Genomes and Genes
Summary: The failure of homologous CHROMOSOMES or CHROMATIDS to segregate during MITOSIS or MEIOSIS with the result that one daughter cell has both of a pair of parental chromosomes or chromatids and the other has none.
Publications139 found, 100 shown here
- Sorting out chromosome errorsJon Cohen
Science 296:2164-6. 2002
- Nondisjunction--a view from ringsideNeil E Lamb
Department of Human Genetics, Emory University, Atlanta, USA
N Engl J Med 351:1931-4. 2004
- SMC1beta-deficient female mice provide evidence that cohesins are a missing link in age-related nondisjunctionCraig A Hodges
Department of Genetics, Case Western Reserve University, Cleveland, Ohio 44106, USA
Nat Genet 37:1351-5. 2005..Additionally, our observations support the hypothesis that deficient cohesion is an underlying cause of human age-related aneuploidy...
- The chemotherapeutic agents nocodazole and amsacrine cause meiotic delay and non-disjunction in spermatocytes of miceSabry M Attia
Department of Pharmacology and Toxicology, Faculty of Pharmacy, Al Azhar University, Nasr City, Cairo, Egypt
Mutat Res 651:105-13. 2008..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...
- The genetic analysis of distributive segregation in Drosophila melanogaster. II. Further genetic analysis of the nod locusP Zhang
Department of Molecular Genetics, Albert Einstein College of Medicine, Bronx, New York 10461
Genetics 125:115-27. 1990..Thus, either the nod locus defines a function that is specific to distributive segregation or exchange can fully compensate for the absence of the nod+ function...
- A deficiency screen of the major autosomes identifies a gene (matrimony) that is haplo-insufficient for achiasmate segregation in Drosophila oocytesDavid Harris
Stowers Institute for Medical Research, Kansas City, Missouri 64110, USA
Genetics 165:637-52. 2003....
- Drosophila BubR1 is essential for meiotic sister-chromatid cohesion and maintenance of synaptonemal complexNicolas Malmanche
Instituto de Biologia Molecular e Celular, Universidade do Porto, Rua do Campo Alegre 823, 4150 180, Porto, Portugal
Curr Biol 17:1489-97. 2007..Our results demonstrate that BubR1 is essential to maintain sister-chromatid cohesion during meiotic progression in both sexes and for normal maintenance of SC in females...
- Identification of two proteins required for conjunction and regular segregation of achiasmate homologs in Drosophila male meiosisSharon E Thomas
Department of Biochemistry, Cellular and Molecular Biology, University of Tennessee, Knoxville, Tennessee 37996, USA
Cell 123:555-68. 2005..SNM and MNM do not colocalize with SMC1, suggesting that the homolog conjunction mechanism is independent of cohesin...
- To err (meiotically) is human: the genesis of human aneuploidyT Hassold
Department of Genetics, Case Western Reserve University, 10, 900 Euclid Avenue, Cleveland, Ohio 44106, USA
Nat Rev Genet 2:280-91. 2001..However, recent molecular and cytogenetic approaches are now beginning to shed light on the non-disjunctional processes that lead to aneuploidy...
- Enhancement of the ncdD microtubule motor mutant by mutants of alpha Tub67CD J Komma
Department of Microbiology, Duke University Medical Center, Durham, North Carolina 27710, USA
J Cell Sci 110:229-37. 1997..These results imply that a specific alpha-tubulin isoform is required for normal cellular function of a kinesin motor protein...
- Chiasma functionA T Carpenter
Department of Genetics, University of Cambridge, England
Cell 77:957-62. 1994
- Molecular characterization of teflon, a gene required for meiotic autosome segregation in male Drosophila melanogasterGunjan H Arya
Biology Department, University of North Carolina, Greensboro, North Carolina 27420, USA
Genetics 174:125-34. 2006..On the basis of these findings, we propose a role for Tef as a bridging molecule that holds autosome bivalents together via heterochromatic connections...
- Chromosome nondisjunction yields tetraploid rather than aneuploid cells in human cell linesQinghua Shi
Department of Cell Biology, Harvard Medical School, 240 Longwood Ave, Boston, Massachusetts 02115, USA
Nature 437:1038-42. 2005..The coupling of spontaneous segregation errors to furrow regression provides a potential explanation for the prevalence of hyperdiploid chromosome number and centrosome amplification observed in many cancers...
- Requiem for distributive segregation: achiasmate segregation in Drosophila femalesR S Hawley
Department of Genetics, University of California, Davis 95616
Trends Genet 9:310-7. 1993..The other system facilitates the segregation of heterologous chromosomes, by an as yet undiscovered mechanism...
- Association between maternal age and meiotic recombination for trisomy 21Neil E Lamb
Department of Human Genetics, Emory University, 615 Michael Street, Atlanta, GA 30322, USA
Am J Hum Genet 76:91-9. 2005..It is this risk, due to recombination-independent factors, that would be most influenced by increasing age, leading to the observed maternal age effect...
- Maternal sex chromosome non-disjunction: evidence for X chromosome-specific risk factorsN S Thomas
Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire SP2 8BJ, UK
Hum Mol Genet 10:243-50. 2001..Thus, surprisingly, the risk factors associated with both MI and MII non-disjunction appear to be different for virtually every chromosome that has been adequately studied...
- A genome-wide screen identifies genes required for centromeric cohesionAdele L Marston
Center for Cancer Research, Howard Hughes Medical Institute, Massachusetts Institute of Technology, E17 233, 40 Ames Street, Cambridge, MA 02139, USA
Science 303:1367-70. 2004..The screen described here provides a comprehensive analysis of the genes required for the meiotic cell cycle and identifies three factors important for the stepwise loss of sister chromatid cohesion...
- Maintenance of sister-chromatid cohesion at the centromere by the Drosophila MEI-S332 proteinT T Tang
Whitehead Institute and Department of Biology, Massachusetts Institute of Technology, Cambridge, Massachusetts USA 02142, USA
Genes Dev 12:3843-56. 1998....
- Identification of novel Drosophila meiotic genes recovered in a P-element screenJ J Sekelsky
Department of Genetics, Section of Molecular and Cellular Biology, University of California, Davis, California 95616, USA
Genetics 152:529-42. 1999..Although most of these are alleles of previously undescribed genes, five were in the known genes alphaTubulin67C, CycE, push, and Trl. The five mutations in known genes produce novel phenotypes for those genes...
- Maternal meiosis I non-disjunction of chromosome 15: dependence of the maternal age effect on level of recombinationW P Robinson
Department of Medical Genetics, University of British Columbia, Vancouver, Canada
Hum Mol Genet 7:1011-9. 1998..However, they may also reflect the presence of multiple factors which act to ensure normal segregation, each affected by maternal age in a different way and varying in importance for each chromosome...
- Effect of meiotic recombination on the production of aneuploid gametes in humansN E Lamb
Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA
Cytogenet Genome Res 111:250-5. 2005..Future studies are expected to shed new light on the timing and placement of recombination, providing additional clues to the link between altered recombination and chromosome nondisjunction...
- Non-disjunction of chromosome 18M Bugge
The John F Kennedy Institute, Glostrup, Denmark
Hum Mol Genet 7:661-9. 1998..We extend this study to examine the remaining autosomes and find no evidence for normal disjunction from nullichiasmate tetrads generally...
- Patterns of meiotic recombination in human fetal oocytesCharles Tease
Department of Biological Sciences, University of Warwick, Coventry CV4 7AL, United Kingdom
Am J Hum Genet 70:1469-79. 2002..We speculate that these abnormal fetal oocytes may be the source of the nonrecombinant chromosomes 13 and X suggested, by genetic studies, to be associated with maternally derived chromosome nondisjunction...
- Spontaneous X chromosome MI and MII nondisjunction events in Drosophila melanogaster oocytes have different recombinational historiesK E Koehler
Department of Genetics, University of California at Davis 95616, USA
Nat Genet 14:406-14. 1996..MII nondisjunction occurred only in oocytes with proximal exchanges. We propose several models to explain how very proximal exchanges might impair proper segregation...
- Centric heterochromatin and the efficiency of achiasmate disjunction in Drosophila female meiosisG H Karpen
Molecular Biology and Virology Laboratory, Salk Institute for Biological Studies, La Jolla, CA 92037, USA
Science 273:118-22. 1996..How heterochromatin could act to promote chromosome pairing is discussed here...
- The genetic analysis of distributive segregation in Drosophila melanogaster. I. Isolation and characterization of Aberrant X segregation (Axs), a mutation defective in chromosome partner choiceA E Zitron
Department of Molecular Genetics, Albert Einstein College of Medicine, Bronx, New York 10464
Genetics 122:801-21. 1989..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...
- Cell biology: nondisjunction, aneuploidy and tetraploidyBeth A A Weaver
Ludwig Institute for Cancer Research and Department of Cellular and Molecular Medicine, University of California, San Diego, La Jolla, California 92093 0670, USA
Nature 442:E9-10; discussion E10. 2006..We suggest that chromatin trapped in the cytokinetic cleavage furrow is the more likely reason for furrow regression and tetraploidization...
- There are two mechanisms of achiasmate segregation in Drosophila females, one of which requires heterochromatic homologyR S Hawley
Department of Genetics, University of California, Davis
Dev Genet 13:440-67. 1992..elegans males. We also suggest that the physical basis of this process may reflect known properties of the Drosophila meiotic spindle...
- Methods for analyzing the spatial distribution of chiasmata during meiosis based on recombination dataKai Yu
Department of Biostatistics, Graduate School of Public Health, University of Pittsburgh, Pennsylvania 15261, USA
Biometrics 58:369-77. 2002..We apply our improved methods to reanalyze a dataset from the literature studying the association between crossover location and meiotic nondisjunction of chromosome 21...
- Genetic analysis of microtubule motor proteins in Drosophila: a mutation at the ncd locus is a dominant enhancer of nodB A Knowles
Department of Molecular Genetics, Albert Einstein College of Medicine, Bronx, NY 10461
Proc Natl Acad Sci U S A 88:7165-9. 1991..The probability that the distributive system will fail is enhanced in females simultaneously haploinsufficient at the nod and ncd loci...
- Isolation and cytogenetic characterization of male meiotic mutants of Drosophila melanogasterKazuyuki Hirai
Drosophila Genetic Resource Center, Kyoto Institute of Technology, Kyoto, 616 8354, Japan
Genetics 166:1795-806. 2004..mei(2)yh92 predominantly induced nondisjunction at meiosis I that appeared to be the consequence of failure of the separation of paired homologous chromosomes...
- The genetic analysis of achiasmate segregation in Drosophila melanogaster. III. The wild-type product of the Axs gene is required for the meiotic segregation of achiasmate homologsW L Whyte
Department of Molecular Genetics, Albert Einstein College of Medicine, Bronx, New York 10461
Genetics 134:825-35. 1993..In the absence of Axs+ function, the homologs are often unable to separate from each other and behave as a single segregational unit that is free to segregate from heterologous chromosomes...
- A model system for increased meiotic nondisjunction in older oocytesCharlotte A Jeffreys
Department of Biological Sciences, Dartmouth College, 6044 Gilman, Hanover, NH 03755, USA
Curr Biol 13:498-503. 2003....
- Molecular analysis of nondisjunction in mice heterozygous for a Robertsonian translocationLara A Underkoffler
Division of Human Genetics, The Children s Hospital of Philadelphia, Philadelphia, PA 19104, USA
Genetics 161:1219-24. 2002..These results show that molecular genotyping provides a valuable tool for understanding factors influencing meiotic nondisjunction in mammals...
- Two new X-autosome Robertsonian translocations in the mouse. I. Meiotic chromosome segregation in male hemizygotes and female heterozygotesC Tease
MRC Radiobiology Unit, Didcot, Oxon, U K
Genet Res 58:115-21. 1991....
- 2-methoxyestradiol induces spindle aberrations, chromosome congression failure, and nondisjunction in mouse oocytesUrsula Eichenlaub-Ritter
University of Bielefeld, Faculty of Biology, Institute of Gene Technology Microbiology, D 33501 Bielefeld, Germany
Biol Reprod 76:784-93. 2007..Therefore, exposure to 2-ME and conditions that increase the intrinsic local concentration of 2-ME in the ovary may affect fertility and increase risks for chromosomal aberrations in the oocyte and embryo...
- subito encodes a kinesin-like protein required for meiotic spindle pole formation in Drosophila melanogasterKelly L Giunta
Waksman Institute and Department of Genetics, Rutgers University, Piscataway, New Jersey 08854, USA
Genetics 160:1489-501. 2002..sub is also required for the early embryonic divisions but is otherwise dispensable for most mitotic divisions...
- Spontaneous and spindle poison-induced micronuclei and chromosome non-disjunction in cytokinesis-blocked lymphocytes from two age groups of womenK Bakou
Division of Genetics, Cell and Developmental Biology, Department of Biology, University of Patras, 26500, Patras, Greece
Mutagenesis 17:233-9. 2002..Comparison of the estimated frequencies of micronucleation and non-disjunction for all human chromosomes showed that non-disjunction is the main type of chromosome malsegregation...
- Meiotic origin of trisomy in neoplasms: evidence in a case of erythroleukaemiaA Minelli
Biologia Generale e Genetica Medica, , Pavia, Italy
Leukemia 15:971-5. 2001..This demonstrates that a tissue-confined constitutional mosaicism for a trisomy may indeed represent the first event in multistep carcinogenesis...
- Previous aneuploidic offspring in a young woman does not increase the risk for somatic random aneuploidy in subsequent pregnanciesTal Biron-Shental
Department of Obstetrics and Gynecology, Tel Aviv University and Bar Ilan University, Israel
Acta Obstet Gynecol Scand 85:1003-7. 2006..There was no significant difference in the rate of aneuploidy of both chromosomes between the study and control groups. However, this rate was significantly higher in the aneuploid pregnancies (p < 0.05)...
- Nondisjunction rates of mouse specific chromosomes involved in heterozygous Rb rearrangements measured by chromosome painting of spermatocytes II. I. The effects of the number of trivalentsM Scascitelli
Department of Biology, University of Rome, Tor Vergata, Rome, Italy
Cytogenet Genome Res 105:57-64. 2004..The existence of such epistatic interactions was not verified...
- Female germ cell aneuploidy and embryo death in mice lacking the meiosis-specific protein SCP3Li Yuan
Center for Genomics and Bioinformatics and Department of Cell and Molecular Biology, Karolinska Institutet, SE 171 77 Stockholm, Sweden
Science 296:1115-8. 2002..SCP3 is thus linked to inherited aneuploidy in female germ cells and provides a model system for studying age-dependent degeneration in oocytes...
- Meiotic exchange and segregation in female mice heterozygous for paracentric inversionsKara E Koehler
Department of Genetics and the Center for Human Genetics, Case Western Reserve University and the University Hospitals of Cleveland, Cleveland, Ohio 44106 4955, USA
Genetics 166:1199-214. 2004..2%) than in controls (0%), although the frequency was still too low to justify the use of inversion heterozygotes as a model of human nondisjunction...
- Multi-locus (ML)-FISH is a reliable tool for nondisjunction studies in human oocytesH Eckel
Clinic for Reproductive Medicine and Gynecological Endocrinology, Magdeburg, Germany
Cytogenet Genome Res 103:47-53. 2003....
- A molecular model for sporadic human aneuploidyWilliam D Warren
Comparative Genomics Centre, James Cook University, Townsville, Qld 4811, Australia
Trends Genet 22:218-24. 2006..Consequently, the age-related risk of gametic aneuploidy in many individuals is likely to differ significantly from the population average, and single nucleotide polymorphisms (SNPs) associated with altered risk should be identifiable...
- Obligate short-arm exchange in de novo Robertsonian translocation formation influences placement of crossovers in chromosome 21 nondisjunctionSue Ann Berend
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
Am J Hum Genet 72:488-95. 2003..Additionally, we have demonstrated that events that occur in meiosis I can influence events, such as chromatid segregation in meiosis II, many decades later...
- MLH1 mutations differentially affect meiotic functions in Saccharomyces cerevisiaeEva R Hoffmann
Department of Biochemistry, University of Oxford, Oxford OX1 3Q, United Kingdom
Genetics 163:515-26. 2003..The results reveal clear separation of different Mlh1p functions in mitosis and meiosis, and they suggest that some, but not all, MLH1 mutations may be a source of human infertility...
- Chromosome segregation defects contribute to aneuploidy in normal neural progenitor cellsAmy H Yang
Biomedical Sciences, School of Medicine, University of California, San Diego, California 92093, USA
J Neurosci 23:10454-62. 2003..These data independently confirm the presence of aneuploid NPCs and demonstrate the occurrence of mitotic segregation defects in normal cells that can mechanistically account for aneuploidy in the CNS...
- Characterization of rec15, an early meiotic recombination gene in Schizosaccharomyces pombeEveline Doll
Institute of Cell Biology, University of Bern, Baltzerstrasse 4, CH 3012, Bern, Switzerland
Curr Genet 48:323-33. 2005..The early onset of meiotic events is a novel observation for an early recombination mutant and implies a function of rec15 protein already at or before DNA synthesis...
- Acrocentric cryptic translocation associated with nondisjunction of chromosome 21Sandra Ramos
Laboratorio de Citogenetica, Departamento de Investigación en Genética Humana, Instituto Nacional de Pediatria, Mexico, Mexico
Am J Med Genet A 146:97-102. 2008....
- Meiotic cohesion requires accumulation of ORD on chromosomes before condensationEric M Balicky
Department of Biological Sciences, Dartmouth College, Hanover, New Hampshire 03755 3576, USA
Mol Biol Cell 13:3890-900. 2002....
- Condensin II resolves chromosomal associations to enable anaphase I segregation in Drosophila male meiosisTom A Hartl
Department of Molecular and Cellular Biology, University of Arizona, Tucson, Arizona, United States of America
PLoS Genet 4:e1000228. 2008..Furthermore, persistence of homologous and heterologous interchromosomal associations lead to anaphase I chromatin bridging and the generation of aneuploid gametes...
- Aneugenic potential of the nitrogen mustard analogues melphalan, chlorambucil and p-N,N-bis(2-chloroethyl)aminophenylacetic acid in cell cultures in vitroM Efthimiou
Division of Genetics, Cell and Developmental Biology, Department of Biology, University of Patras, Patras 265 00, Greece
Mutat Res 617:125-37. 2007..Further studies are warranted to clarify the above two hypotheses...
- Mutations in the alpha-tubulin 67C gene specifically impair achiasmate segregation in Drosophila melanogasterH J Matthies
Department of Genetics, Section of Molecular and Cellular Biology, University of California at Davis, Davis, California 95616, USA
J Cell Biol 147:1137-44. 1999..These results suggest that the accurate segregation of achiasmate chromosomes requires the proper balancing of forces acting on the chromosomes during prometaphase...
- Recombination and disjunction in female germ cells of Drosophila depend on the germline activity of the gene sex-lethalD Bopp
Zoological Institute of the University Zürich, Winterthurerstrasse 190, CH 8057, Zurich, Switzerland
Development 126:5785-94. 1999....
- New yeast genes important for chromosome integrity and segregation identified by dosage effects on genome stabilityI I Ouspenski
Department of Cell Biology, Howard Hughes Medical Institute, Baylor College of Medicine, Houston, TX 77030, USA
Nucleic Acids Res 27:3001-8. 1999..This work shows that analysis of dosage effects is complementary to mutational analysis of chromosome transmission fidelity, as it allows the identification of chromosome stability genes that have not been detected in mutational screens...
- The mouse A/HeJ Y chromosome: another good Y gone badPatricia A Hunt
School of Molecular Biosciences, Washington State University, Pullman, WA, 99164 4660, USA
Chromosome Res 16:623-36. 2008..We conclude that these centromeric features make the human and mouse Y chromosomes extremely sensitive to minor structural alterations, and that our studies provide yet another example of a good Y chromosome gone 'bad.'..
- Comprehensive measurement of chromosomal instability in cancer cells: combination of fluorescence in situ hybridization and cytokinesis-block micronucleus assayJordi Camps
Departament de Biologia Cellular, Fisiologia i Immunologia and Institut de Biotecnologia i de Biomedicina, Universitat Autonoma de Barcelona, Bellaterra, Spain
FASEB J 19:828-30. 2005....
- Enhanced polarizing microscopy as a new tool in aneuploidy research in oocytesYing Shen
Department of Gynaecology and Obstetrics, Women s Hospital, Justus Liebig University Giessen, D 35392 Giessen, Germany
Mutat Res 651:131-40. 2008..Due to the non-invasive nature of the technique it may be employed in routine analysis of human oocytes to assess risks by lifestyle factors, and occupational and adverse environmental exposures...
- The origin of trisomy 22: evidence for acrocentric chromosome-specific patterns of nondisjunctionHeather E Hall
Center for Reproductive Biology and School of Molecular Biosciences, Washington State University, Pullman, Washington 99164 4660, USA
Am J Med Genet A 143:2249-55. 2007..Taken together with data available for other trisomies, our results suggest patterns of nondisjunction that are shared among the acrocentric, but not all nonacrocentric, chromosomes...
- Analysis of meiotic chromosome pairing in the female mouse using a novel minichromosomeC Tease
Mammalian Genetics Unit, Medical Research Council, Didcot, Oxon, UK
Chromosome Res 6:269-76. 1998..The observations here provide support for the proposition that clustering of chromosome ends in early meiosis fosters pairing interactions and synapsis...
- Loss of heterozygosity at the dilute-short ear (Myo5a-Bmp5) region of the mouse: mitotic recombination or double non-disjunction?J Favor
Institute of Mammalian Genetics, GSF National Research Center for Environment and Health, Neuherberg, Germany
Genet Res 72:199-204. 1998..Our results indicate the mutational event to be due to mitotic recombination and not double non-disjunction...
- Tam1, a telomere-associated meiotic protein, functions in chromosome synapsis and crossover interferenceP R Chua
Department of Molecular, Cellular and Developmental Biology, Yale University, New Haven, Connecticut 06520 8103, USA
Genes Dev 11:1786-800. 1997..We discuss here possibilities for how a telomere-associated protein might function in chromosome synapsis and crossover interference...
- A mutation in CSE4, an essential gene encoding a novel chromatin-associated protein in yeast, causes chromosome nondisjunction and cell cycle arrest at mitosisS Stoler
Department of Biochemistry and Molecular Biology, University of Massachusetts at Amherst 01003
Genes Dev 9:573-86. 1995....
- Aging predisposes oocytes to meiotic nondisjunction when the cohesin subunit SMC1 is reducedVijayalakshmi V Subramanian
Department of Biological Sciences, Dartmouth College, Hanover, NH, USA
PLoS Genet 4:e1000263. 2008....
- Mechanisms of nondisjunction in human spermatogenesisR H Martin
Department of Medical Genetics, University of Calgary, Alberta Children s Hospital, Calgary, Alberta, Canada
Cytogenet Genome Res 111:245-9. 2005..These men have an increased risk of aneuploidy in sperm that have been surgically removed from the testes. Thus, evidence is starting to accumulate that reduced recombination has a marked effect on the generation of aneuploid sperm...
- Specific chromosomal translocations and the genesis of B-cell-derived tumors in mice and menG Klein
Cell 32:311-5. 1983
- Nondisjunction and transmission ratio distortion ofChromosome 2 in a (2.8) Robertsonian translocation mouse strainReiner Schulz
Department of Medical and Molecular Genetics, King s College London, UK
Mamm Genome 17:239-47. 2006..Transmission ratio distortion is frequently observed in Robertsonian chromosomes and a bias against the transmission of the (2.8) Chromosome was detected. Interestingly, this was observed for female and male transmitting parents...
- [Molecular cytogenetic study of Robertsonian translocation 13;14 and Down syndrome in a 3-year-old infant]I Iu Iurov
Tsitol Genet 38:54-9. 2004..On the basis of data obtained we discuss the possible involvement of structural alterations of chromosomes 13 and 14 in the chromosome 21 non-disjunction...
- [Frequency of non-disjunction and loss of sex chromosomes in oogenesis in the Drosophila melanogaster mutant I(1) ts 403 with a defect in the heat-shock protein system in anoxia and at high temperature]L A Mamon
Genetika 28:64-71. 1992..The role of HSP in the recovery of HS-induced disruptions (chromosomal proteins and meiotic division apparatus) which can lead to chromosome non-disjunction and losses is discussed...
- Mosaicism for combined tetrasomy of chromosomes 8 and 18 in a dysmorphic child: a result of failed tetraploidy correction?Gunnar Houge
Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway
BMC Med Genet 10:42. 2009..Mosaic whole-chromosome tetrasomy has not previously been described as a cause of fetal malformations...
- Double trisomy in spontaneous miscarriages: cytogenetic and molecular approachDan Diego-Alvarez
Human Genetics, Fundacion Jimenez Diaz, Avda Reyes Catolicos 2, 28040, Madrid, Spain
Hum Reprod 21:958-66. 2006....
- Aneuploidy rate in spermatozoa of selected men with abnormal semen parametersA E Calogero
Division of Endocrinology and Master in Andrological Sciences New Methodologies in Human Reproductive Medicine, University of Catania, Italy
Hum Reprod 16:1172-9. 2001..In conclusion, patients with teratozoospermia or OAT have an increased rate of sperm aneuploidy. This increase is similar in both groups, suggesting that teratozoospermia may be the critical sperm parameter associated with aneuploidy...
- Influence of donor age on vinblastine-induced chromosome malsegregation in cultured peripheral lymphocytesPaola Leopardi
Laboratory of Comparative Toxicology and Ecotoxicology, Istituto Superiore Sanita, Viale Regina Elena 299, I 00161 Rome, Italy
Mutagenesis 17:83-8. 2002..Other factors have to be considered to account for the large interindividual variation in sensitivity to VBL challenge observed in this work...
- Chromosome malorientations after meiosis II arrest cause nondisjunctionMarie A Janicke
Department of Biological Sciences, State University of New York at Buffalo, Amherst, NY 14260, USA
Mol Biol Cell 18:1645-56. 2007..Anaphase malorientations were more frequent after longer arrests, with particularly long arrests required to induce syntely and merosyntely...
- Nondisjunction in trisomy 21: origin and mechanismsM B Petersen
Department of Genetics, Institute of Child Health, Athens, Greece
Cytogenet Cell Genet 91:199-203. 2000..Advanced maternal age remains the only well documented risk factor for maternal meiotic nondisjunction, but there is, however, still a surprising lack of understanding of the basic mechanisms behind the maternal age effect...
- Characterization of rec7, an early meiotic recombination gene in Schizosaccharomyces pombeM Molnar
Institute of Cell Biology, University of Bern, Baltzer Str 4, CH 3012 Bern, Switzerland
Genetics 157:519-32. 2001..The observed phenotypes of the disruption and the appearance of Rec7-GFP in mating haploid cells and after meiosis I are consistent with Rec7p functions before, during, and after meiotic prophase...
- Trichlorfon-induced polyploidy and nondisjunction in mouse oocytes from preantral follicle cultureFengyun Sun
Genetechnology Microbiology, Faculty of Biology, University of Bielefeld, Bielefeld, Germany
Mutat Res 651:114-24. 2008..The observations suggest that chronic TCF exposure during maturation in the follicle may predispose oocytes to the formation of chromosomally unbalanced preimplantation embryos after fertilization...
- [Changes in chromosome number, genetic instability, and occupational exposures]Gwenaelle Iarmarcovai
Laboratoire de biogénotoxicologie et mutagenèse Environnementale EA 1784, IFR PMSE112, Faculte de Medecine, Universite de la Mediterranee, 27, Bd Jean Moulin, 13005 Marseille
Bull Cancer 94:381-8. 2007..Thus, the separated analysis of MN containing a single or several centromeres could be useful, as centrosome abnormalities seem to be linked with an increase in genetic instability...
- Chromosomal non-disjunction in human oocytes: is there a mitochondrial connection?E A Schon
Department of Neurology, Columbia University, New York, NY 10032, USA
Hum Reprod 15:160-72. 2000..This hypothesis would explain many of the non-Mendelian features associated with maternal age-related trisomies, e.g. Down's syndrome...
- Fertilization in vitro increases non-disjunction during early cleavage divisions in a mouse model systemChristopher J Bean
Department of Genetics and the Center for Human Genetics, Case Western Reserve University and University Hospitals of Cleveland, Cleveland, OH 44106, USA
Hum Reprod 17:2362-7. 2002....
- Analysis of chromosome loss and chromosome segregation in cytokinesis-blocked human lymphocytes: non-disjunction is the prevalent mistake in chromosome segregation produced by low dose exposure to ionizing radiationN Touil
Free University of Brussels, Laboratory for Cell Genetics, Pleinlaan 2, B 1050 Brussels, Belgium
Mutagenesis 15:1-7. 2000..At high radiation doses the major mechanism for gamma-ray-induced aneuploidy is related to chromosome loss through non-disjunction, as has been demonstrated using X-rays, and not through the formation of micronuclei...
- Counting cross-overs: characterizing meiotic recombination in mammalsT Hassold
Department of Genetics, Case Western Reserve University, Cleveland, OH 44106, USA
Hum Mol Genet 9:2409-19. 2000....
- Chromosome 21 non-disjunction and Down syndrome birth in an Indian cohort: analysis of incidence and aetiology from family linkage dataSujoy Ghosh
Human Genetics Research Unit, School of Biotechnology and Biological Sciences, West Bengal University of Technology, Salt Lake City, Kolkata 700064, West Bengal, India
Genet Res (Camb) 92:189-97. 2010..The present study is the first population-based report on any DS cohort from the Indian subcontinent and our work will help future workers in understanding better the aetiology of this birth defect...
- [New developments in cytogenetics]Catherine Turleau
Service de Cytogénétique et Inserm U 393, Hopital Necker Enfants Malades, 149, rue de Sevres, 75743 Paris Cedex 15, France
Med Sci (Paris) 21:940-6. 2005..In addition it contributes to define the role of maternal age and genetic recombination on the behavior of chromosomes during meiosis. These new data greatly contribute to our understanding of human chromosomal diseases...
- Gonosomal mosaicism from deleted Y chromosomal nondisjunctionYing Xia Cui
Department of Reproduction and Genetics, Jinling Hospital, Clinical School of Medical College, Nanjing University, 305 East Zhongshan Road, Nanjing 210002, P R China
J Androl 28:377-80. 2007
- Maternal age and risk for trisomy 21 assessed by the origin of chromosome nondisjunction: a report from the Atlanta and National Down Syndrome ProjectsEmily Graves Allen
Department of Human Genetics, Emory University, 2165 North Decatur Rd, Decatur, Atlanta, GA 30030, USA
Hum Genet 125:41-52. 2009..6). Lastly, we found no effect of grand-maternal age on the risk for maternal nondisjunction. This study emphasizes the complex association between advanced maternal age and nondisjunction of chromosome 21 during oogenesis...
- An analysis of univalent segregation in meiotic mutants of Arabidopsis thaliana: a possible role for synaptonemal complexMónica Pradillo
Departamento de Genetica, Facultad de Biologia, Universidad Complutense de Madrid, Madrid 28040, Spain
Genetics 175:505-11. 2007..These findings suggest that in Arabidopsis there is a system, depending on the SC formation, that would facilitate regular disjunction of homologous univalents to opposite poles at anaphase I...
- When 2+2=5: the origins and fates of aneuploid and tetraploid cellsRandall W King
Department of Cell Biology, Harvard Medical School, 240 Longwood Avenue, Boston, MA 02115, USA
Biochim Biophys Acta 1786:4-14. 2008..It is therefore important to understand the different pathways that can give rise to aneuploid cells, and how the varied origins of these cells affect their subsequent ability to survive or proliferate...
- Role of the mod(mdg4) common region in homolog segregation in Drosophila male meiosisMorvarid Soltani-Bejnood
Genome Science and Technology Program, University of Tennessee and Oak Ridge National Laboratory, Knoxville, Tennessee 37996 0840, USA
Genetics 176:161-80. 2007....
- Detection of parental origin and cell stage errors of a double nondisjunction in a fetus by QF-PCRAli Irfan Guzel
Department of Medical Biology and Genetics, Faculty of Medicine, Cukurova University, Adana, Turkey
Genet Test Mol Biomarkers 13:73-7. 2009..To investigate parental origins and cell stage errors of a double nondisjunction in a fetus...
- Double fertilization in maize: the two male gametes from a pollen grain have the ability to fuse with egg cellsJean Emmanuel Faure
Ecole Normale Superieure de Lyon, Laboratory of Plant Reproduction and Development UMR 5667 CNRS INRA ENS Lyon UCB Lyon I, Lyon, France
Plant J 33:1051-62. 2003..We conclude that both male gametes have the capacity to fuse with the egg cell in maize, although sexual reproduction results in a preferential transmission of supernumerary B chromosomes...
- A study of meiotic pairing, nondisjunction and germ cell death in laboratory mice carrying Robertsonian translocationsC A Everett
Department of Zoology, University of Oxford, UK
Genet Res 67:239-47. 1996....
- Nondisjunction in human sperm: comparison of frequencies in acrocentric chromosomesR H Martin
Department of Medical Genetics, University of Calgary, Alberta Children s Hospital, Calgary, Alberta, Canada
Cytogenet Cell Genet 86:43-5. 1999..chromosomes 13 and 15; 0.15%) (P < 0.001, Mantel-Haenszel chi(2) test) and other autosomes (chromosomes 1, 2, 4, 9, 12, 13, 15, 16, 18, and 20; 0. 13%) studied in the same men (P < 0.001, Mantel-Haenszel chi(2) test)...
- Pseudo-exclusion from paternity due to maternal uniparental disomy 16G Bein
Institute of Clinical Immunology and Transfusion Medicine, Justus Liebig University, Giessen, Germany
Int J Legal Med 111:328-30. 1998..This case emphasizes that the opinion of non-paternity should be based on the absence of paternal alleles at genetic systems located on at least two different chromosomes...
- Meiotic behaviour of the sex chromosomes in three patients with sex chromosome anomalies (47,XXY, mosaic 46,XY/47,XXY and 47,XYY) assessed by fluorescence in-situ hybridizationJ Blanco
Unitat de Biologia Cellular, Universitat Autonoma de Barcelona, 08193 Bellaterra Cerdanyola del Valles, Spain
Hum Reprod 16:887-92. 2001..This suggests that the cytogenetic criteria used to define non-mosaic patients may be inadequate; thus, the risk of intracytoplasmic sperm injection in apparently non-mosaics may be lower than expected...
- Multipoint genetic mapping with trisomy dataJ Li
Department of Epidemiology and Public Health, Yale University School of Medicine, New Haven, CT 06520-8034, USA
Am J Hum Genet 69:1255-65. 2001..We illustrate the proposed approaches through their application to a set of trisomy 21 data...
- DBF8, an essential gene required for efficient chromosome segregation in Saccharomyces cerevisiaeF Houman
Department of Cellular and Developmental Biology, Harvard University, Cambridge, Massachusetts 02138
Mol Cell Biol 14:6350-60. 1994..Taken together, our data suggest that Dbf8p plays an essential role in chromosome segregation...
- Recurrent triploidy of maternal originE Pergament
Reproductive Genetics and Reproductive Endocrinology, Department of Obstetrics and Gynecology, Northwestern University Medical School, Chicago, IL, USA
Prenat Diagn 20:561-3. 2000..An error in maternal meiosis II is proposed as the most likely cause...
- Analysis of a malsegregating mouse Y chromosome: evidence that the earliest cleavage divisions of the mammalian embryo are non-disjunction-proneC J Bean
Department of Genetics and the Center for Human Genetics, Case Western Reserve University and University Hospitals of Cleveland, Cleveland OH 44106, USA
Hum Mol Genet 10:963-72. 2001....
- Sterility of Drosophila with mutations in the Bloom syndrome gene--complementation by Ku70K Kusano
Laboratory of Genetics, University of Wisconsin Madison, Madison, WI 53706, USA
Science 291:2600-2. 2001..The mutant Dmblm phenotypes were partially rescued by an extra copy of the DNA repair gene Ku70, indicating that the two genes functionally interact in vivo...
- Identifying Mechanisms for Chromosome 21 NondisjunctionTiffany Oliver; Fiscal Year: 2007..We will use a modified tetrad analysis to infer the exchange pattern from the observed recombination data. [unreadable] [unreadable] [unreadable]..
- STATISTICAL METHODS FOR NONDISJUNCTION DATAHongyu Zhao; Fiscal Year: 2001..The ultimate goals are to understand recombination and its alterations during nondisjunction, and to provide the knowledge needed to monitor and prevent chromosome abnormalities. ..
- TRANSFECTING MAMMALIAN MITOCHONDRIA WITH EXOGENOUS DNAERIC SCHON; Fiscal Year: 2005....
- Phenotype consequence of high repeat FMR1 allelesStephanie Sherman; Fiscal Year: 2002..abstract_text> ..
- MITOCHONDRIAL DNA REARRANGEMENT IN NEUROMUSCULAR DISEASEERIC SCHON; Fiscal Year: 2002..Finally, we will search for potential factors associated with the control of mtDNA copy number. ..
- GENETIC CONTROL OF MEIOTIC CHROMOSOME SEGREGATIONPatricia Hunt; Fiscal Year: 2009..The combined data from these studies will allow us to understand the control of recombination In mammals and how the events of prophase influence meiotic chromosome segregation. ..
- Chemical Genetic and Biochmechical Studies of Mitotic ProteolysisRANDALL KING; Fiscal Year: 2007..abstract_text> ..
- The Mouse Oocyte: A New Assay for Reproductive ToxinsPatricia Hunt; Fiscal Year: 2003..In addition, because the observed meiotic disruption (congression failure) is an age-related defect in human oocytes, the data may provide important insight to human age-related aneuploidy. ..
- CYTOCHROME OXIDASE ASSEMBLY GENES IN HUMAN DISEASEERIC SCHON; Fiscal Year: 2003..abstract_text> ..
- International Symposium on Genome-Wide Association StudiesHongyu Zhao; Fiscal Year: 2006..The meeting materials will be made available to the public via several channels, such as published meeting report and conference web site, to further increase the impact of this conference. [unreadable] [unreadable] [unreadable]..
- Conference on Mammalian Gametogenesis & EmbryogenesisPatricia Hunt; Fiscal Year: 2002..A particularly important aspect of the Gordon Conference setting is the blending of young and established investigators to promote exchanges that will generate new ideas and foster new collaborations in the field. ..
- Mechanism of Meiotic Pairing in DrosophilaBRUCE MCKEE; Fiscal Year: 2007..3) What is the molecular basis for homologous pairing in early prophase. 4) How are homologous pairing and conjunction related? We will use predominant genetic and cell biological methods to address these questions. ..