Cytogenetic and Genome Research最新文献

{"title":"Characterization of <italic>DMRT1</italic> Variants for Testis Determination and Differentiation in Emu.","authors":"Yuki Kimura, Miki Okuno, Luisa Matiz-Ceron, Shusei Mizushima, Shoichiro Mitsukawa, Yutaka Suzuki, Takehiko Itoh, Asato Kuroiwa","doi":"10.1159/000548251","DOIUrl":"10.1159/000548251","url":null,"abstract":"<p><strong>Introduction: </strong>DMRT1 on the Z chromosome is a conserved male sex-determining gene in birds. In chickens, a representative model species of Neognathae, the function of DMRT1 has been well characterized. In contrast, Palaeognathae species such as the emu possess less differentiated sex chromosomes and thus provide a valuable system for investigating avian sex determination, yet molecular studies remain limited. We investigated the timing of sex determination and the expression of key genes involved in gonadal differentiation in emu and further characterized DMRT1 variants.</p><p><strong>Methods: </strong>Sex determination stage was identified by anatomical comparison of male and female embryonic gonads. Expression of seven genes (DMRT1, AMH, SOX9, NR5A1, FOXL2, CYP19A1, and RSPO1) was examined by mRNA-seq and RT-PCR. DMRT1 splicing variants were predicted by in silico analysis and 3' RACE was used to identify alternative polyadenylation (APA) variants.</p><p><strong>Results: </strong>The gonadal differentiation occurred at HH25-28 based on gonadal morphology. Gene expression analysis revealed emu-specific patterns not observed in chickens. Notably, RSPO1 was highly expressed in females at HH24-25, preceding DMRT1 expression in males at HH28-29, suggesting ovarian differentiation begins earlier. We identified three splicing variants and four APA variants of DMRT1, with variant 1 predominant during gonadal development.</p><p><strong>Conclusion: </strong>These findings suggest that while molecular sex differentiation mechanisms are largely conserved between Palaeognathae and Neognathae, they differ in parts. In particular, early RSPO1 expression may initiate ovarian differentiation prior to testis determination by DMRT1. The presence of emu-specific DMRT1 variants further indicates possible species-specific mechanisms in testis development.</p>","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":" ","pages":"6-19"},"PeriodicalIF":1.3,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144946244","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":"Radiosensitivity and Bystander Response in X-Ray-Irradiated Tumour and Normal Epithelial Cells of Breast and Prostate Origin.","authors":"Rahul Kabir, Teena Koshy, Pooja Kamal Melwani, Badri Narain Pandey, Satish Srinivas Kondaveeti, Venkatachalam Perumal","doi":"10.1159/000550473","DOIUrl":"10.1159/000550473","url":null,"abstract":"<p><strong>Introduction: </strong>Radiotherapy (RT) outcome is governed by radiosensitivity and DNA repair capacity of tumour cells and their interaction with surrounding normal tissues and vice versa. As radiosensitivity varies with the origin and genetic makeup of the cell, this study compares direct and bystander responses in directly targeted to X-rays and non-targeted (bystander) tumour (MCF-7 and PC3) and normal (MCF10A and HPrEC) epithelial cells of breast and prostate origin.</p><p><strong>Methods: </strong>Cells were exposed to X-rays (0, 2, and 4 Gy) by a clinical linear accelerator and co-cultured with corresponding unirradiated cells. Micronucleus (MN) and clonogenic assays were adopted to quantify the DNA damage and survival fraction (SF), respectively, in all cells and multicolour fluorescence in situ hybridization (m-FISH) in MCF-7 and PC3 cells to identify the chromosomes frequently involved in translocations.</p><p><strong>Results: </strong>Directly targeted tumour and normal cells showed a significant increase in MN frequency and decrease in SF. MN frequency increased from 0.023 ± 0.004 (control) to 0.076 ± 0.008 (2 Gy) and 0.177 ± 0.013 (4 Gy) in MCF-7 cells. MCF10A showed MN frequency of 0.049 ± 0.007 (control), 0.128 ± 0.011 (2 Gy), and 0.219 ± 0.014 (4 Gy). SF was significantly higher in MCF-7 (0.39 ± 0.03 and 0.15 ± 0.02) cells than MCF10A (0.30 ± 0.02 and 0.12 ± 0.01). MN frequency in PC3 cells increased from 0.056 ± 0.007 (control) to 0.168 ± 0.012 (2 Gy) and 0.378 ± 0.019 (4 Gy). HPrEC exhibited MN frequency of 0.018 ± 0.004 (control), 0.058 ± 0.007 (2 Gy), and 0.147 ± 0.012 (4 Gy). SF was higher in HPrEC (0.72 ± 0.03 and 0.40 ± 0.02) cells than PC3 (0.22 ± 0.01 and 0.09 ± 0.004). Similarly, a significant increase in MN frequency was observed in the non-targeted cells when compared to that of control, confirming occurrence of radiation-induced bystander effect. Thus, the results indicate radiation sensitivity differs among the cell types. The m-FISH results reveal a non-random distribution of X-irradiation-induced breaks and translocation. In directly targeted cells, chromosomes 7, 16, 17, 20, 21, 22 (MCF-7) and 3, 4, 6, 14, 17 (PC3) showed frequent involvement in translocations. Chromosomes 17 and 20 (MCF-7) and 10, 11, and 18 (PC3) were frequently involved in non-targeted cells.</p><p><strong>Conclusion: </strong>The present study results indicate that the tumour cells demonstrated higher radiosensitivity and a stronger bystander response than normal cells. Intrinsic molecular factors and genome organization affect both targeted and non-targeted responses, emphasizing their relevance for optimizing RT strategies.</p>","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":" ","pages":"207-221"},"PeriodicalIF":2.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146092349","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":"Robertsonian Translocation Rob(13;19) Identified in Guinea Pig (<italic>Cavia porcellus</italic>, Rodentia).","authors":"Halina Cernohorska, Svatava Kubickova, Petra Musilova, Miluse Vozdova","doi":"10.1159/000548825","DOIUrl":"10.1159/000548825","url":null,"abstract":"<p><strong>Introduction: </strong>The domestic guinea pig (Cavia porcellus, Caviidae) is an important laboratory species, model for human medical research, worldwide spread pet and a source of food in specific parts of South America. Data on chromosomal abnormalities in guinea pigs are really limited, probably due to the complexity of their karyotype (2n = 64).</p><p><strong>Methods: </strong>G- and C-banding and fluorescence in situ hybridization (FISH) using human chromosome-specific painting probes were used to analyze the karyotype and identify chromosomes involved in a newly discovered Robertsonian translocation.</p><p><strong>Results: </strong>Karyotype 63,XY,rob(13;19) was revealed in a phenotypically normal, fertile domestic guinea pig male. The chromosomes involved in the fusion were verified using FISH with human whole chromosome probes and known guinea pig - human chromosome synteny.</p><p><strong>Conclusion: </strong>This finding adds to the limited cytogenetic data available on the guinea pig, and provides a basis for further investigation of their chromosomal variation and its biological significance. Our results indicate the need for chromosome studies in this cytogenetically mostly neglected species, especially in breeding populations used for biomedical research.</p>","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":" ","pages":"1-5"},"PeriodicalIF":1.3,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145228461","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":"Chromosomal Instability in Mouse-Induced Pluripotent Stem Cells: Insights into X and Y Aneuploidies.","authors":"Marianna Paulis, Paola Rebuzzini, Lucia Susani, Paolo Vezzoni, Lorenzo Fassina, Maurizio Zuccotti, Silvia Garagna","doi":"10.1159/000549096","DOIUrl":"10.1159/000549096","url":null,"abstract":"<p><strong>Introduction: </strong>Induced pluripotent stem (iPS) cells share key features with embryonic stem (ES) cells, including similar limitations such as the accumulation of (epi)genetic and genomic alterations. However, sex chromosome instability in mouse iPS cells remains poorly understood. This retrospective study aimed to investigate this phenomenon by analyzing mouse iPS cell clones. Specifically, we examined whether factors such as passage number, cell sex, founder cell type, or reprogramming method influence the presence or absence of sex chromosome abnormalities.</p><p><strong>Methods: </strong>Sex chromosome stability was evaluated in 26 independent male and female mouse iPS cell clones using standard karyotyping techniques. Additionally, we analyzed an artificially generated XXY iPS cell model, in which an extra X chromosome was introduced into a normal XY cell line. Statistical analyses were conducted on the karyotyping results and correlated with both continuous variables (e.g., passage number) and categorical variables (e.g., cell sex, founder cell type, and reprogramming method).</p><p><strong>Results: </strong>Female iPS cell clones displayed significantly higher levels of sex chromosome instability compared to their male counterparts, regardless of the founder cell type or reprogramming strategy. A similar pattern of X chromosome instability was also observed in the XXY iPS cell model.</p><p><strong>Conclusion: </strong>Our findings demonstrate that sex chromosome instability occurs in mouse iPS cells, as previously reported in mouse ES cells, suggesting a conserved phenomenon across pluripotent stem cell types. Importantly, the presence of multiple X chromosomes in the pluripotent state appears to contribute to this instability. Further studies are required to elucidate the underlying molecular mechanisms.</p>","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":" ","pages":"67-78"},"PeriodicalIF":1.3,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145367811","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":"Coexistence of Mosaic Marker Chromosome and Isodisomy 1 in Reproductive Failure: A Cytogenomic Case Report and Review of the Literature.","authors":"Sadiye Ekinci, Ekin Aydın, Şule Altıner","doi":"10.1159/000549338","DOIUrl":"10.1159/000549338","url":null,"abstract":"<p><strong>Introduction: </strong>Reproductive failure has been associated with various chromosomal abnormalities, including small supernumerary marker chromosomes (sSMCs). In rare cases, uniparental disomy (UPD) may also contribute to reproductive problems, particularly when involving imprinted regions or in cases of isodisomy where autosomal recessive disorders may manifest. UPD involving chromosome 1 (UPD1) is rare and has not been linked to a consistent phenotype.</p><p><strong>Case presentation: </strong>We present a 27-year-old woman with a 5-year history of reproductive difficulty, including one biochemical pregnancy loss and one clinically recognized miscarriage at 8 weeks of gestation. Cytogenetic analysis revealed mosaicism for a small sSMC derived from chromosome 1. SNP microarray identified complete UPD1 without copy number changes. Fluorescence in situ hybridization (FISH) confirmed centromeric material of chromosome 1 in the marker chromosome.</p><p><strong>Conclusion: </strong>To the best of our knowledge, this is the first reported case combining mosaic sSMC(1) and complete UPD1 in a phenotypically healthy woman with reproductive failure. The coexistence of these abnormalities likely reflects a postzygotic chromosomal rescue mechanism. These findings underscore the diagnostic value of integrated cytogenomic analyses in unexplained reproductive failure and subfertility.</p>","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":" ","pages":"125-132"},"PeriodicalIF":1.3,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145421335","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":"High Amplification of CLA-SAT-149 Satellite DNA in Bighead Catfish: Insights into Satellite DNA Evolution in Clariid Lineages.","authors":"Worapong Singchat, Wattanawan Jaito, Trifan Budi, Thitipong Panthum, Narongrit Muangmai, Chaiwut Grudpan, Jarungjit Grudpan, Suphada Kiriratnikom, Kyudong Han, Darren K Griffin, Prateep Duengkae, Yoichi Matsuda, Kornsorn Srikulnath","doi":"10.1159/000548841","DOIUrl":"10.1159/000548841","url":null,"abstract":"<p><strong>Introduction: </strong>Satellite DNA (satDNA) is an important component of eukaryotic genomes that influences chromosomal organization and evolution. This study investigates the sequence diversity, chromosomal distribution, and copy number variation of the CLA-SAT-149 satDNA family (149 bp) in four clariid catfish species, Clarias macrocephalus, C. gariepinus, C. batrachus, and C. nieuhofii, as well as in F₁ hybrids and backcross (BC) progeny.</p><p><strong>Methods: </strong>Fluorescence in situ hybridization (FISH) was used to map CLA-SAT-149 on metaphase chromosomes. Quantitative PCR (qPCR) quantified copy number variation. Amplicon sequencing was applied to characterize sequence variants, and Bayesian clustering analysis was used to assess genetic relationships among subfamilies.</p><p><strong>Results: </strong>Chromosome mapping showed species-specific signals present in C. macrocephalus and F₁ hybrids but absent in C. gariepinus and C. nieuhofii. qPCR revealed significantly higher copy numbers in C. macrocephalus. Two sequence variants were identified: the canonical 149-bp (subfamily A) and an 85-bp derivative (subfamily B). Bayesian analysis indicated multiple genetically distinct subgroups among species. F₁ hybrids and BC progeny exhibited unique sequence profiles and copy number patterns, while C. nieuhofii lacked CLA-SAT-149 entirely.</p><p><strong>Conclusion: </strong>The results support lineage-specific expansion, amplification, and loss of CLA-SAT-149 in clariid catfish, consistent with the satDNA library model. These patterns provide insights into satDNA evolution and have potential applications in aquaculture genetics, hybrid identification, and species differentiation.</p>","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":" ","pages":"79-95"},"PeriodicalIF":2.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145243450","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 situ and in silico Localization of Major Satellite DNAs in the Genome of the Red-Eared Slider (<italic>Trachemys scripta elegans</italic>, Emydidae, Testudines).","authors":"Svetlana Romanenko, Svetlana A Romanenko, Dmitry Yu Prokopov, Sergey A Marchenko, Maria M Kulak, Arina V Ilina, Natalia A Serdyukova, Svetlana A Galkina, Vladimir A Trifonov","doi":"10.1159/000544908","DOIUrl":"10.1159/000544908","url":null,"abstract":"<p><strong>Introduction: </strong>Satellite DNA is an important component of the eukaryotic genome. Some satellite DNAs plays an important role in various biological processes. The red-eared slider (Trachemys scripta elegans, 2n = 50, C = 1.43 pg) belongs to the American freshwater turtle family and is recognized as one of the world's most invasive species. In the T. s. elegans chromosome-level genome assembly, which has been recently published, satellite DNAs comprise only 0.1%. From the repetitive repertoire of the T. elegans genome, only ribosomal DNA genes and telomeric repeats have been localized on the species' chromosomes.</p><p><strong>Methods: </strong>Using publicly available short-read sequencing data, we conducted de novo identification of the most abundant satellite DNAs in T. s. elegans using the TAREAN pipeline. We combined bioinformatics (using blastn) and chromosome mapping by fluorescence in situ hybridization to describe the distribution of major tandem repetitive DNAs. The diversity and distribution of satDNA in the assembled genome of T. s. elegans were explored using the SatXplor pipeline.</p><p><strong>Results: </strong>Six major satellite sequences occupying approximately 0.8% of the genome were identified in the genome data, all of which were successfully localized both in situ and in silico on T. s. elegans chromosomes and in silico on chromosomal scaffolds. We revealed a complex structural organization of these sequences: monomers may be moderately or highly variable and they may contain regions homologous to retrotransposons. Cytogenetic mapping showed the accumulation of satellite DNAs in the pericentromeric regions of most chromosomes and in the distal regions of the short arms of submetacentric chromosomes. Comparisons between cytogenetic maps and genome assembly data revealed discrepancies in the number and chromosomal locations of the identified satellite DNA clusters.</p><p><strong>Conclusion: </strong>The red-eared slider genome has a greater proportion of satellite DNA than was previously reported. These satellites demonstrate no specificity for either macrochromosomes or microchromosomes. Differences between in situ and in silico results indicate the challenges of repetitive sequence assembly, as well as discrepancies between chromosome numbering in the current chromosome-level genome assembly and the physical chromosome map.</p>","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":" ","pages":"162-174"},"PeriodicalIF":1.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143604274","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":"Kallmann Syndrome due to Balanced X Chromosomal Pericentric Inversion Disrupting ANOS1.","authors":"Michihiko Aramaki, Takashi Hamajima, Erina Suzuki, Maki Fukami, Keiko Matsubara","doi":"10.1159/000545695","DOIUrl":"10.1159/000545695","url":null,"abstract":"<p><strong>Introduction: </strong>Kallmann syndrome (KS) is a rare congenital disorder characterized by hypogonadotropic hypogonadism and anosmia/hyposmia. KS primarily results from nucleotide substitutions and copy number variations in known causative genes. Only one balanced X chromosomal inversion involving ANOS1 has been identified in a patient.</p><p><strong>Case presentation: </strong>We encountered a boy with typical clinical features of KS. G-banding showed a 46,Y,inv(X)(pter→p22.32::q21.1→p22.32::q21.1→qter) karyotype, and whole genome sequencing and array-based comparative genomic hybridization detected a copy number neutral pericentric inversion involving a 72-Mb region. The breakpoints were mapped to ANOS1 intron 3 and an intergenic region at Xq21.1. The two breakpoints shared a 3-bp complementary sequence but were not associated with repetitive elements or nucleotide insertions at the fusion junction.</p><p><strong>Conclusion: </strong>These results indicate that KS-causative inversions on the X chromosome can arise from replication-based errors. Furthermore, our data provide evidence that balanced X chromosomal inversions constitute a rare monogenic cause of KS.</p>","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":" ","pages":"93-98"},"PeriodicalIF":1.7,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143973424","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":"Whole-Arm Chromosome Rearrangements and Telomeric Signal Displays: Current Cytogenetic Updates on Two Target Mammalian Taxa.","authors":"Svetlana Pavlova, Nina S Bulatova, Alexander S Graphodatsky, Victor Spangenberg, Svetlana V Pavlova","doi":"10.1159/000545600","DOIUrl":"10.1159/000545600","url":null,"abstract":"<p><strong>Introduction: </strong>Here we compare differences in the presence of telomeric signals (tDNA-FISH) among karyotypes of taxa having different whole-arm chromosomal rearrangements under the assumption of their participation in differentiation/integration processes during karyotype evolution. We analyzed the cytogenetic peculiarities of Robertsonian-like (centromeric) and tandem (telomere-involving) rearrangements using examples of the authors' recent research on comparative cytogenetics of mammals. New data on intra- and interspecific karyotype variation helped understand the nature of chromosomal rearrangements and their molecular features within and between species in two target mammalian taxa: representatives of two genera from two orders (insectivores and rodents).</p><p><strong>Methods: </strong>To detect telomeric repeats in karyotypes of representatives of the Eurasian genus Sorex and Ethiopian endemic Stenocephalemys, G-banded metaphase chromosomes were hybridized in situ with a fluorescein-conjugated peptide nucleic acid probe and 5'-TAMRA-labeled (CCCTAA)₄ oligonucleotides.</p><p><strong>Results: </strong>We compared the location of a molecular chromosomal trait - telomeric sequences - among karyotypes of taxonomically distinct individuals having different types of whole-arm chromosomal rearrangements. Along with the regular terminal location of the telomeric signal on all chromosomes, displays of interstitial telomeric sequences (ITSs) were detectable. This pattern was typical for a studied shrew specimen whose karyotype corresponded to a natural interracial F1 hybrid. This finding doubles the number (known to date) of S. araneus race-specific metacentrics having an identified telomeric signal. In karyotypes of Stenocephalemys specimens, we revealed individual differences in autosomes corresponding to tandem fusion rearrangements, possibly species-specific, for the first time. No intrachromosomal telomeric signal expected in this case was detectable in autosomes, whereas we registered ITSs in pericentromeric regions on X chromosomes near a short, completely heterochromatic (additional) arm.</p><p><strong>Conclusion: </strong>The new data indicate a heterogeneous distribution of the telomeric signal (tDNA-FISH) on mitotic chromosomes that are involved in (typical for mammals) whole-arm chromosomal variation, thus representing two models of karyotype evolution: Robertsonian polymorphism and tandem fusions. In the analyzed examples of whole-arm chromosomal rearrangements, displays of the centromeric ITS signal more likely represent an integral feature of cytogenetic relatedness within a species (chromosomal races) or between species (in a genus or group of genera) than differentiation of taxa.</p>","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":" ","pages":"140-148"},"PeriodicalIF":1.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143751563","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":"Study on DNA Damage Gene in Spermatogonial Stem Cells from Idiopathic Nonobstructive Azoospermia: A Bioinformatics Investigation Based on scRNA-seq Data.","authors":"Yi Wang, Yiming Weng, Yanqiu Wang, Jun Xiang, Wei Le","doi":"10.1159/000545275","DOIUrl":"10.1159/000545275","url":null,"abstract":"<p><strong>Introduction: </strong>DNA damage may affect homeostasis on spermatogonial stem cells (SSCs), while the detailed relationship with male infertility still remains unclear. Therefore, it is important for further research into the mechanisms related to DNA damage and genomic stability in SSCs.</p><p><strong>Methods: </strong>scRNA-seq datasets from idiopathic nonobstructive azoospermia (NOA) and normal testes were collected and testicular cells were further annotated via UMAP. Based on annotation of the sequencing data, WGCNA analysis on the differentially expressed genes was conducted; LASSO regression and the MNC calculation algorithm in Cytoscape were carried out to find genes associated with DNA damage repair.</p><p><strong>Results: </strong>It was found that SSCs were mainly concentrated in normal samples, and the differences in subcluster pathways reflected the heterogeneity of NOA. While the characteristics of the interaction between Leydig cells and other cells were clarified, the importance of the PTN signaling pathway in SSCs development was discovered, which participates in SSCs development through SDC2. Combining the marker genes of SSCs and DNA damage-related genes in single-cell analysis, a PPI network was constructed. Through LASSO regression and the MNC calculation algorithm in Cytoscape, ATRX, DOT1L, and RUVBL2 were finally identified as key diagnostic genes.</p><p><strong>Conclusion: </strong>Our results revealed predictable mechanisms of testicular micro-environment and DNA damage in the regulation of human SSCs and propose potential therapeutic targets for male infertility. Subsequently, further research to confirm the predicted potential mechanisms, pathways, and therapeutic targets should be conducted.</p>","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":" ","pages":"9-22"},"PeriodicalIF":1.7,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143656365","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}