水稻减数分裂过程中染色体重组交换行为

减数分裂在有性生物的生命周期中起着非常重要的作用,其过程高度保守。减数分裂过程中,染色体配对、联会和重组是遗传变异的源泉、有性生物进化的推动力,也是减数分裂研究的热点之一。在植物减数分裂研究中,还不可能直接观察到染色体在减数分裂过程中的交换情况,往往是通过交换后群体的遗传分析来推测。文章通过图示基因型方法分析了来自花药培养的32个水稻双单倍体(DH)株系,发现少数株系某些染色体部分区段为杂合状态,并利用STS分子标记对杂合状态的真实性进行了验证,推测杂合区段的出现可能与染色体的修复不完全或修复错误有关。研究结果为解释植物减数分裂的机理提供了直接证据。     

Chromosome breakage and recombination at fragile sites.

Chromosomal fragile sites are points on chromosomes that usually appear as nonstaining chromosome or chromatid gaps. It has frequently been suggested that fragile sites may be involved in chromosome breakage and recombination events. We and others have previously shown that fragile sites predispose to intrachromosomal recombination as measured by sister-chromatid exchanges. These findings suggested that fragile site expression often, if not always, is accompanied by DNA strand breakage. In the present report, fragile sites are shown to predispose to deletions and interchromosomal recombination. By use of somatic cell hybrids containing either human chromosome 3 or the fragile X chromosome, deletions and translocations were induced by FUdR or aphidicolin with breakpoints at the fragile sites Xq27 or 3p14.2 (FRA3B) or at points so close to the fragile sites as to be cytogenetically indistinguishable. Southern blot analysis of DNA from a panel of chromosome 3 deletion and translocation hybrids was then utilized to detect loss or retention of markers flanking FRA3B and to corroborate the cytogenetic evidence that the breakpoints were at this fragile site. One cell line with a reciprocal translocation between human chromosome 3 (with breakpoint at 3p14.2) and a hamster chromosome showed cytogenetically that the fragile site was expressed on both derivative chromosomes, supporting the hypothesis that the fragile site represents a repeated sequence. The approach described provides a means of generating specific rearrangements in somatic cell hybrids with a breakpoint at a fragile site.(ABSTRACT TRUNCATED AT 250 WORDS)     

High-resolution mapping and recombination interval analysis of mouse Chromosome 17

Analysis of homologous recombination in eukaryotes has shown that some meiotic crossing-over occurs preferentially at specific genomic sites of limited physical distance called recombinational hotspots. In the mouse, recombinational hotspots have only been defined in the major histocompatibility complex (MHC) on chromosome (Chr) 17. In an attempt to examine whether hotspots are unique to the MHC or are present throughout the genome, high-resolution linkage maps of Chr 17 based on five backcrosses involving different inbred strains have been generated. These maps separate many markers that were previously shown at the same map position and allow a detailed analysis of recombination patterns across Chr 17. Corresponding recombination intervals in these maps have been compared for the identification of intervals with very little or no recombination in certain genetic crosses and considerable recombination in other genetic crosses. This approach has been termed Recombination Interval Analysis. Possible haplotype-dependent non-MHC hotspots, as well as previously identified MHC hotspots, have been detected by interval analysis. Received: 1 December 1997/ Accepted: 27 February 1998     

Chromosome interactions in P-M dysgenic male recombination of Drosophila melanogaster.

The frequency, distribution and structure of P elements on the second and third chromosomes of Texas 1, a wild-type inbred strain of Drosophila melanogaster, were investigated by in situ hybridization. These autosomes were isolated individually and used as P-element donors to study the frequency and distribution of male recombination events generated on recipient chromosomes which were originally devoid of P sequences. The P-element array of chromosome 2 was shown to generate higher male recombination frequencies on chromosome 3 than vice versa, despite having fewer P factors and fewer P elements in general. This is likely to be due to the presence and distribution of specific P-deletion derivatives, which vary in their ability to repress P mobility. The male recombination generated on recipient chromosomes is associated with the insertion of donated P sequences, but only in a small minority of cases could a novel P-element site be detected at, or near, the recombination breakpoint. The majority of such breakpoints appear to be associated either with unsuccessful P insertion, or with the action of P transposase attracted by P elements newly inserted elsewhere on the recipient chromosome. Recent evidence also suggests that a small proportion of the breakpoints may be associated with the action of P transposase alone. Male recombination breakpoints appear to be distributed effectively at random along the recipient autosomes, and their frequency of occurrence was shown to correlate with the physical length of DNA available between markers, as revealed by the polytene map distance.     

Chromosome stability, DNA recombination and the BRCA2 tumour suppressor

The BRCA2 tumour suppressor works in DNA recombination and repair pathways to preserve genome integrity. Recent progress provides fresh insights into its role as a regulator of the Rad51 recombination protein, underpinning a model in which BRCA2's involvement in chromosome stability and tumour suppression arises from its participation in recombinational processes essential for DNA replication.     

Chromosome end elongation by recombination in the mosquito Anopheles gambiae.

One of the functions of telomeres is to counteract the terminal nucleotide loss associated with DNA replication. While the vast majority of eukaryotic organisms maintain their chromosome ends via telomerase, an enzyme system that generates short, tandem repeats on the ends of chromosomes, other mechanisms such as the transposition of retrotransposons or recombination can also be used in some species. Chromosome end regression and extension were studied in a medically important mosquito, the malaria vector Anopheles gambiae, to determine how this dipteran insect maintains its chromosome ends. The insertion of a transgenic pUChsneo plasmid at the left end of chromosome 2 provided a unique marker for measuring the dynamics of the 2L telomere over a period of about 3 years. The terminal length was relatively uniform in the 1993 population with the chromosomes ending within the white gene sequence of the inserted transgene. Cloned terminal chromosome fragments did not end in short repeat sequences that could have been synthesized by telomerase. By late 1995, the chromosome ends had become heterogeneous: some had further shortened while other chromosomes had been elongated by regenerating part of the integrated pUChsneo plasmid. A model is presented for extension of the 2L chromosome by recombination between homologous 2L chromosome ends by using the partial plasmid duplication generated during its original integration. It is postulated that this mechanism is also important in wild-type telomere elongation.     

Chromosome synapsis and genetic recombination: their roles in meiotic chromosome segregation

Chromosome synapsis and genetic recombination ensure the faithful segregation of chromosomes at meiosis I by establishing physical connections between homologs. Recent observations suggest that recombination may also play a role in the homology search process that precedes synapsis.     

Chromosome pairing and recombination in mice heterozygous for different translocations in chromosomes 16 and 17

In order to clarify the relationship between meiotic pairing and recombination, and electron microscopic (EM) study of synaptonemal complexes (SC) and an analysis of chiasma frequency and distribution were made in male mice singly and doubly heterozygous for Robertsonian [Rb(16.17)7Bnr] and reciprocal [T(16:17)43H] translocations and also in tertiary trisomics for the proximal region of chromosome 17. In all these genotypes an extensive zone of asynapsis/desynapsis around the breakpoints was revealed. At the same time a high frequency of non-homologous pairing was observed in precentromeric regions of acrocentric chromosomes. The presence in the proximal region of chromosome 17 of the t haplotype did not affect the synaptic behaviour of this region. Chiasma frequency in the proximal region of chromosome 17 in the T(16:17)43H heterozygotes and trisomics was increased when compared with that in Robertsonian heterozygotes.by H.C. Macgregor     

Chromosome synapsis and recombination during meiotic division in gynogenetic triploid ginbuna,Carassius auratus langsdorfii

Electron microscope examinations of primary oocytes of gynogenetic triploid ginbuna (Carassius auratus langsdorfii) and diploid gengoroubuna (Carassius auratus cuvieri) were carried out. Typical synaptonemal complexes were observed in both subspecies. In addition, clear differences in PGM-A electrophoretic patterns between a female parent ginbuna and her offspring were detected. It was concluded that synapsis and recombination occur between at least some homologous chromosomes in triploid ginbuna.     

Chromosome engineering in Saccharomyces cerevisiae by using a site-specific recombination system of a yeast plasmid.

We have developed an effective method to delete or invert a chromosomal segment and to create reciprocal recombination between two nonhomologous chromosomes in Saccharomyces cerevisiae, using the site-specific recombination system of pSR1, a circular cryptic DNA plasmid resembling 2 microns DNA of S. cerevisiae but originating from another yeast, Zygosaccharomyces rouxii. A 2.1-kilobase-pair DNA fragment bearing the specific recombination site on the inverted repeats of pSR1 was inserted at target sites on a single or two different chromosomes of S. cerevisiae by using integrative vectors. The cells were then transformed with a plasmid bearing the R gene of pSR1, which encodes the site-specific recombination enzyme and is placed downstream of the GAL1 promoter. When the transformants were cultivated in galactose medium, the recombination enzyme produced by expression of the R gene created the modified chromosome(s) by recombination between two specific recombination sites inserted on the chromosome(s).     

Chromosome size-dependent control of meiotic reciprocal recombination in Saccharomyces cerevisiae: the role of crossover interference.

In the yeast Saccharomyces cerevisiae, small chromosomes undergo meiotic reciprocal recombination (crossing over) at rates (centimorgans per kilobases) greater than those of large chromosomes, and recombination rates respond directly to changes in the total size of a chromosomal DNA molecule. This phenomenon, termed chromosome size-dependent control of meiotic reciprocal recombination, has been suggested to be important for ensuring that homologous chromosomes cross over during meiosis. The mechanism of this regulation was investigated by analyzing recombination in identical genetic intervals present on different size chromosomes. The results indicate that chromosome size-dependent control is due to different amounts of crossover interference. Large chromosomes have high levels of interference while small chromosomes have much lower levels of interference. A model for how crossover interference directly responds to chromosome size is presented. In addition, chromosome size-dependent control was shown to lower the frequency of homologous chromosomes that failed to undergo crossovers, suggesting that this control is an integral part of the mechanism for ensuring meiotic crossing over between homologous chromosomes.     

Comparison of interspecific to intersubspecific backcrosses demonstrates species and sex differences in recombination frequency on mouse Chromosome 16

One hundred fourteen progeny from an interspecific backcross between laboratory mice and M. spretus were typed for six markers spanning most of mouse Chromosome (Chr) 16. Additional maps of 9–10 markers of this chromosome were derived from analysis of over 500 progeny from four backcrosses between inbred laboratory strains and members of the Mus musculus group, M.m. musculus and M.m. molossinus (subspecies). The results of these analyses confirmed the gene order: (CEN)-Prm-1/Prm-2-Igl-1-Smst-Mtv-6-Gap43-Pit-1(dw)-D21S16h-App-Sod-1-Ets-2-Mx. Maps produced from these five crosses were of similar lengths, but recombination in several regions was affected by sex of the F₁ parent or by the combination of strains used in the cross. As reported previously, recombination frequencies were elevated significantly at the distal end of the chromosome in a cross using F₁ males. The male map showed significant compression in the interval Smst to Gap43. Both male and female intersubspecific maps were expanded near the proximal and distal ends of the chromosome relative to the interspecific cross. The spretus cross was compressed in the proximal interval, Prm-1-Igl-1-Smst, and was slightly expanded in the Smst-Gap43 interval, relative to intersubspecific crosses using F₁ females. Female intersubspecific maps were expanded about 50% near the distal end of the chromosome when compared to the interspecific cross. The expansion or compression of maps using different strain or sex combinations has implications for the efficient production of high resolution recombinational maps of the mouse genome.     

Chromosome recombination and defective genome segregation induced in Chinese hamster cells by the topoisomerase II inhibitor VM-26

We found that 4-demethylepipodophyllotoxinthenylidene--d-glucoside (VM-26; Teniposide), which specifically inhibits the enzyme DNA topoisomerase II, induces the formation of quadriradial chromosomes in Chinese hamster ovary cells. VM-26 traps topoisomerase II molecules when they are covalently integrated into DNA during their reaction. Quadriradial chromosomes are formed by reciprocal exchange of double-stranded DNA between single chromatids of two different chromosomes. Using synchronised cells, we found that they were formed after a single replication cycle in the presence of VM-26 at a low concentration (0.008M), which does not affect DNA replication, and occurred in 50% of the mitotic cells at a concentration of 0.16 M. They were also formed when VM-26 was present for only 1.5 h before mitosis, after the completion of S-phase DNA replication. Chromatids bearing a translocated segment of another chromatid, which were derived from recombined chromosomes, were observed in late metaphase cells. Segregation of the daughter genomes was defective in many mitotic cells, probably because chromatids with two or no centromeres and kinetochores, formed from chromosomes recombined between their centromeres, could not be segregated. In the light of evidence that topoisomerase II molecules covalently integrated in DNA are trapped and therefore more abundant in the presence of VM-26, and that this enzyme can effect recombination of double-stranded DNA in vitro, we interpret these observations as evidence that topoisomerase II can mediate chromosome recombination in vivo.by M. Trendelenburg     

Chromosome pairing and potential for intergeneric recombination in some hypotetraploid somatic hybrids of Lycopersicon esculentum (+) Solanum tuberosum.

Three somatic hybrids resulting from protoplast fusions of a diploid kanamycin-resistant line of tomato (Lycopersicon esculentum) and a dihaploid hygromycin-resistant transformant of a monohaploid potato (Solanum tuberosum) line were used for a cytogenetic study on chromosome pairing and meiotic recombination. Chromosome counts in root-tip meristem cells revealed two hypotetraploids with chromosome complements of 2n = 46 and one with 2n = 47. Electron microscope analyses of synaptonemal complex spreads of hypotonically burst protoplasts at mid prophase I showed abundant exchanges of pairing partners in multivalents involving as many as eight chromosomes. In the cells at late pachytene recombination nodules were found in multivalents on both sides of pairing partner exchanges, indicating recombination at both homologous and homoeologous sites. Light microscope observations of pollen mother cells at late diakinesis and metaphase I also revealed multivalents, though their occurrence in low frequencies betrays the reduction of multivalent number and complexity. Precocious separation of half bivalents at metaphase I and lagging of univalents at anaphase I were observed frequently. Bridges, which may result from an apparent inversion loop found in the synaptonemal complexes of a mid prophase I nucleus, were also quite common at anaphase I, though the expected accompanying fragments could be detected in only a few cells. Most striking were the high frequencies of first division restitution in preparations at metaphase II/anaphase II, giving rise to unreduced gametes. In spite of the expected high numbers of balanced haploid and diploid gametes, male fertility, as revealed by pollen staining, was found to be negligible.     

Single-crossover recombination and ancestral recombination trees

We consider the Wright–Fisher model for a population of $N$ individuals, each identified with a sequence of a finite number of sites, and single-crossover recombination between them. We trace back the ancestry of single individuals from the present population. In the $N \rightarrow \infty $ limit without rescaling of parameters or time, this ancestral process is described by a random tree, whose branching events correspond to the splitting of the sequence due to recombination. With the help of a decomposition of the trees into subtrees, we calculate the probabilities of the topologies of the ancestral trees. At the same time, these probabilities lead to a semi-explicit solution of the deterministic single-crossover equation. The latter is a discrete-time dynamical system that emerges from the Wright–Fisher model via a law of large numbers and has been waiting for a solution for many decades.     

Chromosome Territories

Chromosome territories (CTs) constitute a major feature of nuclear architecture. In a brief statement, the possible contribution of nuclear architecture studies to the field of epigenomics is considered, followed by a historical account of the CT concept and the final compelling experimental evidence of a territorial organization of chromosomes in all eukaryotes studied to date. Present knowledge of nonrandom CT arrangements, of the internal CT architecture, and of structural interactions with other CTs is provided as well as the dynamics of CT arrangements during cell cycle and postmitotic terminal differentiation. The article concludes with a discussion of open questions and new experimental strategies to answer them.Impressive progress has been achieved during the last decade with regard to the functional implications of DNA methylation, histone modifications, and chromatin remodeling events for gene regulation (Fuks 2005; Kouzarides 2007; Maier et al. 2008; Jiang and Pugh 2009). It has, however, also become obvious that decoding the chromatin language does not suffice to fully understand the ways in which the diploid genome contributes to the formation of the different epigenomes present in the various cell types of a multicellular organism.Different epigenomes and their functional implications also depend on differences in higher‐order chromatin organization and nuclear architecture at large. Epigenomic research aims for an integrated understanding of the structural and functional aspects of epigenetics with nuclear architecture during the differentiation of toti- or pluripotent cells to functionally distinct cell types.The territorial organization of chromosomes in interphase (chromosome territories, CTs) constitutes a basic feature of nuclear architecture. This article starts with a brief historical account of the CT concept and the compelling experimental evidence in favor of a territorial organization of chromosomes in all eukaryotes studied to date. A survey of what is presently known about nonrandom arrangements of CTs, about changes of such arrangements in cycling cells as a result of internal or external influences and about the internal architecture of CTs and their structural interactions with each other is provided. The article concludes with a discussion of open questions on CT organization and new experimental strategies to answer them.     

染色体浓缩素

染色体的形成是细胞周期的重要事件,然而有关染色体构筑动力学的分子机制仍未阐明。近年来对染色体浓缩素的分离与研究,为认识DNA浓缩和染色体构建机制提供了重要的线索,是细胞生物学研究领域的里程碑。现对浓缩素的发现过程,浓缩素在有丝分裂和减数分裂中的作用,浓缩素与黏着素的关系,浓缩素参与基因调节等方面进行综述,为相关领域的研究者提供参考。