback loop that heritably maintains centromere position through mitotic and meiotic divisions. CENP-A is stably recycled through DNA replication but requires replenishment each cell cycle. In many organisms, assembly is restricted to G1 phase, indicating tight cell cycle control of the assembly machinery. Here, we provide a historical overview of the discoveries that led to current models of cell cycle control of centromere assembly, starting with early models of regulation to the intricate, multi-layered phosphoregulation revealed to date. Our review focuses primarily on the human and other animal systems, in which the current view is that negative and positive control through cyclin-dependent kinases and Polo-like kinase 1 combine to link CENP-A assembly to mitotic exit. Cell cycle-coupled CENP-A assembly has been attributed to so-called licensing or priming events. We discuss the validity of these models and terminology and highlight key outstanding questions that remain unanswered.","PeriodicalId":50698,"journal":{"name":"Chromosome Research","volume":"33 1","pages":"15"},"PeriodicalIF":2.8,"publicationDate":"2025-07-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12296988/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144735091","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

Centromeres in the thermotolerant yeast K. marxianus mediate attachment to a single microtubule. 耐热酵母K. marxianus中的着丝粒介导对单个微管的附着。

IF 2.4 4区生物学

Chromosome Research Pub Date : 2025-07-03 DOI: 10.1007/s10577-025-09772-4

Daniel J Barrero, Sabrine Hedouin, Yizi Mao, Charles L Asbury, Andrew B Stergachis, Eileen O'Toole, Sue Biggins

{"title":"Centromeres in the thermotolerant yeast K. marxianus mediate attachment to a single microtubule.","authors":"Daniel J Barrero, Sabrine Hedouin, Yizi Mao, Charles L Asbury, Andrew B Stergachis, Eileen O'Toole, Sue Biggins","doi":"10.1007/s10577-025-09772-4","DOIUrl":"10.1007/s10577-025-09772-4","url":null,"abstract":"Eukaryotic chromosome segregation requires spindle microtubules to attach to chromosomes through kinetochores. The chromosomal locus that mediates kinetochore assembly is the centromere and is epigenetically specified in most organisms by a centromeric histone H3 variant called CENP-A. An exception to this is budding yeast, which have short, sequenced-defined point centromeres. In S. cerevisiae, a single CENP-A nucleosome is formed at the centromere and is sufficient for kinetochore assembly. The thermophilic budding yeast Kluyveromyces marxianus also has a point centromere, but its length is nearly double the S. cerevisiae centromere and the number of centromeric nucleosomes and kinetochore attachment sites is unknown. Purification of native kinetochores from K. marxianus yielded a mixed population, with one subpopulation that appeared to consist of doublets, making it unclear whether K. marxianus shares the same attachment architecture as S. cerevisiae. Here, we demonstrate that though the doublet kinetochores have a functional impact on kinetochore strength, kinetochore localization throughout the cell cycle appears conserved between these two yeasts. In addition, whole spindle electron tomography demonstrates that a single microtubule binds to each chromosome. Single-molecule nucleosome mapping analysis suggests the presence of a single centromeric nucleosome. Taken together, we propose that the K. marxianus point centromere assembles a single centromeric nucleosome that mediates attachment to one microtubule.","PeriodicalId":50698,"journal":{"name":"Chromosome Research","volume":"33 1","pages":"14"},"PeriodicalIF":2.4,"publicationDate":"2025-07-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12226651/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144555636","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

CENP-A and centromere evolution in equids. 马科动物的CENP-A与着丝粒进化。

IF 2.4 4区生物学

Chromosome Research Pub Date : 2025-06-30 DOI: 10.1007/s10577-025-09773-3

Eleonora Cappelletti, Francesca M Piras, Marialaura Biundo, Rebecca R Bellone, Carrie J Finno, Ted S Kalbfleisch, Jessica L Petersen, Solomon G Nergadze, Elena Giulotto

{"title":"CENP-A and centromere evolution in equids.","authors":"Eleonora Cappelletti, Francesca M Piras, Marialaura Biundo, Rebecca R Bellone, Carrie J Finno, Ted S Kalbfleisch, Jessica L Petersen, Solomon G Nergadze, Elena Giulotto","doi":"10.1007/s10577-025-09773-3","DOIUrl":"10.1007/s10577-025-09773-3","url":null,"abstract":"While the centromeric function is conserved and epigenetically specified by CENP-A, centromeric DNA, typically composed of satellite repeats, is highly divergent and rapidly evolving. In the species of the genus Equus (horses, asses and zebras), also known as equids, the numerous centromeres devoid of satellite repeats enabled us to carry out molecular analysis of centromeric chromatin establishing a unique model system for mammalian centromere biology. In this review, after a brief description of the rapid evolution of equids, we outline one of our most relevant initial discoveries: the position of CENP-A binding domains is variable among individuals giving rise to epialleles which are inherited as Mendelian traits. This positional variability was recently confirmed in human centromeres whose repetitive DNA organization could be analyzed thanks to telomere-to-telomere (T2T) genome assemblies. Another unexpected observation was that, in equids, CENP-B does not bind the centromeric core and is uncoupled from CENP-A and CENP-C. CENP-B is absent from the majority of chromosomes while the CENP-B binding DNA sequence (CENP-B box) is comprised within a satellite that is localized at pericentromeric or terminal positions. Finally, comparative molecular and cytogenetic analyses of satellite-free centromeres revealed that the birth of neocentromeres during the evolution of this genus occurred through two alternative mechanisms: centromere repositioning and Robertsonian fusion. These events played a key role in karyotype reshuffling and speciation. Investigating centromere organization in equids provided new insights into the complexity of centromere organization across the vast biodiversity of the mammalian world, where the majority of species remain understudied.","PeriodicalId":50698,"journal":{"name":"Chromosome Research","volume":"33 1","pages":"13"},"PeriodicalIF":2.4,"publicationDate":"2025-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12208984/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144530903","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

Low-coverage whole-genome sequencing for differentiating cervical cancer from cervical intraepithelial neoplasia and benign diseases. 低覆盖率全基因组测序鉴别宫颈癌与宫颈上皮内瘤变及良性疾病。

IF 2.4 4区生物学

Chromosome Research Pub Date : 2025-06-20 DOI: 10.1007/s10577-025-09770-6

Tingting Zhang, Fang Gu, Jia Yi He, Weihua Li, Ruxue Han, Xinyu Liu, Chan Dai, Zhendong Qin, Di Zhang, Jun Lu, Hua Li

{"title":"Low-coverage whole-genome sequencing for differentiating cervical cancer from cervical intraepithelial neoplasia and benign diseases.","authors":"Tingting Zhang, Fang Gu, Jia Yi He, Weihua Li, Ruxue Han, Xinyu Liu, Chan Dai, Zhendong Qin, Di Zhang, Jun Lu, Hua Li","doi":"10.1007/s10577-025-09770-6","DOIUrl":"10.1007/s10577-025-09770-6","url":null,"abstract":"Objectives: This study aimed to analyze chromosomal arm-level copy number variations (CNVs) in benign diseases, cervical intraepithelial neoplasia (CIN), and cervical cancer (CC) using low-coverage whole genome sequencing (LC-WGS) and evaluate the efficacy of the ultrasensitive chromosomal aneuploidy detector (UCAD) model in distinguishing CC from CIN and benign diseases.Methods: Cervical exfoliated cell specimens from 50 patients were collected for high-risk human papillomavirus(hr-HPV) testing, ThinPrep Cytologic Test (TCT), and CNV detection via LC-WGS. UCAD was employed to analyze chromosomal changes, with validation using WGS data from the National Center for Biotechnology Information(NCBI) database.Results: Among 50 patients, 8 had benign disease, 3 CIN1, 15 CIN2, 6 CIN2-3, 13 CIN3, and 5 CC. Chromosomal instability was detected in 9 patients (18%): all 5 CC cases, 3 CIN3 cases, and 1 CIN1 case. Gains in 3q were observed in all CC and CIN3 cases with CNVs. UCAD achieved 100% sensitivity and 91.11% specificity in differentiating CC from CIN and benign diseases, outperforming hr-HPV and TCT. The UCAD model was also applied to 5 CC and 1 high-grade squamous intraepithelial lesion (HSIL) cases obtained from the NCBI database, and the findings validated its ability to detect chromosomal aberrations in all cases.Conclusions: CNV analysis of cervical exfoliated cells shows promise for CC detection, with UCAD demonstrating high accuracy. Further validation in larger cohorts is needed to confirm its clinical utility.","PeriodicalId":50698,"journal":{"name":"Chromosome Research","volume":"33 1","pages":"12"},"PeriodicalIF":2.4,"publicationDate":"2025-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12181114/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144334383","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