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PubMed2026

The dynamic pool of Rec8-cohesin is crucial for meiotic recombination and transcription regulation in the yeast Saccharomyces cerevisiae.

Cohesin is a ring-shaped protein complex that mediates sister-chromatid cohesion (SCC) to ensure accurate chromosome segregation during mitosis and meiosis. In Saccharomyces cerevisiae, cohesin consists of four core subunits-Smc1, Smc3, Scc1/Mcd1, and Scc3. During meiosis, the mitotic α-kleisin Scc1/Mcd1 is replaced by the meiosis-specific α-kleisin Rec8. Rec8-containing cohesin is essential for multiple meiotic processes, including chromosome morphogenesis, homologous recombination, axis and synaptonemal complex formation, SCC, and transcriptional regulation. While stable association of Rec8-cohesin with chromatin is required to maintain SCC from premeiotic S phase through anaphase II, dynamic chromatin association is thought to underlie its roles in recombination, chromosome architecture, and transcription via loop extrusion. Whether distinct stable and dynamic pools of Rec8-cohesin coexist during meiosis and how their functions are partitioned remained unclear. Here, we employed an anchor-away strategy to conditionally deplete only the dynamic pool of Rec8-cohesin from the nucleus while preserving the stable pool. Selective depletion reduced sporulation efficiency and spore viability without compromising SCC. Calibrated ChIP-seq revealed a genome-wide reduction in Rec8-cohesin levels rather than locus-specific loss. Functional analyses demonstrated that the dynamic pool of Rec8-cohesin is required for efficient meiotic recombination, establishment of meiosis-specific chromosome architecture and synaptonemal complex formation, and proper transcriptional regulation of key meiotic regulators. In contrast, the stable pool alone was sufficient to maintain spindle pole body cohesion. Together, our findings demonstrate the existence of two functionally distinct pools of Rec8-cohesin during yeast meiosis.

Saccharomyces cerevisiae↗
PubMed1977

Problem of sex ratio in cases of type I syndactyly.

Fifty pedigrees of type I syndactyly were analysed for sex ratio and segreation pattern. Thirty-four of the pedigrees were from the published reports; 16 were collected in the State of Utah. Pedigrees with affected individuals showing webbing between the second and third toes are characterized by a sex ratio of affected individuals favouring males and a highly significant excess of affected sons of heterozygous fathers. A similar distorted segregation pattern is present in those pedigrees when the webbing involves the second and third toes and/or the third and fourth fingers, but not in those pedigrees when the webbing involves other digits. The reason for the distorted segregation pattern is unknown. Hypothesis include abnormal chromosome segregation and gametic selection.

Female↗
PubMed2025

The dynamic centromere.

Centromeres are fundamental chromosomal structures that ensure accurate chromosome segregation during cell division. Despite their conserved and essential role in maintaining genomic stability, centromeres are subject to rapid evolutionary change. At the heart of centromere identity is the histone H3 variant CENP-A, an epigenetic mark that defines and propagates active centromeres and is essential for their function. Recent evidence supports a rapid evolution of centromere DNA sequences but also suggests a certain degree of flexibility in CENP-A deposition and propagation. The phenomenon of centromere drift, recently observed in humans, highlights how the dynamic repositioning of CENP-A and associated epigenetic environment over time maintains a regulated equilibrium, ensuring centromere function despite positional variation. Understanding these processes is crucial for unraveling centromere dynamics and their broader implications for genome stability and evolution.

Centromere↗
PubMed2026

Folding a broken genome: the versatile roles of cohesin in genome maintenance.

Cohesin is a protein complex that shapes 3D genome organization through two distinct mechanisms. First, cohesin tethers replicated chromatids from DNA replication until mitosis. This process, known as sister chromatid cohesion, ensures accurate chromosome segregation and enables high-fidelity DNA repair through homologous recombination between the sister chromatids. Second, cohesin organizes the genome during interphase by dynamically extruding chromatin loops, structures that have key roles in gene regulation. Recent work has shown that, in addition to the well-established repair functions of sister chromatid cohesion, cohesin-mediated chromatin looping is closely linked to the repair of DNA double-strand breaks - one of the most toxic DNA lesions. In this Review, we discuss the central roles of cohesin in maintaining genome stability, with emphasis on the cellular response to DNA double-strand breaks. We review how dynamic loop structures facilitate signalling of repair events and promote long-range chromatin motions that underpin the repair process. Overall, its dual mode of action - cohesion and loop extrusion - positions cohesin as a central regulator of chromatin architecture and genome maintenance.

Cohesins↗
PubMed2025

An interbacterial cysteine protease toxin inhibits cell growth by targeting type II DNA topoisomerases GyrB and ParE.

Bacteria deploy a diverse arsenal of toxic effectors to antagonize competitors, profoundly influencing the composition of microbial communities. Previous studies have identified an interbacterial toxin predicted to exhibit proteolytic activity that is broadly distributed among gram-negative bacteria. However, the precise mechanism of intoxication remains unresolved. Here, we demonstrate that one such protease toxin from Escherichia coli, Cpe1, disrupts DNA replication and chromosome segregation by cleaving conserved sequences within the ATPase domain of type II DNA topoisomerases GyrB and ParE. This cleavage effectively inhibits topoisomerase-mediated relaxation of supercoiled DNA, resulting in impaired bacterial growth. Cpe1 belongs to the papain-like cysteine protease family and is associated with toxin delivery pathways, including the type VI secretion system and contact-dependent growth inhibition. The structure of Cpe1 in complex with its immunity protein reveals a neutralization mechanism involving competitive substrate binding rather than active site occlusion, distinguishing it from previously characterized effector-immunity pairs. Our findings unveil a unique mode of interbacterial intoxication and provide insights into how bacteria protect themselves from self-poisoning by protease toxins.

Escherichia coli↗
PubMed2026

Retention of a single Cenp-C gene in different syntenic locations in the montium group of Drosophila species.

Chromosome segregation in eukaryotes requires the orchestrated interaction of chromosomes with microtubules, mediated by the kinetochore multiprotein complex that assembles on chromosomal regions known as centromeres. In most eukaryotes, CenH3 and Cenp-C centromeric proteins are essential for centromere function. In Drosophila, the localization of CenH3 (or Cid in Drosophila) depends on its chaperone CAL1 and Cenp-C. Previous studies have shown that both Cid and Cenp-C underwent a coincident gene duplication and likely functional specialization in the Drosophila subgenus. Independently, Cid duplications led to three paralogs in the montium group (Sophophora subgenus). Here, we investigated whether this group also underwent parallel Cenp-C duplications by analyzing sequenced genomes of 23 montium group species. We identified Cenp-C genes in five distinct syntenic loci. Despite their distinct synteny, all but two montium group species (except D. birchii and D. vulcana) encode a single Cenp-C, whose phylogeny mirrors the species phylogeny, and all encode protein motifs indicative of intact Cenp-C function. These Cenp-C genes resulted from gene translocations or duplication followed by loss of the ancestral copy. Therefore, the co-retention of three Cid paralogs in the montium group did not result in coincident Cenp-C paralog co-retention. Analysis of the selective constraints in Cenp-C reveals more prominent positive selection in the Drosophila subgenus (with two retained Cenp-C paralogs) than in the Sophophora subgenus, including the montium group. Our work highlights differences in functional retention and potential specialization of CenH3 and Cenp-C, two of the most conserved eukaryotic centromeric proteins in Drosophila.

Journal Article↗
PubMed1977

Plasmid replication and Hfr formation in strains of Escherichia coli carrying seg mutations.

Several conditional-lethal mutantions that do not permit the replication of F-factors of Escherichia coli K-12 are located at a site called seg. This gene is located on the E. coli chromosome between ser B and thr. It is unrelated to other known genes involved in DNA replication. Strains carrying seg mutations were unable to replicate F'-lac+, several F'-gal+s, F'-his+ and bacteriophage gamma at 42 degrees. However, neither phage T4, ColE1, nor any of the R factors tested were prevented from replicating at 42 degrees C. When the kinetics of the loss of F-primes is studied in seg strains, it is found that the rate of curing depends on the size of the plasmid, larger F factors curing faster than smaller ones, and that Hfrs are formed at high frequencies. The Hfrs showed both F-genote enlargement and normal transfer of chromosomal markers. The F-genotes are unstable and segregate chromosomal markers at high frequencies. Some orthodox Hfrs were examined, and two that were known to revert to the F+ condition relatively frequently were found to generate enlarged F-genotes on mating, whereas two strains that were very stable with respect to the F+ state did not show F-genote formation. F-genote formation from seg Hfr stains is dependent on a functional recA gene, as F-genote formation was not seen with a seg-2, recA-1 Hfr. This is in contrast to F-genote enlargement shown by both orthodox Hfrs and an Hfr strain constructed by integration of a temperature-sensitive F'-gal+, whose F-genote enlargement is Rec-independent. Thus there may be more than one mechanism for the formation of enlarged F-genotes.

Chromosome Mapping↗
PubMed1976

Comparative mapping using somatic cell hybrids.

Comparative mapping, or ascertaining the gene linkage relationships between different species, is rapidly developing. This is possible because new techniques in chromosome identification and somatic cell hybridization, such as the generation of hybrids preferentially segregating chromosomes of any desired species including rodents, and the development of gene transfer techniques have yielded new information about the human and rodent gene maps. In addition, the discovery and characterization of mouse subspecies has generated new mouse sexual genetic linkage data. The following picture is emerging. Several X-linked genes in man are X-linked in all mammalian species tested. The linkage relationships of several tightly linked genes, less than 1 map unit apart, are also conserved in all mammalian species tested. Ape autosomal genes are assigned to ape chromosomes homologous to their human counterparts indicating extensive conservation in the 12 million years (MYR) of evolution from apes to man. Similarly, mouse and rat, 10 MYR apart in evolution, have several large autosomal synteny groups conserved. In comparing the mouse and human gene maps we find that human genes assigned to different arms of the same human chromosome are unlinked in the mouse; mouse genes large map distances (20 to 45 cM) apart are very likely to be unlinked in the human. However, several autosomal synteny groups 10 to 20 cM apart, including the Pgd, Eno-1, Pgm-1 group on human chromosome arm 1p, are conserved in mice and man. This suggests that homology mapping, the superimposition of one species gene map on the homologous conserved portion of another species genome may be possible, and that ancestral autosomal synteny groups should be detectable.

Animals↗
PubMed1977

Characterisation of male meiotic-sterile mutations in drosophila melanogaster. The genetic control of meiotic divisions and gametogenesis.

Male meiotic sterile mutations were selected among X-linked male-steriles by detection of micronuclei in early spermatids. Despite severe defects in the 1st or 2nd meiotic spindles in all mutants, no effect on mitosis was observed. Various features of spindle structure, chromosome segregation, and centriole movements were compared in seven meitoic steriles and in XO males. Chromosome behaviour and centriole movement were always affected concomitantly, and were both shown to be genetically independent of "centre" formation in the meiotic spindles. Precocious and delayed centromere separation was observed in the various mutants in both divisions, and similarly attributed to basic spindle lesions rather than chromosome defects. Attachment of the centriole body to the membrane of the spermatid nucleus was normal only in mutants where second division nuclei were formed. The role of the centriole body was shown to be independent of membrane attachment.--The phenomena observed in this study were discussed mainly with regard to genetic interdependence of morphogenetic processes during male meiosis. A common base for the pleiotropic defects of meiotic steriles and XO males is suggested, and the genetic control of meiosis is re-evaluated in the light of comparison with fertile meiotic mutants.

Animals↗
PubMed2025

Germline-restricted chromosome of songbirds has different centromere compared to regular chromosomes.

Centromeres are an important part of chromosomes which direct chromosome segregation during cell division. Their modifications can therefore explain the unusual mitotic and meiotic behaviour of certain chromosomes, such as the germline-restricted chromosome (GRC) of songbirds. This chromosome is eliminated from somatic cells during early embryogenesis and later also from male germ cells during spermatogenesis. Although the mechanism of elimination is not yet known, it is possible that it involves a modification of the centromeric sequence on the GRC, resulting in problems with the attachment of this chromosome to the mitotic or meiotic spindle and its lagging during anaphase, which eventually leads to its elimination from the nucleus. However, the repetitive nature and rapid evolution of centromeres make their identification and comparative analysis across species and chromosomes challenging. Here, we used a combination of cytogenetic and genomic approaches to identify the centromeric sequences of two closely related songbird species, the common nightingale (Luscinia megarhynchos) and the thrush nightingale (L. luscinia). We found a 436-bp satellite repeat present in the centromeric regions of all regular chromosomes (i.e., autosomes and sex chromosomes), making it a strong candidate for the centromeric repeat. This centromeric repeat was highly similar between the two nightingale species. Interestingly, hybridization of the probe to this satellite repeat on meiotic spreads suggested that this repeat is missing on the GRC. Our results indicate that the change of the centromeric sequence may underlie the unusual inheritance and programmed DNA elimination of the GRC in songbirds.

Animals↗
PubMed1977

A light- and electron-microscope study of nuclear structure throughout the cell cycle in the euglenoid Astasia longa (Jahn).

The structure of nuclei of Astasia longa in synchronized cultures was examined at the light- and electron-microscope levels. Three types of nuclei, differing mainly in chromatin conformation, were observed during interphase and were tentatively classed in the G1, S and G2-periods. The fibrillar nucleolar regions exhibited a most complex organization and appeared to consist of convoluted, coarse filaments or nucleolonemata approximately 0.15 micrometer in diameter. Chromosome condensation was evidenced first by the longer, thicker profiles of chromatin observed in late prophase. Furthermore, the nucleolus, that persists throughout mitosis, began to elongate at late prophase. Furthermore, the nucleolus, that persists thorughout mitosis, began to elongate at this stage, simultaneously with the appearance of short, unoriented profiles of intranuclear microtubules. Chromosome condensation was complete by mid-metaphase and the nucleolus was elongated into a cylindrical shape with irregular extremities. Microtubule profiles were longer than in prophase; they were now oriented parallel to the nucleolus and frequently lay closely appressed to its sides. In anaphase, the chromosomes segregated into 2 groups, one towards each extremity of the dumb-bell-shaped nucleolus. The telophase chromosomes assumed a random orientation with respect to the still intact nucleolus. Throughout the division stages the persiting nucleolus maintained its ultrastructural organization and consisted partly of conspicuous nucleolonemal profiles which tended to be oriented along the major axis of this organelle. Nucleolar separation into 2 fragments occurred late in telophase and was followed by a reformation of daughter nuclei and initiation of cell fission during cytokinesis.

Animals↗
PubMed2026

Sex without crossovers mimics clonal reproduction in Rhynchospora tenuis.

Meiotic recombination ensures accurate chromosome segregation and promotes genetic diversity by generating crossovers between homologous chromosomes1. Although essential in most sexually reproducing organisms, recombination is variably regulated and can be absent in some lineages, a condition known as achiasmy2. However, obligate achiasmy in both sexes of a sexual species has not been documented. Here we investigate Rhynchospora tenuis, a flowering plant with the lowest known chromosome number and inverted meiosis3. Combining genomics with molecular experiments, we show that R. tenuis undergoes obligate, genome-wide achiasmy in both male and female meiosis. Despite normal early meiotic axis formation, synapsis fails, crossovers are undetectable cytologically and genetically, and univalents persist at metaphase I. Haplotype-specific accumulation of transposable elements generates segregation distortion favouring the transmission of larger, repeat-rich chromosomes. Sexual reproduction is nevertheless retained: fertilization yields viable seeds only when translocation-compatible gametes meet, indicating strong post-meiotic selection against incompatible homozygous combinations. As a result, all surviving offspring are genetically identical, effectively maintaining heterozygosity by sexual reproduction with parental genotype restitution mimicking clonal reproduction. We propose that recombination loss, a low chromosome number, inverted meiosis and selection for compatible gamete combinations together enable faithful segregation and clonal-like inheritance despite sexual reproduction. These findings blur the boundary between sex and clonality, linking genome architecture, recombination loss and transmission bias.

Journal Article↗
PubMed2024

Principles of bacterial genome organization, a conformational point of view.

Bacterial chromosomes are large molecules that need to be highly compacted to fit inside the cells. Chromosome compaction must facilitate and maintain key biological processes such as gene expression and DNA transactions (replication, recombination, repair, and segregation). Chromosome and chromatin 3D-organization in bacteria has been a puzzle for decades. Chromosome conformation capture coupled to deep sequencing (Hi-C) in combination with other "omics" approaches has allowed dissection of the structural layers that shape bacterial chromosome organization, from DNA topology to global chromosome architecture. Here we review the latest findings using Hi-C and discuss the main features of bacterial genome folding.

Genome, Bacterial↗
PubMed1977

Observations on the mitosis and on the chromosome evolution during the lifecycle of Oodinium, a parasitic dinoflagellate.

The life cycle of the dinoflagellate Oodinium alternates between an ectoparasitic trophic phase and a phase of multiplication as free-living flagellates. The nucleus of the young ectoparasite has rod-like chromosomes similar to those of free-living dinoflagellates. As growth of the trophout proceeds the nucleus becomes increasingly homogeneous. When Oodinium leaves its host, nuclear reorganization processes occur rapidly; they correspond to a peculiar prophase of the first sporogenetic division. The following division stages are similar. A conspicuous fusorial system appears between two archoplasmic areas which are responsible for daughter-chromosome segregation. The nuclear envelope remains intact while the fusorial microtubules are attached at distinct, kinetochore-like structures onto the nucleus. As the chromosomes become more condensed the kinetochore-like formations disappear.

Animals↗
PubMed1977

Fitness effects of EMS-induced mutations on the X chromosome of Drosophila melanogaster. II. Hemizygous fitness effects.

X chromosomes mutagenized with EMS were tested for their effects on the fitness of hemizygous carriers. The tests were carried out in populations in which treated and untreated X chromosomes segregated from matings between males and attached-X females; the populations were maintained for several generations, during which time changes in the frequencies of the treated and untreated chromosomes were observed. From the rates at which the frequencies changed, the fitness effects of the treated chromosomes were determined. It was found that flies hemizygous for a mutagenized chromosome were 1.7% less fit per mM EMS treatment than those hemizygous for an untreated chromosome. Since the same flies were only 0.5% per mM less viable than their untreated counterparts, the total fitness effect of an X chromosome carrying EMS-induced mutants is three to four times greater than its viability effect. By comparing the heterozygous effect of a mutagenized X chromosome on fitness with the corresponding hemizygous effect, the dominance value for the chromosome is estimated to be about 0.25.

Animals↗
PubMed2026

A CCNA1 Missense Variant Associated With Chromatid Non-Disjunction in Abnormal-Headed Sperm and Male Infertility.

BACKGROUND: Macrozoospermia is a rare form of teratozoospermia characterized by tetraploids, large-headed spermatozoa with multiple flagella, usually caused by bi-allelic AURKC mutations. The etiology of atypical phenotypes with a lower proportion of large headed spermatozoa and single flagella however often remains unresolved. OBJECTIVE: To investigate the genetic cause of severe sperm-head abnormalities with moderate macrozoospermia without multiflagellated spermatozoa in a patient with repeated ICSI failure. An infertile male with three failed ICSI attempts underwent semen analysis, revealing complete teratozoospermia, including 25% macrocephalic spermatozoa. METHODS: Multi-probe FISH targeting chromosomes 13, 18, 21, X, Y assessed chromosomal segregation. Whole-exome sequencing (WES) was performed to identify a candidate variant associated with meiotic abnormalities. RESULTS: FISH analysis revealed a high proportion of spermatozoa with n (23) chromosomes and 2c DNA content, consistent with sister chromatid non-disjunction during meiosis II. WES identified a homozygous missense variation in CCNA1, coding for a protein described to be essential for meiotic progression and chromatin remodeling in male germ cells. DISCUSSION: The variant affects a highly conserved residue within a functional domain and is predicted to be deleterious. This study establishes the first clinical association between CCNA1 mutations and chromatid non-disjunction in human spermatogenesis. It highlights the limitations of current morphology-based diagnostic thresholds and supports cytogenetic and genomic assessment for severe teratozoospermia (especially head abnormalities) and ART failure. CONCLUSION: Expanding genetic screening panels to include CCNA1 may improve diagnostic precision and clinical management in atypical macrozoospermia cases.

ART failure↗
PubMed2025

Tracing the evolution and genomic dynamics of mating-type loci in Cryptococcus pathogens and closely related species.

Sexual reproduction in basidiomycete fungi is governed by MAT loci (P/R and HD), which exhibit remarkable evolutionary plasticity, characterized by expansions, rearrangements, and gene losses often associated with mating system transitions. The sister genera Cryptococcus and Kwoniella provide a powerful framework for studying MAT loci evolution owing to their diverse reproductive strategies and distinct architectures, spanning bipolar and tetrapolar systems with either linked or unlinked MAT loci. Building on recent comparative genomic analyses, we generated additional chromosome-level assemblies, uncovering distinct trajectories shaping MAT loci organization. Contrasting with the small-scale expansions and gene acquisitions observed in Kwoniella, our analyses revealed independent expansions of the P/R locus in tetrapolar Cryptococcus, possibly driven by pheromone gene duplications. Notably, these expansions coincided with a pronounced GC-content reduction best explained by reduced GC-biased gene conversion following recombination suppression, rather than relaxed codon usage selection. Diverse modes of MAT locus linkage were also identified, including three previously unrecognized transitions: one resulting in a pseudobipolar arrangement and two leading to bipolarity. All three transitions involved translocations. In the pseudobipolar configuration, the P/R and HD loci remained on the same chromosome but genetically unlinked, whereas the bipolar transitions additionally featured rearrangements that fused the two loci into a nonrecombining region. Mating assays confirmed a sexual cycle in C. decagattii, demonstrating its ability to undergo mating and sporulation. Progeny analysis in K. mangrovensis revealed substantial ploidy variation and aneuploidy, likely stemming from haploid-diploid mating, yet evidence of recombination and loss of heterozygosity indicates that meiotic exchange occurs despite irregular chromosome segregation. Our findings underscore the importance of continued diversity sampling and provide further evidence for convergent evolution of fused MAT loci in basidiomycetes, offering new insights into the genetic and chromosomal changes driving reproductive transitions.

MAT genes↗
PubMed2025

The complex evolution and genomic dynamics of mating-type loci in Cryptococcus and Kwoniella.

Sexual reproduction in basidiomycete fungi is governed by MAT loci (P/R and HD), which exhibit remarkable evolutionary plasticity, characterized by expansions, rearrangements, and gene losses often associated with mating system transitions. The sister genera Cryptococcus and Kwoniella provide a powerful framework for studying MAT loci evolution owing to their diverse reproductive strategies and distinct architectures, spanning bipolar and tetrapolar systems with either linked or unlinked MAT loci. Building on recent comparative genomic analyses, we generated additional chromosome-level assemblies, uncovering distinct trajectories shaping MAT loci organization. Contrasting with the small-scale expansions and gene acquisitions observed in Kwoniella, our analyses revealed independent expansions of the P/R locus in tetrapolar Cryptococcus, possibly driven by pheromone gene duplications. Notably, these expansions coincided with a pronounced GC-content reduction best explained by reduced GC-biased gene conversion following recombination suppression, rather than relaxed codon usage selection. Diverse modes of MAT locus linkage were also identified, including three previously unrecognized transitions: one resulting in a pseudobipolar arrangement and two leading to bipolarity. All three transitions involved translocations. In the pseudobipolar configuration, the P/R and HD loci remained on the same chromosome but genetically unlinked, whereas the bipolar transitions additionally featured rearrangements that fused the two loci into a nonrecombining region. Mating assays confirmed a sexual cycle in Cryptococcus decagattii, demonstrating its ability to undergo mating and sporulation. Progeny analysis in Kwoniella mangrovensis revealed substantial ploidy variation and aneuploidy, likely stemming from haploid-diploid mating, yet evidence of recombination and loss of heterozygosity indicates that meiotic exchange occurs despite irregular chromosome segregation. Our findings underscore the importance of continued diversity sampling and provide further evidence for convergent evolution of fused MAT loci in basidiomycetes, offering new insights into the genetic and chromosomal changes driving reproductive transitions.

Genes, Mating Type, Fungal↗