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
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
The fully grown mammalian oocyte is transcriptionally quiescent and utilizes only transcripts synthesized and stored during early development. However, we find that an abundant RNA population is retained in the oocyte nucleus and contains specific mRNAs important for meiotic progression. Here we show that during the first meiotic division, shortly after nuclear envelope breakdown, translational hotspots develop in the chromosomal area and in a region that was previously surrounded the nucleus. These distinct translational hotspots are separated by endoplasmic reticulum and Lamin, and disappear following polar body extrusion. Chromosomal translational hotspots are controlled by the activity of the mTOR-eIF4F pathway. Here we reveal a mechanism that-following the resumption of meiosis-controls the temporal and spatial translation of a specific set of transcripts required for normal spindle assembly, chromosome alignment and segregation.
- MeSH
- časové faktory MeSH
- down regulace MeSH
- eukaryotický iniciační faktor 4F metabolismus MeSH
- fertilizace MeSH
- jaderný obal metabolismus MeSH
- lidé MeSH
- meióza MeSH
- messenger RNA genetika metabolismus MeSH
- myši MeSH
- nestabilita genomu MeSH
- oocyty metabolismus MeSH
- proteosyntéza * MeSH
- RNA čepičky metabolismus MeSH
- savčí chromozomy metabolismus MeSH
- savci metabolismus MeSH
- signální transdukce * MeSH
- TOR serin-threoninkinasy metabolismus MeSH
- zvířata MeSH
- Check Tag
- lidé MeSH
- myši MeSH
- zvířata MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- Názvy látek
- eukaryotický iniciační faktor 4F MeSH
- messenger RNA MeSH
- RNA čepičky MeSH
- TOR serin-threoninkinasy MeSH
The oocyte (maternal) nucleolus is essential for early embryonic development and embryos originating from enucleolated oocytes arrest at the 2-cell stage. The reason for this is unclear. Surprisingly, RNA polymerase I activity in nucleolus-less mouse embryos, as manifested by pre-rRNA synthesis, and pre-rRNA processing are not affected, indicating an unusual role of the nucleolus. We report here that the maternal nucleolus is indispensable for the regulation of major and minor satellite repeats soon after fertilisation. During the first embryonic cell cycle, absence of the nucleolus causes a significant reduction in major and minor satellite DNA by 12% and 18%, respectively. The expression of satellite transcripts is also affected, being reduced by more than half. Moreover, extensive chromosome bridging of the major and minor satellite sequences was observed during the first mitosis. Finally, we show that the absence of the maternal nucleolus alters S-phase dynamics and causes abnormal deposition of the H3.3 histone chaperone DAXX in pronuclei of nucleolus-less zygotes.
- Klíčová slova
- Centromere, Chromosome bridging, Mice, Nucleolus precursor body, Replication stress, Satellite DNA,
- MeSH
- blastocysta cytologie metabolismus MeSH
- buněčné jadérko metabolismus MeSH
- centromera metabolismus MeSH
- embryo savčí cytologie metabolismus MeSH
- genetická transkripce MeSH
- genom genetika MeSH
- heterochromatin genetika MeSH
- messenger RNA genetika metabolismus MeSH
- mikrosatelitní repetice genetika MeSH
- minisatelitní repetice genetika MeSH
- myši MeSH
- oocyty cytologie metabolismus MeSH
- posttranskripční úpravy RNA genetika MeSH
- prekurzory RNA genetika MeSH
- rekombinace genetická genetika MeSH
- replikace DNA genetika MeSH
- restrukturace chromatinu genetika MeSH
- RNA ribozomální biosyntéza genetika MeSH
- S fáze genetika MeSH
- savčí chromozomy metabolismus MeSH
- zvířata MeSH
- Check Tag
- mužské pohlaví MeSH
- myši MeSH
- ženské pohlaví MeSH
- zvířata MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- Názvy látek
- heterochromatin MeSH
- messenger RNA MeSH
- prekurzory RNA MeSH
- RNA ribozomální MeSH
Three different diploid chromosome numbers (2n = 54, 56 and 58) have been reported in the lesser horseshoe bat, Rhinolophus hipposideros. Asia Minor and the Middle East are inhabited by R. hipposideros specimens with 58 chromosomes. In Europe, specimens with 56 chromosomes have been recorded from several localities in the Czech Republic, Slovakia, Italy and Greece. Up to now, specimens with 54 chromosomes have been reported only from Spain and possibly from Switzerland. With the record of 54 chromosomes in specimens from Germany presented here, the distributional area of this variant is expanded into Central Europe. According to the cytogenetic data presently available, we presume that the European R. hipposideros population is divided into a western form (from Spain to Germany) with a 2n = 54 karyotype and an eastern form (from the Czech Republic to Greece) with a 2n = 56 karyotype. This study presents banded karyotypes for the 2n = 54 and 2n = 56 variants for the first time. In addition, chromosomal arm homology to the vespertilionid bat species Myotis myotis revealed by chromosome painting is reported. Whether the variants could represent separate species is also discussed.
- MeSH
- barvení stříbrem MeSH
- Chiroptera genetika MeSH
- chromozom X genetika metabolismus MeSH
- chromozom Y genetika metabolismus MeSH
- genetická variace * MeSH
- heterochromatin genetika metabolismus MeSH
- karyotyp * MeSH
- malování chromozomů MeSH
- metafáze MeSH
- molekulární evoluce MeSH
- organizátor jadérka genetika metabolismus MeSH
- populační genetika metody MeSH
- savčí chromozomy genetika metabolismus MeSH
- sekvenční homologie nukleových kyselin MeSH
- zvířata MeSH
- Check Tag
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- zvířata MeSH
- Publikační typ
- časopisecké články MeSH
- Geografické názvy
- Česká republika MeSH
- Evropa MeSH
- Německo MeSH
- Názvy látek
- heterochromatin MeSH
Chromosome segregation errors are highly frequent in mammalian female meiosis, and their incidence gradually increases with maternal age. The fate of aneuploid eggs is obviously dependent on the stringency of mechanisms for detecting unattached or repairing incorrectly attached kinetochores. In case of their failure, the newly formed embryo will inherit the impaired set of chromosomes, which will have severe consequences for its further development. Whether spindle assembly checkpoint (SAC) in oocytes is capable of arresting cell cycle progression in response to unaligned kinetochores was discussed for a long time. It is known that abolishing SAC increases frequency of chromosome segregation errors and causes precocious entry into anaphase; SAC, therefore, seems to be essential for normal chromosome segregation in meiosis I. However, it was also reported that for anaphase-promoting complex (APC) activation, which is a prerequisite for entering anaphase; alignment of only a critical mass of kinetochores on equatorial plane is sufficient. This indicates that the function of SAC and of cooperating chromosome attachment correction mechanisms in oocytes is different from somatic cells. To analyze this phenomenon, we used live cell confocal microscopy to monitor chromosome movements, spindle formation, APC activation and polar body extrusion (PBE) simultaneously in individual oocytes at various time points during first meiotic division. Our results, using oocytes from aged animals and interspecific crosses, demonstrate that multiple unaligned kinetochores and severe congression defects are tolerated at the metaphase to anaphase transition, although such cells retain sensitivity to nocodazole. This indicates that checkpoint mechanisms, operating in oocytes at this point, are essential for accurate timing of APC activation in meiosis I, but they are insufficient in detection or correction of unaligned chromosomes, preparing thus conditions for propagation of the aneuploidy to the embryo.
- MeSH
- anafáze MeSH
- anafázi podporující komplex MeSH
- aneuploidie MeSH
- časosběrné zobrazování metody MeSH
- histony genetika metabolismus MeSH
- kinetochory metabolismus MeSH
- komplexy ubikvitinligas genetika metabolismus MeSH
- konfokální mikroskopie metody MeSH
- kontrolní body M fáze buněčného cyklu MeSH
- metafáze MeSH
- mikroinjekce MeSH
- myši inbrední C57BL MeSH
- myši MeSH
- oocyty cytologie metabolismus MeSH
- párování chromozomů * MeSH
- proteolýza MeSH
- savčí chromozomy genetika metabolismus MeSH
- savci MeSH
- segregace chromozomů * MeSH
- sekurin MeSH
- transportní proteiny genetika metabolismus MeSH
- tubulin genetika metabolismus MeSH
- zvířata MeSH
- Check Tag
- mužské pohlaví MeSH
- myši MeSH
- ženské pohlaví MeSH
- zvířata MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- Názvy látek
- anafázi podporující komplex MeSH
- histony MeSH
- komplexy ubikvitinligas MeSH
- sekurin MeSH
- transportní proteiny MeSH
- tubulin MeSH