Meiotic chromosomal aberrations in wild populations of Podophyllum peltatum

Meiotic chromosomal aberrations observed in wild populations of the plant Podophyllum peltatum include incomplete homologous pairing, non-homologous pairing, and inversion heterozygosity in pachytene; univalents, asymmetrical bivalents, and translocation heterozygosity in metaphase-I; bridge and fragments in anaphase-I; and non-disjunction as detected in anaphase-II. Incomplete homologous pachytene pairing is believed to result in non-homologous pairing and in the formation of metaphase-I univalents. The unequal distribution and precocious division of univalents in anaphase-I leads to non-disjunction. Non-disjunction chromosomes (varying in frequency from 0.0 to 24.6%) appear to be distributed among the genome on the basis of chromosome length. Asymmetrical bivalents and anaphase-I side-arm bridges are believed to be caused by chromatid breakage and fusion rather than inversion heterozygosity. Of the 135 clones examined, 20 were found to be heterozygous for translocations. The possibility of widespread distribution of some translocations is suggested.     

The karyotype ofFestucopsis serpentini (Poaceae Triticeae) from Albania studied by banding techniques and in situ hybridization

The karyotypes of two populations ofFestucopsis serpentini (2n = 2x = 14) endemic to Albania were investigated in detail by Giemsa C- and N-banding, AgNO₃ staining, and in situ hybridization with an rDNA probe. The complements consisted of 14 large chromosomes, 10 metacentric and 4 SAT-chromosomes, a metacentric and a submetacentric pair. SAT-chromosomes from one population carried exclusively minute satellites, whereas SAT-chromosomes from another population also carried larger polymorphic satellites, suggesting a geographical differentiation. The existence of four chromosomes with nucleolus forming activity was established through AgNO₃ staining; however, the rDNA probe additionally hybridized to intercalary positions in the short arms of two metacentric chromosomes revealing two inactive rDNA sites. C-banding patterns comprised from zero and up to four very small to larger, generally telomeric bands per chromosome giving low levels of constitutive heterochromatin. Similarities in chromosome morphology and C-banding patterns identified the homologous relationships of all chromosomes in one population, but of three pairs only in the other. Reliable identification of homologous chromosomes between plants was only possible for the SAT-chromosomes. A comparison between the C-banded karyotypes ofF. serpentini andPeridictyon sanctum supports their position in two genera.     

Loss of heterozygosity atBRCA1/2 loci in hereditary and sporadic ovarian cancers

Loss of heterozygosity atBRCA1/2 loci in breast and ovarian tumors is a suggested risk factor for germlineBRCA1/2 mutation status. We evaluated the presence of losses of selected microsatellite markers localized on chromosomes 17 and 13q in hereditary and sporadic ovarian tumors. 151 consecutive primary ovarian tumors (including 21 withBRCA1/2 mutations and 130 without the mutations) were screened for loss of heterozygosity at loci on chromosomes 17 and 13q. Losses of heterozygosity of at least one microsatellite marker localized on chromosomes 17 and 13q were revealed in 123 (81.5%) and 104 (68.9%) tumors, respectively. Losses of all informative markers on chromosomes 17 and 13 occurred in 30 (19.9%) and 31 (20.5%) tumors, respectively. There was no difference in the frequency of losses atBRCA1 intragenic markers (D17S855 and D17S1323) between BRCA1-positive and BRCA1-negative patients. The frequency of losses on chromosome 17 was higher in high-grade than in low-grade carcinomas. Loss of heterozygosity on chromosomes 17 and 13q is a frequent phenomenon in both hereditary and sporadic ovarian cancers. The frequency of losses atBRCA1 intragenic markers in the ovarian tumor tissue is not strongly related to the presence ofBRCA1 germline mutations.     

Detection of wheat-alien recombinant chromosomes using co-dominant DNA markers**

A study of homoeologous recombination along almost the complete genetic length of two homoeologous chromosomes in the Triticeae was conducted. Sears' phlb mutant was used to induce homoeologous pairing between chromosomes 7A of common wheat and 7Ai–l of Agropyron intermedium. 390 ph1b ph1b homozygous F₃ progeny were screened using six co-dominant DNA markers (RFLP loci). 63 of the progeny (16%) were putative recombinants, showing dissociation of RFLP markers within the arm(s). Progeny tests of self-fertile putative recombinants confirmed the dissociation phenotypes observed in the F₃ progeny. No recombination could be confirmed in 117 F₃ progeny plants having the Ph1– allele (control population). Frequencies and distribution of chiasmata along the chromosome arm 7AS were analysed using additional RFLP markers. The patterns of recombination between the two homoeologous chromosomes were found similar to those reported for homologous recombination between the same markers on short arms of group 7 chromosomes of Triticeae.     

Genomic conflict drives patterns of X‐linked population structure in Drosophila neotestacea

Intragenomic conflict has the potential to cause widespread changes in patterns of genetic diversity and genome evolution. In this study, we investigate the consequences of sex‐ratio (SR) drive on the population genetic patterns of the X‐chromosome in Drosophila neotestacea. An SR X‐chromosome prevents the maturation of Y‐bearing sperm during male spermatogenesis and thus is transmitted to ~100% of the offspring, nearly all of which are daughters. Selection on the rest of the genome to suppress SR can be strong, and the resulting conflict over the offspring sex ratio can result in the accumulation of multiple loci on the X‐chromosome that are necessary for the expression of drive. We surveyed variation at 12 random X‐linked microsatellites across 16 populations of D. neotestacea that range in SR frequency from 0% to 30%. First, every locus was differentiated between SR and wild‐type chromosomes, and this drives genetic structure at the X‐chromosome. Once the association with SR is accounted for, the patterns of differentiation among populations are similar to the autosomes. Second, within wild‐type chromosomes, the relative heterozygosity is reduced in populations with an increased prevalence of drive, and the heterozygosity of SR chromosomes is higher than expected based on its prevalence. The combination of the relatively high prevalence of SR drive and the structuring of polymorphism between the SR and wild‐type chromosomes suggests that genetic conflict because of SR drive has had significant consequences on the patterns of X‐linked polymorphism and thus also probably affects the tempo of X‐chromosome evolution in D. neotestacea.     

Localisation of reiterated nucleotide sequences in Drosophila and mouse by in situ hybridisation of complementary RNA

The location of highly reiterated nucleotide sequences on the chromosomes has been studied by the technique of in situ hybridisation between the DNA of either Drosophila melanogaster salivary gland chromosomes or mouse chromosomes and tritium labelled complementary RNA (c-RNA) transcribed in vitro from appropriate templates with the aid of DNA dependent RNA polymerase extracted from Micrococcus lysodeikticus. The location of the hybrid material was identified by autoradiography after RNase treatment. — When Drosophila c-RNA, transcribed from whole DNA, was annealed with homologous salivary chromosomes in the presence of formamide the well defined labelling was confined to the chromocentre. With heat instead of formamide denaturation there was evidence of discontinuous labelling in various chromosome regions as well, apparently associated with banding. Xenopus ribosomal RNA showed no evidence of annealing to Drosophila chromosomes with the comparatively short exposure times used here. — When mouse satellite DNA was used as template the resulting c-RNA showed no hybridisation to Drosophila chromosomes but, when annealed with mouse chromosomes, the centromeric regions were intensely labelled. The interphase nuclei showed several distinct regions of high activity which suggested aggregation of centromeric regions of both homologous and non-homologous chromosomes. The results of annealing either c-RNA or labelled satellite DNA to homologous chromosomes were virtually indistinguishable. Incubation of Drosophila c-RNA with mouse chromosomes provided no evidence of localisation of grains. — It is inferred that both in mouse and Drosophila the centromeric regions of all chromosomes are enriched in highly reiterated sequences. This may be a general phenomenon and it might be tentatively suggested that the highly reiterated sequences play some role in promoting the close physical approximation of homologous and non-homologous chromosomes or chromosome regions to facilitate regulation of function.     

Individual inversions or their combinations: which is the main selective target in a natural population of Drosophila subobscura?

It is generally accepted that chromosomal inversions have been key elements in adaptation and speciation processes. In this context, Drosophila subobscura has been, and still is, an excellent model species due to its rich chromosomal polymorphism. In this species, many analyses from natural populations have demonstrated the adaptive potential of individual inversions (and their overlapped combinations, the so‐called arrangements). However, little information is available on the evolutionary role of combinations generated by inversions located in homologous and nonhomologous chromosomes. The aim of this research was to ascertain whether these combinations are also a target for natural selection. For this objective, we have studied the inversion composition of homologous and nonhomologous chromosomes from a D. subobscura sample collected in a well‐studied population, Mount Avala (Serbia). No significant deviation from H‐W expectations was detected, and when comparing particular karyotypic combinations, likelihood ratios close to 1 were obtained. Thus, it seems that for each pair of homologous chromosomes inversions no deviation from randomness was detected. Finally, no linkage disequilibrium was observed between inversions located in different chromosomes of the karyotype. For all these reasons, it can be assumed that, at the cytological level, the individual inversions rather than their combinations in different chromosomes are the main target of selection.     

Cytology of the autotriploid allium rubellum

Summary Of A. rubellum, already known as a diploid (2n=16), a triploid form has been collected from Pathankot. All the 24 chromosomes in the latter possess median to submedian kinetochores. Of these, 6 are nucleolar chromosomes, which do not represent 3 truly morphologically homologous pairs.Meiosis is characterised by the presence of quadrivalents, trivalents, bivalents and univalents. Out of these, trivalents are the most common and often as many as 8 were seen in a cell. Anaphase-I distribution is irregular and shows bridge-fragment configurations, lagging chromosomes and micronuclei. The subsequent course of meiosis is also not normal and results in sterility.In view of the high frequency of trivalents, the triploid form appears to be an autotriploid and the karyotypic heterozygosity points to an intervarietal origin. It maintains itself because of the efficient vegetative reproduction.     

Comparative FISH analysis of C-positive regions of chromosomes of wood mice (Rodentia,Muridae, <Emphasis Type="Italic">Sylvaemus</Emphasis>)

The homology of DNA of C-positive centromeric regions of chromosomes in wood mice of the genus Sylvaemus (S. uralensis, S. fulvipectus, S. sylvaticus, S. flavicollis, and S. ponticus) was estimated for the first time. DNA probes were generated by microdissection from the centromeric regions of individual autosomes of each species, and their fluorescence in situ hybridization (FISH) with metaphase chromosomes of representatives of all studied wood mouse species was carried out. Unlike in the chromosomal forms and races of S. uralensis, changes in the DNA composition of the chromosomal centromeric regions in the wood mouse species of the genus Sylvaemus (including closely related S. flavicollis and S. ponticus) are both quantitative and qualitative. The patterns of FISH signals after in situ hybridization of the microdissection DNA probes with chromosomes of the species involved in the study demonstrate significant differences between C-positive regions of wood mouse chromosomes in the copy number and the level of homology of repetitive sequences as well as in the localization of homologous repetitive sequences. It was shown that C-positive regions of wood mouse chromosomes can contain both homologous and distinct sets of repetitive sequences. Regions enriched with homologous repeats were detected either directly in C-positive regions of individual chromosomes or only on the short arms of acrocentrics, or at the boundary of C-positive and C-negative regions.     

SELECTION ON OVERDOMINANT GENES MAINTAINS HETEROZYGOSITY ALONG MULTIPLE CHROMOSOMES IN A CLONAL LINEAGE OF HONEY BEE

Correlations between fitness and genome‐wide heterozygosity (heterozygosity‐fitness correlations, HFCs) have been reported across a wide range of taxa. The genetic basis of these correlations is controversial: do they arise from genome‐wide inbreeding (“general effects”) or the “local effects” of overdominant loci acting in linkage disequilibrium with neutral loci? In an asexual thelytokous lineage of the Cape honey bee (Apis mellifera capensis), the effects of inbreeding have been homogenized across the population, making this an ideal system in which to detect overdominant loci, and to make inferences about the importance of overdominance on HFCs in general. Here we investigate the pattern of zygosity along two chromosomes in 42 workers from the clonal Cape honey bee population. On chromosome III (which contains the sex‐locus, a gene that is homozygous‐lethal) and chromosome IV we show that the pattern of zygosity is characterized by loss of heterozygosity in short regions followed by the telomeric restoration of heterozygosity. We infer that at least four selectively overdominant genes maintain heterozygosity on chromosome III and three on chromosome IV via local effects acting on neutral markers in linkage disequilibrium. We conclude that heterozygote advantage and local effects may be more common and evolutionarily significant than is generally appreciated.     

The somatic chromosomes of a wild population of rats: numerical polymorphism

The karyotype and quantitative characteristics of a wild population of rats, Rattus rattus, were studied. Individuals of the population were classified into three distinct groups, each with a characteristic chromosome number of 38, 42 and ± 54 respectively. The frequency distribution of the three groups of rats in the sample studied was as follow: group I with 38 chromosomes formed 14%, group II with 42 chromosomes formed 54% and group III rats have had chromosome numbers varying between 50–60 formed 32%. The rats with 38 chromosomes had two pairs of marker chromosomes (2 long metacentric pairs). Those of group III were characterised by having a marked decrease or complete absence of short metacentric chromosomes with a simultaneous increase in the frequency of short telocentric chromosomes. Group II rats had more or less the chromosomal characteristics established for laboratory rats studied by previous workers. The total chromosomal length of somatic cells in either group I and II were found to be similar. The notable chromosomal polymorphism in number was explained in terms of centromeric fusion or dissociation.     

Chromosome 1 in crested and marbled newts (Triturus)

The heteromorphic chromosomes 1 of Triturus cristatus carnifex and T. marmoratus were studied in mitotic metaphase after staining with the Giemsa C-banding technique and with the fluorochromes, DAPI (AT-specific) and mithramycin (GC-specific). They were also examined in the lampbrush form under phase-contrast before fixation and after fixation and staining with Giemsa. Chromosomes 1 of T.c. carnifex are asynaptic and achiasmatic throughout most of their long arms. They are also heteromorphic in most of their long arms for the patterns of Giemsa and fluorochrome staining and the distribution of distinctive lampbrush loops. The heteromorphic regions correspond to the regions that are asynaptic and achiasmatic. They stain more strongly with mithramycin and more weakly with DAPI than the remainder of the chromosomes, signifying that their DNA is relatively rich in GC. The patterns of staining with Giemsa and fluorochromes and the distributions of distinctive lateral loops vary from one animal to another in the same species and even in the same population. The asynaptic and achiasmatic regions of chromosomes 1 in T. marmoratus extend throughout the whole of the long arms and well beyond the heterochromatic region. Chiasmata form only in the short arm and occasionally in the short euchromatic segment at the tip of the long arms. The staining patterns of chromosomes 1 in T. marmoratus differ from those in T.c. carnifex although, like carnifex, their DNA is relatively GC-rich. The chromosomes 1 of T. marmoratus are more submetacentric than those of T.c. carnifex. In T. marmoratus chromosome 1B is about 12% shorter than 1A. There is a short paracentric inversion heterozygosity in the long arm of chromosome 1B in T. marmoratus which probably accounts for the lack of chiasmata in the euchromatin that separates the centromere from the start of the heterochromatin. In both carnifex and marmoratus, embryos that are homomorphic for chromosome 1 arrest and die at the late tailbud stage of development. The same applies to F₁ hybrid embryos T.c. carnifex x T. marmoratus, and this has permitted identification of chromosomes 1A and 1B in both species. There is no correspondence between patterns of Giemsa or fluorochrome staining of the heteromorphic regions of chromosome 1 and any feature of the lampbrush chromosomes. However, the short euchromatic ends of the long arms of chromosomes 1 in both species are distinguished in the lampbrush form by a series of uniformly small loops of fine texture associated with very small chromomeres. The Giemsa C-staining patterns of both chromosomes 1A and 1B are different in each of the four subspecies of T. cristatus. T.c. karelinii stands out by having unusually large masses of Giemsa C-staining centromeric heterochromatin on all but 1 of its 12 chromosomes. A scheme is proposed for the evolution of chromosome 1 in T. cristatus and T. marmoratus, based on all available cytological and molecular data.     

Autosyndetic pairing in Gibasis (Commelinaceae) hybrids revealed by C-banding

Two closely related species of Gibasis, G. karwinskyana and G. consobrina, and their F₁ hybrids were studied cytologically at the diploid and tetraploid level. Despite similarity in their basic karyotype, pairing was extremely limited in the diploid hybrid and almost exclusively autosyndetic in the tetraploid, except for multivalent formation due to interchange heterozygosity. The analysis was considerably facilitated by the use of C-banding techniques at meiosis, by which the chromosomes of each species could be readily identified. In the parents, quadrivalents were formed between homologous but non-identical chromosomes, which also formed autosyndetic bivalents in the hybrids. Meiotic pairing in the hybrids was unaffected by polytypy for C-bands among different populations of the parental species.     

A molecular study of X isochromosomes: parental origin, centromeric structure, and mechanisms of formation.

Fourteen individuals with an i(Xq) or idic(Xq) were studied using RFLP analysis in order to determine both parental origin and extent of heterozygosity of the isochromosome and to search for the presence of short-arm material. In five cases the isochromosome was paternally derived, while nine patients had a maternal i(Xq). The analysis of heterozygosity of the nine maternally derived isochromosomes by using Xq markers showed heterozygosity in two cases, suggesting an origin from two homologous X chromosomes. Homozygosity was found at all informative loci in seven cases, which therefore are probably the product of either centromere misdivision or sister-chromatid exchange. Presence of Xp markers was seen both in the three i(Xq) chromosomes which appeared dicentric by cytogenetic analysis and in three additional cytogenetically monocentric cases. Mean parental ages were greater for the maternally derived cases as compared with the paternally derived cases.     

Crossing-over in the long arm of the X and Y chromosomes in Anopheles culicifacies

Genetic and cytogenetic investigations of two unstable Y-linked translocations in Anopheles culicifacies indicate that crossing over can occur between the X and Y chromosomes in this species. Moreover, these observations suggest that the long arms of the X and Y chromosomes are homologous and that the sex determining mechanism(s) is located in the short arms.     

Differential response of constitutive and facultative heterochromatin in the manifestation of mitomycin induced chromosome aberrations in Chinese hamster cells in vitro

The distribution of chromatid aberrations induced by mitomycin C among the individual chromosomes of female and male Chinese hamster cells in vitro was studied. The aberrations were found to be non-randomly distributed. Among the autosomes, the chromosomes possessing constitutive heterochromatin were more often involved in aberrations as well as in homologous exchanges. The inactivated X chromosomes in the female cells offer a situation where the short arm is facultatively heterochromatic and the long arm constitutively heterochromatic, thus enabling an analysis of their response for aberration formation. The short arm was seldom found to be involved in the aberration. The long arm of the inactivated X was more often affected (5 to 10 times) than the long arm of the functional X though both are constitutively heterochromatic. The possible role of (a) structure of heterochromatin, (b) the chromocenter formation and their association, (c) allocycly, and (d) the qualitative differences in the DNA of different types of heterochromatin are discussed in relation to the formation of chromatid aberrations.     

Identification and mapping of genetic loci affecting the free-threshing habit and spike compactness in wheat (<Emphasis Type="Italic">Triticum aestivum</Emphasis> L.)

Recombinant inbred lines of the International Triticeae Mapping Initiative (ITMI) mapping population were used to localize genetic loci that affect traits related to the free-threshing habit (percent threshability, glume tenacity, and spike fragility) and to spike morphology (spike length, spikelet number, and spike compactness) of wheat (Triticum aestivum L.). The ITMI population was planted in three environments during 1999 and 2000, and phenotypic and genotypic data were used for composite interval mapping. Two quantitative trait loci (QTL) that consistently affected threshability-associated traits were localized on chromosomes 2D and 5A. Coincident QTL on the short arm of 2D explained 44% of the variation in threshability, 17% of the variation in glume tenacity, and 42% of the variation in rachis fragility. QTL on chromosomes 2D probably represent the effect of Tg, a gene for tenacious glumes. Coincident QTL on the long arm of 5A explained 21% and 10% of the variation in glume tenacity and rachis fragility, respectively. QTL on 5A are believed to represent the effect of Q. Overall, free-threshing-related characteristics were predominantly affected by Tg and to a lesser extent by Q. Other QTL that were significantly associated with threshability-related traits in at least one environment were localized on chromosomes 2A, 2B, 6A, 6D, and 7B. Four QTL on chromosomes 1B, 4A, 6A, and 7A consistently affected spike characteristics. Coincident QTL on the short arm of chromosome 1B explained 18% and 7% of the variation in spike length and spike compactness, respectively. QTL on the long arm of 4A explained 11%, 14%, and 12% of the variation in spike length, spike compactness, and spikelet number, respectively. A QTL on the short arm of 6A explained 27% of the phenotypic variance for spike compactness, while a QTL on the long arm of 7A explained 18% of the variation in spikelet number. QTL on chromosomes 1B and 6A appear to affect spike dimensions by modulating rachis internode length, while QTL on chromosomes 4A and 7A do so by affecting the formation of spikelets. Other QTL that were significantly associated with spike morphology-related traits, in at least one environment, were localized on chromosomes 2B, 3A, 3D, 4D, and 5A.Communicated by J. Dvorak     

Inverted meiosis and the evolution of sex by loss of complementation

Inverted meiosis, in which sister chromatids segregate before homologous chromosomes, is a common aberration of conventional meiosis (in which sister chromatids segregate after homologous chromosomes) and is routinely observed in certain species. This raises an evolutionary mystery: what is the adaptive advantage of the more common, conventional order of segregation in meiosis? I use a population genetic model to show that asexual mutants arising from inverted meiosis are relatively immune from the deleterious effects of loss of complementation (heterozygosity), unlike the asexual mutants arising from conventional meiosis, in which loss of complementation can outweigh the two‐fold cost of meiosis. Hence, asexual reproduction can replace sexual reproduction with inverted meiosis, but not with conventional meiosis. The results are in line with analogous considerations on other alternative types of reproduction and support the idea that amphimixis is stable in spite of the two‐fold cost of meiosis because loss of complementation in mutant asexuals outweigh the two‐fold cost.     

Somatic association of telocentric chromosomes carrying homologous centromeres in common wheat

Summary Measurements of distances between telocentric chromosomes, either homologous or representing the opposite arms of a metacentric chromosome (complementary telocentrics), were made at metaphase in root tip cells of common wheat carrying two homologous pairs of complementary telocentrics of chromosome 1 B or 6 B (double ditelosomic 1 B or 6 B). The aim was to elucidate the relative locations of the telocentric chromosomes within the cell. The data obtained strongly suggest that all four telocentrics of chromosome 1 B or 6 B are spacially and simultaneously co-associated. In plants carrying two complementary (6 B ^S and 6 B ^L) and a non-related (5 B ^L) telocentric, only the complementary chromosomes were found to be somatically associated. It is thought, therefore, that the somatic association of chromosomes may involve more than two chromosomes in the same association and, since complementary telocentrics are as much associated as homologous, that the homology between centromeres (probably the only homologous region that exists between complementary telocentrics) is a very important condition for somatic association of chromosomes. The spacial arrangement of chromosomes was studied at anaphase and prophase and the polar orientation of chromosomes at prophase was found to resemble anaphase orientation. This was taken as good evidence for the maintenance of the chromosome arrangement — the Rabl orientation — and of the peripheral location of the centromere and its association with the nuclear membrane. Within this general arrangement homologous telocentric chromosomes were frequently seen to have their centromeres associated or directed towards each other. The role of the centromere in somatic association as a spindle fibre attachment and chromosome binder is discussed. It is suggested that for non-homologous chromosomes to become associated in root tips, the only requirement needed should be the homology of centromeres such as exists between complementary telocentrics, or, as a possible alternative, common repeated sequences of DNA molecules around the centromere region.Dedicated to Professor Dr. Marcus M. Rhoades on his 70th birthday.     

黄牡丹八个居群的Giemsa C-带比较研究

应用ＢＳＧ方法对黄牡丹（Ｐａｅｏｎｉａ ｄｅｌａｖａｙｉ ｖａｒ．ｌｕｔｅａ）８个居群的Ｇｉｅｍｓａ Ｃ－带进行了比较研究。８个居群的所有染色体都在着丝点附近显示出了Ｃ－带,所有染色体的长臂上都没有显示Ｃ－带,而短臂上的Ｃ－带数量和位置在居群之间表现出了一定的差异。花甸凡居群手第二、第三、第四和第五对染色体显示端带;卓干山居群的第一、第三、第四和第五对染色体的短臂上没有显示Ｃ－带。在所研究的８个居