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PubMedDate not supplied

Chromosome mosaicism in cleavage-stage human embryos: evidence of a maternal age effect.

The present study evaluated mosaicism in a large series of cleavage-stage human embryos analysed by fluorescence in-situ hybridization. Only embryos with at least three cells analysed were included (n = 1235), of which 556 were mosaics. The most common types of mosaicism were chaotic (48%), diploid/polyploid (26%), and those caused by mitotic non-disjunction (25%). The number of abnormal cells per embryo ranged from 44% in diploid/polyploid to 84% in chaotic mosaics. Chromosome 16 was most commonly involved in mitotic non-disjunction mosaics. While overall mosaicism did not increase with maternal age, the average maternal age of the embryos that had mosaics caused by mitotic non-disjunction was significantly higher than that for normal or other mosaic embryos (P < 0.001). During the cleavage stage, the embryonic genome is not yet fully activated and consequently the mRNA and protein pools are still similar to those found in the oocyte. We therefore propose that the malfunctioning of the meiosis apparatus, which is similar to the mitotic one, may cause either meiotic errors or mitotic non-disjunction at cleavage-stage embryo development.

Analysis of Variance↗

PubMed2006

Relationship of recombination patterns and maternal age among non-disjoined chromosomes 21.

Advancing maternal age has long been identified as the primary risk factor for human chromosome trisomy. More recently, altered patterns of meiotic recombination have been found to be associated with non-disjunction. We have used trisomy 21 as a model for human non-disjunction that occurs during the formation of oocytes to understand the role of maternal age and recombination. Patterns of recombination that increase the risk for non-disjunction of chromosome 21 include absence of any exchange, an exchange near the centromere or a single, telomeric exchange. Our recent work has shown that different susceptibility patterns are associated with the origin of the meiotic error and maternal age. For MI (meiosis I) errors, the proportion of oocytes with susceptible recombination patterns is highest among young mothers and decreases significantly in the oldest age group. In fact, the pattern of exchanges among the oldest age group mimics the pattern observed among normally disjoining chromosomes 21. These results suggest that oocytes of younger women, with functional meiotic apparatus and/or robust ovarian environment, are able to properly resolve all but the most susceptible exchange patterns. As women age, however, meiotic mechanisms erode, making it difficult to resolve even stable exchange events. Interestingly, our preliminary recombination results on MII errors reveal the opposite relationship with maternal age: susceptible pericentromeric exchanges occur most often in the older age group compared with the younger age group. If confirmed, we will have further evidence for multiple risk factors for non-disjunction that act at different times in the meiotic process.

Chromosomes, Human, Pair 21↗

PubMed1989

The genetic analysis of distributive segregation in Drosophila melanogaster. I. Isolation and characterization of Aberrant X segregation (Axs), a mutation defective in chromosome partner choice.

We describe the isolation and characterization of Aberrant X segregation (Axs), a dominant female-specific meiotic mutation. Although Axs has little or no effect on the frequency or distribution of exchange, or on the disjunction of exchange bivalents, nonexchange X chromosomes undergo nondisjunction at high frequencies in Axs/+ and Axs/Axs females. This increased X chromosome nondisjunction is shown to be a consequence of an Axs-induced defect in distributive segregation. In Axs-bearing females, fourth chromosome nondisjunction is observed only in the presence of nonexchange X chromosomes and is argued to be the result of improper X and fourth chromosome associations within the distributive system. In XX females bearing a compound fourth chromosome, the frequency of nonhomologous disjunction of the X chromosomes from the compound fourth chromosome is shown to account for at least 80% of the total X nondisjunction observed. In addition, Axs diminishes or ablates the capacity of nonexchange X chromosomes to form trivalents in females bearing either a Y chromosome or a small free duplication for the X. Axs also impairs compound X from Y segregation. The effect of Axs on these segregations parallels the defects observed for homologous nonexchange X chromosome disjunction in Axs females. In addition to its dramatic effects on the X chromosome, Axs exerts a similar effect on the segregation of a major autosome. We conclude that Axs defines a locus required for proper homolog disjunction within the distributive system.

Animals↗

PubMed2001

Le Fort I osteotomy with sparing fracture of lateral pterygoid plate.

This study aimed to clarify the relation between the anatomical variations of the pterygomaxillary region and fracture of the pterygoid plate during Le Fort I osteotomy. We present a secure method to separate maxillary tuberosities from pterygoid plates without injuring the pterygoid plates. Thirty specimens of hemisection of Korean skulls were used for the study. The maxilla was sectioned transversely on the floor of the pyriform aperture and posteriorly to the lateral pterygoid plate with a mechanical saw. The section was 5 to 6 mm above the tooth roots. The pterygomaxillary junction was separated with a curved osteotome in two steps: initially with light tapping of the shallow groove 2 to 3 mm anterior to the pterygomaxillary fissure at a half right angle and then changing the course of forceful tapping to more than 60 degrees. The maxillary tuberosity separated from the medial and lateral pterygoid plates during the procedure was grouped into the "disjunction group" (24 of 30, 80%) and the pterygoid plates fractured were grouped into the "fracture group" (6 of 30, 20%). The thickness of the pterygomaxillary region (T) was significantly greater in the disjunction group than in the fracture group (P = 0.034). The concavity of the pterygomaxillary fissure (C) was significantly deeper in the disjunction group than in the fracture group (P = 0.020). There was no significant difference of width of the pterygomaxillary fissure between the disjunction group and the fracture group (P = 0.169). The thin pterygomaxillary region and less concave pterygomaxillary fissure on the preoperative computed tomography scan draw precautionary attention to vulnerable pterygoid plates fractured in the procedure of Le Fort I osteotomy.

Adult↗

PubMed1977

The genetic analysis of meiosis in female Drosophila melanogaster.

The three major features of meiosis are first synapsis, then exchange, and finally, disjunction of homologous chromosomes; these phenomena occur before pachytene, during pachytene, and after pachytene respectively. The effects of meiotic mutants, or other perturbations, either endogenous or exogenous, on the meiotic process may be assigned tentatively to one of these intervals, based on the earliest discernible abnormality. Thus mutants exhibiting abnormal disjunction and normal exchange affect post-pachytene functions; mutants exhibiting abnormal disjunction and exchange but with ultrastructurally normal appearing synaptonemal complex affect pachytene functions; and mutants with abnormal disjunction, exchange, and synaptonemal complex affect prepachytene functions. This rationale is applied to the temporal seriation of effects of meiotic mutants and chromosomal abnormalities on the meiotic programme.

Animals↗

PubMed2007

Phylogeographic concordance in the southeastern United States: the flatwoods salamander, Ambystoma cingulatum, as a test case.

Well-supported, congruent phylogeographic and biogeographic patterns permit the development of a priori phylogeographic and distributional predictions. In the southeastern Coastal Plain of the United States, the common discovery of east-west disjunctions (phylogeographic breaks and species' distributional boundaries) suggests that similar disjunctions should occur in codistributed taxa. Despite the near ubiquity of these disjunctions, the most recent morphological analyses of the flatwoods salamander, Ambystoma cingulatum, indicate that none occur in this low-vagility, Coastal Plain endemic. We conducted molecular and morphological analyses to test whether the flatwoods salamander is an exception to this common biogeographic pattern. Assessing geographic variation in this species is also an important management tool for this threatened, declining amphibian. We demonstrate that flatwoods salamanders, as predicted by comparisons to codistributed taxa, are polytypic with a major disjunction at the Apalachicola River. This drainage is a common site for east-west phylogeographic breaks, probably because repeated marine embayments during the Pliocene and Pleistocene interglacials generated barriers to gene flow. Based on mitochondrial DNA, morphology, and allozymes, we recognize two species of flatwoods salamanders -- Ambystoma cingulatum to the east of the Apalachicola drainage and Ambystoma bishopi to the west. Given this increased diversity, the conservation status of these two taxa may warrant re-evaluation. More generally, these results emphasize that in the absence of taxon-specific data, established comparative patterns can provide strong expectations for designing management units for unstudied species of conservation concern.

Ambystoma↗

PubMed1988

A histological study of the atrioventricular junction in hearts with normal and prolapsed leaflets of the mitral valve.

The mitral annulus is the point at which the atrial and ventricular walls meet the base of the mitral valve cusps. The suggestion that a variant of this arrangement termed "disjunction" was associated with prolapse of the leaflets prompted examination of the mitral atrioventricular junctions in seven normal hearts and six with prolapse owing to floppy mitral valves. A complete cord-like ring of connective tissue that encircled the atrioventricular junction and into which the three components were inserted at the same point was found in only one heart. The remaining hearts all showed a mixture of segments in which either the three components were inserted into a cord or simply met. Disjunction, defined as a separation of the atrial wall-mitral valve junction from the other component, the left ventricular wall, can occur both with and without a cord-like annulus. There was no significant difference in the number of segments around the left atrioventricular junction which showed disjunction in hearts with normal or prolapsing leaflets. The feature termed disjunction is an anatomical variation of the normal morphological characteristics of the left atrioventricular junction.

Aged↗

PubMed1999

[The contact model of crossing over: definition of conditions required for the co-orientation of homologs].

Three phenomena have been examined: (1) independence of the segregation of structurally normal homologues from the position of crossover exchange relative to the centromere; (2) independence of chromosomal rearrangement ability to disturb disjunction from its position on chromosome; and (3) dependent, predominantly distal position of crossover exchanges in nondisjunction chromosomes. All three phenomena are explained in terms of the contact model of crossing over. According to the model, disjunction of the homologues is provided by a series of local contacts between them. The maximal number of contacts per arm is constant and is determined by the size of the absolute interference zone. The co-orientating influence of the contact decreases with the movement of its site away from the centromeric region responsible for the co-orientation. The role of the contact consists of bringing the centromeric regions of the homologues together. Co-orientation success does not depend on the presence or absence of a crossover exchange at the site of the contact. The nondisjunction chromosomes are selected with regard to the absence of proximal (or close to proximal) contacts. Hence, the exchanges formed on the basis of these contacts, are co-orientation-associated. In the disjunction chromosomes, the entire set of contacts is present. Any of these can be the first to develop and generate a crossover exchange. Because of this, exchanges in the disjunction chromosomes do not demonstrate association with the co-orientation. According to the model, the distortion of the previous contact disturbs (retards or prevents) the formation of the next contact. Hence, distortion of the contact formation in the site of rearrangement, irrespective to its location, would negatively affect the formation of the contact in the proximal region, and would promote nondisjunction.

Animals↗

PubMedDate not supplied

[The intraspecific differentiation of the burrow tick Ixodes crenulatus (Ixodidae)].

In four extensive disjunct areas of the distribution range of Ixodes crenulatus Koch, 1844 complexes of samples in 8 locations, and separate samples in two locations have been studied (fig.). Morphological characters (sizes of organs of idiosome, gnathostoma, legs, as well as some proportions of organs), which show statistically significant differences between complexes of samples on all corresponding stages of ontogenesis were revealed (tabl. 1, 2). Statistically significant differences were determined by Student's criterion (table. 3, 4). We use the term "transit" characters to denote these characters if they have to addition a similar tendency at all stages of ontogenesis. Complexes of samples showing statistically significant differences of transit characters are considered by us as morphotypes. Apparently these differences of morphotypes were formed evolutionally. In European disjunct area morphotypes divided into two groups on the basis of the degree of differences: western (A, B), and eastern (C, D, E). Degree of differences of morphotypes within each group is low, whereas one between of these two groups is high and corresponds to differences of morphotypes A, B from all Asian morphotypes (F, G, H, I, J), and of morphotypes C, D, E from Asian ones in mountain disjunct areas I. crenulatus (G, H, I, J). At the same time Eastern-European complex of morphotypes (C, D, E) is morphologically similar to the morphotype from north Kazakhstan disjunct area (F). All Asian morphotypes have high degree of differences one from the other. Species of the genus Marmota are initial hosts of I. crenulatus, they retain the main role as hosts in Eastern-European and Asian morphotypes: C, D, E, F--M. bobac bobac (Muller, 1776), G--M. baibacina centralis (Thomas, 1909), I, J--M. sibirica sibirica (Radde, 1862). The most aberrant in all characters morphotypes are the ones inhabiting European areas (A, B), where marmots are exterminated. These morphotypes parasitize on hibernating carnivores.

Animals↗

PubMed2006

Different mechanisms of mitotic instability in cancer cell lines.

Chromosomes of human malignant tumours display not only structural recombinations but also a wide variety of mostly non-random numerical aberrations. However, only little is known about the mechanisms leading to recurrent aneuploidies. We therefore investigated whether the malsegregation of specific chromosomes is due to a defect of the mitotic spindle apparatus. We analyzed mitoses of cell lines of six gliomas and of one breast carcinoma by combined immunohistochemistry and fluorescence in situ hybridization for non-disjunction of chromosomes 7, 8, 10, 12, 17, and 18 and observed three different phenomena. i) Five of six glioma cell lines showed a bipolar spindle but displayed a chromosome-specific malsegregation of all chromosomes studied with high but significantly different frequencies. Chromosomes 7 and 8 showed non-disjunction in about 75 and 50%, respectively. Although chromosomes 10, 12, 17, and 18 displayed equal separation during mitosis in 72, 86, 73, and 78%, respectively, a relevant percentage of an average of 24% of dividing cells showed even malsegregation of these chromosomes. ii) Only one of the glioma cell lines displayed multipolar spindles in one-third of the investigated cells resulting in non-specific aneuploidy. iii) The breast cancer cell line MCF7 displayed a bipolar spindle, but high frequencies of non-disjunction of all six investigated chromosomes but without preferential loss or gain of specific chromosomes indicating a different mechanism of chromosome malsegregation. In a small percentage of mitoses the chromatids of both homologous chromosomes were not separated mimicking the mechanism in the first meiotic division. This mechanism of double non-disjunction, not detectable by conventional cytogenetic analysis, procreates cell clones with genomic separation for particular chromosomes resulting in homozygosity for mutations which had been present heterozygously in the initial tumour cells.

Breast Neoplasms↗

PubMed1991

[Frequency and distribution of aneuploidy in human gametes: differences as a function of sex].

The frequency and the distribution of aneuploidies were analysed in both spermatozoa and mature oocyte. The present study has pooled 13,975 human sperm chromosome complements and 1,897 oocyte chromosome complements examined to date. The overall frequency of aneuploidy is 10% in spermatozoa and 22.4% in oocytes. Human sperm is characterized by a significant excess of hypo-haploidies and an equitable distribution of aneuploidies among all chromosome groups, whereas mature oocytes display an equal ratio of hypo-haploidies: hyper-haploidies and a high variability in the distribution of non-disjunctions; in the A, B, C and especially in D and G groups, there is a significant difference between the observed and estimated rates of non-disjunction and the frequencies expected from an equal partitioning of non-disjunctions among all chromosomes. This indicates that non-disjunction is not a random event in female meiosis, and consequently that there are differences in the meiotic process between the sexes.

Aneuploidy↗

PubMed1999

A comparison of the nariokotome Homo erectus with juveniles from a modern human population.

The Nariokotome Homo erectus has an apparent disjunction of inferred age as judged by dental maturity, by epiphyseal closure and by stature, when compared to modern human norms. On this basis, it has been suggested that this fossil hominin differed in its pattern of growth and development from modern humans. In particular, the characteristic human adolescent growth spurt may not yet have been present, and in this sense H. erectus growth would be more ape-like than human-like. This study tests this conclusion by examining the variation in age as inferred from the maturity indicators in a modern human skeletal population of known age. The results show that all of the maturity indicators used in this analysis underage the test skeletons. Furthermore, there is also no consistency between the indicators; they do not agree in their inferred chronological ages. The disjunction between the maturity indicators in the test skeletons is similar in pattern to the disjunction observed in the Nariokotome Homo erectus. This is particularly true of the relationship between dental age and the other two indicators. These results suggest that the pattern observed in Nariokotome is within the normal range of variation found in modern humans. It does not necessarily indicate a different pattern of growth and development.

Adolescent↗

PubMed1992

Promoter-containing ribosomal DNA fragments function as X-Y meiotic pairing sites in D. melanogaster males.

The Drosophila melanogaster ribosomal DNA (rDNA) functions as an X-Y meiotic pairing site. Deletions encompassing the X chromosomal rDNA block (located in the heterochromatin) disrupt X-Y pairing and disjunction. Insertions of single, complete rRNA genes at ectopic locations on the heterochromatically deficient X partially restore X-Y pairing capacity. This study was undertaken to test fragments of an rDNA repeat for the ability to stimulate X-Y pairing and disjunction and to test for relationships between pairing capacity and two other phenotypes associated with rDNA insertions: transcription and the ability to organize a nucleolus. Insertions of three different fragments, all of which retained the rDNA promoter and upstream spacer sequences and which differed among each other in the length of downstream sequences, were obtained by P-element mediated transformation. One of the fragments is truncated only 140bp downstream from the promoter. Insertions of all three fragments proved capable of stimulating X-Y disjunction. Double insertions were substantially more effective than single insertions. RNA/PCR analysis was used to show that transcripts initiated at the inserted rDNA promoters are present in testis RNA from all insertions. Treatment with an antinucleolar antibody revealed that none of the insertions was associated with a mininucleolus. Thus promoter-containing rDNA fragments are autonomously capable of being transcribed and of functioning as X-Y pairing sites, but not of forming a mini-nucleolus.

Animals↗

PubMed1999

Similarity between hypotheses and evidence.

We explore two novel consequences of similarity-based likelihood judgment. In Section I, we distinguish between the evidence on which judgments are based and the hypotheses that serve as the objects of judgment. The location of a feature, whether in the evidence or the hypotheses, influences the perceived similarity between evidence and hypotheses and consequently yields judgments that are inconsistent with the requirements of probability theory. In Section II, we examine judgment of disjunctive hypotheses. For certain types of disjunctions, the assessment of similarity produces consistent nonmonotonicities: the support of a disjunction is smaller than that of one of its components. Finally, we discuss the implications of our findings in terms of support theory and the principle of context independence.

Female↗

PubMed1992

Partner choice in heterologous chromosome segregation of the Y chromosome in competitive situations in the oocyte of Drosophila melanogaster.

Heterologous segregation of the Y chromosome and secondary non-disjunction of the X chromosomes in female meiosis of Drosophila melanogaster was investigated in ten different crosses where different constellations of translocation/inversion or translocation/translocation systems of the large autosomes were present in the female parent. It appeared that the Y chromosome always segregates from the shortest of the possible heterologous pairing partners. This may be due to size-dependent mechanism of so-called 'distributive disjunction' or to the possibility that the shorter the chromosome element is, the more easily it moves in the nucleus of the oocyte. Secondary non-disjunction of the X chromosomes appeared to be lower the more possible autosomal pairing partners the Y chromosome had, suggesting that the autosomes effectively compete with the X chromosomes for pairing with the Y chromosome. An alternative explanation is that, due to interchromosomal effect on recombination, crossing over in the X chromosomes was different in different experiments.

Animals↗

PubMed1991

Frequency and distribution of aneuploidy in human female gametes.

During the past 6 years, 14 cytogenetic studies on human oocytes recovered during in vitro fertilization procedures have been published; they report contradictory results. The present survey has pooled the more than 1500 oocyte chromosome complements examined to date, in order to determine generalized trends in chromosomal abnormalities of female gametes. The overall frequency of abnormalities in mature oocytes is 24.0% with a large majority of aneuploidies (22.8%) over structural aberrations (1.2%), which could be explained by the difficulty in the detection of structural abnormalities in oocyte chromosome sets. An analysis of the distribution of non-disjunction among all chromosomes was also performed. In the A, C, D, and especially in the G groups, there is a significant difference between the observed non-disjunction and the frequencies expected from an equal partitioning of non-disjunction among all chromosomes. These data are discussed with reference to the differences obtained from cytogenetic studies on human sperm and from investigations on spontaneous abortion.

Adult↗

PubMed2004

A cytogenetic method for stacking gene pairs in common wheat.

The potential for non-reciprocal Robertsonian translocations of wheat (Triticum aestivum L.) to assist in the stacking of genes was assessed from a study of their cytological and genetic behaviour. To obtain translocations, a double monosomic (3B+5A; 2n=40=19ii+2i) was crossed reciprocally with a contrasting disomic. Individuals inheriting a broken monosome were identified from the loss of one arm-specific DNA marker coupled with retention of a marker for the opposite arm. No double breaks (potential translocations) were found in 180 cross progeny recovered from pollen of the double monosomic but two instances (loss of 5AL plus 3BS; loss of 5AL plus 3BL) were found in 251 progeny recovered from ovules. Meiotic pairing and multi-color genome-specific fluorescence in situ hybridization (mcGISH) showed that each plant with a double break contained one translocated chromosome between the A and B genomes that had rejoined at the centromere and that formed a trivalent (19ii+ liii) in about 83% of PMC. Most trivalents (approximately 92%) aligned at metaphase in a 'V' configuration(alternate disjunction) while the rest aligned in linear 'I'(adjacent disjunction) or ambiguous 'L' configurations. Genetic analysis of a testcross of these 'fusion monosomics' showed that this preferential co-orientation of the trivalent influenced the assortment of the chromosome arms involved. Loci that were located in the hemizygous ends of the 'V' trivalent showed strong quasi-linkage in that most ovules from the female testcross carried relevant DNA markers either from both standard chromosomes or from neither. This shows that, in most cases, the two standard chromosomes assorted to the same pole while the fused monosome segregated to the opposite pole. For heterozygous loci (present both on the fusion monosome and the standard chromosomes) assortment was either independent or showed partial linkage to the hemizygous arm depending on the reported recombination distance from centromere. Marker assortment was further distorted in male testcrosses and in doubled haploids (made from the fusion monosomics by the maize method) by the strong selective advantage of pollen or haploids that inherited the standard chromosomes rather than the deficiencies. This genetic data shows that under the combined influence of alternate disjunction and natural selection, progeny of fusion monosomics will revert to the standard disomic arrangement, fixing the gene content of both hemizygous arms in the process. Thus, any pair of genes could be targeted for joint fixation by isolating the fusion monosome that will link them temporarily in a segregating population.

Chromosome Mapping↗

PubMed1980

Eye movements during the waking-sleep cycle of the encéphale isolé semichronic cat preparation.

In 'semichronic encéphale isolé (EI) cats' the spatio-temporal characteristics of eye displacements were measured with the scleral coil technique, in the dark, during active wakefulness, slow wave sleep and activated sleep. To active waking (AW) there corresponded spatial patterns of ocular movements with a clear-cut monotonous back and forth orientation in the horizontal or slightly oblique plane. Most often the AW patterns showed a periodic behaviour resulting in a true nystagmoid shape since slow, drifting deviations of the eyes were regularly followed by counter-saccades, whose speed very seldom exceeded 100 deg/sec. As slow wave sleep (SS) supervened, this fixed pattern disappeared, being replaced by large, disjunctive, slow (less than 10 deg/sec) deviations with a prevailing vertical orientation. At SS deepest stage the eyes remained still most of the time and always elevated well above the level of direct forward gaze (up to 30--35 degrees). The rare residual movements slowed down more and more, eventually acquiring the characteristics of disjunctive drifts. At the onset of activated sleep (AS) the eyes moved in a downward direction, even reaching a position at 10--15 degrees below the centre of gaze. From this position the globes started to move in the upward direction and executed loop shaped trajectories with the major axis oriented vertically. The loop paths nearly always returned to their original position and only after displaying several loops did the eyes pass, through a slow horizontal deviation, to a new position from which they executed another series of loops over and over again. The fastest phase of the loop pattern corresponded to the upward component (up to 55 deg/sec), in contrast with waking saccades, whose maximal speed was achieved when they were executed over a horizontal or slightly oblique plane. In sharp contrast with disjunctive eye deviations of SS, the AS ocular movements were always conjugated like waking saccades. Both the maximal velocity and the relationship between maximal velocity and amplitude consistently differentiated, however, the fastest (upward) component of AS loop patterns from the quickest (horizontal) AW saccades, the former resulting as if they were somewhat filtered saccades. Nevertheless, the occurrence of a fixed directional orientation in space of a non-random loop-shaped eye movement pattern during AS, must be considered a reflection of well coordinated central oculomotor activity such as that occurring in AW, even if the intrinsic organizations differ from each other.

Animals↗