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Claeys Bouuaert, C.

Publications and source records attributed to Claeys Bouuaert, C..

10 recordsLinked to original sources

Cohesin–axis interaction via a conserved Red1 motif promotes domain-specific DSB formation and Mek1 activation

Faithful chromosome segregation during meiosis I requires tight control of interhomolog recombination. In budding yeast, the meiotic chromosome axis, built on Rec8-containing cohesin together with Red1 and Hop1, acts as a central platform regulating meiotic recombination from programmed DNA double-strand break (DSB) formation to checkpoint signaling and chromosome segregation, yet how cohesin recruits axis proteins remains unclear. Here, we identified a conserved cohesin-interacting motif (CIM) in Red1 that directly binds Rec8. AlphaFold3 modeling predicted that Red1-CIM forms a short -helix that docks into a conserved hydrophobic pocket within the Rec8 C-terminal winged-helix domain, which we confirmed biochemically. Disruption of the Red1-CIM preferentially impaired Red1 recruitment to Rec8-dependent chromosomal regions, while relative enrichment in Rec8-independent domains was preserved, leading to reduced DSB formation in Rec8-dependent domains. The Red1-CIM mutation also reduced crossover formation, increased chromosome missegregation, and reduced spore viability. Notably, this spore lethality exceeded that predicted by the reduction in DSB formation. Consistently, red1-CIM mutants failed to activate the meiotic checkpoint kinase Mek1. Finally, we provide evolutionary, structural, and biochemical evidence that this Red1-Rec8 interaction is conserved across fungi and plants. Together, these findings define a direct molecular bridge linking cohesin to chromosome-axis organization, spatial DSB regulation, and checkpoint signaling during meiosis.

molecular biology↗

Dimerization of the S. cerevisiae Spo11 core complex

Spo11 initiates meiotic recombination by introducing programmed DNA double-strand breaks. DNA cleavage occurs via a topoisomerase-like mechanism involving hybrid active sites formed at the dimer interface. However, in contrast to its topoisomerase relative (Topo VI), Spo11 does not form a stable dimer, likely to prevent uncontrolled DNA cleavage. Here, we investigated the dimerization of S. cerevisiae Spo11 in complex with its partners Ski8, Rec102, and Rec104. We show that the Spo11 complex dimerizes transiently on DNA, forming unstable dimeric complexes with duplex and branched DNA substrates. Guided by AlphaFold modeling of a pre-cleavage complex, we identified mutations that reduce dimerization. Surprisingly, DSB formation is resilient to mutagenesis of the Spo11 dimer interface, implying that additional factors promote dimerization in vivo. Finally, we found that Rec102 exerts a key DNA-binding function, essential for catalysis, and show that it also participates in dimerization through trans contacts with Ski8. Our work provides new insights into the mechanism of Spo11 dimerization and the role of its partners in initiating meiotic recombination.

molecular biology↗

Insights into the recruitment of the H3K4me3 reader Spp1 by the meiotic double-strand break protein Mer2

The formation of DNA double-strand breaks (DSBs) by Spo11 is tied to the loop-axis organization of meiotic chromosomes. Prior to DSB formation, chromatin loops marked by histone H3K4 trimethylation become tethered to the chromosome axis through interactions between Spp1 and Mer2. Mer2 is an essential partner of Spo11 thought to assemble the DSB machinery via biomolecular condensation, but these molecular assemblies remain poorly characterized. Here, using AlphaFold modeling, biochemical reconstitution, and biophysical validation, we explored the relationship between Mer2, Spp1 and their DNA-bound complexes. The tetrameric coiled-coil domain of Mer2 has four rotationally symmetrical sites that can bind a C-terminal -helix of Spp1. However, binding of one Spp1 subunit appears to allosterically modulate the affinity for the adjacent sites, leading to the assembly of 4x2 Mer2-Spp1 complexes. Mer2 also accommodates multiple DNA duplexes, allowing the assembly of tripartite Mer2-Spp1-DNA complexes with branched DNA substrates and effective recruitment of Spp1 within nucleoprotein condensates. However, because the Spp1- and DNA-binding sites of Mer2 partially overlap, Spp1 recruitment reduces DNA binding by Mer2, which is compensated for by a patch of positively charged residues within Spp1. These findings provide insights into the structural organization of Mer2 and Spp1 and their role in the assembly of the meiotic DSB machinery.

molecular biology↗

SPO11 dimerization controls meiotic DNA double-strand break formation

SPO11 initiates meiotic recombination through the induction of programmed DNA double-strand breaks (DSBs), but this catalytic activity had never been reconstituted in vitro. Here, using Mus musculus SPO11, we report a biochemical system that recapitulates all the hallmarks of meiotic DSB formation. We show that SPO11 catalyzes break formation in the absence of any partners and remains covalently attached to the 5' broken strands. We find that target site selection by SPO11 is influenced by the sequence, bendability and topology of the DNA substrate, and provide evidence that SPO11 can reseal single-strand DNA breaks. In addition, we show that SPO11 is monomeric in solution and that cleavage requires dimerization to reconstitute two hybrid active sites. SPO11 and its partner TOP6BL form a 1:1 complex that catalyzes DNA cleavage with a similar activity to SPO11 alone. However, the complex binds DNA ends with higher affinity, suggesting a potential role post-cleavage. We propose a model where additional partners of SPO11 required for DSB formation in vivo assemble biomolecular condensates that recruit SPO11-TOP6BL, enabling dimerization and cleavage. Our work establishes SPO11 dimerization as the fundamental mechanism that controls the induction of meiotic DSBs.

biochemistry↗

Evolutionary conservation of the structure and function of meiotic Rec114-Mei4 and Mer2 complexes

Meiosis-specific Rec114-Mei4 and Mer2 complexes are thought to enable Spo11-mediated DNA double-strand-break (DSB) formation through a mechanism that involves DNA-dependent condensation. However, the structure, molecular properties, and evolutionary conservation of Rec114-Mei4 and Mer2 are unclear. Here, we present AlphaFold structures of Rec114-Mei4 and Mer2 complexes, supported by nuclear magnetic resonance (NMR) spectroscopy, small-angle X-ray scattering (SAXS), and mutagenesis. We show that dimers composed of the Rec114 C-terminus form -helical chains that cup an N-terminal Mei4 -helix, and that Mer2 forms a parallel homotetrameric coiled coil. Both Rec114-Mei4 and Mer2 bind preferentially to branched DNA substrates, indicative of multivalent protein-DNA interactions. Indeed, the Rec114-Mei4 interaction domain contains two DNA-binding sites that point in opposite directions and drive condensation. The Mer2 coiled-coil domain bridges co-aligned DNA duplexes, likely through extensive electrostatic interactions along the length of the coiled coil. Finally, we show that the structure of Rec114-Mei4 and Mer2 are conserved across eukaryotes, while DNA-binding properties vary significantly. This work provides insights into the mechanism whereby Rec114-Mei4 and Mer2 complexes promote the assembly of the meiotic DSB machinery, and suggests a model where Mer2 condensation is the essential driver of assembly, with the DNA-binding activity of Rec114-Mei4 playing a supportive role.

molecular biology↗

Structural and functional characterization of the Spo11 core complex

Spo11, which makes DNA double-strand breaks (DSBs) essential for meiotic recombination, is poorly understood mechanistically because it has been recalcitrant to biochemical study. Here, we provide a molecular analysis of S. cerevisiae Spo11 purified with partners Rec102, Rec104 and Ski8. Rec102 and Rec104 jointly resemble the B subunit of archaeal Topoisomerase VI, with Rec104 similar to a GHKL domain but without conserved ATPase motifs. Unexpectedly, the Spo11 complex is monomeric (1:1:1:1 stoichiometry), indicating that dimerization may control DSB formation. Reconstitution of DNA binding reveals topoisomerase-like preferences for duplex-duplex junctions and bent DNA. Spo11 also binds noncovalently but with high affinity to DNA ends mimicking cleavage products, suggesting a mechanism to cap DSB ends. Mutations that reduce DNA binding in vitro attenuate DSB formation, alter DSB processing, and reshape the DSB landscape in vivo. Our data reveal structural and functional similarities between the Spo11 core complex and Topo VI, but also highlight differences reflecting their distinct biological roles.

molecular biology↗

DNA-dependent macromolecular condensation drives self-assembly of the meiotic DNA break machinery

Formation of meiotic DNA double-strand breaks (DSBs) by Spo11 is tightly regulated and tied to chromosome structure, but the higher-order assemblies that execute and control DNA breakage are poorly understood. We address this question through molecular characterization of Saccharomyces cerevisiae RMM proteins (Rec114, Mei4 and Mer2)--essential, conserved components of the DSB machinery. Each subcomplex of Rec114-Mei4 (2:1 heterotrimer) or Mer2 (homotetrameric coiled coil) is monodisperse in solution, but they independently condense with DNA into dynamic, reversible nucleoprotein clusters that share properties with phase-separated systems. Multivalent interactions drive condensation, which correlates with DSB formation in vivo. Condensates fuse into mixed Rec114-Mei4-Mer2 clusters that further recruit Spo11 complexes. Our data show how the DSB machinery self-assembles on chromosome axes to create centers of DSB activity. We propose that multilayered control of Spo11 arises from recruitment of regulatory components and modulation of biophysical properties of the condensates.

molecular biology↗

Concerted cutting by Spo11 illuminates DNA break mechanisms and initiates gap repair during meiosis

Genetic variation arises during meiosis via repair of DNA double-strand breaks (DSBs) created by the topoisomerase-like Spo11 protein. These DSBs are thought to always occur sparsely across the genome, with isolated DSBs generating discrete recombination events. We challenge this view, demonstrating that hyper-localised coincident DSBs frequently form within hotspots in both S. cerevisiae and mouse--a process suppressed by the DNA damage response kinase Tel1/ATM. Remarkably, the distances separating coincident DSBs vary with [~]10.5 bp periodicity, invoking a model where adjacent Spo11 molecules have a fixed orientation relative to the DNA helix. Deep sequencing of meiotic progeny identifies recombination scars consistent with gap repair initiated by adjacent DSBs. Our results revise current thinking about how genetic recombination initiates, reviving original concepts of meiotic recombination as double-strand gap repair.

molecular biology↗

Rahu Is A Mutant Allele Of Dnmt3c, Encoding A DNA Methyltransferase Required For Meiosis And Transposon Repression In The Mouse Male Germline

Transcriptional silencing by heritable cytosine-5 methylation is an ancient strategy to repress transposable elements. It was previously thought that mammals possess four DNA methyltransferase paralogs--Dnmt1, Dnmt3a, Dnmt3b and Dnmt3l--that establish and maintain cytosine-5 methylation. Here we identify a fifth paralog, Dnmt3c, that is essential for retrotransposon methylation and repression in the mouse male germline. From a phenotype-based forward genetics screen, we isolated a mutant mouse called rahu, which displays severe defects in double-strand-break repair and homologous chromosome synapsis during male meiosis, resulting in sterility. rahu is an allele of a transcription unit (Gm14490, renamed Dnmt3c) that was previously mis-annotated as a Dnmt3-family pseudogene. Dnmt3c encodes a cytosine methyltransferase homolog, and Dnmt3crahu mutants harbor a non-synonymous mutation of a conserved residue within one of its cytosine methyltransferase motifs, similar to a mutation in human DNMT3B observed in patients with immunodeficiency, centromeric instability and facial anomalies syndrome. The rahu mutation lies at a potential dimerization interface and near the potential DNA binding interface, suggesting that it compromises protein-protein and/or protein-DNA interactions required for normal DNMT3C function in vivo. Dnmt3crahu mutant males fail to establish normal methylation within LINE and LTR retrotransposon sequences in the germline and accumulate higher levels of transposon-derived transcripts and proteins, particularly from distinct L1 and ERVK retrotransposon families. Phylogenetic analysis indicates that Dnmt3c arose during rodent evolution by tandem duplication of Dnmt3b, after the divergence of the Dipodoidea and Muroidea superfamilies. These findings provide insight into the evolutionary dynamics and functional specialization of the transposon suppression machinery critical for mammalian sexual reproduction and epigenetic regulation.

genetics↗

Distinct DNA-binding surfaces in the ATPase and linker domains of MutLγ determine its substrate specificities and exert separable functions in meiotic recombination and mismatch repair

Mlh1-Mlh3 (MutL{gamma}) is a mismatch repair factor with a central role in formation of meiotic crossovers, presumably through resolution of double Holliday junctions. MutL{gamma} has DNA binding, nuclease, and ATPase activities, but how these relate to one another and to in vivo functions are unclear. Here, we combine biochemical and genetic analyses to characterize Saccharomyces cerevisiae MutL{gamma}. Limited proteolysis and atomic force microscopy showed that purified recombinant MutL{gamma} undergoes ATP-driven conformational changes. In vitro, MutL{gamma} displayed separable DNA-binding activities toward Holliday junctions (HJ) and, surprisingly, single-stranded DNA (ssDNA), which was not predicted from current models. MutL{gamma} bound DNA cooperatively, could bind multiple substrates simultaneously, and formed higher-order complexes. FeBABE hydroxyl radical footprinting indicated that the DNA-binding interfaces of MutL{gamma} for ssDNA and HJ substrates only partially overlap. Most contacts with HJ substrates were located in the linker regions of MutL{gamma}, whereas ssDNA contacts mapped within linker regions as well as the N-terminal ATPase domains. Using yeast genetic assays for mismatch repair and meiotic recombination, we found that mutations within different DNA-binding surfaces exert separable effects in vivo. For example, mutations within the Mlh1 linker conferred little or no meiotic phenotype but led to mismatch repair deficiency. Interestingly, mutations in the N-terminal domain of Mlh1 caused a stronger meiotic defect than mlh1{Delta}, suggesting that the mutant proteins retain an activity that interferes with alternative recombination pathways. Furthermore, mlh3{Delta} caused more chromosome missegregation than mlh1{Delta}, whereas mlh1{Delta} but not mlh3{Delta} partially alleviated meiotic defects of msh5{Delta} mutants. These findings illustrate functional differences between Mlh1 and Mlh3 during meiosis and suggest that their absence impinges on chromosome segregation not only via reduced formation of crossovers. Taken together, our results offer insights into the structure-function relationships of the MutL{gamma} complex and reveal unanticipated genetic relationships between components of the meiotic recombination machinery.\n\nAuthor summarySexual reproduction involves the fusion of two gametes that each contain half of the DNA from each parent. These gametes are generated through a specialized cellular division called meiosis. During meiosis, the cell faces the challenge of identifying the appropriate pairs of chromosomes that need to be separated. This involves an elaborate mechanism whereby the parental chromosomes recombine and form crossovers, i.e. exchange DNA fragments. These crossovers are thus important for the accurate segregation of chromosomes and are also fundamental to evolution because they help shuffle linkage groups from one generation to another. Here, we have studied a complex of proteins called MutL{gamma} that is important for the formation of crossovers, and is also involved in an unrelated mechanism that repairs mistakes that spontaneous arise in DNA when it is synthesized. We uncovered intriguing features of the interaction of this complex with DNA. In addition, by studying a collection of mutants of MutL{gamma}, we identified mutants that affect one biological function but not another. For example, surprisingly, we found mutations that decrease the frequency of crossovers but did not affect chromosome segregation as much as expected. Taken together, our findings allow us to reconsider the ways in which we think about these processes.

genetics↗