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

The recurrent occurrence of sex-autosome translocations during mammalian evolution suggests common mechanisms enabling a precise control of meiotic synapsis, recombination and inactivation of sex chromosomes. We used immunofluorescence and FISH to study the meiotic behaviour of sex chromosomes in six species of Bovidae with evolutionary sex-autosome translocations (Tragelaphus strepsiceros, Taurotragus oryx, Tragelaphus imberbis, Tragelaphus spekii, Gazella leptoceros and Nanger dama ruficollis). The autosomal regions of fused sex chromosomes showed normal synapsis with their homologous counterparts. Synapsis in the pseudoautosomal region (PAR) leads to the formation of characteristic bivalent (in T. imberbis and T. spekii with X;BTA13/Y;BTA13), trivalent (in T. strepsiceros and T. oryx with X/Y;BTA13 and G. leptoceros with X;BTA5/Y) and quadrivalent (in N. dama ruficollis with X;BTA5/Y;BTA16) structures at pachynema. However, when compared with other mammals, the number of pachynema lacking MLH1 foci in the PAR was relatively high, especially in T. imberbis and T. spekii, species with both sex chromosomes involved in sex autosome translocations. Meiotic transcriptional inactivation of the sex-autosome translocations assessed by γH2AX staining was restricted to their gonosomal regions. Despite intraspecies differences, the evolutionary fixation of sex-autosome translocations among bovids appears to involve general mechanisms ensuring sex chromosome pairing, synapsis, recombination and inactivation.

• Klíčová slova
• Bovidae, Histone modification, Meiosis, Recombination, Sex-autosome translocation, Sex-chromosome inactivation, Synapsis, X chromosome, Y chromosome,
• MeSH
• fluorescenční protilátková technika MeSH
• hybridizace in situ fluorescenční MeSH
• malování chromozomů MeSH
• meióza genetika   MeSH
• párování chromozomů genetika   MeSH
• pohlavní chromozomy genetika   MeSH
• přežvýkavci genetika   MeSH
• segregace chromozomů genetika   MeSH
• translokace genetická * MeSH
• zvířata MeSH
• Check Tag
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem 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 captive bred animal populations showing centric fusion polymorphism can serve as a model for analysis of the impact of the rearrangement on meiosis and reproduction. The synapsis of homologous chromosomes and the frequency and distribution of meiotic recombination events were studied in pachytene spermatocytes of captive bred male impalas (Aepyceros melampus) polymorphic for der(14;20) by immunofluorescent analysis and fluorescence in situ hybridization. The chromosomes 14 and 20 involved in the centric fusion were significantly shorter due to the loss of sat I repeats indicating ancient origin of the rearrangement. The fused chromosome and the normal acrocentric chromosomes 14 and 20 formed trivalent in pachynema which showed either protruding proximal ends of the acrocentric chromosomes or single axis with synaptic adjustment in the pericentromeric region. There was no significant difference in the number of recombination events per cell between the group of translocation heterozygotes and the animals with normal karyotype. A significant reduction in the number of recombination events was observed in the trivalent chromosomes compared to the normal chromosomes 14 and 20. The level of the recombination reduction was related to the trivalent configuration. The centric fusion der(14;20) was not apparently demonstrated by any spermatogenic defects or reproductive impairment in heterozygous impalas. However, the high incidence of the chromosomal polymorphism within the captive bred population shows the importance of cytogenetic examinations in captive breeding and wildlife conservation programs, especially in the case of reintroduction of the endangered species.

• MeSH
• hybridizace in situ fluorescenční MeSH
• jaderné proteiny genetika   MeSH
• lymfocyty metabolismus   MeSH
• meióza genetika   MeSH
• metafáze genetika   MeSH
• modely u zvířat MeSH
• pachytenní stadium MeSH
• přežvýkavci genetika   MeSH
• rekombinace genetická genetika   MeSH
• rozmnožování genetika   MeSH
• savčí chromozomy genetika   MeSH
• spermatocyty cytologie   metabolismus   MeSH
• synaptonemální komplex genetika   MeSH
• translokace genetická * MeSH
• zvířata MeSH
• Check Tag
• mužské pohlaví MeSH
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Názvy látek
• jaderné proteiny MeSH