Cytogenetic and Genome Research最新文献

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Oxana L. Kolomiets: 42 Years at the Forefront of Meiotic Chromosome Study. 奥克萨娜-科洛米耶茨(Oxana L. Kolomiets):42 年来站在减数分裂染色体研究的最前沿。
IF 1.3 4区 生物学
Cytogenetic and Genome Research Pub Date : 2025-01-01 Epub Date: 2025-02-10 DOI: 10.1159/000544096
Sergey N Matveevsky, Tatiana M Grishaeva, Victor E Spangenberg, Igor S Mazheika, Yuri F Bogdanov
{"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":"10.1159/000544096","url":null,"abstract":"","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":" ","pages":"111-117"},"PeriodicalIF":1.3,"publicationDate":"2025-01-01","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}
引用次数: 0
Toward a Comprehensive Overview of Cytogenomics in the Galliformes: A Focus on Western Capercaillie and Hazel Grouse Karyotypes. 加利形目细胞基因组学研究综述:以西部长尾松鸡和榛子松鸡核型为中心。
IF 1.3 4区 生物学
Cytogenetic and Genome Research Pub Date : 2025-01-01 Epub Date: 2025-03-11 DOI: 10.1159/000545036
Anastasia A Proskuryakova, Anastasia A Proskuryakova, Ekaterina S Ivanova, Svetlana Galkina, Violetta R Beklemisheva, Maria M Kulak, Natalia A Serdyukova, Vladimir A Yudkin, Rebecca O'Connor, Darren K Griffin, Alexander S Graphodatsky
{"title":"Toward a Comprehensive Overview of Cytogenomics in the Galliformes: A Focus on Western Capercaillie and Hazel Grouse Karyotypes.","authors":"Anastasia A Proskuryakova, Anastasia A Proskuryakova, Ekaterina S Ivanova, Svetlana Galkina, Violetta R Beklemisheva, Maria M Kulak, Natalia A Serdyukova, Vladimir A Yudkin, Rebecca O'Connor, Darren K Griffin, Alexander S Graphodatsky","doi":"10.1159/000545036","DOIUrl":"10.1159/000545036","url":null,"abstract":"<p><strong>Introduction: </strong>The Phasianidae family belongs to Galliformes, which is basal to other Neognathae. Despite the availability of chromosome-level genome assemblies for many Phasianidae species, the karyotypes for some species remain poorly investigated.</p><p><strong>Methods: </strong>In this study, we described karyotypes using classical, differential, and molecular cytogenetic (BAC-FISH) methods. To compare chromosome-level genomes of 10 Galliformes species dot-plot analysis was performed.</p><p><strong>Results: </strong>We provide the first comprehensive description of the karyotype of two Tetraonini species: the western capercaillie (Tetrao urogallus, 2n = 78) and the hazel grouse (Tetrastes bonasia, 2n = 80). We mapped chicken BAC clones (CHORI-261) with known coordinates to the chromosomes of the western capercaillie and Japanese quail (Coturnix japonica, 2n = 78) to anchor physical chromosomes to chromosome-level assemblies. Finally, we performed dot-plot comparisons of ten available chromosome-level genome assemblies to identify inter- and intrachromosomal rearrangements in Galliformes.</p><p><strong>Conclusion: </strong>We show that the centromeric fusion of orthologs of GGA6 and GGA8 is shared by all analyzed species in the tetraonid clade: T. urogallus, T. bonasia, and Lagopus muta. We identified linage-specific intrachromosomal rearrangements on chromosomes orthologs to chicken Z (Phasianinae and Tetraoninae), 7 and 12 (Phasianinae and Tetraoninae), 5 and 13 (Perdicinae), 22 (Alectoris). Our study shows that analysis of the genomes of several closely related species allows us to identify chromosomal rearrangements characteristic of individual evolutionary lines.</p>","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":" ","pages":"206-218"},"PeriodicalIF":1.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143604276","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
Fluorescence in situ Hybridization Analysis Can Reveal Subtle Chromosomal Rearrangements in Pericentromeric Regions of Acrocentric Chromosomes in Patients with Reproductive Failure. FISH分析可以揭示生殖失败患者的远中心染色体近中心区域的细微染色体重排。
IF 1.3 4区 生物学
Cytogenetic and Genome Research Pub Date : 2025-01-01 Epub Date: 2025-07-28 DOI: 10.1159/000547638
Yusuf Bahap, Mehmet Ali Ergun, Esra Tug, Thomas Liehr, Meral Yirmibes Karaoguz
{"title":"Fluorescence <italic>in situ</italic> Hybridization Analysis Can Reveal Subtle Chromosomal Rearrangements in Pericentromeric Regions of Acrocentric Chromosomes in Patients with Reproductive Failure.","authors":"Yusuf Bahap, Mehmet Ali Ergun, Esra Tug, Thomas Liehr, Meral Yirmibes Karaoguz","doi":"10.1159/000547638","DOIUrl":"10.1159/000547638","url":null,"abstract":"<p><strong>Introduction: </strong>Infertility and recurrent pregnancy loss are serious health problems often associated with genetic abnormalities such as chromosomal rearrangements. Although conventional cytogenetics plays a crucial role in this kind of diagnostics, it fails to detect submicroscopic changes, especially in the pericentromeric regions of acrocentric chromosomes, which are potentially prone to rearrangement. To overcome this limitation, this study aimed to identify such subtle changes that can lead to reproductive disorders using fluorescence in situ hybridization (FISH) technique and newly developed fluorescence probes that specifically target these regions.</p><p><strong>Methods: </strong>The study group consisted of 50 couples who, despite having unprotected sexual intercourse, had been unable to conceive for more than a year or had suffered two or more miscarriages and had been unable to carry a pregnancy to term. After exclusion of cytogenetically visible chromosomal alterations, patients were subjected to FISH analysis with three newly designed probe sets that stain the centromere and pericentromere regions of acrocentric chromosomes 13 and 21 (SET-I), 14 and 22 (SET-II), and 15 (SET-III).</p><p><strong>Results: </strong>FISH analysis of SET-II and SET-III probes revealed a cryptic reciprocal translocation between chromosomes 15 and 22 in a 33-year-old male. His female cousin was also found to be a carrier of the same translocation and had a dysmorphic child due to adjacent II missegregation.</p><p><strong>Conclusion: </strong>Subtle chromosomal changes, such as reciprocal translocations in our patients, may be one of the underlying causes of unbalanced gametes in reproductive disorders. The use of three newly designed FISH probe sets may need to be considered to offer comprehensive prenatal and preimplantation genetic testing to couples with reproductive failure.</p>","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":" ","pages":"307-315"},"PeriodicalIF":1.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144728574","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 1.3 4区 生物学
Cytogenetic and Genome Research Pub Date : 2025-01-01 Epub Date: 2025-04-16 DOI: 10.1159/000545928
Tatiana Bikchurina, Tatiana Bikchurina, Ekaterina Grishko, Daria Odnoprienko, Pavel Borodin
{"title":"Some Peculiarities of MLH1 Foci Distribution in Common Degu (<italic>Octodon degus</italic>, Rodentia: Octodontidae) Chromosomes: Presence in Pericentromeric Regions and Absence in XY.","authors":"Tatiana Bikchurina, 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":"128-139"},"PeriodicalIF":1.3,"publicationDate":"2025-01-01","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
Chromosomal and Cellular Insights into Sexual Reproduction and Evolution: A Special Issue Honoring Professor Oxana L. Kolomiets. 染色体和细胞对有性生殖和进化的见解:特刊纪念Oxana L. Kolomiets教授。
IF 1.3 4区 生物学
Cytogenetic and Genome Research Pub Date : 2025-01-01 Epub Date: 2025-07-28 DOI: 10.1159/000547507
Vladimir Trifonov, Sergey Matveevsky
{"title":"Chromosomal and Cellular Insights into Sexual Reproduction and Evolution: A Special Issue Honoring Professor Oxana L. Kolomiets.","authors":"Vladimir Trifonov, Sergey Matveevsky","doi":"10.1159/000547507","DOIUrl":"10.1159/000547507","url":null,"abstract":"","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":" ","pages":"107-110"},"PeriodicalIF":1.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144728573","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 1.3 4区 生物学
Cytogenetic and Genome Research Pub Date : 2025-01-01 Epub 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":"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)<sub>n</sub>, (TTAGGGATGG)<sub>n</sub>, (TTAGGGGTGG)<sub>n</sub>, and (TTAGGGTGGT)<sub>n</sub>. The canonical \"insect\" motif (TTAGG)<sub>n</sub> 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 with the \"insect\" telomeric probe (TTAGG)<sub>n</sub> and an alternative probe (TTAGGGATGG)<sub>n</sub> 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)<sub>n</sub> was detected in both Cimicomorpha (in the families Anthocoridae and Miridae) and Pentatomomorpha (in Blissidae, Lygaeidae, Pentatomidae, and Rhopalidae); the motif (TTAGGGGTGG)<sub>n</sub> was found only in Pentatomomorpha (in Alydidae, Coreidae, and Pentatomidae); and the canonical \"insect\" motif (TTAGG)<sub>n</sub> 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. Noncanonical motifs are found so far only in the Terheteroptera clade and are dominant in this group, with (TTAGGGATGG)<sub>n</sub> leading.</p><p><strong>Conclusion: </strong>Our new data have expanded the understanding of telomere composition and evolution in Cimicomorpha and Pentatomomorpha and suggested that (TTAGGGATGG)<sub>n</sub> telomeric sequences can be considered ancestral for the entire clade Terheteroptera.</p>","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":" ","pages":"192-205"},"PeriodicalIF":1.3,"publicationDate":"2025-01-01","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
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 : 2025-01-01 Epub 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":"57-69"},"PeriodicalIF":1.7,"publicationDate":"2025-01-01","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
Concerted Evolution of Genus-Specific Centromeric Satellite DNA in Eremias (Lacertidae, Reptilia). 爬虫科狼蛛属特异性着丝粒卫星DNA的协同进化。
IF 1.3 4区 生物学
Cytogenetic and Genome Research Pub Date : 2025-01-01 Epub Date: 2025-03-17 DOI: 10.1159/000543883
Artem Lisachov, Lada Lisachova, Artem Lisachov, Svetlana Romanenko, Guzel Davletshina, Marie Altmanová, Michail Rovatsos, Lukáš Kratochvíl, Massimo Giovannotti, Roman Nazarov, Igor Okshtein, Vladimir Trifonov
{"title":"Concerted Evolution of Genus-Specific Centromeric Satellite DNA in <italic>Eremias</italic> (Lacertidae, Reptilia).","authors":"Artem Lisachov, Lada Lisachova, Artem Lisachov, Svetlana Romanenko, Guzel Davletshina, Marie Altmanová, Michail Rovatsos, Lukáš Kratochvíl, Massimo Giovannotti, Roman Nazarov, Igor Okshtein, Vladimir Trifonov","doi":"10.1159/000543883","DOIUrl":"10.1159/000543883","url":null,"abstract":"<p><strong>Background: </strong>Tandemly repeated satellite DNA sequences are an important part of animal genomes. They are involved in chromosome interactions and the maintenance of the integral structure of the nucleus, regulation of chromatin conformation and gene expression, and chromosome condensation and movement during cell division. Satellite DNAs located in the centromeric heterochromatin evolve rapidly and likely affect hybrid fertility and fitness. However, their studies are taxonomically highly biased. In lacertid lizards, satDNA has been extensively studied in the subfamily Lacertinae, but the subfamily Eremiadinae has been largely overlooked.</p><p><strong>Results: </strong>In this work, we describe a novel 177-bp-long centromeric satDNA family EremSat177, which is present in all studied species of the genus Eremias, but not in related genera. EremSat177 is not homologous to any previously identified centromeric satellites. Using fluorescence in situ hybridization, we demonstrate its centromeric localization in E. velox and E. arguta. We also show its tandem organization and intra-genomic homogenization by in silico analysis in the genome of E. argus. The phylogenetic analysis of consensus EremSat177 sequences from 12 Eremias species demonstrates that the same monomer subfamily is the most abundant in all these species, and its evolution mainly follows the species phylogeny as revealed by the mtDNA sequences.</p><p><strong>Conclusion: </strong>The EremSat177 represents a novel, lineage-specific centromeric satellite DNA, and its role in centromere functioning should be revealed in further research.</p>","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":" ","pages":"149-161"},"PeriodicalIF":1.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143646863","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
Fertility Cost (or Sometimes a Lack of It) in Relation to Heterozygosity for Robertsonian Rearrangements in Mammals: A Review. 哺乳动物罗伯逊重排的杂合性与生育成本(或缺乏生育成本)的关系:综述。
IF 1.3 4区 生物学
Cytogenetic and Genome Research Pub Date : 2025-01-01 Epub Date: 2025-05-30 DOI: 10.1159/000546385
Jeremy B Searle, Jonathan J Hughes
{"title":"Fertility Cost (or Sometimes a Lack of It) in Relation to Heterozygosity for Robertsonian Rearrangements in Mammals: A Review.","authors":"Jeremy B Searle, Jonathan J Hughes","doi":"10.1159/000546385","DOIUrl":"10.1159/000546385","url":null,"abstract":"<p><p><p>Background: Robertsonian (Rb) chromosomal rearrangements are very common in mammals and are the primary basis of chromosome number variation between species. The fertility of heterozygotes has particular significance in understanding the mode of fixation of Rb rearrangements, and could have a role in the attainment of reproductive isolation by chromosomally differentiated species. Summary: Here we survey available data on fertility of Rb heterozygotes in mammals, comparing with homozygotes, and considering effects on litter size, frequencies of anaphase I nondisjunction, germ cell death and pachytene features associated with that germ cell death. We consider both simple heterozygotes which form trivalent configurations at meiosis I and complex heterozygotes which form longer configurations due to heterozygosity for different chromosomes with monobrachial homology. Two species have a particularly wide variety of Rb heterozygotes and have been well studied: the house mouse (the western subspecies) and the common shrew. The overall data confirm that heterozygosity for a single Rb metacentric may be associated with near-normal fertility in mammals, though not in every instance. Usually infertility is not going to be a substantial hindrance to fixation of Rb fusions or fissions. Nor is infertility in simple heterozygotes for one or a few Rb metacentrics on its own likely to promote reproductive isolation. However, simple heterozygotes forming many meiotic trivalents and complex heterozygotes forming long meiotic configurations may suffer substantial infertility or sterility. Even so, heterozygous house mice and common shrews forming the very longest meiotic chains and rings may produce some young. We discuss the implications of these findings with regards the role of Rb rearrangements in speciation. Key Messages: Infertility due to Rb heterozygosity on its own may rarely hinder fixation of Rb rearrangements nor be sufficient to cause a complete interruption to gene flow between hybridizing chromosomal forms. However, this does not rule out a role for Rb rearrangements in speciation. Reinforcement is possible, and Rb rearrangements have the potential to act in synergy with genic incompatibilities to promote reproductive isolation. There can also be the contrary process of despeciation. Natural selection may respond in various ways to a given degree of infertility. </p>.</p>","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":" ","pages":"272-306"},"PeriodicalIF":1.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12263139/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144198461","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Zea mays Meiotic Spindle Ultrastructure Reveals Kinetochore-Microtubule Interface and Embedded Membrane Components. 玉米减数分裂纺锤体超微结构显示着丝点-微管界面和嵌入膜成分。
IF 2 4区 生物学
Cytogenetic and Genome Research Pub Date : 2025-01-01 Epub Date: 2025-07-29 DOI: 10.1159/000547002
Subin Myong, Jenna K Cosby, Brianna N Padilla, David M Opozda, Jacob D Kahn, Naima Akter, Eileen T O Apos Toole, Natalie J Nannas
{"title":"<italic>Zea mays</italic> Meiotic Spindle Ultrastructure Reveals Kinetochore-Microtubule Interface and Embedded Membrane Components.","authors":"Subin Myong, Jenna K Cosby, Brianna N Padilla, David M Opozda, Jacob D Kahn, Naima Akter, Eileen T O Apos Toole, Natalie J Nannas","doi":"10.1159/000547002","DOIUrl":"10.1159/000547002","url":null,"abstract":"<p><p><p>Introduction: Spindles are microtubules-based machines whose primary function is to accurately segregate chromosomes in both mitotic and meiotic cell division. The structure of spindles is critical for their function; errors in morphology or attachment to chromosomes lead to aneuploidy, potentially resulting in disease, infertility, and lethality. Electron microscopy studies have yielded fine-detail spindle ultrastructures in many plant and animal species, but no studies have investigated the spindle of Zea mays, a critical crop, and cytogenetic model system.</p><p><strong>Methods: </strong>Here we use electron tomography (ET), reconstruction, and modeling to obtain three-dimensional, nanometer-resolution of the Z. mays meiotic spindle. Structures such as microtubules, kinetochores, vesicles, membrane channels, and nuclear envelope were modeled through a partial spindle reconstruction, and confirmed using immunostaining and live fluorescence microscopy.</p><p><strong>Results: </strong>ET revealed that maize spindles contain 8-18 kinetochore microtubules (kMTs) per kinetochore, which are approximately 776 nm in diameter and 316 nm in depth. Small ∼37 nm vesicles were identified, as well as larger (∼5 µm long, 800 nm wide) membrane structures with channels that allow spindle microtubules to pass through. These membrane channels stain positively for the ER-marker protein disulfide isomerase. Imaging of prophase meiotic cells revealed a cross-hatch microtubule arrangement in the perinuclear ring on the external surface of the nuclear envelope, which also contained type II nuclear grooves with transnuclear microtubules passing from the nucleus to the cytoplasm.</p><p><strong>Conclusions: </strong>Z. mays meiotic spindles are similar to animal counterparts with a comparable number of kMTs and pre-spindle transnuclear microtubules but also plant-specific features such as Golgi-derived vesicles to assist cell plate formation, internal ER membrane channels, and a perinuclear microtubule ring that aids spindle assembly. Maize kinetochores have an electron-diffuse ball in cup morphology that is comparable in size to Drosophila kinetochores and larger than mammalian kinetochores. </p>.</p>","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":" ","pages":"338-354"},"PeriodicalIF":2.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12503593/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144741617","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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