Cytogenetic and Genome Research最新文献

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George Martin and Werner syndrome. 乔治·马丁和维尔纳综合症。
IF 1.3 4区 生物学
Cytogenetic and Genome Research Pub Date : 2026-04-27 DOI: 10.1159/000551947
Vilhelm A Bohr, Adayabalam S Balajee
{"title":"George Martin and Werner syndrome.","authors":"Vilhelm A Bohr, Adayabalam S Balajee","doi":"10.1159/000551947","DOIUrl":"https://doi.org/10.1159/000551947","url":null,"abstract":"<p><p>No Abstract.</p>","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":" ","pages":"1-10"},"PeriodicalIF":1.3,"publicationDate":"2026-04-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147765450","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
The Spectrum of Mosaic Double Aneuploidy of Monosomy X and Trisomy 18: Two New Cases and Review of the Literature. X单体和18三体镶嵌双非整倍体的谱:两例新病例及文献综述。
IF 1.3 4区 生物学
Cytogenetic and Genome Research Pub Date : 2026-03-09 DOI: 10.1159/000551328
Teresa M Campbell, Candace T Myers, Cate R Paschal, James T Bennett, Anita E Beck, Alexandra C Keefe
{"title":"The Spectrum of Mosaic Double Aneuploidy of Monosomy X and Trisomy 18: Two New Cases and Review of the Literature.","authors":"Teresa M Campbell, Candace T Myers, Cate R Paschal, James T Bennett, Anita E Beck, Alexandra C Keefe","doi":"10.1159/000551328","DOIUrl":"https://doi.org/10.1159/000551328","url":null,"abstract":"<p><strong>Introduction: </strong>Mosaic double aneuploidy (MDA) defines the presence of two chromosomally distinct cells lines derived from the same zygote arising from early cytogenetic events. MDA for monosomy X and trisomy 18 is a rare occurrence described in only 12 individuals in the medical literature to date.</p><p><strong>Case presentation: </strong>Here, we present two individuals with MDA of monosomy X and trisomy 18 with a Turner predominant phenotype. Congruent with previous reports, the percentage of aneuploid cells is highly variable in differing tissues, without clear genotype-phenotype associations. Molecular mechanism explored in one individual suggests two independent post-zygotic events lead to this chromosomal constitution.</p><p><strong>Conclusion: </strong>Given the rarity of this condition and the recognition that early post-zygotic chromosomal aneuploidy events are common, additional reports of individuals with MDA are needed to expand the natural history and improve counseling for families, especially in the prenatal period, as clinical manifestations of either chromosomal condition is possible.</p>","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":" ","pages":"1-9"},"PeriodicalIF":1.3,"publicationDate":"2026-03-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147389719","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
Familial Robertsonian Translocation, rob(14;21), with High Risk for Down Syndrome. 家族性罗伯逊易位(14;21),唐氏综合症高危人群。
IF 1.3 4区 生物学
Cytogenetic and Genome Research Pub Date : 2026-03-05 DOI: 10.1159/000551071
Anna Rajab, Heidemarie Neitzel, Jenny Jalali, Alice Krebsova, Lihadh Al-Gazali, Peter N Robinson, Karl Sperling
{"title":"Familial Robertsonian Translocation, rob(14;21), with High Risk for Down Syndrome.","authors":"Anna Rajab, Heidemarie Neitzel, Jenny Jalali, Alice Krebsova, Lihadh Al-Gazali, Peter N Robinson, Karl Sperling","doi":"10.1159/000551071","DOIUrl":"10.1159/000551071","url":null,"abstract":"<p><strong>Introduction: </strong>Robertsonian translocations resulting from the fusion of two acrocentric chromosomes are the most common chromosomal rearrangements in healthy individuals. Female carriers of a Robertsonian 14;21 translocation have a 10% risk for a liveborn with trisomy 21.</p><p><strong>Methods: </strong>The study is based on a large family from Oman with eight offspring with translocation trisomy 21 (rob(14;21)(q10;q10),+21). The core family had nine live births, of which five were affected by translocation trisomy 21, two are monozygotic twins. The meiotic recombination pattern was analyzed by microsatellite markers covering chromosomes 21 and 14. For comparison, meiotic recombination was studied in an Arab family with three offspring with trisomy 21. In addition, in the mother of the core family whole-genome sequencing (WGS) was performed to look for possible variants involved in this process.</p><p><strong>Results: </strong>Apart from the core family, there are three other related families with one affected child each. The increased risk for a child with translocation trisomy 21 in the core family is significant. In all cases, the nondisjunction took place at the first meiotic division (MI). Crossovers along chromosome 21 were observed in all affected children, in 2 cases a double crossover in the proximal part of chromosome 21. This pattern is completely different to that of the family with free trisomy 21. WGS did not reveal known pathogenic/likely pathogenic variants related to meiotic dysfunction.</p><p><strong>Conclusion: </strong>To the best of our knowledge, such a chromosomal transmission ratio distortion has not been reported so far. In addition, meiotic recombination between the translocation chromosome and free chromosome 21 showed an unusual pattern.</p>","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":" ","pages":"1-10"},"PeriodicalIF":1.3,"publicationDate":"2026-03-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147364417","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
Radiosensitivity and Bystander Response in X-Ray-Irradiated Tumour and Normal Epithelial Cells of Breast and Prostate Origin. x线照射肿瘤和乳腺、前列腺源性正常上皮细胞的放射敏感性和旁观者反应。
IF 1.3 4区 生物学
Cytogenetic and Genome Research Pub Date : 2026-01-30 DOI: 10.1159/000550473
Rahul Kabir, Teena Koshy, Pooja Kamal Melwani, Badri Narain Pandey, Satish Srinivas Kondaveeti, Venkatachalam Perumal
{"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":"1-15"},"PeriodicalIF":1.3,"publicationDate":"2026-01-30","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}
引用次数: 0
Cytogenetic Profile of Acute Lymphoblastic Leukaemia in South India: A Series of 1,819 Patients from a Single Centre. 印度南部急性淋巴细胞白血病的细胞遗传学特征:来自单一中心的1819名患者的一系列研究。
IF 1.3 4区 生物学
Cytogenetic and Genome Research Pub Date : 2026-01-26 DOI: 10.1159/000550620
Vivi M Srivastava, Poonkuzhali Balasubramanian, Sukesh Nair, Marie Therese Manipadam, Kavitha M Lakshmi, Uday P Kulkarni, Anup J Devasia, Fouzia N Aboobacker, Anu Korula, Aby Abraham, Alok Srivastava
{"title":"Cytogenetic Profile of Acute Lymphoblastic Leukaemia in South India: A Series of 1,819 Patients from a Single Centre.","authors":"Vivi M Srivastava, Poonkuzhali Balasubramanian, Sukesh Nair, Marie Therese Manipadam, Kavitha M Lakshmi, Uday P Kulkarni, Anup J Devasia, Fouzia N Aboobacker, Anu Korula, Aby Abraham, Alok Srivastava","doi":"10.1159/000550620","DOIUrl":"10.1159/000550620","url":null,"abstract":"<p><strong>Introduction: </strong>Cytogenetic findings are critical for determining prognosis, therapy and risk assessment in acute lymphoblastic leukaemia (ALL). Data on the epidemiology of cytogenetic findings in ALL from southern Asia is limited. This report documents the cytogenetic changes in ALL seen at a referral hospital in southern India and compares it with the literature.</p><p><strong>Methods: </strong>Clinical profiling and conventional cytogenetic analysis (CCA) of all patients with reverse-transcription polymerase chain reaction for detection of cryptic t(12;21).</p><p><strong>Results: </strong>Of 1,968 ALL, 1,819 (92.4%) patients aged 0.3-84 years (median 17) had successful CCA. There were 979 children (≤18 years) and 840 adults. Abnormal karyotypes were found in 1,368 (75.2%), B-ALL-78%, and T-ALL-69%. The favourable-risk group included high hyperdiploidy (HeH, 17.4%), t(12;21) (9.8%), and t(1;19) (4.3%), with >80% of HeH and t(12;21) in children. The unfavourable-risk group included t(9;22) (11.2%, 80% adults), hypodiploidy (8.0%), MYC (8q24) translocations (2.3%), and KMT2A (11q23) translocations (1.6%). In children, the frequency of HeH (26.8%) was lower than the West (30.7%) but higher than South-East (S.E.) Asia (15.5%) while t(9;22) (4.2%) was higher than the West (2%) but lower than S.E. Asia (6.8%). In adults, frequencies again differed from S.E. Asia (HeH, 6.4% vs. 2.7% and t(9;22), 19.4% vs. 29.3%) but were comparable to the West.</p><p><strong>Conclusion: </strong>CCA effectively provides diagnostic information in over 90% of ALL cases. While the spectrum of cytogenetic changes is similar to global data, there are significant regional variations in the frequencies of specific abnormalities.</p>","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":" ","pages":"1-11"},"PeriodicalIF":1.3,"publicationDate":"2026-01-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146050771","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
Chromosome structure of wild wheat relative Aegilops uniaristata (Triticeae). 野生小麦亲缘小麦的染色体结构。
IF 1.3 4区 生物学
Cytogenetic and Genome Research Pub Date : 2026-01-19 DOI: 10.1159/000550462
Tatiana V Danilova, Bernd Friebe, Eduard Akhunov
{"title":"Chromosome structure of wild wheat relative Aegilops uniaristata (Triticeae).","authors":"Tatiana V Danilova, Bernd Friebe, Eduard Akhunov","doi":"10.1159/000550462","DOIUrl":"https://doi.org/10.1159/000550462","url":null,"abstract":"<p><strong>Introduction: </strong>Homoeologous chromosomes within the grass tribe Triticeae have largely retained their cross-species colinearity. However, prior studies suggest that the karyotype of Aegilops uniaristata, a diploid wild relative of wheat (genome NN, 2n=2x=14), is noticeably different from most of the Triticeae species.</p><p><strong>Methods: </strong>We used fluorescence in situ hybridization with a large collection of probes hybridizing to repetitive and coding regions of the Triticeae genomes to perform comparative cytogenetic analysis and establish the macrostructure of Ae. uniaristata chromosomes.</p><p><strong>Results: </strong>Compared to wheat, all chromosomes of Ae. uniaristata, with the exception of 5N, were found significantly rearranged due to multiple inter- and intrachromosomal translocations and inversions. Discussion/ Conclusion: The N genome structure revealed in our study is useful for understanding karyotype evolution and facilitating introgression from Ae. uniaristata and the N genome of polyploid Aegilops species for wheat improvement.</p>","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":" ","pages":"1-15"},"PeriodicalIF":1.3,"publicationDate":"2026-01-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146003174","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
Genomic Imprinting: Insights into Diverse Epigenetic Regulatory Mechanisms. 基因组印记:洞察不同的表观遗传调控机制。
IF 1.3 4区 生物学
Cytogenetic and Genome Research Pub Date : 2026-01-01 Epub Date: 2025-07-22 DOI: 10.1159/000547555
Gaurav Kumar Pandey, Rajiva Raman
{"title":"Genomic Imprinting: Insights into Diverse Epigenetic Regulatory Mechanisms.","authors":"Gaurav Kumar Pandey, Rajiva Raman","doi":"10.1159/000547555","DOIUrl":"10.1159/000547555","url":null,"abstract":"<p><strong>Background: </strong>Genomic imprinting is a well-known phenomenon in which certain genes are expressed in a sex-of-the-parent-specific manner, resulting in mono-allelic expression.</p><p><strong>Summary: </strong>Over the years, the diversity of mechanisms observed in imprinted gene clusters has provided a valuable model system for exploring the complexities of epigenetics, which can be extended to other cellular and disease models. This review examines these different mechanisms throughout early embryonic development and offers insights into the interactions among key players such as DNA methylation, histone modifications, and non-coding RNAs, as well as their regulatory impact on gene expression.</p><p><strong>Key message: </strong>Genomic imprinting, although being a classical genetic concept, has emerged as a model system for understanding diverse epigenetic regulatory mechanisms. This review offers an overview of such regulatory mechanisms that have been learnt over the years through studies on imprinted clusters.</p>","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":" ","pages":"46-63"},"PeriodicalIF":1.3,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144689425","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
Assessing the Genetic Integrity of Embryos Carrying X/Y-Autosome-Balanced Translocations through SNP-Based PGT-SR. 通过基于snp的PGT-SR评估携带X/ y常染色体平衡易位的胚胎的遗传完整性。
IF 1.3 4区 生物学
Cytogenetic and Genome Research Pub Date : 2026-01-01 Epub Date: 2025-10-14 DOI: 10.1159/000548936
Yueyun Lan, Jinhui Shu, Sheng He, Jingsi Luo, Jiasun Su, Wei Li, Chaofan Zhou, Xianglian Tang, Yuan Wei, Minpan Huang, Caizhu Wang, Xin Zhao, Zhan Li, Qingming Qiu, Hong Zhou, Peng Huang
{"title":"Assessing the Genetic Integrity of Embryos Carrying X/Y-Autosome-Balanced Translocations through SNP-Based PGT-SR.","authors":"Yueyun Lan, Jinhui Shu, Sheng He, Jingsi Luo, Jiasun Su, Wei Li, Chaofan Zhou, Xianglian Tang, Yuan Wei, Minpan Huang, Caizhu Wang, Xin Zhao, Zhan Li, Qingming Qiu, Hong Zhou, Peng Huang","doi":"10.1159/000548936","DOIUrl":"10.1159/000548936","url":null,"abstract":"<p><strong>Introduction: </strong>The influence of X/Y-autosomal translocations on reproductive competence is determined by both the cytogenetic positioning of translocation breakpoints and the potential disruption of critical genomic regions essential for reproductive physiology, particularly gene-dense Y-chromosomal segments or X-chromosome loci associated with ovarian folliculogenesis. This investigation examined 4 cases of cytogenetically balanced X/Y-autosomal translocations through the single-nucleotide polymorphism (SNP) and preimplantation genetic testing for structural rearrangements (SNP-based PGT-SR), enabling concurrent assessment of embryonic chromosomal integrity and precise differentiation between euploid embryos and balanced translocation carriers.</p><p><strong>Cases presentation: </strong>Cases 1-2 exhibited Y-autosomal translocations with breakpoints localized to the azoospermia factor critical region, while cases 3-4 demonstrated X-autosomal translocations where breakpoints mapped outside ovarian functional domains (Xq13-q28). Embryo selection utilizing SNP-based PGT-SR achieved clinical transfer of euploid embryos lacking the parental translocation in cases 2 and 4. Case 3, following multidisciplinary counseling, opted for transfer of a balanced translocation carrier euploid embryo with conserved genomic architecture. Prenatal diagnostic evaluations demonstrated complete concordance with PGT-SR outcomes.</p><p><strong>Conclusion: </strong>The impact of chromosomal translocation on reproduction is contingent upon whether the breakpoint location influences critical functional regions. SNP-based PGT-SR can accurately determine the genetic status of embryos exhibiting balanced X/Y-autosomal translocations by systematically evaluating the integrity of the embryo's genetic material. This approach enhances detection accuracy and mitigates the risk of transmitting the translocation to subsequent generations.</p>","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":" ","pages":"112-124"},"PeriodicalIF":1.3,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145291620","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
Karyoevolutionary Processes in Atlantic Damselfishes of the Genus Stegastes (Pomacentridae). 大西洋豆娘鱼(豆娘科)的核进化过程。
IF 1.3 4区 生物学
Cytogenetic and Genome Research Pub Date : 2026-01-01 Epub Date: 2025-09-05 DOI: 10.1159/000548331
Marsílio S P Rocha, Gideão W W F Costa, Marcelo B Cioffi, Luiz A C Bertollo, Vanessa C S Oliveira, Karlla D J Amorim, Wagner F Molina
{"title":"Karyoevolutionary Processes in Atlantic Damselfishes of the Genus <italic>Stegastes</italic> (Pomacentridae).","authors":"Marsílio S P Rocha, Gideão W W F Costa, Marcelo B Cioffi, Luiz A C Bertollo, Vanessa C S Oliveira, Karlla D J Amorim, Wagner F Molina","doi":"10.1159/000548331","DOIUrl":"10.1159/000548331","url":null,"abstract":"<p><strong>Background: </strong>The damselfishes, an extremely diverse group of herbivorous fish, stands out as an important and ubiquitous ecological component of coral reefs. In the Western South Atlantic, the genus Stegastes is the most representative, whose evolutionary paths and taxonomic status of insular endemic species have been better evaluated. To clarify the karyotypic evolution involved in the diversification of this group, cytogenetic analyses were performed in four nominal species (Stegastes variabilis and Stegastes fuscus, distributed in Brazilian coastal regions; Stegastes rocasensis and Stegastes sanctipauli, from Rocas Atoll and São Paulo and São Pedro Archipelago) and one subspecies (S. fuscus trindadensis, from Trindade and Martim Vaz Archipelago).</p><p><strong>Results: </strong>Classical cytogenetic protocols and fluorescence in situ hybridization (FISH) with 18S and 5S rDNA probes were used for comparative analyses. All species had 2n = 48 chromosomes, with high FN values ranging from 88 to 92. Stegastes rocasensis and S. sanctipauli shared identical cytogenetic patterns, while S. f. trindadensis revealed a syntenic arrangement of 18S and 5S rDNA sites not found in S. fuscus from the Brazilian coast.</p><p><strong>Conclusion: </strong>The karyotypic evolution of Stegastes was predominantly driven by multiple pericentric inversions (and/or centromere shifts), resulting in changes in the internal organization of chromosomes. S. rocasensis and S. sanctipauli have similar cytogenetical patterns, as well as S. fuscus and S. f. trindadensis indicating incipient evolutionary differentiation in insular species. Mapping other repetitive DNA sequences provided an exceptional opportunity to clarify chromosomal changes and their association with the evolutionary diversification of Stegastes species.</p>","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":" ","pages":"20-29"},"PeriodicalIF":1.3,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145005926","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
Deciphering the Structural Variants by Long-Read Genome Sequencing: Technology, Applications, and Case Illustrations. 通过长读基因组测序破译结构变异:技术、应用和案例说明。
IF 1.3 4区 生物学
Cytogenetic and Genome Research Pub Date : 2026-01-01 Epub Date: 2025-10-30 DOI: 10.1159/000549245
Usha R Dutta, Ashwin Dalal
{"title":"Deciphering the Structural Variants by Long-Read Genome Sequencing: Technology, Applications, and Case Illustrations.","authors":"Usha R Dutta, Ashwin Dalal","doi":"10.1159/000549245","DOIUrl":"10.1159/000549245","url":null,"abstract":"<p><strong>Background: </strong>Structural variants (SVs) are defined as genomic variants affecting more than 50 base pairs. They include deletions, insertions, inversions, translocations, tandem repeats, and copy number variations. These SVs contribute significantly to genetic complexity and are involved in human evolution, genetic disorders, and cancer. Over 50% of the SVs cannot be detected due to limitations in methods and technologies. The short-read sequencing technologies (SRSs) are limited in detecting single-nucleotide variants and have limited usage for analysis of complex genomic loci, repeat regions, and phasing.</p><p><strong>Summary: </strong>The advent of long-read sequencing (LRS) technologies, such as Oxford Nanopore and PacBio, has revolutionized SV detection. These platforms enable the accurate characterization of diverse variant types, ranging from simple deletions to complex chromothripsis events, and support de novo assembly, haplotype phasing, and the resolution of repetitive or structurally complex genomic regions. One major outcome is the completion of the telomere-to-telomere human reference genome. This review summarizes recent advances in LRS for SV detection, including sequencing platforms, bioinformatic tools, data analysis, and validation strategies. The clinical applications, particularly in the diagnosis of rare diseases, are illustrated with two cases that were successfully resolved using both LRS approaches.</p><p><strong>Key message: </strong>LRS can overcome the limitations of SRS in SV detection, providing more accurate insights into genome disorders. It enables the detection of repeat and difficult-to-resolve regions of the genome and facilitates clinical diagnoses to base-level breakpoint detection. Despite challenges such as high cost, data interpretation, and clinical linking, continued advancements are elevating LRS as an invaluable tool in precision genomic medicine.</p>","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":" ","pages":"96-111"},"PeriodicalIF":1.3,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145408494","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
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