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Nondisjunction, Genetic (1):
Recent article
Nondisjunction, Genetic
Abstract
We show that a novel chromatin factor, X non-disjunction factor 1 (xnd-1), is responsible for the global distribution of COs in C. elegans. xnd-1 is also required for formation of double-strand breaks (DSBs) on the X, but surprisingly XND-1 protein is autosomally enriched. We show that xnd-1 functio...
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PMID: 20944745
PDF is available here.
PDF is available here.
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Genetics Research (92)3 2010
Abstract
We analysed the family linkage data obtained from short tandem repeat (STR) genotyping of 212 unrelated Indian families having a single Down syndrome (DS) baby each, in order to explore the incidence and aetiology of this human aneuploidy in our cohort. The estimated values of maternal meiotic I and...
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PMID: 20667163
PDF is available here.
PDF is available here.
Development (137)6 2010
Abstract
We show that Arabidopsis thaliana radially swollen 4 (rsw4), a temperature-sensitive mutant isolated previously on the basis of root swelling, harbors a mutation in At4g22970, the A. thaliana separase. Loss of separase function in rsw4 at the restrictive temperature is indicated by the widespread fa...
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PMID: 20150278
PDF is available here.
PDF is available here.
médecine/sciences (26)3 2010
Abstract
Cellular RNAs are invariably organized in ribonucleoprotein particles, or RNPs, regardless of their size, structure or function. RNPs are monitored by active surveillance mechanisms for their structural and functional integrity at every single step of their "life". A limited number of key endoRNase...
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PMID: 20346275
PDF is available here.
PDF is available here.
médecine/sciences (26)3 2010
Abstract
Fifty years after the discovery of the etiology of Down syndrome, trisomy 21 remains the model of choice for studying human diseases resulting from the presence of a chromosome or a chromosome segment in excess. In this review, mechanisms of aneuploidy occurrence and consequences of genomic imbalanc...
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PMID: 20346276
PDF is available here.
PDF is available here.
Abstract
The genetic stability of wheat/rye ('Chinese Spring'/'Imperial') disomic addition lines was checked using the Feulgen method and fluorescent in situ hybridization (FISH). Feulgen staining detected varying proportions of disomic, monosomic, and telosomic plants among the progenies of the disomic addi...
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PMID: 20453302
PDF is available here.
PDF is available here.
Abstract
We show for the first time the unique distribution pattern of MK2 in meiosis. Phospho-MK2 was localized on bipolar spindle minus ends and along the interstitial axes of homologous chromosomes extending over centromere regions and arm regions at metaphase of first meiosis (MI stage) in mouse oocytes....
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PMID: 20596525
PDF is available here.
PDF is available here.
Abstract
We examined: paternal age, recombination and the male/female sex ratio. We genotyped STRs along 21q to identify the origin of the error and the location of recombination on the paternal chromosome. Results showed that 32% of paternal meiotic errors occurred in meiosis I (MI) and 68% in meiosis II (M...
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PMID: 19606484
PDF is available here.
PDF is available here.
Abstract
I or II errors. Through the use of polar body and blastomere diagnosis, euploid embryos suitable for transfer can be identified. Those embryos that are aneuploid are usually discarded, or otherwise can be used to generate chromosomally abnormal human embryonic stem cell (hESC) lines. The authors' ce...
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PMID: 19146778
PDF is available here.
PDF is available here.
Abstract
Here we determine various parameters that influence outcrossing in the hermaphroditic nematode Pristionchus pacificus and compare them to the better known Caenorhabditis elegans. These nematode species are distinct in terms of genetic diversity, which could be explained by differences in outcrossing...
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PMID: 19379507
PDF is available here.
PDF is available here.
BMC Genetics (10)1 2009
Abstract
The centromere of each chromosome was replaced by a centromere that can be blocked by growth in galactose, and ura3::HIS3, a duplication marker. Transient exposure to galactose induced the appearance of colonies carrying duplicated markers for chromosomes III or IV, but not VI. Microarray-based comp...
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PMID: 19594932
PDF is available here.
PDF is available here.
Abstract
We recently observed an increased frequency of binucleated micronucleated lymphocytes in women who had a Down syndrome (DS) child before 35 years of age and the fluorescence in situ hybridization analysis revealed that micronuclei were mainly originating from chromosomal malsegregation events, inclu...
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PMID: 19802501
PDF is available here.
PDF is available here.
Abstract
The occurrence of non-mosaic double trisomy is exceptional in newborns. In this paper, a 48,XXY,+21 child, the parental origin of the extra chromosomes and the evaluation of the maternal folate metabolism are presented. The infant was born to a 13-year-old mother and presented with the typical clini...
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PMID: 19852428
PDF is available here.
PDF is available here.
Abstract
We present a Turner syndrome patient with a 45, X/46, XY mosaicism. A seven-year-old patient was admitted to our laboratory for evaluation of Turner Syndrome. On physical examination, short stature, a webbed neck, a broad chest with widely spaced nipples, syndactyly on toes, horse shoe kidney and ty...
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PMID: 19852431
PDF is available here.
PDF is available here.
Abstract
We demonstrate that two predicted condensin II subunits, Cap-H2 and Cap-D3, are required to promote territory formation. In mutants of either subunit, territory formation fails and chromatin is dispersed throughout the nucleus. Anaphase I is also abnormal in Cap-H2 mutants as chromatin bridges are f...
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PMID: 18927632
PDF is available here.
PDF is available here.
Biochimica et Biophysica Acta (1786)1 2008
Abstract
I discuss the processes that may give rise to aneuploid cells in normal tissue and in tumors. Aneuploid cells may arise directly from diploid cells through errors in chromosome segregation, as a consequence of incorrect microtubule-kinetochore attachments, or through failure of the spindle checkpoin...
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PMID: 18703117
PDF is available here.
PDF is available here.
Pathologie Biologie (56)6 2008
Abstract
In man, the incidence of reproductive failures is high and chromosomal abnormalities remains the major cause of pregnancy wastage. The advent of molecular cytogenetic techniques and assisted reproduction technology have brought forth new approaches for the chromosomal analysis of human oocytes and s...
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PMID: 18534785
PDF is available here.
PDF is available here.
Modern Pathology (21)7 2008
Abstract
We identified three GIST patients with heterozygous KIT-activating mutations at initial presentation, who later recurred with highly aggressive clinical courses. Molecular analysis at recurrence showed total dominance of homozygous (diploid) KIT-activating mutation within a short period of 6-13 mont...
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PMID: 18488000
PDF is available here.
PDF is available here.
Abstract
Polyploidy, a change whereby the entire chromosome set is multiplied, arises through mitotic or meiotic misdivisions and frequently involves unreduced gametes and interspecific hybridization. The success of newly formed angiosperm polyploids is partly attributable to their highly plastic genome stru...
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PMID: 18436776
PDF is available here.
PDF is available here.
Mutation Research (651)1-2 2008
Abstract
We presently employed preantral follicle culture. 100 microg/ml TCF added at the time of hormonally stimulated resumption of meiosis of follicle cell-enclosed mouse oocytes, 16 h before in vitro ovulation, induced significant rises in first meiotic nondisjunction in oocytes from preantral follicle c...
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PMID: 18065258
PDF is available here.
PDF is available here.
Mutation Research (651)1-2 2008
Abstract
These results provide a basis for genetic counselling of patients under AMSA or NOC chemotherapy. During a period of 3-4 months after the end of chemotherapy, they may stand a higher risk of siring chromosomally abnormal offspring....
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PMID: 18069049
PDF is available here.
PDF is available here.
Mutation Research (651)1-2 2008
Abstract
Chromosomal non-disjunction in female meiosis gives rise to reduced fertility and trisomy in humans. Human oocytes, especially from aged women, appear especially susceptible to non-disjunction. The oocyte spindle is crucial for high fidelity of chromosome segregation at meiotic divisions, and altera...
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PMID: 18160331
PDF is available here.
PDF is available here.
Genetika (Moskva) (44)3 2008
Abstract
The effect of mutation for gene Merlin on chromosome disjunction in Drosophila during meiosis was genetically studied. Chromosome nondisjunction was not registered in females heterozygous for this mutation and containing structurally normal X chromosomes. In cases when these females additionally con...
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PMID: 18664148
PDF is available here.
PDF is available here.
Genes & Genetic Systems (83)1 2008
Abstract
These results confirmed previous suggestions that the directed nondisjunction of the rye B chromosome is controlled by two elements, pericentromeric sticking sites and a trans-acting element carried at the distal region of the long arm of the B chromosome. Additionally, it is now shown that the dist...
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PMID: 18379131
PDF is available here.
PDF is available here.
Cytogenetic and Genome Research (120)3-4 2008
Abstract
We are only now beginning to unravel the story in a few favoured species. In this review we concentrate mainly on recent developments in the Bs of rye and maize, two of the species currently receiving most attention. We focus on their population dynamics and on the molecular basis of their structura...
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PMID: 18504356
PDF is available here.
PDF is available here.
Abstract
We describe here a phenotypically normal subject with a cryptic translocation involving the short arms of chromosomes 13 or 21 and 22, who had a son with Down syndrome. Fluorescent in situ hybridization (FISH) on paternal metaphase chromosomes showed a chromosome 22 centromere positive for both 13/2...
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PMID: 18074364
PDF is available here.
PDF is available here.
Chromosome Research (16)4 2008
Abstract
We report here that the mouse Y chromosome from the A/HeJ inbred strain induces similar aberrations in sex determination. Our analyses provide evidence, however, that the mechanism underlying these aberrations is not Y chromosome nondisjunction. On the basis of our findings, we postulate that a muta...
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PMID: 18483871
PDF is available here.
PDF is available here.
Abstract
Trisomy 18 is a devastating genetic disorder that can be characterized by multiple congenital anomalies. Some of these anomalies have no medical significance, but merely provide clues to suggest the diagnosis. The most common form of trisomy 18 is the nondisjunction type, which affects every cell of...
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PMID: 18232589
PDF is available here.
PDF is available here.
Biometrical Journal (49)6 2007
Abstract
We analyze the fraction of non-disjunction in Meiosis I assuming reference (non-informative) priors. We consider Jeffreys's approach to built a non-informative prior (Jeffreys's prior) for the fraction of non-disjunction in Meiosis I. We prove that Jeffreys's prior is a proper distribution. We perfo...
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PMID: 17726717
PDF is available here.
PDF is available here.
Current Biology (17)17 2007
Abstract
We identified a viable bubR1 allele in Drosophila resulting from a point mutation in the kinase domain that retains mitotic SAC activity. In males, we demonstrate a dose-sensitive requirement for BubR1 in maintaining sister-chromatid cohesion at anaphase I, whereas the mutant BubR1 protein localizes...
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PMID: 17702574
PDF is available here.
PDF is available here.
Human Molecular Genetics (16)16 2007
Abstract
We performed a molecular study with 21 microsatellites on a sample of 82 trisomy 13 conceptuses, the largest number of cases studied to date. The parental origin was determined in every case and in 89% the extra chromosome 13 was of maternal origin with an almost equal number of maternal MI and MII...
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PMID: 17584770
PDF is available here.
PDF is available here.
Biology of Reproduction (76)5 2007
Abstract
We exposed denuded mouse oocytes to 2-ME during in vitro maturation. Meiotic progression, spindle morphology, centrosome integrity, and chromosome congression were examined by immunofluorescence and noninvasive polarizing microscopy (PolScope). Chromosomal constituents were assessed after spreading...
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PMID: 17229934
PDF is available here.
PDF is available here.
Abstract
This study investigated the basis of meiosis II nondisjunction. Cold arrest induced a fraction of meiosis II crane fly spermatocytes to form (n + 1) and (n - 1) daughters during recovery. Live-cell liquid crystal polarized light microscope imaging showed nondisjunction was caused by chromosome malor...
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PMID: 17314397
PDF is available here.
PDF is available here.
Mutagenesis (22)3 2007
Abstract
We analyzed cytokinesis-blocked (binucleated) lymphocytes treated with cytochalasin B, from 127 donors varying in gender and age including 53 centenarians. Fluorescent in situ hybridization with probes specific for several autosomes (1, 4, 6, 8, 20) and for the sex chromosomes was applied to analyze...
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PMID: 17284771
PDF is available here.
PDF is available here.
Abstract
We describe a mutation in the common region of mod(mdg4), Z3-3401, that causes qualitatively similar phenotypes as the MNM-specific alleles but disrupts X-Y segregation much more drastically than autosomal segregation. The mutant MNM protein in Z3-3401 is expressed throughout prophase I in spermatoc...
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PMID: 17277376
PDF is available here.
PDF is available here.
Bulletin du cancer (94)4 2007
Abstract
Aneugenic compounds cause chromosome missegregation during cell division and induce aneuploidy in cells that do not die. Aneuploidy is a key step in the progression from a normal cell into a cancerous cell, and it could represent an early event in the carcinogenic process. Missegregation of chromoso...
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PMID: 17449441
PDF is available here.
PDF is available here.
Mutation Research (617)1-2 2007
Abstract
We found that the studied drugs increased MN frequency in a linear dose-dependent manner primarily by chromosome breakage and in a lesser extent by an aneugenic mechanism. Non-disjunction and micronucleation of X-chromosome were also induced. Abnormal metaphase cells were linearly increased with con...
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PMID: 17324445
PDF is available here.
PDF is available here.
Abstract
We show that in yeast smc5-smc6 mutants, which are related to cohesin and condensin, replication is delayed, most significantly at natural replication-impeding loci like the ribosomal DNA gene cluster. In the absence of Smc5-Smc6, chromosome nondisjunction occurs as a consequence of mitotic entry wi...
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PMID: 17347440
PDF is available here.
PDF is available here.
Abstract
Recombination patterns found in this study support the hypothesis that susceptible chiasmate configurations are associated to maternal meiosis I and meiosis II errors. Non-disjunction frequencies between maternal meiotic stages need to be clarified in our population....
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PMID: 17546231
PDF is available here.
PDF is available here.
Plant Cell Online (19)2 2007
Abstract
Supernumerary or B chromosomes are selfish entities that maintain themselves in populations by accumulation mechanisms. The accumulation mechanism of the B chromosome of maize (Zea mays) involves nondisjunction at the second pollen mitosis, placing two copies of the B chromosome into one of the two...
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PMID: 17322406
PDF is available here.
PDF is available here.
Abstract
We have analyzed the segregation of homologous chromosomes at anaphase I in four meiotic mutants of Arabidopsis thaliana, spo11-1-3, dsy1, mpa1, and asy1, which show a high frequency of univalents at diplotene. The segregation pattern of chromosomes 2, 4, and 5 was different in each mutant. Homologo...
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PMID: 17151235
PDF is available here.
PDF is available here.
Mutation Research (626)1-2 2007
Abstract
We investigated the ability of ABZ and ABZSO to induce non-disjunction in cultured human lymphocytes. Non-disjunction was scored by chromosome-specific FISH using a classical or alpha satellite probe for chromosomes 1 and 7, respectively. Significant increase in non-disjunction events that involved...
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PMID: 17055335
PDF is available here.
PDF is available here.
Abstract
Meiotic dysfunction increasingly afflicts women as they age, resulting in infertility, miscarriage and handicapped offspring. How aging disrupts meiotic function in women remains unclear, but as women increasingly delay childbearing, this issue becomes urgent. Telomeres, which mediate aging in mitot...
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PMID: 17219022
PDF is available here.
PDF is available here.
Journal of Andrology (28)3 2007
Abstract
Human Reproduction (21)11 2006
Abstract
Valuable information on the cytogenetic constitution of female gametes has been deduced from the direct, so-called conventional analysis of oocytes remaining unfertilized in programmes of assisted reproduction. Additional, indirect conclusions have become possible by PGD of the polar bodies. Both te...
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PMID: 16982661
PDF is available here.
PDF is available here.
Abstract
We have cloned mus301 and show that it is a member of the Mus308 subfamily of ATP-dependent helicases and the closest homolog of human and mouse HEL308. Functional analyses demonstrate that Mus301 is involved in chromosome segregation in meiosis and in the repair of double-strand-DNA breaks in both...
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PMID: 16888338
PDF is available here.
PDF is available here.
Abstract
We report on the cloning of the tef gene and the molecular characterization of tef mutations. Rescue experiments using a GAL4-driven pUAS transgene demonstrate that tef corresponds to predicted Berkeley Drosophila Genome Project (BDGP) gene CG8961 and that tef expression is required in the male germ...
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PMID: 16816414
PDF is available here.
PDF is available here.
Abstract
We demonstrate that XX <--> Y segregations are indeed presaged by physical associations of the X and Y chromosomal heterochromatin. The physical colocalization of the three sex chromosomes is observed in virtually all oocytes in early prophase and maintained at high frequency until midprophase in al...
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PMID: 16816415
PDF is available here.
PDF is available here.
Abstract
We show that the direct result of chromosome nondisjunction is gain or loss of a single chromosome, which results in near-diploid aneuploidy, not tetraploidy. We suggest that chromatin trapped in the cytokinetic cleavage furrow is the more likely reason for furrow regression and tetraploidization....
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PMID: 16915240
PDF is available here.
PDF is available here.
Mutation Research (607)1 2006
The use of the in vitro micronucleus assay to detect and assess the aneugenic activity of chemicals.
Abstract
The successful validation of the in vitro micronucleus assay by the SFTG now provides the opportunity for this highly cost effective assay to be used to screen chemicals for their ability to induce both structural (clastogenic) and numerical (aneugenic) chromosome changes using interphase cells. The...
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PMID: 16723272
PDF is available here.
PDF is available here.
Journal of Cell Biology (173)6 2006
Abstract
We show that rDNA segregation requires Cdc14 partly because of its physical length but most importantly because a fraction of ribosomal RNA (rRNA) genes are transcribed at very high rates. We show that cells cannot segregate rDNA without Cdc14 unless they undergo genetic rearrangements that reduce r...
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PMID: 16769819
PDF is available here.
PDF is available here.
EMBO Journal (25)12 2006
Abstract
We analyze the functions of six kinetochore-bound MT-associated proteins (kMAPs) using RNAi, live-cell microscopy and quantitative image analysis. We find that RNAi-mediated depletion of two kMAPs, the adenomatous polyposis coli protein (APC) and its binding partner, EB1, are unusual in affecting th...
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PMID: 16763565
PDF is available here.
PDF is available here.
Journal of Biological Chemistry (281)16 2006
Abstract
We have previously reported that FAT10, a member of the ubiquitin-like modifier family of proteins, is overexpressed in several gastrointestinal and gynecological cancers. Here we show that FAT10 interacts with MAD2, a spindle checkpoint protein, during mitosis. Notably, we show that localization of...
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PMID: 16495226
PDF is available here.
PDF is available here.
Trends in Genetics (22)4 2006
Abstract
We present an extension of the 'two-hit' model for sporadic human aneuploidy. An important implication of this model is that the genetic makeup of an individual will influence the threshold where recombinationally at-risk oocytes (hit-1 events) become sensitive to the effects of advancing age (hit-2...
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PMID: 16497408
PDF is available here.
PDF is available here.
Human Reproduction (21)4 2006
Abstract
Similar maternal age-related mechanisms could be implicated in both single and double trisomy. Molecular techniques could be useful in diagnosing not only single but multiple aneuploidy and determining its origin. This will improve our knowledge about mechanisms underlying human aneuploidy, and enab...
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PMID: 16361293
PDF is available here.
PDF is available here.
Mammalian Genome (17)3 2006
Abstract
Aneuploidy results from nondisjunction of chromosomes in meiosis and is the leading cause of developmental disabilities and mental retardation in humans. Therefore, understanding aspects of chromosome segregation in a genetic model is of value. Mice heterozygous for a (2.8) Robertsonian translocatio...
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PMID: 16518691
PDF is available here.
PDF is available here.
Abstract
We also determined the incidence of UPD associated with mosaic aneuploidies and supernumerary markers involving imprinted chromosomes. A total of 273 of a consecutive series of 15,109 CVS evaluated during a period of 5 years showed a mosaic condition in direct preparations and/or long-term cultures;...
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PMID: 16418738
PDF is available here.
PDF is available here.
Abstract
Down's syndrome (DS), a chromosomal disorder due to trisomy 21, results mostly from nondisjunction in maternal meiosis. The present case-control study examined the association of genetic polymorphisms with predisposition to nondisjunction. Two common polymorphisms (SNPs), C677T and A1298C, in the 5,...
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PMID: 16489479
PDF is available here.
PDF is available here.
Cytogenetic and Genome Research (112)3-4 2006
Abstract
We found that such factors do not influence the proneness to nondisjunction of specific chromosomes.
2006 S. Karger AG, Basel....
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PMID: 16484781
PDF is available here.
PDF is available here.
Abstract
We assessed the number of chromosomes 9 and 18 in amniocytes from the following pregnancies: 1. Fourteen of the women had a history of chromosomal aneuploidy in a previous pregnancy (study group). 2. Ten women had previous normal pregnancies (control). 3. Nine samples were assessed in amniocytes tak...
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PMID: 16862483
PDF is available here.
PDF is available here.