Cytogenetic and Genome Research最新文献

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Erratum. 勘误表。
IF 1.7 4区 生物学
Cytogenetic and Genome Research Pub Date : 2025-05-14 DOI: 10.1159/000545515
{"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}
引用次数: 0
Jumping translocation of 3q in a patient with Mantle Cell Lymphoma: A case report and review of the literature. 套细胞淋巴瘤患者3q跳位1例报告及文献复习。
IF 1.7 4区 生物学
Cytogenetic and Genome Research Pub Date : 2025-05-08 DOI: 10.1159/000546297
Elisavet Kouvidi, Georgios Boutsikas, Theofanis Giannikos, Marina Kalomoiraki, Ioanna Haralampous, Dimitra Boulari, Maria Dandoulaki, Maria Roumelioti, Paschalina Pallaki, Ioannis Anagnostopoulos
{"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":"https://doi.org/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":"1-12"},"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}
引用次数: 0
Detection and genetic analysis of small supernumerary marker chromosomes in prenatal diagnosis. 产前诊断中小多余标记染色体的检测与遗传分析。
IF 1.7 4区 生物学
Cytogenetic and Genome Research Pub Date : 2025-04-29 DOI: 10.1159/000546051
Jiangfeng Qin, Yanfei Zeng, Yinghua Luo, Biyu Lu, Jiaolian Ya, Pengfei Cai, Ling Zhang, Yan Mei, Dejian Yuan, Xiaoni Wei, Yuchan Xu
{"title":"Detection and genetic analysis of small supernumerary marker chromosomes in prenatal diagnosis.","authors":"Jiangfeng Qin, Yanfei Zeng, Yinghua Luo, Biyu Lu, Jiaolian Ya, Pengfei Cai, Ling Zhang, Yan Mei, Dejian Yuan, Xiaoni Wei, Yuchan Xu","doi":"10.1159/000546051","DOIUrl":"https://doi.org/10.1159/000546051","url":null,"abstract":"<p><strong>Introduction: </strong>Small supernumerary marker chromosomes (sSMCs) are small structurally abnormal chromosomes whose origin and structure are difficult to determine by conventional cytogenetic banding techniques. To analyze sSMCs discovered in prenatal diagnosis, explore the origin and clinical significance of fetal sSMCs, and inform genetic counseling and reproductive health care.</p><p><strong>Methods: </strong>Karyotyping was performed on pregnant women who underwent prenatal diagnosis in a Chinese hospital between April 2018 and April 2024. The sSMC cases encountered were further analyzed using copy number variation sequencing (CNV-seq) to determine the origin of the sSMCs and assess their clinical significance. Uniparental disomy (UPD) was excluded in the families with de novo sSMC cases using multiplex fluorescence PCR and capillary electrophoresis.</p><p><strong>Results: </strong>Out of 30,114 prenatal samples, 30 cases of sSMCs were identified, yielding a detection rate of 0.10%. Family analysis was performed on 23 of these cases, revealing 4 cases inherited and 19 cases of de novo mutations. CNV-seq was conducted on 27 cases, with 14 showing no abnormalities and 13 exhibiting copy number variations. Among the 10 cases where the origin of the sSMC was clearly identified, the duplications involved chromosomes 4, 10, 12, 15, 18, X, and Y, with pathogenic CNVs accounting for 70.0% (7/10) and variants of uncertain clinical significance accounting for 30.0% (3/10). Out of the 30 women with sSMCs detected, 13 chose to terminate the pregnancy, representing 43.3% (13/30). A follow-up was conducted on 13 de novo sSMC cases that were negative for CNV-seq. Among the live-born fetuses, all except one, who presented with speech delay, showed normal clinical features. UPD testing was successfully performed on 3 families (including the 3-year-old girl with speech delay), and all results were negative.</p><p><strong>Conclusions: </strong>Utilizing both karyotyping and molecular genetic testing is advantageous for effectively screening and identifying sSMCs. CNV-Seq is recommended as an important supplementary method for sSMC identification, thereby providing more detailed genetic counseling for prenatal diagnosis.</p>","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":" ","pages":"1-20"},"PeriodicalIF":1.7,"publicationDate":"2025-04-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143987128","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
Variation and morphological manifestation of germline restricted chromosomes in three species of leaf warblers of genus Phylloscopus. 三种叶莺种系限制染色体的变异及形态表现。
IF 1.7 4区 生物学
Cytogenetic and Genome Research Pub Date : 2025-04-29 DOI: 10.1159/000545903
Irina Ayvazyan, Ruzanna Petrosyan, Emma Khachatrian, Lianna Virabyan, Tigran Abgaryan, Zhenya Poghosyan, Yana Dombrovskaya, Marko Rakovic, Victor Spangenberg
{"title":"Variation and morphological manifestation of germline restricted chromosomes in three species of leaf warblers of genus Phylloscopus.","authors":"Irina Ayvazyan, Ruzanna Petrosyan, Emma Khachatrian, Lianna Virabyan, Tigran Abgaryan, Zhenya Poghosyan, Yana Dombrovskaya, Marko Rakovic, Victor Spangenberg","doi":"10.1159/000545903","DOIUrl":"https://doi.org/10.1159/000545903","url":null,"abstract":"<p><strong>Introduction: </strong>Germline restricted chromosomes are considered as a rather ancient element in the genomes of passerine birds. Obviously, detailed comparative studies on model groups including closely related species are required for a better understanding of GRC evolution. It is especially interesting if GRCs in such closely related species have acquired significant differences.</p><p><strong>Methods: </strong>Analysis of synaptonemal complexes in spread nuclei of primary spermatocytes using immunocytochemical techniques and fluorescent microscopy were applied.</p><p><strong>Results: </strong>Therefore, in this work we compared three taxonomically close species of the genus Phylloscopus: Ph. sindianus lorenzii, Ph. collybita menzbieri and Ph. nitidus, with differences in morphological manifestation of GRCs: macro- and micro-GRCs. We were able to trace the morphological transformations of macro-GRC at stages from leptotene to diplotene, and describe the complex structure of this chromosome in Ph. nitidus.</p><p><strong>Conclusion: </strong>We hope that the taxonomic group under study can become a convenient model for comparative studies of GRCs in closely related species in order to understand the evolution of these unusual chromosomes.</p>","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":" ","pages":"1-13"},"PeriodicalIF":1.7,"publicationDate":"2025-04-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143989335","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
Diversity of telomeric sequences in true bugs (Heteroptera): new data on the infraorders Pentatomomorpha and Cimicomorpha. 真蝽(异翅目)端粒序列的多样性:下目五形目和拟形目的新资料。
IF 1.7 4区 生物学
Cytogenetic and Genome Research Pub Date : 2025-04-24 DOI: 10.1159/000545902
Valentina Kuznetsova, Natalia Golub, Boris Anokhin, Desislava Stoianova, Vladimir Lukhtanov
{"title":"Diversity of telomeric sequences in true bugs (Heteroptera): new data on the infraorders Pentatomomorpha and Cimicomorpha.","authors":"Valentina Kuznetsova, Natalia Golub, Boris Anokhin, Desislava Stoianova, Vladimir Lukhtanov","doi":"10.1159/000545902","DOIUrl":"https://doi.org/10.1159/000545902","url":null,"abstract":"<p><strong>Introduction: </strong>Telomeric sequences are stable parts of the genome and are widely conserved among higher-level taxa (e.g., TTAGG in insects and other arthropods), although exceptions are known and their numbers are increasing with research. The true bug suborder Heteroptera (Hemiptera) includes more than 40,000 species in about 100 families, classified into seven infraorders. Four different telomeric motifs are currently known in Heteroptera, including (TTAGG)n, (TTAGGGATGG)n, (TTAGGGGTGG)n, and (TTAGGGTGGT)n. The canonical \"insect\" motif (TTAGG)n was found in representatives of two infraorders, Nepomorpha and Cimicomorpha. Derived motifs were found in a few species previously known as TTAGG-negative in the evolutionarily advanced sister infraorders Cimicomorpha and Pentatomomorpha (= Terheteroptera). Here, we studied telomeric motifs in 20 species of true bugs belonging to 10 families of Terheteroptera.</p><p><strong>Methods: </strong>We used fluorescence in situ hybridization (FISH) with the \"insect\" telomeric probe (TTAGG)n and an alternative probe (TTAGGGATGG)n to map the distribution of telomeric sequences in the chromosomes of 8 species of Pentatomomorpha (from the families Pentatomidae, Rhopalidae, Lygaeidae, Geocoridae, and Blissidae). We also analyzed chromosome-level genome assemblies available in the NCBI database for another 4 species of Pentatomomorpha (from Alydidae, Coreidae, and Pentatomidae) and 8 species of Cimicomorpha (from Reduviidae, Miridae, and Anthocoridae).</p><p><strong>Results: </strong>Overall, we identified telomeric sequences in all but one (Geocoris dispar; Geocoridae) species. The telomeric motif (TTAGGGATGG)n was detected in both Cimicomorpha (in the families Anthocoridae and Miridae) and Pentatomomorpha (in Blissidae, Lygaeidae, Pentatomidae, and Rhopalidae); the motif (TTAGGGGTGG)n was found only in Pentatomomorpha (in Alydidae, Coreidae, and Pentatomidae); and the canonical \"insect\" motif (TTAGG)n was found in the family Reduviidae (Cimicomorpha). With our new data, telomeric motifs are now known for 40 species of true bugs from 30 genera, 13 families and 3 infraorders, including Nepomorpha, Cimicomorpha, and Pentatomomorpha. Non-canonical motifs are found so far only in the Terheteroptera clade and are dominant in this group, with (TTAGGGATGG)n leading.</p><p><strong>Conclusions: </strong>Our new data have expanded the understanding of telomere composition and evolution in Cimicomorpha and Pentatomomorpha and suggested that (TTAGGGATGG)n telomeric sequences can be considered ancestral for the entire clade Terheteroptera.</p>","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":" ","pages":"1-22"},"PeriodicalIF":1.7,"publicationDate":"2025-04-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143985943","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
Kallmann Syndrome due to Balanced X Chromosomal Pericentric Inversion Disrupting ANOS1. 平衡X染色体中心周围反转干扰ANOS1引起的Kallmann综合征。
IF 1.7 4区 生物学
Cytogenetic and Genome Research Pub Date : 2025-04-22 DOI: 10.1159/000545695
Michihiko Aramaki, Takashi Hamajima, Erina Suzuki, Maki Fukami, Keiko Matsubara
{"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":"1-6"},"PeriodicalIF":1.7,"publicationDate":"2025-04-22","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}
引用次数: 0
New Insights into Chromosomal Regions 15p11.2-15q11.2 by Studying Submicroscopic Variations Using Molecular Cytogenetics. 利用分子细胞遗传学研究亚微观变异对染色体区域15p11.2至15q11.2的新见解。
IF 1.7 4区 生物学
Cytogenetic and Genome Research Pub Date : 2025-04-17 DOI: 10.1159/000545602
Maria N Correia, Stefanie Kankel, Isabel M Carreira, Joana B Melo, Thomas Liehr
{"title":"New Insights into Chromosomal Regions 15p11.2-15q11.2 by Studying Submicroscopic Variations Using Molecular Cytogenetics.","authors":"Maria N Correia, Stefanie Kankel, Isabel M Carreira, Joana B Melo, Thomas Liehr","doi":"10.1159/000545602","DOIUrl":"10.1159/000545602","url":null,"abstract":"<p><strong>Introduction: </strong>The chromosome region 15p11.2-15q11.2 contains heterochromatic and euchromatic DNA segments. Heteromorphisms in 15p11.2-15q11.1 have been reported, as has been a euchromatic variant (EV) region in 15q11.2.</p><p><strong>Methods: </strong>Fluorescence in situ hybridization (FISH) was used to examine the genomic regions 15p11.2-15q11.2 in parallel and at the single-cell level. A total of 44 cases with normal chromosomes 15 were examined, including 38 cases with a small supernumerary marker chromosome 15 (sSMC(15)). Combined five-color FISH probe sets A and B were developed, which include probe mixtures for the positions 8.7-20.7 Mb and 22.262115-23.863963 Mb (GRCh37/hg19).</p><p><strong>Results: </strong>Therefore, the frequencies of the 15p11.2-15q11.1 heteromorphisms for D15Z1, D15Z3, and D15Z4 were determined at 16%, 7.4%, and 13.5%, respectively. Copy number gains or losses in the EV region 15q11.2 were most frequently observed at positions 22.262115-22.826598 (GRCh37/hg19); overall, copy number variants in 15q11.2 were observed in 41% of the chromosomes 15 examined. Furthermore, it became clear that more attention needs to be paid to the exact characterization of breakpoints in sSMC(15) cases. It was shown that the breakpoint clusters involved in sSMC formation differ from those responsible for microdeletions associated with Prader-Willi/Angelman syndrome. Interestingly, at least 25% of the sSMC(15) cases studied here were formed by an interchromosomal U-type exchange. This group also included two previously unrecognized asymmetric sSMCs.</p><p><strong>Conclusion: </strong>In summary, the detailed investigation of the chromosomal regions 15p11.2-15q11.2 using molecular cytogenetics has provided new insights into the formation of sSMC(15) and submicroscopic variations in this region.</p>","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":" ","pages":"1-13"},"PeriodicalIF":1.7,"publicationDate":"2025-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143986389","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
Some Peculiarities of MLH1 Foci Distribution in Common Degu (Octodon degus, Rodentia: Octodontidae) Chromosomes: Presence in Pericentromeric Regions and Absence in XY. MLH1在普通章鱼(dedon degus, rodenya: Octodontidae)染色体中分布的一些特点:存在于中心点周围区域而不存在于XY。
IF 1.7 4区 生物学
Cytogenetic and Genome Research Pub Date : 2025-04-16 DOI: 10.1159/000545928
Tatiana Bikchurina, Ekaterina Grishko, Daria Odnoprienko, Pavel Borodin
{"title":"Some Peculiarities of MLH1 Foci Distribution in Common Degu (Octodon degus, Rodentia: Octodontidae) Chromosomes: Presence in Pericentromeric Regions and Absence in XY.","authors":"Tatiana Bikchurina, Ekaterina Grishko, Daria Odnoprienko, Pavel Borodin","doi":"10.1159/000545928","DOIUrl":"10.1159/000545928","url":null,"abstract":"<p><strong>Introduction: </strong>Meiotic recombination is one of the major sources of genetic diversity. Understanding the cytogenetic basis for recombination rate alterations is essential to explain the patterns of variation observed between different groups of species. Common degu (Octodon degus) is a South American rodent of the speciose and highly chromosomal variable Ctenohystrica clade, on which relatively few cytogenetic studies have been carried out. It has a mostly bi-armed karyotype, making it an interesting model for cytogenetic research.</p><p><strong>Methods: </strong>Using immunolocalization of key meiotic proteins and electron microscopy in pachytene spermatocytes, we determined the frequency and distribution of recombination events along a number of chromosome bivalents and the characteristics of sex chromosome synapsis.</p><p><strong>Results: </strong>Recombination rate of common degu was the highest among the Hystricognathi species studied. In contrast to most mammals, no pronounced recombination peaks near the telomeres were observed in degu. We detected late recombination nodules in the pericentromeric regions of some bivalents, which is a highly extraordinary pattern due to the centromere effect. Within the heterochromatic blocks located on the chromosome arms and marked by H3K9me3, one of the major constitutive heterochromatin marks, we observed a significant decrease in recombination frequency. We describe for the first time the bridge between X and Y in the late pachytene stage in common degu and the absence of late MLH1-dependent recombination nodules in the sex bivalent.</p><p><strong>Conclusion: </strong>We can assume that the absence of H3K9me3 signaling at centromeres is unrelated to the presence of MLH1 near the centromere. Findings on potential achiasmatic meiosis in common degu were discussed in relation to sex chromosome evolution.</p>","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":" ","pages":"1-12"},"PeriodicalIF":1.7,"publicationDate":"2025-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143965803","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
Atypical Presence of Interstitial Telomeric Sequences in Thamnophilus Species (Passeriformes: Thamnophilidae). 非典型存在的间质端粒序列在拟蝇物种(拟蝇目:拟蝇科)。
IF 1.7 4区 生物学
Cytogenetic and Genome Research Pub Date : 2025-04-04 DOI: 10.1159/000545469
Vitor Oliveira de Rosso, Victoria Tura, Hybraim Severo Salau, Lilian de Oliveira Machado, Fabiano Pimentel Torres, Ricardo José Gunski, Analía Del Valle Garnero
{"title":"Atypical Presence of Interstitial Telomeric Sequences in Thamnophilus Species (Passeriformes: Thamnophilidae).","authors":"Vitor Oliveira de Rosso, Victoria Tura, Hybraim Severo Salau, Lilian de Oliveira Machado, Fabiano Pimentel Torres, Ricardo José Gunski, Analía Del Valle Garnero","doi":"10.1159/000545469","DOIUrl":"10.1159/000545469","url":null,"abstract":"<p><strong>Introduction: </strong>Thamnophilidae (typical antbirds) are a diverse family of insectivorous passerine birds restricted to neotropical forests, encompassing 237 species, of which only 5 have been studied cytogenetically.</p><p><strong>Methods: </strong>To investigate the chromosomal evolution of this group, we applied classical and molecular cytogenetic techniques, including conventional staining, C-banding, and fluorescence in situ hybridization with probes for repetitive telomeric sequences (TTAGGG)5 and 18S rDNA, in two representative species: Thamnophilus caerulescens and Thamnophilus ruficapillus.</p><p><strong>Results: </strong>The karyotypes of T. caerulescens and T. ruficapillus comprise 80 and 82 chromosomes, respectively. In addition to a possible fission in T. ruficapillus, morphological differences suggest the occurrence of pericentric inversions in the chromosomes of this species. The patterns of constitutive heterochromatin differed between the species: both showed centromeric markings and heterochromatin on the W chromosome, but T. ruficapillus also exhibited interstitial markings on seven chromosomal pairs. Both species presented interstitial telomeric sequences (ITSs) in the first seven pairs, which corresponded to constitutive heterochromatin in T. ruficapillus. The 18S rDNA probe hybridized to a single pair of microchromosomes in T. caerulescens and two pairs in T. ruficapillus.</p><p><strong>Conclusion: </strong>This study revealed novel patterns of constitutive heterochromatin in T. ruficapillus and ITSs in both species, which have not been previously observed in Passeriformes. The correspondence between constitutive heterochromatin and ITSs in T. ruficapillus suggests that these sequences are composed of repetitive DNA highly similar to telomeric sequences and/or are remnants of pericentric inversions, whereas in T. caerulescens, other mechanisms seem to be involved. The differences in observed patterns highlight distinct chromosomal evolution between these species, emphasizing the diversity within the family Thamnophilidae and the genus Thamnophilus, in contrast to the conserved patterns typically observed in the class Aves.</p>","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":" ","pages":"1-11"},"PeriodicalIF":1.7,"publicationDate":"2025-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143794396","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
Karyotype and Repetitive DNA Analysis in Turcichondrostoma fahirae (Cypriniformes, Leuciscidae): A Step toward the Use of Molecular Cytogenetics in Taxonomy of Freshwater Fishes in Türkiye. fahrae Turcichondrostoma的核型和重复DNA分析:分子细胞遗传学在<s:1> rkiye淡水鱼分类中的应用。
IF 1.7 4区 生物学
Cytogenetic and Genome Research Pub Date : 2025-04-02 DOI: 10.1159/000544909
Güldane Gözen Tavşan, Atilla Arslan, Büşra Özçay Ekşi, Zafer Alpaslan, Emine Arslan, Alexandr Sember
{"title":"Karyotype and Repetitive DNA Analysis in Turcichondrostoma fahirae (Cypriniformes, Leuciscidae): A Step toward the Use of Molecular Cytogenetics in Taxonomy of Freshwater Fishes in Türkiye.","authors":"Güldane Gözen Tavşan, Atilla Arslan, Büşra Özçay Ekşi, Zafer Alpaslan, Emine Arslan, Alexandr Sember","doi":"10.1159/000544909","DOIUrl":"10.1159/000544909","url":null,"abstract":"<p><strong>Introduction: </strong>Türkiye houses rich freshwater ichthyofauna with many endemic species. This diversity, however, poses taxonomic challenges and leads to ongoing re-evaluations of various fish genera and species. Here, we sought to analyze the karyotype and other chromosomal characteristics of the newly erected monotypic genus Turcichondrostoma to produce and validate cytogenetic markers potentially informative for future comparative studies.</p><p><strong>Methods: </strong>We examined an endemic species Turcichondrostoma fahirae (Tefenni nase) using conventional karyotyping and chromosome banding procedures (C-, fluorescent, and silver-nitrate banding/staining), as well as chromosomal mapping of 5S/18S ribosomal DNA (rDNA), U1/U2 small nuclear DNA (snDNA), and telomeric repeats.</p><p><strong>Results: </strong>A diploid chromosome number (2n) of T. fahirae was 50, consistent with conservative leuciscid pattern. The karyotype was composed of 12 metacentric, 22 submetacentric, 10 subtelocentric, and 6 acrocentric chromosomes. Low amount of constitutive heterochromatin was distributed almost exclusively across the pericentromeric regions of all chromosomes, with the most prominent C-bands being placed on a single chromosome pair carrying nucleolar organizer region (NOR). NORs (visualized consistently by silver-nitrate staining, chromomycin A3, and fluorescence in situ hybridization) exhibited marked size heteromorphism and were adjacent to a more centromere-proximal 5S rDNA site on the long arm. Additional 5S rDNA clusters occupied short arms of four acrocentric chromosomes, and another single subtelocentric pair carried a single co-localized U1/U2 snDNA site. No interstitial telomeric sequences were detected.</p><p><strong>Conclusion: </strong>We performed a pioneer molecular cytogenetic study in Turkish freshwater fish species and our data suggest that molecular cytogenetic markers will aid in future taxonomic comparisons. Our findings further corroborate conserved karyotype structure of leuciscid fishes in general.</p>","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":" ","pages":"1-12"},"PeriodicalIF":1.7,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143771494","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}
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