Cytogenetic and Genome Research最新文献

{"title":"Post-translational modifications of the Werner syndrome protein WRN.","authors":"Amrita Machwe, David K Orren","doi":"10.1159/000547163","DOIUrl":"https://doi.org/10.1159/000547163","url":null,"abstract":"<p><strong>Background: </strong>Werner syndrome has been an excellent model for the study of human aging, and how chromosomal instability is related to phenotypes of normal aging including cancer. George Martin devoted his life to the study of Werner syndrome and human aging, and this review is dedicated to his memory.</p><p><strong>Summary: </strong>In this review, we highlight the post-translational modifications of WRN, the protein whose function is lacking in individuals with Werner syndrome. WRN is subject to phosphorylation, acetylation, ubiquitination and SUMOylation.</p><p><strong>Key messages: </strong>These modifications of WRN control its localization and function in the response to replication fork stress and repair of double-strand breaks that are a consequence of this stress.</p>","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":" ","pages":"1-10"},"PeriodicalIF":1.7,"publicationDate":"2025-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144552594","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}

{"title":"Clustered structural variants involving PHEX at Xp22 in a female patient with X-linked hypophosphatemia.","authors":"Erika Uehara, Yasuhiro Naiki, Atsushi Hattori, Maki Fukami, Keiko Matsubara","doi":"10.1159/000547186","DOIUrl":"https://doi.org/10.1159/000547186","url":null,"abstract":"<p><strong>Introduction: </strong>X chromosomal structural changes involving PHEX result in X-linked hypophosphatemia (XLH). However, their underlying mechanisms were poorly determined. Moreover, X chromosome inactivation (XCI) statuses in female patients with XLH remain to be studied.</p><p><strong>Case presentation: </strong>We conducted systematic genomic analyses for a woman with XLH and detected a 3.2 Mb tandem duplication at Xp22.33, a 1.9 Mb tandem duplication at Xp22.31, and a 0.8 Mb deletion involving PHEX at Xp22.11 on the paternally derived chromosome. The fusion junctions contained templated insertions and short nucleotide additions indicative of non-homologous end joining (NHEJ) or alternative-NHEJ. The patient had random XCI.</p><p><strong>Conclusion: </strong>This study provides evidence that PHEX haploinsufficiency leads to typical XLH in women with random XCI and that a 5.9 Mb rearrangement on Xp22 permits random XCI. Our results, together with previous findings, imply that clustered structural changes due to NHEJ/alternative-NHEJ are a unique type of human genomic rearrangements.</p>","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":" ","pages":"1-14"},"PeriodicalIF":1.7,"publicationDate":"2025-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144552593","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}

{"title":"Erratum.","authors":"","doi":"10.1159/000546684","DOIUrl":"https://doi.org/10.1159/000546684","url":null,"abstract":"","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":" ","pages":"72"},"PeriodicalIF":1.7,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144539509","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}

{"title":"Establishment of Cell Cultures from the Cavefish Astyanax mexicanus: A Resource for in vitro Studies of Supernumerary B Chromosome Biology.","authors":"João Pedro Silva Climaco, Cesar Martins, Adauto Lima Cardoso","doi":"10.1159/000546231","DOIUrl":"10.1159/000546231","url":null,"abstract":"<p><strong>Introduction: </strong>Supernumerary B chromosomes have been extensively investigated using diverse in vivo approaches, revealing insights into their origin, nature, evolutionary dynamics, maintenance mechanisms, and effects on their carriers. Despite its broad applicability across various biological research fields, in vitro cell culture remains underexplored as a tool for studying B chromosome biology, with studies limited to using cell cultures only as a source of chromosome preparations.</p><p><strong>Methods: </strong>In the present study, cell cultures of the fish Astyanax mexicanus were established, with (AMEcfB) and without (AMEcf) the B chromosome, using caudal fin tissue collected through nonlethal procedures. These cultures were compared in terms of cell proliferation and in response to environmental stress (pH and temperature) using the MTT and RT-qPCR assay.</p><p><strong>Results: </strong>The AMEcf and AMEcfB cell lines exhibited karyotypic stability and high proliferative potential, demonstrating their suitability for diverse scientific applications. The B chromosome, found exclusively in a subpopulation of AMEcfB cells, influenced cell physiology by affecting cell division dynamics. Experiments under extreme pH and temperature conditions revealed differences in cell viability and gene expression between the two lines, highlighting the role of the B chromosome in modulating environmental responses.</p><p><strong>Conclusion: </strong>These findings align with previous reports on the effects of B chromosomes in living organisms. Thus, the A. mexicanus cell cultures established here represent a promising resource for investigations into B chromosome biology, offering significant ethical, economic, and methodological advantages.</p>","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":" ","pages":"59-69"},"PeriodicalIF":1.7,"publicationDate":"2025-06-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144301348","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}

{"title":"ACAN Repeat Number Polymorphism in Patients with Idiopathic Short Stature.","authors":"Sayuri Nakamura, Yoko Kuroki, Kyongsun Pak, Tsutomu Kamimaki, Takahiro Mochizuki, Akira Ishiguro, Maki Fukami","doi":"10.1159/000545736","DOIUrl":"https://doi.org/10.1159/000545736","url":null,"abstract":"<p><strong>Introduction: </strong>Idiopathic short stature (ISS) refers to non-syndromic growth failure without chronic disorders. The molecular basis of ISS remains largely unknown. Although a variable number of tandem repeats (VNTR) of 57 nucleotides in ACAN is known to correlate with the height of people in the general population, the role of this genetic variant in the etiology of ISS has not been studied.</p><p><strong>Methods: </strong>We studied 128 Japanese patients with ISS, including 63 patients with prenatal and postnatal growth failure (small-for-gestational age-SS, SGA-SS), and 100 control individuals. To examine the repeat numbers of ACAN VNTR, we amplified the VNTR-containing genomic region and analyzed the PCR products by gel electrophoresis. The accuracy of the results was confirmed by long-read next-generation sequencing.</p><p><strong>Results: </strong>The repeat numbers of the patient group were similarly distributed to those of the control group, and no patient had a very small number. Moreover, the repeat numbers of the shorter and longer alleles in each individual, as well as the average number of the two alleles, were comparable between the two groups. The height standard deviation scores obtained from 106 patients did not correlate with the repeat numbers. There was no difference in the repeat numbers between the SGA-SS or non-SGA ISS groups, and the control group.</p><p><strong>Conclusion: </strong>The results of this study indicate that reduced repeat numbers of ACAN VNTR do not represent a monogenic cause or a major contributing factor for ISS. Our findings await further validation.</p>","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":" ","pages":"1-14"},"PeriodicalIF":1.7,"publicationDate":"2025-06-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144301347","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}

{"title":"Localization of rDNA-associated retrotransposons refines the heterochromatin map of the X chromosome in Drosophila melanogaster.","authors":"Tatyana D Kolesnikova, Olga V Veselova, Galina V Pokholkova, Veit Schubert, Mikhail S Klenov","doi":"10.1159/000546918","DOIUrl":"https://doi.org/10.1159/000546918","url":null,"abstract":"<p><strong>Introduction: </strong>R1 and R2 retrotransposons specifically integrate into 28S rRNA genes, thereby disrupting many rDNA units within the nucleolar organizer region (NOR) of Drosophila. However, they also appear to play mutualistic roles, contributing to the maintenance of rDNA copy number and the regulation of nucleolar dominance. In addition to their presence in nucleolar rDNA, R1 elements are strongly enriched in the pericentromeric heterochromatin of the X chromosome, located distal to the NOR. This enrichment coincides with several enigmatic genetic phenomena-such as the ABO and cr phenotypes-whose molecular basis remains poorly understood. Notably, this region is one of the least characterized domains of the D. melanogaster genome, lying outside the reference assembly and unresolved in metaphase chromosome preparations.</p><p><strong>Methods: </strong>We performed cytological mapping of R1 and R2 retrotransposons in D. melanogaster heterochromatin using polytene chromosomes from Rif11 mutant, which suppresses under-replication of all types of heterochromatic sequences. These were combined with classical eu-heterochromatic inversions of the X chromosome.</p><p><strong>Results and conclusions: </strong>We identified distinct clusters of both R1 and R2 elements within the X chromosome heterochromatin outside the NOR. R1 elements are highly enriched in the region between the heterochromatic Stellate (hSte) gene cluster and the NOR. This zone exhibits a unique response to Su(var)3-9 mutations, characterized by pronounced decondensation and the formation of a pseudo-puff. Proximal to the R1-enriched domain and adjacent to hSte cluster, we observed a region enriched in R2 elements. The edges of the NOR also show R2 enrichment, likely corresponding to intra-nucleolar domains that accumulate transcriptionally inactive rDNA units. In contrast, nucleolar R1 elements-which also mark inactive rDNA units-are more evenly distributed across the entire NOR. Based on these findings, we propose a refined cytological map of X chromosome heterochromatin in D. melanogaster.</p>","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":" ","pages":"1-20"},"PeriodicalIF":1.7,"publicationDate":"2025-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144282833","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}

{"title":"Meiosis in hybrids: looking for the order in disorder.","authors":"Irina Bakloushinskaya, Sergey Matveevsky","doi":"10.1159/000546658","DOIUrl":"https://doi.org/10.1159/000546658","url":null,"abstract":"<p><strong>Background: </strong>The study of gametogenesis in hybrids between intraspecific chromosomal forms or distinct species is mainly aimed at identifying the successful outcome of the process to produce balanced viable gametes. At the same time, deviations from typical meiotic progression patterns may provide a pivotal mechanism for speciation.</p><p><strong>Summary: </strong>The long history of studying the process of gametogenesis and the development of methodological approaches have helped to clarify the cytological and molecular processes that occur during meiosis. Since the early 1980s, Prof. Oxana Kolomiets has been studying meiosis in various species, including mole voles Ellobius, with a focus on chromosome synapsis and other key events during prophase I. Research on hybrids from different chromosomal forms of mole voles has uncovered notable differences in how meiosis progresses and its impact on fertility. In cases where Robertsonian translocations exhibit incomplete homology, various chromosomal multivalents form during prophase I. These configurations are often so complex that the chance of producing balanced gametes appears minimal. Moreover, there were also variations in the formation of trivalents. These discrepancies are thought to arise due to the involvement of distinct chromosomes in Robertsonian translocations, which lead to alterations in the spatial structure of the nucleus. Autosomes and sex chromosomes can exhibit disparities in trajectories of movement, synapsis, and recombination in meiosis. These disparities manifest most distinctly in hybrids, where atypical interchromosomal interactions, including those between sex chromosomes and autosomes, occur. Such interactions are absent in normal meiocytes, highlighting the altered meiotic processes in hybrids.</p>","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":" ","pages":"1-29"},"PeriodicalIF":1.7,"publicationDate":"2025-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144198462","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}

{"title":"Fertility cost (or sometimes a lack of it) in relation to heterozygosity for Robertsonian rearrangements in mammals: a review.","authors":"Jeremy B Searle, Jonathan J Hughes","doi":"10.1159/000546385","DOIUrl":"https://doi.org/10.1159/000546385","url":null,"abstract":"<p><strong>Background: </strong>Robertsonian (Rb) chromosomal rearrangements are very common in mammals and are the primary basis of chromosome number variation between species. The fertility of heterozygotes has particular significance in understanding the mode of fixation of Rb rearrangements, and could have a role in the attainment of reproductive isolation by chromosomally differentiated species.</p><p><strong>Summary: </strong>Here we survey available data on fertility of Rb heterozygotes in mammals, comparing with homozygotes, and considering effects on litter size, frequencies of anaphase I nondisjunction, germ cell death and pachytene features associated with that germ cell death. We consider both simple heterozygotes which form trivalent configurations at meiosis I and complex heterozygotes which form longer configurations due to heterozygosity for different chromosomes with monobrachial homology. Two species have a particularly wide variety of Rb heterozygotes and have been well studied: the house mouse (the western subspecies) and the common shrew. The overall data confirm that heterozygosity for a single Rb metacentric may be associated with near-normal fertility in mammals; though not in every instance. Usually infertility is not going to be a substantial hindrance to fixation of Rb fusions or fissions. Nor is infertility in simple heterozygotes for one or a few Rb metacentrics on its own likely to promote reproductive isolation. However, simple heterozygotes forming many meiotic trivalents and complex heterozygotes forming long meiotic configurations may suffer substantial infertility or sterility. Even so, heterozygous house mice and common shrews forming the very longest meiotic chains and rings may produce some young. We discuss the implications of these findings with regards the role of Rb rearrangements in speciation.</p><p><strong>Key messages: </strong>Infertility due to Rb heterozygosity on its own may rarely hinder fixation of Rb rearrangements nor be sufficient to cause a complete interruption to gene flow between hybridizing chromosomal forms. However, this does not rule out a role for Rb rearrangements in speciation. Reinforcement is possible and Rb rearrangements have the potential to act in synergy with genic incompatibilities to promote reproductive isolation. There can also be the contrary process of despeciation. Natural selection may respond in various ways to a given degree of infertility.</p>","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":" ","pages":"1-50"},"PeriodicalIF":1.7,"publicationDate":"2025-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144198461","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}

{"title":"Erratum.","authors":"","doi":"10.1159/000545515","DOIUrl":"https://doi.org/10.1159/000545515","url":null,"abstract":"","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":" ","pages":"1"},"PeriodicalIF":1.7,"publicationDate":"2025-05-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144076737","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}

{"title":"Jumping Translocation of 3q in a Patient with Mantle Cell Lymphoma: A Case Report and Review of the Literature.","authors":"Elisavet Kouvidi, Georgios Boutsikas, Theofanis Giannikos, Marina Kalomoiraki, Ioanna Haralampous, Dimitra Boulari, Maria Dandoulaki, Maria Roumelioti, Paschalina Pallaki, Ioannis Anagnostopoulos","doi":"10.1159/000546297","DOIUrl":"10.1159/000546297","url":null,"abstract":"<p><strong>Introduction: </strong>Jumping translocations are rare cytogenetic events in hematologic malignancies, involving nonreciprocal translocation of a donor chromosome onto two or more recipient chromosomes.</p><p><strong>Case presentation: </strong>In this paper, we report the first-ever case of a jumping translocation involving the long arm of chromosome 3 in a patient with mantle cell lymphoma. The basic clone had the translocation t(11;14)(q13;q32) and a der(13)t(3;13)(q12;p11), and the three subclones had an additional jumping translocation, involving the translocation of 3q12 onto recipient chromosomes 14p, 15p, and der(14)t(11;14), thus resulting in partial trisomy and tetrasomy 3q.</p><p><strong>Conclusion: </strong>Although the underlying mechanism for the formation of jumping translocations is not well understood, their presence is usually associated with poor prognosis and clonal evolution and additional data are needed for their better clinical management.</p>","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":" ","pages":"1-8"},"PeriodicalIF":1.7,"publicationDate":"2025-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143995080","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}