Chromosome Research最新文献_第2页

Meiotic drive against chromosome fusions in butterfly hybrids. 蝴蝶杂交种染色体融合的减数分裂驱动力

IF 2.4 4区生物学

Chromosome Research Pub Date : 2024-05-04 DOI: 10.1007/s10577-024-09752-0

Jesper Boman, Christer Wiklund, Roger Vila, Niclas Backström

{"title":"Meiotic drive against chromosome fusions in butterfly hybrids.","authors":"Jesper Boman, Christer Wiklund, Roger Vila, Niclas Backström","doi":"10.1007/s10577-024-09752-0","DOIUrl":"10.1007/s10577-024-09752-0","url":null,"abstract":"Species frequently differ in the number and structure of chromosomes they harbor, but individuals that are heterozygous for chromosomal rearrangements may suffer from reduced fitness. Chromosomal rearrangements like fissions and fusions can hence serve as a mechanism for speciation between incipient lineages, but their evolution poses a paradox. How can rearrangements get fixed between populations if heterozygotes have reduced fitness? One solution is that this process predominantly occurs in small and isolated populations, where genetic drift can override natural selection. However, fixation is also more likely if a novel rearrangement is favored by a transmission bias, such as meiotic drive. Here, we investigate chromosomal transmission distortion in hybrids between two wood white (Leptidea sinapis) butterfly populations with extensive karyotype differences. Using data from two different crossing experiments, we uncover that there is a transmission bias favoring the ancestral chromosomal state for derived fusions, a result that shows that chromosome fusions actually can fix in populations despite being counteracted by meiotic drive. This means that meiotic drive not only can promote runaway chromosome number evolution and speciation, but also that it can be a conservative force acting against karyotypic change and the evolution of reproductive isolation. Based on our results, we suggest a mechanistic model for why chromosome fusion mutations may be opposed by meiotic drive and discuss factors contributing to karyotype evolution in Lepidoptera.","PeriodicalId":50698,"journal":{"name":"Chromosome Research","volume":"32 2","pages":"7"},"PeriodicalIF":2.4,"publicationDate":"2024-05-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11068667/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140867321","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

A germline chimeric KANK1-DMRT1 transcript derived from a complex structural variant is associated with a congenital heart defect segregating across five generations. 源自复杂结构变异的种系嵌合 KANK1-DMRT1 转录本与五代遗传的先天性心脏缺陷有关。

IF 2.4 4区生物学

Chromosome Research Pub Date : 2024-03-19 DOI: 10.1007/s10577-024-09750-2

Silvia Souza da Costa, Veniamin Fishman, Mara Pinheiro, Andre Rodrigueiro, Maria Teresa Sanseverino, Paulo Zielinsky, Claudia M B Carvalho, Carla Rosenberg, Ana Cristina Victorino Krepischi

{"title":"A germline chimeric KANK1-DMRT1 transcript derived from a complex structural variant is associated with a congenital heart defect segregating across five generations.","authors":"Silvia Souza da Costa, Veniamin Fishman, Mara Pinheiro, Andre Rodrigueiro, Maria Teresa Sanseverino, Paulo Zielinsky, Claudia M B Carvalho, Carla Rosenberg, Ana Cristina Victorino Krepischi","doi":"10.1007/s10577-024-09750-2","DOIUrl":"10.1007/s10577-024-09750-2","url":null,"abstract":"Structural variants (SVs) pose a challenge to detect and interpret, but their study provides novel biological insights and molecular diagnosis underlying rare diseases. The aim of this study was to resolve a 9p24 rearrangement segregating in a family through five generations with a congenital heart defect (congenital pulmonary and aortic valvular stenosis and pulmonary artery stenosis), by applying a combined genomic analysis. The analysis involved multiple techniques, including karyotype, chromosomal microarray analysis (CMA), FISH, genome sequencing (GS), RNA-seq, and optical genome mapping (OGM). A complex 9p24 SV was hinted at by CMA results, showing three interspersed duplicated segments. Combined GS and OGM analyses revealed that the 9p24 duplications constitute a complex SV, on which a set of breakpoints matches the boundaries of the CMA duplicated sequences. The proposed structure for this complex rearrangement implies three duplications associated with an inversion of ~ 2 Mb region on chromosome 9 and a SINE element insertion at the more distal breakpoint. Interestingly, this genomic structure of rearrangement forms a chimeric transcript of the KANK1/DMRT1 loci, which was confirmed by both RNA-seq and Sanger sequencing on blood samples from 9p24 rearrangement carriers. Altogether with breakpoint amplification and FISH analysis, this combined approach allowed a deep characterization of this complex rearrangement. Although the genotype-phenotype correlation remains elusive from the molecular mechanism point of view, this study identified a large genomic rearrangement at 9p24 segregating with a familial congenital heart defect, revealing a genetic biomarker that was successfully applied for embryo selection, changing the reproductive perspective of affected individuals.","PeriodicalId":50698,"journal":{"name":"Chromosome Research","volume":"32 2","pages":"6"},"PeriodicalIF":2.4,"publicationDate":"2024-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140177514","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

Divergence of 10 satellite repeats in Artemisia (Asteraceae: Anthemideae) based on sequential fluorescence in situ hybridization analysis: evidence for species identification and evolution 基于连续荧光原位杂交分析的蒿属植物（菊科：防风草属）10 个卫星重复序列的分化：物种鉴定和进化的证据

IF 2.6 4区生物学

Chromosome Research Pub Date : 2024-03-19 DOI: 10.1007/s10577-024-09749-9

Yanze He, Jun He, Yong Zhao, Shuangshuang Zhang, Xinyu Rao, Haibin Wang, Zhenxing Wang, Aiping Song, Jiafu Jiang, Sumei Chen, Fadi Chen

{"title":"Divergence of 10 satellite repeats in Artemisia (Asteraceae: Anthemideae) based on sequential fluorescence in situ hybridization analysis: evidence for species identification and evolution","authors":"Yanze He, Jun He, Yong Zhao, Shuangshuang Zhang, Xinyu Rao, Haibin Wang, Zhenxing Wang, Aiping Song, Jiafu Jiang, Sumei Chen, Fadi Chen","doi":"10.1007/s10577-024-09749-9","DOIUrl":"https://doi.org/10.1007/s10577-024-09749-9","url":null,"abstract":"Artemisia is a large genus encompassing about 400 diverse species, many of which have considerable medicinal and ecological value. However, complex morphological information and variation in ploidy level and nuclear DNA content have presented challenges for evolution studies of this genus. Consequently, taxonomic inconsistencies within the genus persist, hindering the utilization of such large plant resources. Researchers have utilized satellite DNAs to aid in chromosome identification, species classification, and evolutionary studies due to their significant sequence and copy number variation between species and close relatives. In the present study, the RepeatExplorer2 pipeline was utilized to identify 10 satellite DNAs from three species (Artemisia annua, Artemisia vulgaris, Artemisia viridisquama), and fluorescence in situ hybridization confirmed their distribution on chromosomes in 24 species, including 19 Artemisia species with 5 outgroup species from Ajania and Chrysanthemum. Signals of satellite DNAs exhibited substantial differences between species. We obtained one genus-specific satellite from the sequences. Additionally, molecular cytogenetic maps were constructed for Artemisia vulgaris, Artemisia leucophylla, and Artemisia viridisquama. One species (Artemisia verbenacea) showed a FISH distribution pattern suggestive of an allotriploid origin. Heteromorphic FISH signals between homologous chromosomes in Artemisia plants were observed at a high level. Additionally, the relative relationships between species were discussed by comparing ideograms. The results of the present study provide new insights into the accurate identification and taxonomy of the Artemisia genus using molecular cytological methods.","PeriodicalId":50698,"journal":{"name":"Chromosome Research","volume":"16 1","pages":""},"PeriodicalIF":2.6,"publicationDate":"2024-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140169714","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

Two decades of chromosomal instability and aneuploidy. 染色体不稳定和非整倍体二十年。

IF 2.6 4区生物学

Chromosome Research Pub Date : 2024-02-28 DOI: 10.1007/s10577-024-09748-w

Stefano Santaguida

引用次数: 0

KNL1 and NDC80 represent new universal markers for the detection of functional centromeres in plants KNL1 和 NDC80 是检测植物功能性中心粒的新通用标记

IF 2.6 4区生物学

Chromosome Research Pub Date : 2024-02-26 DOI: 10.1007/s10577-024-09747-x

Ludmila Oliveira, Pavel Neumann, Yennifer Mata-Sucre, Yi-Tzu Kuo, André Marques, Veit Schubert, Jiří Macas

{"title":"KNL1 and NDC80 represent new universal markers for the detection of functional centromeres in plants","authors":"Ludmila Oliveira, Pavel Neumann, Yennifer Mata-Sucre, Yi-Tzu Kuo, André Marques, Veit Schubert, Jiří Macas","doi":"10.1007/s10577-024-09747-x","DOIUrl":"https://doi.org/10.1007/s10577-024-09747-x","url":null,"abstract":"Centromere is the chromosomal site of kinetochore assembly and microtubule attachment for chromosome segregation. Given its importance, markers that allow specific labeling of centromeric chromatin throughout the cell cycle and across all chromosome types are sought for facilitating various centromere studies. Antibodies against the N-terminal region of CENH3 are commonly used for this purpose, since CENH3 is the near-universal marker of functional centromeres. However, because the N-terminal region of CENH3 is highly variable among plant species, antibodies directed against this region usually function only in a small group of closely related species. As a more versatile alternative, we present here antibodies targeted to the conserved domains of two outer kinetochore proteins, KNL1 and NDC80. Sequence comparison of these domains across more than 350 plant species revealed a high degree of conservation, particularly within a six amino acid motif, FFGPVS in KNL1, suggesting that both antibodies would function in a wide range of plant species. This assumption was confirmed by immunolabeling experiments in angiosperm (monocot and dicot) and gymnosperm species, including those with mono-, holo-, and meta-polycentric chromosomes. In addition to centromere labeling on condensed chromosomes during cell division, both antibodies detected the corresponding regions in the interphase nuclei of most species tested. These results demonstrated that KNL1 and NDC80 are better suited for immunolabeling centromeres than CENH3, because antibodies against these proteins offer incomparably greater versatility across different plant species which is particularly convenient for studying the organization and function of the centromere in non-model species.","PeriodicalId":50698,"journal":{"name":"Chromosome Research","volume":"123 1","pages":""},"PeriodicalIF":2.6,"publicationDate":"2024-02-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139968847","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 reckoning of chromosomal instability: past, present, future 染色体不稳定性的计算：过去、现在和未来

IF 2.6 4区生物学

Chromosome Research Pub Date : 2024-02-17 DOI: 10.1007/s10577-024-09746-y

Andrew Lynch, Shermineh Bradford, Mark E. Burkard

引用次数: 0

Cytological analysis of the diploid-like inheritance of newly synthesized allotetraploid wheat 对新合成的异源四倍体小麦二倍体遗传的细胞学分析

IF 2.6 4区生物学

Chromosome Research Pub Date : 2023-12-18 DOI: 10.1007/s10577-023-09745-5

{"title":"Cytological analysis of the diploid-like inheritance of newly synthesized allotetraploid wheat","authors":"","doi":"10.1007/s10577-023-09745-5","DOIUrl":"https://doi.org/10.1007/s10577-023-09745-5","url":null,"abstract":"<h3>Abstract</h3> Polyploidization is a process which is related to species hybridization and whole genome duplication. It is widespread among angiosperm evolution and is essential for speciation and diversification. Allopolyploidization is mainly derived from interspecific hybridization and is believed to pose chromosome imbalances and genome instability caused by meiotic irregularity. However, the self-compatible allopolyploid in wild nature is cytogenetically and genetically stable. Whether this stabilization form was achieved in initial generation or a consequence of long term of evolution was largely unknown. Here, we synthesized a series of nascent allotetraploid wheat derived from three diploid genomes of A, S*, and D. The chromosome numbers of the majority of the progeny derived from these newly formed allotetraploid wheat plants were found to be relatively consistent, with each genome containing 14 chromosomes. In meiosis, bivalent was the majority of the chromosome configuration in metaphase I which supports the stable chromosome number inheritance in the nascent allotetraploid. These findings suggest that diploidization occurred in the newly formed synthetic allotetraploid wheat. However, we still detected aneuploids in a proportion of newly formed allotetraploid wheat, and meiosis of these materials present more irregular chromosome behavior than the euploid. We found that centromere pairing and centromere clustering in meiosis was affected in the aneuploids, which suggest that aneuploidy may trigger the irregular interactions of centromere in early meiosis which may take participate in promoting meiosis stabilization in newly formed allotetraploid wheat.","PeriodicalId":50698,"journal":{"name":"Chromosome Research","volume":"302 5 1","pages":""},"PeriodicalIF":2.6,"publicationDate":"2023-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138717153","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

SetDB1 and Su(var)3-9 are essential for late stages of larval development of Drosophila melanogaster SetDB1和Su(var)3-9对黑腹果蝇幼虫后期发育至关重要

IF 2.6 4区生物学

Chromosome Research Pub Date : 2023-12-15 DOI: 10.1007/s10577-023-09743-7

Stanislav E. Romanov, Viktor V. Shloma, Daniil A. Maksimov, Dmitry E. Koryakov

{"title":"SetDB1 and Su(var)3-9 are essential for late stages of larval development of Drosophila melanogaster","authors":"Stanislav E. Romanov, Viktor V. Shloma, Daniil A. Maksimov, Dmitry E. Koryakov","doi":"10.1007/s10577-023-09743-7","DOIUrl":"https://doi.org/10.1007/s10577-023-09743-7","url":null,"abstract":"Methylation of H3K9 histone residue is a marker of gene silencing in eukaryotes. Three enzymes responsible for adding this modification — G9a, SetDB1/Egg, and Su(var)3-9 — are known in Drosophila. To understand how simultaneous mutations of SetDB1 and Su(var)3-9 may affect the fly development, appropriate combinations were obtained. Double mutants egg; Su(var)3-9 displayed pronounced embryonic lethality, slower larval growth and died before or during metamorphosis. Analysis of transcription in larval salivary glands and wing imaginal disks indicated that the effect of double mutation is tissue-specific. In salivary gland chromosomes, affected genes display low H3K9me2 enrichment and are rarely bound by SetDB1 or Su(var)3-9. We suppose that each of these enzymes directly or indirectly controls its own set of gene targets in different organs, and double mutation results in an imbalanced developmental program. This also indicates that SetDB1 and Su(var)3-9 may affect transcription via H3K9-independent mechanisms. Unexpectedly, in double and triple mutants, amount of di- and tri-methylated H3K9 is drastically reduced, but not completely absent. We hypothesize that this residual methylation implies the existence of additional H3K9-specific methyltransferase in Drosophila.","PeriodicalId":50698,"journal":{"name":"Chromosome Research","volume":"15 1","pages":""},"PeriodicalIF":2.6,"publicationDate":"2023-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138686091","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

Hi-C sequencing unravels dynamic three-dimensional chromatin interactions in muntjac lineage: insights from chromosome fusions in Fea's muntjac genome. Hi-C测序揭示了猕猴谱系中动态三维染色质相互作用:来自Fea猕猴基因组染色体融合的见解。

IF 2.6 4区生物学

Chromosome Research Pub Date : 2023-11-29 DOI: 10.1007/s10577-023-09744-6

Maryam Jehangir, Syed Farhan Ahmad, Worapong Singchat, Thitipong Panthum, Thanyapat Thong, Pakpoom Aramsirirujiwet, Artem Lisachov, Narongrit Muangmai, Kyudong Han, Akihiko Koga, Prateep Duengkae, Kornsorn Srikulnath

{"title":"Hi-C sequencing unravels dynamic three-dimensional chromatin interactions in muntjac lineage: insights from chromosome fusions in Fea's muntjac genome.","authors":"Maryam Jehangir, Syed Farhan Ahmad, Worapong Singchat, Thitipong Panthum, Thanyapat Thong, Pakpoom Aramsirirujiwet, Artem Lisachov, Narongrit Muangmai, Kyudong Han, Akihiko Koga, Prateep Duengkae, Kornsorn Srikulnath","doi":"10.1007/s10577-023-09744-6","DOIUrl":"10.1007/s10577-023-09744-6","url":null,"abstract":"Eukaryotes have varying numbers and structures of characteristic chromosomes across lineages or species. The evolutionary trajectory of species may have been affected by spontaneous genome rearrangements. Chromosome fusion drastically alters karyotypes. However, the mechanisms and consequences of chromosome fusions, particularly in muntjac species, are poorly understood. Recent research-based advancements in three-dimensional (3D) genomics, particularly high-throughput chromatin conformation capture (Hi-C) sequencing, have allowed for the identification of chromosome fusions and provided mechanistic insights into three muntjac species: Muntiacus muntjak, M. reevesi, and M. crinifrons. This study aimed to uncover potential genome rearrangement patterns in the threatened species Fea's muntjac (Muntiacus feae), which have not been previously examined for such characteristics. Deep Hi-C sequencing (31.42 × coverage) was performed to reveal the 3D chromatin architecture of the Fea's muntjac genome. Patterns of repeated chromosome fusions that were potentially mediated by high-abundance transposable elements were identified. Comparative Hi-C maps demonstrated linkage homology between the sex chromosomes in Fea's muntjac and autosomes in M. reevesi, indicating that fusions may have played a crucial role in the evolution of the sex chromosomes of the lineage. The species-level dynamics of topologically associated domains (TADs) suggest that TAD organization could be altered by differential chromosome interactions owing to repeated chromosome fusions. However, research on the effect of TADs on muntjac genome evolution is insufficient. This study generated Hi-C data for the Fea's muntjac, providing a genomic resource for future investigations of the evolutionary patterns of chromatin conformation at the chromosomal level.","PeriodicalId":50698,"journal":{"name":"Chromosome Research","volume":"31 4","pages":"34"},"PeriodicalIF":2.6,"publicationDate":"2023-11-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138453001","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

Fast satellite DNA evolution in Nothobranchius annual killifishes. 年生鳉鱼的快速卫星DNA进化。

IF 2.6 4区生物学

Chromosome Research Pub Date : 2023-11-21 DOI: 10.1007/s10577-023-09742-8

Anna Voleníková, Karolína Lukšíková, Pablo Mora, Tomáš Pavlica, Marie Altmanová, Jana Štundlová, Šárka Pelikánová, Sergey A Simanovsky, Marek Jankásek, Martin Reichard, Petr Nguyen, Alexandr Sember

{"title":"Fast satellite DNA evolution in Nothobranchius annual killifishes.","authors":"Anna Voleníková, Karolína Lukšíková, Pablo Mora, Tomáš Pavlica, Marie Altmanová, Jana Štundlová, Šárka Pelikánová, Sergey A Simanovsky, Marek Jankásek, Martin Reichard, Petr Nguyen, Alexandr Sember","doi":"10.1007/s10577-023-09742-8","DOIUrl":"10.1007/s10577-023-09742-8","url":null,"abstract":"Satellite DNA (satDNA) is a rapidly evolving class of tandem repeats, with some monomers being involved in centromere organization and function. To identify repeats associated with (peri)centromeric regions, we investigated satDNA across Southern and Coastal clades of African annual killifishes of the genus Nothobranchius. Molecular cytogenetic and bioinformatic analyses revealed that two previously identified satellites, designated here as NkadSat01-77 and NfurSat01-348, are associated with (peri)centromeres only in one lineage of the Southern clade. NfurSat01-348 was, however, additionally detected outside centromeres in three members of the Coastal clade. We also identified a novel satDNA, NrubSat01-48, associated with (peri)centromeres in N. foerschi, N. guentheri, and N. rubripinnis. Our findings revealed fast turnover of satDNA associated with (peri)centromeres and different trends in their evolution in two clades of the genus Nothobranchius.","PeriodicalId":50698,"journal":{"name":"Chromosome Research","volume":"31 4","pages":"33"},"PeriodicalIF":2.6,"publicationDate":"2023-11-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10661780/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138177804","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