Cytogenetic and Genome Research最新文献

{"title":"Genetic and epigenetic insights into Werner Syndrome.","authors":"Elena Paccosi, Diletta Guzzon, Luca Proietti-De-Santis","doi":"10.1159/000544118","DOIUrl":"https://doi.org/10.1159/000544118","url":null,"abstract":"<p><strong>Background: </strong>Werner syndrome is an autosomal recessive disorder characterized by premature aging and cancer predisposition, caused by loss of function mutations in WRN gene. To date, more than 70 different pathogenic variants have been identified across the WRN locus, with an increasing number of newly reported mutations. Even if the clinical phenotypes of WS seem to be indistinguishable among the different WRN mutation types, a certain genotype/phenotype correlation has been identified, especially regarding the predisposition to certain type of malignant disease. Along this line, the knowledge of the genetic aspects related to WRN is a fascinating land still object of intensive studies. Summary and key messages: This review discusses both the genetics and epigenetic regulation of WRN gene, with a special focus on the pathogenic variants that have been identified in the WRN locus across different populations. Indeed, we think that investigating these aspects is the basis starting from which is it possible to depict WRN role in aging and cancer development processes, with the final goal of opening new perspectives for future therapeutic strategies directed to the treatment not only of this syndrome, for which, to date, there is no cure, but also of many types of malignant diseases and all those disturbs related to the physiological aging.</p>","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":" ","pages":"1-28"},"PeriodicalIF":1.7,"publicationDate":"2025-02-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143432322","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":"Oxana L. Kolomiets: 42 Years at the Forefront of Meiotic Chromosome Study.","authors":"Sergey N Matveevsky, Tatiana M Grishaeva, Victor E Spangenberg, Igor S Mazheika, Yuri F Bogdanov","doi":"10.1159/000544096","DOIUrl":"https://doi.org/10.1159/000544096","url":null,"abstract":"<p><p>Obituary for the special issue \"Chromosomal and Cellular Insights into Sexual Reproduction and Evolution\", dedicated to Professor Oxana Kolomiets.</p>","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":" ","pages":"1-14"},"PeriodicalIF":1.7,"publicationDate":"2025-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143390266","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":"Complex Congenital Cardiac Defect Associated with the Combination of 5p Deletion and 4q Duplication in a Newborn: A Case Report.","authors":"Ülkü Nur Kırman, Ferid Aliyev, Merve Soğukpınar, Pelin Özlem Şimşek Kiper, Hayrettin Hakan Aykan, Hasan Tolga Çelik","doi":"10.1159/000543591","DOIUrl":"10.1159/000543591","url":null,"abstract":"<p><strong>Introduction: </strong>Congenital cardiac defects are defined in cases with the deletion of the short arm of chromosome 5 and the duplication of the long arm of chromosome 4. Septal defects and patent ductus arteriosus are among the most common defects reported in the literature.</p><p><strong>Case presentation: </strong>We reported on a case with a complex congenital cardiac defect, dysmorphic facial features, cat-like cry, hypotonia, hyporeflexia, weak swallowing and sucking, limb anomalies, and bilateral undescended testicles. A chromosomal microarray (CMA) revealed a duplication of chromosome 4q26q35.2 and a deletion of chromosome 5p15.33p14.3, originating from the balanced maternal translocation 46,XX,t(4;5)(q27;pter). Our patient showed clinical characteristics compatible with both deletion of 5p and duplication of 4q.</p><p><strong>Conclusion: </strong>We reported a case with a rare chromosomal rearrangement. Similarities and differences between the cases in the literature are discussed. CMA is important to detect multiple copy number variations and genes may be involved. Studies are needed to investigate the genetic and/or epigenetic causes resulting in the clinical findings seen in the combination of deletion of chromosome 5p and duplication of chromosome 4q.</p>","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":" ","pages":"1-8"},"PeriodicalIF":1.7,"publicationDate":"2025-01-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143001896","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":"Revealing the satellite DNA content in Ancistrus sp. (Siluriformes: Loricariidae) by genomic and bioinformatic analysis.","authors":"Gabriel Esbrisse Dos Santos, C. Crepaldi, M. J. da Silva, P. P. Parise-Maltempi","doi":"10.1159/000538926","DOIUrl":"https://doi.org/10.1159/000538926","url":null,"abstract":"Introduction Eukaryotic genomes consist of both single and repetitive sequences, including Satellite DNAs (satDNA), which are non-coding sequences arranged in tandem arrays. These sequences play a crucial role in genomic functions and innovations, influencing processes such as nuclear material maintenance, heterochromatin formation, and sex chromosome differentiation. In this genomic era, advancements in next-generation sequencing and bioinformatic tools have facilitated the comprehensive cataloging of repetitive elements in genomes, particularly in non-model species. This study focuses on the satellitome of Ancistrus sp., a diverse fish species within the Loricariidae family. The genus Ancistrus displays significant karyotypic evolution, with deviations from the ancestral diploid number. Methods Using bioinformatic approaches, we identified 40 satellite DNA families in Ancistrus sp., constituting 5.19% of the genome. The abundance and divergence landscape analysis revealed diverse profiles, indicating recent amplification and homogenization of these satDNA sequences. Results The most abundant satellite, AnSat1-142, constitutes 2.1% of the genome, while the least abundant, AnSat40-52, represents 0.0034%. The monomer repeat length ranges from 16 to 142 base pairs, with an average length of 61 bp. These findings contribute to understanding the genomic dynamics and evolution of satDNAs in Ancistrus sp. Conclusion The study underscores the variability in satDNAs among fish species and provides valuable insights into the chromosomal organization and evolution of repetitive elements in non-model organisms.","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":" 37","pages":""},"PeriodicalIF":1.7,"publicationDate":"2024-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140692272","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":"In silico Characterization of Satellitomes and Cross-Amplification of Putative satDNAs in Two Species of the Hypostomus ancistroides Complex (Siluriformes, Loricariidae).","authors":"Dinaíza Abadia Rocha-Reis, Igor Henrique Rodrigues-Oliveira, Rubens Pasa, Fabiano Bezerra Menegídio, John Seymour Pat Heslop-Harrison, Trude Schwarzacher, Karine Frehner Kavalco","doi":"10.1159/000539429","DOIUrl":"10.1159/000539429","url":null,"abstract":"<p><strong>Introduction: </strong>The mapping of the satellite DNA on chromosomes is vital to understanding the distribution and evolution of repetitions in the genome since these chromosomal studies have shown the origin, evolutionary mode, and function of repetitive sequences. This study aimed to prospect the satellitome and determine its location in the genome of two cryptic species of Hypostomus, H. aff. ancistroides and H. ancistroides, with and without XX/XY sexual chromosome system.</p><p><strong>Methods: </strong>Mitotic chromosomes and DNA extraction were obtained according to protocols. After the whole genome sequencing, the satDNAs were retrieved, amplified, and hybridized in chromosome preparations for male and female individuals.</p><p><strong>Results: </strong>We found 30 satellite families (47 variants, two superfamilies) in H. ancistroides and 38 satellite families (45 variants, four superfamilies) in H. aff. ancistroides. The sequences varied from 14 bp to 2,662 bp in H. ancistroides and from 14 bp to 2,918 bp in H. aff. ancistroides. We did not observe any tandem repeats that were exclusive to each of the libraries; however, many sequences showed very different abundances and copy numbers between the libraries. Four satDNAs did not hybridize on the chromosomes of either species. Conversely, one satDNA hybridized in both species, HxySat1-80. However, the phenotypes found varied among species, populations, and in the same individual. There was no sign of HanSat3-464 and HanSat11-335 in any individuals of H. aff. ancistroides, but markings were in the chromosomes of H. ancistroides. HxySat12-1127 and HxySat8-52, on the other hand, were only hybridized in H. aff. ancistroides, while H. ancistroides had a negative sign. No hybridization of satDNAs was found in the X and Y sex chromosomes as they were mostly composed of euchromatin.</p><p><strong>Conclusion: </strong>We distinguish H. aff. ancistroides as genetically different from H. ancistroides, recognizing that such characteristics go far beyond morphological, karyotypic, and molecular data. Our data support the differential abundance and location of satellite DNAs and confirm that many organisms, including fish, have repetitive sequences that validate the library hypothesis. All found and validated satDNAs and the characterization of the satellitomes of the two species represent important contributions to cytogenomic studies of the genus Hypostomus.</p>","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":" ","pages":"121-132"},"PeriodicalIF":1.7,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141855090","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":"[Runs of Homozygosity Decipher Genetic Diversity in Cattle Breed Dwelling in the Colder Regions of the World].","authors":"Karan Mahar, Rangasai Chandra Goli, Kiyevi G Chishi, Indrajit Ganguly, S P Dixit, Sanjeev Singh, Sonu Choudhary, Pallavi Rathi, Chandana Sree Chinnareddyvari, Vikas Diwakar, Muralidhar Metta, Immanual Gilwax Prabhu, Amit Kumar, Soumajit Sarkar, Nidhi Sukhija, Kanaka Krishnamurthy Kareningappa","doi":"10.1159/000541723","DOIUrl":"10.1159/000541723","url":null,"abstract":"<p><strong>Background: </strong>Our study focuses on Yakutian cattle, a Siberian native breed, examining its inbreeding and diversity through genome-wide analysis of runs of homozygosity (ROHs). Yakutian cattle are adapted to Siberia's harsh sub-arctic conditions, enduring temperatures below -70°C. However, the population genetics studies on this breed are scanty, to document the genetic uniqueness in these cattle.</p><p><strong>Results: </strong>We analyzed 40 Yakutian cattle with strict quality control for ROH detection yielding 683 homozygous segments, averaging 17 per individual with an average length of 9 Mb. ROH regions were found to be involved in important pathways pertaining to cold adaptation. Autozygosity ranged from 1% to 12% of the genome, with a relatively low average inbreeding coefficient (FROH) of 0.057, as compared to other breeds. Also, the different diversity indicators, namely, principal component analysis, heterozygosity, and effective population size analysis, revealed the prevalence of genetic diversity within the breed.</p><p><strong>Conclusion: </strong>Our findings on ROH are the first of its kind in Yakutian cattle that support their adaptability to colder environments, as evidenced by low inbreeding and high genetic diversity.</p>","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":" ","pages":"154-164"},"PeriodicalIF":1.7,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142380260","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":"Delineating the W Sex Chromosome in the Clam Shrimp, Eulimnadia texana.","authors":"Chathumadavi Ediriweera, Stephen C Weeks","doi":"10.1159/000542284","DOIUrl":"10.1159/000542284","url":null,"abstract":"<p><strong>Introduction: </strong>Sex chromosomes have evolved independently across various lineages, often showing convergent degradation of the sex-limited chromosome. While extensively studied in model organisms with ancient sex chromosomal systems, the evolution of early-stage sex chromosomes remains poorly understood. Eulimnadia texana, a freshwater crustacean with a unique androdioecious breeding system (ZZ, ZW, and viable WW genotypes), provides a rare opportunity to study early sex chromosome evolution. This study examines E. texana's W chromosome for evidence of a small localized non-recombining region, characterized by a transposable element (TE) \"hotspot,\" low gene density, and low GC content.</p><p><strong>Methods: </strong>Sex-linked markers were mapped onto the W chromosome (scaffold 1). TEs in the WW genome were identified using RepeatModeler and RepeatMasker. Statistical analyses compared TE distribution between the genome and scaffold 1, which was then divided into 20 equal-sized \"bins\" for finer-scale statistical analyses. Gene density and GC content were analyzed across these bins.</p><p><strong>Results: </strong>While no significant TE accumulation was found across the entire W chromosome compared to the remaining genome, a specific region (6.6-8.8 Mb, fourth bin) showed significantly higher TE accumulation. This region also exhibited low gene density and low GC content, indicative of reduced recombination.</p><p><strong>Conclusion: </strong>Our findings suggest that E. texana's W chromosome contains a smaller region of crossover suppression, supporting the hypothesis that it is a proto-sex chromosome in early evolutionary development. This study provides valuable insights into early sex chromosome evolution and establishes E. texana as an ideal model for further investigation of evolutionary processes driving proto-sex chromosome differentiation.</p>","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":" ","pages":"257-266"},"PeriodicalIF":1.7,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142521342","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":"Identification of Key Genes and Drug Recommendations in Diffuse Large B-Cell Lymphoma Based on Analysis of Glutathione-Related Genes.","authors":"Yu Ren, Aijun He","doi":"10.1159/000542722","DOIUrl":"10.1159/000542722","url":null,"abstract":"<p><strong>Background: </strong>Various malignancies can be efficiently combated by focusing on glutathione. It is unclear how glutathione-related genes link to diffuse large B-cell lymphoma (DLBCL).</p><p><strong>Methods: </strong>Clinical information was gathered from DLBCL patients, and differences in glutathione-related differentially expressed genes (DEGs) between DLBCL and healthy groups were found. Enrichment analysis was run on the DEGs associated with glutathione. We discovered hub genes in glutathione, confirmed hub genes' capacity for diagnosis and function prediction, and estimated drug sensitivity. Immune microenvironmental variations between healthy and DLBCL people were assessed, and hub genes for transcription factor (TF) targeting and miRNAs were found.</p><p><strong>Results: </strong>The glutathione-related DEGs were linked to biological processes such as response to oxidative stress and response to xenobiotic stimulus, according to enrichment analysis. Out of DEGs associated with glutathione, six hub genes were chosen. In the DLBCL population, there was a notable upregulation of the six hub genes. All the genes' AUC values in the diagnostic ability category were more than 0.7, showing strong hub gene diagnostic capacity. The DLBCL population had a high level of T-cell infiltration, according to immune infiltration analysis techniques. Similar activities, such as the cell cycle G2/M phase transition and the negative control of organelle formation, are demonstrated by gene function prediction for hub. According to drug sensitivity prediction, there was a favorable link between KPNA2 with pracinostat, BRCA1 with B-7100, and LEE-011. The gene KPNA2 was shown to be concurrently targeted by many miRNAs and TFs, according to the miRNA-gene-TF interaction network.</p><p><strong>Conclusion: </strong>The relationship between DLBCL and glutathione-related genes was uncovered by our research, and six glutathione genes were linked to DLBCL. These genes might be used as diagnostic biomarkers or targets for treatment for DLBCL patients.</p>","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":" ","pages":"218-235"},"PeriodicalIF":1.7,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142709351","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":"Multiple Aneuploidy: First Report of a Patient Presenting with a Karyotype 45,X/48,XXX,+21.","authors":"Gabriela Roldão Correia Costa, Josep Jorente, Larissa Bretanha Pontes, Nilma Lúcia Viguetti Campos, Antonia Paula Marques-de-Faria, Társis Paiva Vieira, Carlos Eduardo Steiner","doi":"10.1159/000540587","DOIUrl":"10.1159/000540587","url":null,"abstract":"<p><strong>Introduction: </strong>The dual diagnosis of Down syndrome and Turner syndrome in the same patient was clinically identified in the early 1950s before the development of karyotyping techniques. After that, several authors reported anecdotal patients and/or reviewed series of Down-Turner double aneuploidies due to a regular 46,X,+21 constitution or different combinations of abnormal cell lines. In such cases, the most typical presentation encompasses the female sex, Down syndrome phenotype, and chromosomal mosaicism.</p><p><strong>Case presentation: </strong>Here we report a female patient presenting with short stature, dysmorphic features, developmental delay, and learning disabilities, whose karyotype revealed a previously undescribed 45,X[47]/48,XXX,+21[3] constitution.</p><p><strong>Conclusion: </strong>This is the first case encompassing these three aneuploidies together and, contrary to most previous reports, exhibiting a predominantly Turner syndrome phenotype associated with developmental delay.</p>","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":" ","pages":"103-109"},"PeriodicalIF":1.7,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141787486","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":"The Molecular Mechanism of Aurora-B Regulating Kinetochore-Microtubule Attachment in Mitosis and Oocyte Meiosis.","authors":"Shanshan Chen, Qiqi Sun, Bo Yao, Yanping Ren","doi":"10.1159/000540588","DOIUrl":"10.1159/000540588","url":null,"abstract":"<p><strong>Background: </strong>Aurora kinase B (Aurora-B), a member of the chromosomal passenger complex, is involved in correcting kinetochore-microtubule (KT-MT) attachment errors and regulating sister chromatid condensation and cytoplasmic division during mitosis.</p><p><strong>Summary: </strong>However, few reviews have discussed its mechanism in oocyte meiosis and the differences between its role in mitosis and meiosis. Therefore, in this review, we summarize the localization, recruitment, activation, and functions of Aurora-B in mitosis and oocyte meiosis. The accurate regulation of Aurora-B is essential for ensuring accurate chromosomal segregation and correct KT-MT attachments. Aurora-B regulates the stability of KT-MT attachments by competing with cyclin-dependent kinase 1 to control the phosphorylation of the SILK and RVSF motifs on kinetochore scaffold 1 and by competing with protein phosphatase 1 to influence the phosphorylation of NDC80 which is the substrate of Aurora-B. In addition, Aurora-B regulates the spindle assembly checkpoint by promoting the recruitment and activation of mitotic arrest deficient 2.</p><p><strong>Key messages: </strong>This review provides a theoretical foundation for elucidating the mechanism of cell division and understanding oocyte chromosomal aneuploidy.</p>","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":" ","pages":"69-77"},"PeriodicalIF":1.7,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141787487","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}