Synaptonemal complex
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Homologous chromosomes exchange genetic information through recombination during meiosis, a process that increases genetic diversity, and is fundamental to sexual reproduction. In an attempt to shed light on the dynamics of mammalian recombination and its implications for genome organization, we have studied the recombination characteristics of 112 individuals belonging to 28 different species in the family Bovidae. In particular, we analyzed the distribution of RAD51 and MLH1 foci during the meiotic prophase I that serve, respectively, as proxies for double-strand breaks (DSBs) which form in early stages of meiosis and for crossovers. In addition, synaptonemal complex length and meiotic DNA loop size were estimated to explore how genome organization determines DSBs and crossover patterns. We show that although the number of meiotic DSBs per cell and recombination rates observed vary between individuals of the same species, these are correlated with diploid number as well as with synaptonemal complex and DNA loop sizes. Our results illustrate that genome packaging, DSB frequencies, and crossover rates tend to be correlated, while meiotic chromosomal axis length and DNA loop size are inversely correlated in mammals. Moreover, axis length, DSB frequency, and crossover frequencies all covary, suggesting that these correlations are established in the early stages of meiosis.
- Klíčová slova
- Bovidae, Crossovers, MLH1, Meiosis, RAD51, Recombination,
- MeSH
- dvouřetězcové zlomy DNA MeSH
- meióza * MeSH
- MutL homolog 1 MeSH
- myši MeSH
- přežvýkavci genetika metabolismus MeSH
- rekombinace genetická * MeSH
- rekombinasa Rad51 MeSH
- savčí chromozomy metabolismus ultrastruktura MeSH
- synaptonemální komplex metabolismus ultrastruktura MeSH
- zvířata MeSH
- Check Tag
- mužské pohlaví MeSH
- myši MeSH
- zvířata MeSH
- Publikační typ
- časopisecké články MeSH
- Názvy látek
- MutL homolog 1 MeSH
- rekombinasa Rad51 MeSH
BACKGROUND: The synaptonemal complex (SC) is a protein axis formed along chromosomes during meiotic prophase to ensure proper pairing and crossing over. SC analysis has been widely used to study the chromosomes of mammals and less frequently of birds, reptiles, and fish. It is a promising method to investigate the evolution of fish genomes and chromosomes as a part of complex approach. SUMMARY: Compared with conventional metaphase chromosomes, pachytene chromosomes are less condensed and exhibit pairing between homologous chromosomes. These features of SCs facilitate the study of the small chromosomes that are typical in fish. Moreover, it allows the study of heteromorphisms in sex chromosomes and supernumerary chromosomes. In addition, it enables the investigation of the pairing between orthologous chromosomes in hybrids, which is crucial for uncovering the causes of hybrid sterility and asexual reproduction, such as gynogenesis or hybridogenesis. However, the application of SC analysis to fish chromosomes is limited by the associated complications. First, in most fish, meiosis does not occur during every season and life stage. Second, different SC preparation methods are optimal for different fish species. Third, commercial antibodies targeting meiotic proteins have been primarily developed against mammalian antigens, and not all of them are suitable for fish chromosomes. KEY MESSAGES: In the present review, we provide an overview of the methods for preparing fish SCs and highlight important studies using SC analysis in fish. This study will be valuable for planning and designing research that applies SC analysis to fish cytogenetics and genomics.
- Klíčová slova
- Chromosome structure, Fluorescent in situ hybridization, Hybrid sterility, Meiosis, Sex chromosomes,
- MeSH
- chromozomy genetika MeSH
- meióza * genetika MeSH
- molekulární evoluce MeSH
- pohlavní chromozomy genetika MeSH
- ryby * genetika MeSH
- synaptonemální komplex * genetika MeSH
- zvířata MeSH
- Check Tag
- mužské pohlaví MeSH
- zvířata MeSH
- Publikační typ
- časopisecké články MeSH
- přehledy MeSH
Recently, the reticulated giraffe (G. reticulata) was identified as a distinct species, which emphasized the need for intensive research in this interesting animal. To shed light on the meiotic process as a source of biodiversity, we analysed the frequency and distribution of meiotic recombination in 2 reticulated giraffe males. We used immunofluorescence detection of synaptonemal complex protein (SYCP3), meiotic double strand breaks (DSB, marked as RAD51 foci) in leptonema, and crossovers (COs, as MLH1 foci) in pachynema. The mean number of autosomal MLH1 foci per cell (27), which resulted from a single, distally located MLH1 focus observed on most chromosome arms, is one of the lowest among mammalian species analysed so far. The CO/DSB conversion ratio was 0.32. The pseudoautosomal region was localised in the Xq and Yp termini by FISH and showed an MLH1 focus in 83% of the pachytene cells. Chromatin structures corresponding to the nucleolus organiser regions were observed in the pachytene spermatocytes. The results are discussed in the context of known data on meiosis in Cetartiodactyla, depicting that the variation in CO frequency among species of this taxonomic group is mostly associated with their diploid chromosome number.
- Klíčová slova
- Crossover, Giraffe, MLH1, Meiosis, Nucleolus organiser region, RAD51, Recombination, Synaptonemal complex,
- MeSH
- fluorescenční protilátková technika MeSH
- hybridizace in situ fluorescenční MeSH
- meióza genetika MeSH
- MutL homolog 1 genetika MeSH
- organizátor jadérka genetika MeSH
- rekombinace genetická * MeSH
- rekombinasa Rad51 genetika MeSH
- synaptonemální komplex genetika MeSH
- žirafy genetika MeSH
- zvířata MeSH
- Check Tag
- mužské pohlaví MeSH
- zvířata MeSH
- Publikační typ
- časopisecké články MeSH
- Názvy látek
- MutL homolog 1 MeSH
- rekombinasa Rad51 MeSH
Meiotic recombination between homologous chromosomes is crucial for their correct segregation into gametes and for generating diversity. We compared the frequency and distribution of MLH1 foci and RAD51 foci, synaptonemal complex (SC) length and DNA loop size in two related Bovidae species that share chromosome arm homology but show an extreme difference in their diploid chromosome number: cattle (Bos taurus, 2n = 60) and the common eland (Taurotragus oryx, 2nmale = 31). Compared to cattle, significantly fewer MLH1 foci per cell were observed in the common eland, which can be attributed to the lower number of initial double-strand breaks (DSBs) detected as RAD51 foci in leptonema. Despite the significantly shorter total autosomal SC length and longer DNA loop size of the common eland bi-armed chromosomes compared to those of bovine acrocentrics, the overall crossover density in the common eland was still lower than in cattle, probably due to the reduction in the number of MLH1 foci in the proximal regions of the bi-armed chromosomes. The formation of centric fusions during karyotype evolution of the common eland accompanied by meiotic chromatin compaction has greater implications in the reduction in the number of DSBs in leptonema than in the decrease of MLH1 foci number in pachynema.
- Klíčová slova
- Immunofluorescence, MLH1, Meiosis, RAD51, Recombination, SCP3, Spermatocyte, Synaptonemal complex,
- MeSH
- antilopy genetika MeSH
- DNA metabolismus MeSH
- druhová specificita MeSH
- dvouřetězcové zlomy DNA MeSH
- enzymy opravy DNA genetika metabolismus MeSH
- meióza genetika MeSH
- regulace genové exprese MeSH
- rekombinace genetická MeSH
- rekombinasa Rad51 genetika metabolismus MeSH
- savčí chromozomy genetika metabolismus ultrastruktura MeSH
- sbalení DNA * MeSH
- skot MeSH
- synaptonemální komplex MeSH
- zvířata MeSH
- Check Tag
- mužské pohlaví MeSH
- skot MeSH
- zvířata MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- Názvy látek
- DNA MeSH
- enzymy opravy DNA MeSH
- rekombinasa Rad51 MeSH
Hybrid sterility is one of the reproductive isolation mechanisms leading to speciation. Prdm9, the only known vertebrate hybrid-sterility gene, causes failure of meiotic chromosome synapsis and infertility in male hybrids that are the offspring of two mouse subspecies. Within species, Prdm9 determines the sites of programmed DNA double-strand breaks (DSBs) and meiotic recombination hotspots. To investigate the relation between Prdm9-controlled meiotic arrest and asynapsis, we inserted random stretches of consubspecific homology on several autosomal pairs in sterile hybrids, and analyzed their ability to form synaptonemal complexes and to rescue male fertility. Twenty-seven or more megabases of consubspecific (belonging to the same subspecies) homology fully restored synapsis in a given autosomal pair, and we predicted that two or more DSBs within symmetric hotspots per chromosome are necessary for successful meiosis. We hypothesize that impaired recombination between evolutionarily diverged chromosomes could function as one of the mechanisms of hybrid sterility occurring in various sexually reproducing species.
- Klíčová slova
- Prdm9, chromosomes, evolutionary biology, gene expression, genomics, homology-dependent meiotic chromosome pairing, mouse, speciation, synaptonemal complex,
- MeSH
- biologická evoluce * MeSH
- chiméra genetika MeSH
- chromozomy genetika MeSH
- dvouřetězcové zlomy DNA MeSH
- histonlysin-N-methyltransferasa genetika MeSH
- hybridizace genetická MeSH
- infertilita genetika MeSH
- meióza genetika MeSH
- mužská infertilita genetika MeSH
- myši MeSH
- párování chromozomů genetika MeSH
- rekombinace genetická MeSH
- reprodukční izolace MeSH
- synaptonemální komplex genetika MeSH
- vznik druhů (genetika) MeSH
- zvířata MeSH
- Check Tag
- mužské pohlaví MeSH
- myši MeSH
- zvířata MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- Názvy látek
- histonlysin-N-methyltransferasa MeSH
- prdm9 protein, mouse MeSH Prohlížeč
Faithful meiotic segregation requires pairwise alignment of the homologous chromosomes and their synaptonemal complex (SC) mediated stabilization. Here, we investigate factors that promote and coordinate these events during C. elegans meiosis. We identify BRA-2 (BMP Receptor Associated family member 2) as an interactor of HIM-17, previously shown to promote double-strand break formation. We found that loss of bra-2 impairs synapsis elongation without affecting homolog recognition, chromosome movement or SC maintenance. Epistasis analyses reveal previously unrecognized activities for HIM-17 in regulating homolog pairing and SC assembly in a partially overlapping manner with BRA-2. We show that removing bra-2 or him-17 restores nuclear clustering, recruitment of PLK-2 at the nuclear periphery, and abrogation of ectopic synapsis in htp-1 mutants, suggesting intact CHK-2-mediated signaling and presence of a barrier that prevents SC polymerization in the absence of homology. Our findings shed light on the regulatory mechanisms ensuring faithful pairing and synapsis.
- MeSH
- Caenorhabditis elegans * genetika metabolismus cytologie MeSH
- meióza * genetika fyziologie MeSH
- mutace MeSH
- párování chromozomů * genetika MeSH
- proteiny buněčného cyklu * metabolismus genetika MeSH
- proteiny Caenorhabditis elegans * metabolismus genetika MeSH
- synaptonemální komplex metabolismus genetika MeSH
- zvířata MeSH
- Check Tag
- zvířata MeSH
- Publikační typ
- časopisecké články MeSH
- Názvy látek
- Htp-1 protein, C elegans MeSH Prohlížeč
- proteiny buněčného cyklu * MeSH
- proteiny Caenorhabditis elegans * MeSH
INTRODUCTION: Reproductive isolation and hybrid sterility are mechanisms that maintain the genetic integrity of species and prevent the introgression of heterospecific genes. However, crosses of closely related species can lead to complex evolution, such as the formation of all-female lineages that reproduce clonally. Bighead catfish (Clarias macrocephalus) and North African catfish (C. gariepinus) diverged 40 million years ago. They are cultivated and hybridized in Thailand for human consumption. Male hybrids are sterile due to genome-wide chromosome asynapsis during meiosis. Although female hybrids are sometimes fertile, their chromosome configuration during meiosis has not yet been studied. METHODS: We analyzed meiosis in the hybrid female catfish at pachytene (synaptonemal complexes) and diplotene (lampbrush chromosomes), using immunostaining to detect chromosome pairing and double-stranded break formation, and FISH with species-specific satellite DNAs to distinguish the parental chromosomes. RESULTS: More than 95% of oocytes exhibited chromosome asynapsis in female hybrid catfish; however, they were able to progress to the diplotene stage and form mature eggs. The remaining oocytes underwent premeiotic endoreplication, followed by synapsis and crossing over between sister chromosomes, similar to known clonal lineages in fish and reptiles. DISCUSSION: The occurrence of clonal reproduction in female hybrid catfish suggests a unique model for studying gametogenic alterations caused by hybridization and their potential for asexual reproduction. Our results further support the view that clonal reproduction in certain hybrid animals relies on intrinsic mechanisms of sexually reproducing parental species, given their multiple independent origins with the same mechanism.
- Klíčová slova
- clariid catfish, lampbrush chromosomes, satellite DNA, synaptonemal complex, telomeric sequence,
- Publikační typ
- časopisecké články MeSH
The physical basis of non-Mendelian segregation of a sex-linked marker was studied in sex- chromosome mutant females of eight ASF ('abnormal segregating females') lines in the flour moth, Ephestia kuehniella. Electron microscopical analysis of microspread synaptonemal complexes revealed that in one line, the Z chromosome segment that contained the dz+ allele was translocated onto an autosome. The resulting quadrivalent visible in early female meiosis was 'corrected' into two bivalents in later stages. This explains autosomal inheritance of the sex chromosome marker in this strain. In the other seven ASF lines, the type of meiotic pairing of an additional fragment (Zdz+) of the Z chromosome was responsible for abnormal segregation of the marker gene. In several of these lines, Zdz+ contained a piece of the W chromosome in addition to the Z segment, as was confirmed by comparative genomic hybridization (CGH). Zdz+ formed three alternative pairing configurations with the original sex chromosomes: (i) a WZZdz+ trivalent, (ii) a WZ bivalent and a Zdz+ univalent or (iii) a ZZdz+ bivalent and a W univalent. In the most frequent WZZdz+ configuration, Zdz+ synapsed with Z and, consequently, segregated with W, simulating W linkage. This explains the predominant occurrence of the parental phenotypes in the progeny. Zdz+ univalents or W univalents, on the other hand, segregated randomly, resulting in both parental and nonparental phenotypes. In two of these lines, the Zdz+ was transmitted only to females. The results suggest that the W chromosome segment in Zdz+ of these lines contains a male-killing factor which makes it incompatible with male development. Our data provide direct evidence for the regular transmission of radiation-induced fragments from lepidopteran chromosomes through more than 50 generations. This is facilitated by the holokinetic nature of lepidopteran chromosomes. We conclude that Zdz+ fragments may persist as long as they possess active kinetochore elements.
- MeSH
- genetické markery * MeSH
- meióza fyziologie MeSH
- můry genetika fyziologie MeSH
- párování chromozomů fyziologie MeSH
- pohlavní chromozomy fyziologie ultrastruktura MeSH
- synaptonemální komplex ultrastruktura MeSH
- zvířata MeSH
- Check Tag
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- zvířata MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- Názvy látek
- genetické markery * MeSH
Autosomal trisomies and monosomies bring serious threats to embryonic development through transcriptional disarray caused primarily by the dosage effect of the aneuploid part of the genome. The present study compared the effect of a mouse-viable 30-Mb segmental trisomy on the genome-wide transcriptional profile of somatic (liver) cells and male germ cells. Although the 1.6-fold change in expression of triplicated genes reflected the gene dosage in liver cells, the extra copy genes were compensated in early pachytene spermatocytes, showing 1.18-fold increase. Although more pronounced, the dosage compensation of trisomic genes was concordant with the incidence of HORMAD2 protein and histone gammaH2AX markers of unsynapsed chromatin. A possible explanation for this includes insufficient sensitivity to detect the meiotic silencing of unsynapsed chromatin markers in the 30-Mb region of the chromosome or an earlier silencing effect of another epigenetic factor. Taken together, our results indicate that the meiotic silencing of unsynapsed chromatin is the major, but most likely not the only, factor driving the dosage compensation of triplicated genes in primary spermatocytes.
- Klíčová slova
- gene dosage, male sterility, meiotic silencing of unsynapsed chromatin, pachytene spermatocytes, segmental trisomy, synaptonemal complex, transcriptional profiling,
- MeSH
- aneuploidie MeSH
- chromatin genetika MeSH
- fenotyp MeSH
- genom * MeSH
- játra fyziologie MeSH
- kompenzace dávky (genetika) * MeSH
- meióza genetika MeSH
- mužská infertilita genetika MeSH
- myši inbrední C57BL MeSH
- spermatocyty fyziologie MeSH
- synaptonemální komplex genetika MeSH
- těhotenství MeSH
- tělesná hmotnost genetika MeSH
- transkriptom MeSH
- translokace genetická genetika MeSH
- trizomie genetika MeSH
- zvířata MeSH
- Check Tag
- mužské pohlaví MeSH
- těhotenství MeSH
- ženské pohlaví MeSH
- zvířata MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- Názvy látek
- chromatin MeSH
Meiotic prophase in Schizosaccharomyces pombe is characterized by striking nuclear movements and the formation of linear elements along chromosomes instead of tripartite synaptonemal complexes. We analysed the organization of nuclei and microtubules in cells of fission yeasts undergoing sexual differentiation. S. japonicus var. versatilis and S. pombe cells were studied in parallel, taking advantage of the better cytology in S. versatilis. During conjugation, microtubules were directed towards the mating projection. These microtubules seem to lead the haploid nuclei together in the zygote by interaction with the spindle pole bodies at the nuclear periphery. After karyogamy, arrays of microtubules emanating from the spindle pole body of the diploid nucleus extended to both cell poles. The same differentiated microtubule configuration was elaborated upon induction of azygotic meiosis in S. pombe. The cyclic movements of the elongated nuclei between the cell poles is reflected by a dynamic and coordinated shortening and lengthening of the two microtubule arrays. When the nucleus was at a cell end, one array was short while the other bridged the whole cell length. Experiments with inhibitors showed that microtubules are required for karyogamy and for the elongated shape and movement of nuclei during meiotic prophase. In both fission yeasts the SPBs and nucleoli are at the leading ends of the moving nuclei. Astral and cytoplasmic microtubules were also prominent during meiotic divisions and sporulation. We further show that in S. versatilis the linear elements formed during meiotic prophase are similar to those in S. pombe. Tripartite synaptonemal complexes were never detected. Taken together, these findings suggest that S. pombe and S. versatilis share basic characteristics in the organization of microtubules and the structure and behaviour of nuclei during their meiotic cell cycle. The prominent differentiations of microtubules and nuclei may be involved in the pairing, recombination, and segregation of meiotic chromosomes.
- MeSH
- benomyl farmakologie MeSH
- buněčné jádro fyziologie MeSH
- druhová specificita MeSH
- fluorescenční protilátková technika MeSH
- hybridizace in situ fluorescenční MeSH
- meióza MeSH
- mikrotubuly účinky léků fyziologie MeSH
- nokodazol farmakologie MeSH
- organizátor jadérka fyziologie ultrastruktura MeSH
- profáze MeSH
- Schizosaccharomyces cytologie genetika fyziologie MeSH
- synaptonemální komplex fyziologie MeSH
- thiabendazol farmakologie MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- srovnávací studie MeSH
- Názvy látek
- benomyl MeSH
- nokodazol MeSH
- thiabendazol MeSH