genetic nondisjunction

Summary

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.

Top Publications

  1. ncbi Sorting out chromosome errors
    Jon Cohen
    Science 296:2164-6. 2002
  2. ncbi Nondisjunction--a view from ringside
    Neil E Lamb
    Department of Human Genetics, Emory University, Atlanta, USA
    N Engl J Med 351:1931-4. 2004
  3. ncbi SMC1beta-deficient female mice provide evidence that cohesins are a missing link in age-related nondisjunction
    Craig A Hodges
    Department of Genetics, Case Western Reserve University, Cleveland, Ohio 44106, USA
    Nat Genet 37:1351-5. 2005
  4. ncbi The chemotherapeutic agents nocodazole and amsacrine cause meiotic delay and non-disjunction in spermatocytes of mice
    Sabry M Attia
    Department of Pharmacology and Toxicology, Faculty of Pharmacy, Al Azhar University, Nasr City, Cairo, Egypt
    Mutat Res 651:105-13. 2008
  5. pmc The genetic analysis of distributive segregation in Drosophila melanogaster. II. Further genetic analysis of the nod locus
    P Zhang
    Department of Molecular Genetics, Albert Einstein College of Medicine, Bronx, New York 10461
    Genetics 125:115-27. 1990
  6. pmc A deficiency screen of the major autosomes identifies a gene (matrimony) that is haplo-insufficient for achiasmate segregation in Drosophila oocytes
    David Harris
    Stowers Institute for Medical Research, Kansas City, Missouri 64110, USA
    Genetics 165:637-52. 2003
  7. ncbi Drosophila BubR1 is essential for meiotic sister-chromatid cohesion and maintenance of synaptonemal complex
    Nicolas 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
  8. ncbi Identification of two proteins required for conjunction and regular segregation of achiasmate homologs in Drosophila male meiosis
    Sharon E Thomas
    Department of Biochemistry, Cellular and Molecular Biology, University of Tennessee, Knoxville, Tennessee 37996, USA
    Cell 123:555-68. 2005
  9. ncbi To err (meiotically) is human: the genesis of human aneuploidy
    T Hassold
    Department of Genetics, Case Western Reserve University, 10, 900 Euclid Avenue, Cleveland, Ohio 44106, USA
    Nat Rev Genet 2:280-91. 2001
  10. ncbi Enhancement of the ncdD microtubule motor mutant by mutants of alpha Tub67C
    D J Komma
    Department of Microbiology, Duke University Medical Center, Durham, North Carolina 27710, USA
    J Cell Sci 110:229-37. 1997

Detail Information

Publications139 found, 100 shown here

  1. ncbi Sorting out chromosome errors
    Jon Cohen
    Science 296:2164-6. 2002
  2. ncbi Nondisjunction--a view from ringside
    Neil E Lamb
    Department of Human Genetics, Emory University, Atlanta, USA
    N Engl J Med 351:1931-4. 2004
  3. ncbi SMC1beta-deficient female mice provide evidence that cohesins are a missing link in age-related nondisjunction
    Craig 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...
  4. ncbi The chemotherapeutic agents nocodazole and amsacrine cause meiotic delay and non-disjunction in spermatocytes of mice
    Sabry 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...
  5. pmc The genetic analysis of distributive segregation in Drosophila melanogaster. II. Further genetic analysis of the nod locus
    P 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...
  6. pmc A deficiency screen of the major autosomes identifies a gene (matrimony) that is haplo-insufficient for achiasmate segregation in Drosophila oocytes
    David Harris
    Stowers Institute for Medical Research, Kansas City, Missouri 64110, USA
    Genetics 165:637-52. 2003
    ....
  7. ncbi Drosophila BubR1 is essential for meiotic sister-chromatid cohesion and maintenance of synaptonemal complex
    Nicolas 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...
  8. ncbi Identification of two proteins required for conjunction and regular segregation of achiasmate homologs in Drosophila male meiosis
    Sharon 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...
  9. ncbi To err (meiotically) is human: the genesis of human aneuploidy
    T 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...
  10. ncbi Enhancement of the ncdD microtubule motor mutant by mutants of alpha Tub67C
    D 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...
  11. ncbi Chiasma function
    A T Carpenter
    Department of Genetics, University of Cambridge, England
    Cell 77:957-62. 1994
  12. pmc Molecular characterization of teflon, a gene required for meiotic autosome segregation in male Drosophila melanogaster
    Gunjan 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...
  13. ncbi Chromosome nondisjunction yields tetraploid rather than aneuploid cells in human cell lines
    Qinghua 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...
  14. ncbi Requiem for distributive segregation: achiasmate segregation in Drosophila females
    R 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...
  15. pmc Association between maternal age and meiotic recombination for trisomy 21
    Neil 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...
  16. ncbi Maternal sex chromosome non-disjunction: evidence for X chromosome-specific risk factors
    N 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...
  17. ncbi A genome-wide screen identifies genes required for centromeric cohesion
    Adele 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...
  18. pmc Maintenance of sister-chromatid cohesion at the centromere by the Drosophila MEI-S332 protein
    T T Tang
    Whitehead Institute and Department of Biology, Massachusetts Institute of Technology, Cambridge, Massachusetts USA 02142, USA
    Genes Dev 12:3843-56. 1998
    ....
  19. pmc Identification of novel Drosophila meiotic genes recovered in a P-element screen
    J 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...
  20. ncbi Maternal meiosis I non-disjunction of chromosome 15: dependence of the maternal age effect on level of recombination
    W 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...
  21. ncbi Effect of meiotic recombination on the production of aneuploid gametes in humans
    N 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...
  22. ncbi Non-disjunction of chromosome 18
    M 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...
  23. pmc Patterns of meiotic recombination in human fetal oocytes
    Charles 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...
  24. ncbi Spontaneous X chromosome MI and MII nondisjunction events in Drosophila melanogaster oocytes have different recombinational histories
    K 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...
  25. ncbi Centric heterochromatin and the efficiency of achiasmate disjunction in Drosophila female meiosis
    G 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...
  26. pmc 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
    A 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...
  27. ncbi Cell biology: nondisjunction, aneuploidy and tetraploidy
    Beth 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...
  28. ncbi There are two mechanisms of achiasmate segregation in Drosophila females, one of which requires heterochromatic homology
    R 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...
  29. ncbi Methods for analyzing the spatial distribution of chiasmata during meiosis based on recombination data
    Kai 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...
  30. pmc Genetic analysis of microtubule motor proteins in Drosophila: a mutation at the ncd locus is a dominant enhancer of nod
    B 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...
  31. pmc Isolation and cytogenetic characterization of male meiotic mutants of Drosophila melanogaster
    Kazuyuki 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...
  32. pmc 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 homologs
    W 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...
  33. ncbi A model system for increased meiotic nondisjunction in older oocytes
    Charlotte A Jeffreys
    Department of Biological Sciences, Dartmouth College, 6044 Gilman, Hanover, NH 03755, USA
    Curr Biol 13:498-503. 2003
    ....
  34. pmc Molecular analysis of nondisjunction in mice heterozygous for a Robertsonian translocation
    Lara 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...
  35. ncbi Two new X-autosome Robertsonian translocations in the mouse. I. Meiotic chromosome segregation in male hemizygotes and female heterozygotes
    C Tease
    MRC Radiobiology Unit, Didcot, Oxon, U K
    Genet Res 58:115-21. 1991
    ....
  36. ncbi 2-methoxyestradiol induces spindle aberrations, chromosome congression failure, and nondisjunction in mouse oocytes
    Ursula 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...
  37. pmc subito encodes a kinesin-like protein required for meiotic spindle pole formation in Drosophila melanogaster
    Kelly 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...
  38. ncbi Spontaneous and spindle poison-induced micronuclei and chromosome non-disjunction in cytokinesis-blocked lymphocytes from two age groups of women
    K 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...
  39. ncbi Meiotic origin of trisomy in neoplasms: evidence in a case of erythroleukaemia
    A 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...
  40. ncbi Previous aneuploidic offspring in a young woman does not increase the risk for somatic random aneuploidy in subsequent pregnancies
    Tal 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)...
  41. ncbi 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 trivalents
    M 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...
  42. ncbi Female germ cell aneuploidy and embryo death in mice lacking the meiosis-specific protein SCP3
    Li 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...
  43. pmc Meiotic exchange and segregation in female mice heterozygous for paracentric inversions
    Kara 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...
  44. ncbi Multi-locus (ML)-FISH is a reliable tool for nondisjunction studies in human oocytes
    H Eckel
    Clinic for Reproductive Medicine and Gynecological Endocrinology, Magdeburg, Germany
    Cytogenet Genome Res 103:47-53. 2003
    ....
  45. ncbi A molecular model for sporadic human aneuploidy
    William 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...
  46. pmc Obligate short-arm exchange in de novo Robertsonian translocation formation influences placement of crossovers in chromosome 21 nondisjunction
    Sue 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...
  47. pmc MLH1 mutations differentially affect meiotic functions in Saccharomyces cerevisiae
    Eva 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...
  48. ncbi Chromosome segregation defects contribute to aneuploidy in normal neural progenitor cells
    Amy 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...
  49. ncbi Characterization of rec15, an early meiotic recombination gene in Schizosaccharomyces pombe
    Eveline 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...
  50. ncbi Acrocentric cryptic translocation associated with nondisjunction of chromosome 21
    Sandra 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
    ....
  51. pmc Meiotic cohesion requires accumulation of ORD on chromosomes before condensation
    Eric M Balicky
    Department of Biological Sciences, Dartmouth College, Hanover, New Hampshire 03755 3576, USA
    Mol Biol Cell 13:3890-900. 2002
    ....
  52. pmc Condensin II resolves chromosomal associations to enable anaphase I segregation in Drosophila male meiosis
    Tom 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...
  53. ncbi Aneugenic potential of the nitrogen mustard analogues melphalan, chlorambucil and p-N,N-bis(2-chloroethyl)aminophenylacetic acid in cell cultures in vitro
    M 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...
  54. pmc Mutations in the alpha-tubulin 67C gene specifically impair achiasmate segregation in Drosophila melanogaster
    H 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...
  55. ncbi Recombination and disjunction in female germ cells of Drosophila depend on the germline activity of the gene sex-lethal
    D Bopp
    Zoological Institute of the University Zürich, Winterthurerstrasse 190, CH 8057, Zurich, Switzerland
    Development 126:5785-94. 1999
    ....
  56. pmc New yeast genes important for chromosome integrity and segregation identified by dosage effects on genome stability
    I 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...
  57. ncbi The mouse A/HeJ Y chromosome: another good Y gone bad
    Patricia 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.'..
  58. ncbi Comprehensive measurement of chromosomal instability in cancer cells: combination of fluorescence in situ hybridization and cytokinesis-block micronucleus assay
    Jordi 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
    ....
  59. ncbi Enhanced polarizing microscopy as a new tool in aneuploidy research in oocytes
    Ying 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...
  60. ncbi The origin of trisomy 22: evidence for acrocentric chromosome-specific patterns of nondisjunction
    Heather 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...
  61. ncbi Analysis of meiotic chromosome pairing in the female mouse using a novel minichromosome
    C 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...
  62. ncbi 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...
  63. ncbi Tam1, a telomere-associated meiotic protein, functions in chromosome synapsis and crossover interference
    P 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...
  64. ncbi A mutation in CSE4, an essential gene encoding a novel chromatin-associated protein in yeast, causes chromosome nondisjunction and cell cycle arrest at mitosis
    S Stoler
    Department of Biochemistry and Molecular Biology, University of Massachusetts at Amherst 01003
    Genes Dev 9:573-86. 1995
    ....
  65. pmc Aging predisposes oocytes to meiotic nondisjunction when the cohesin subunit SMC1 is reduced
    Vijayalakshmi V Subramanian
    Department of Biological Sciences, Dartmouth College, Hanover, NH, USA
    PLoS Genet 4:e1000263. 2008
    ....
  66. ncbi Mechanisms of nondisjunction in human spermatogenesis
    R 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...
  67. ncbi Specific chromosomal translocations and the genesis of B-cell-derived tumors in mice and men
    G Klein
    Cell 32:311-5. 1983
  68. pmc Nondisjunction and transmission ratio distortion ofChromosome 2 in a (2.8) Robertsonian translocation mouse strain
    Reiner 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...
  69. ncbi [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...
  70. ncbi [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...
  71. pmc 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...
  72. ncbi Double trisomy in spontaneous miscarriages: cytogenetic and molecular approach
    Dan Diego-Alvarez
    Human Genetics, Fundacion Jimenez Diaz, Avda Reyes Catolicos 2, 28040, Madrid, Spain
    Hum Reprod 21:958-66. 2006
    ....
  73. ncbi Aneuploidy rate in spermatozoa of selected men with abnormal semen parameters
    A 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...
  74. ncbi Influence of donor age on vinblastine-induced chromosome malsegregation in cultured peripheral lymphocytes
    Paola 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...
  75. pmc Chromosome malorientations after meiosis II arrest cause nondisjunction
    Marie 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...
  76. ncbi Nondisjunction in trisomy 21: origin and mechanisms
    M 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...
  77. pmc Characterization of rec7, an early meiotic recombination gene in Schizosaccharomyces pombe
    M 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...
  78. ncbi Trichlorfon-induced polyploidy and nondisjunction in mouse oocytes from preantral follicle culture
    Fengyun 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...
  79. ncbi [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...
  80. ncbi 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...
  81. ncbi Fertilization in vitro increases non-disjunction during early cleavage divisions in a mouse model system
    Christopher 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
    ....
  82. ncbi 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 radiation
    N 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...
  83. ncbi Counting cross-overs: characterizing meiotic recombination in mammals
    T Hassold
    Department of Genetics, Case Western Reserve University, Cleveland, OH 44106, USA
    Hum Mol Genet 9:2409-19. 2000
    ....
  84. ncbi Chromosome 21 non-disjunction and Down syndrome birth in an Indian cohort: analysis of incidence and aetiology from family linkage data
    Sujoy 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...
  85. ncbi [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...
  86. ncbi Gonosomal mosaicism from deleted Y chromosomal nondisjunction
    Ying 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
  87. pmc Maternal age and risk for trisomy 21 assessed by the origin of chromosome nondisjunction: a report from the Atlanta and National Down Syndrome Projects
    Emily 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...
  88. pmc An analysis of univalent segregation in meiotic mutants of Arabidopsis thaliana: a possible role for synaptonemal complex
    Mónica 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...
  89. pmc When 2+2=5: the origins and fates of aneuploid and tetraploid cells
    Randall 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...
  90. pmc Role of the mod(mdg4) common region in homolog segregation in Drosophila male meiosis
    Morvarid 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
    ....
  91. ncbi Detection of parental origin and cell stage errors of a double nondisjunction in a fetus by QF-PCR
    Ali 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...
  92. ncbi Double fertilization in maize: the two male gametes from a pollen grain have the ability to fuse with egg cells
    Jean 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...
  93. ncbi A study of meiotic pairing, nondisjunction and germ cell death in laboratory mice carrying Robertsonian translocations
    C A Everett
    Department of Zoology, University of Oxford, UK
    Genet Res 67:239-47. 1996
    ....
  94. ncbi Nondisjunction in human sperm: comparison of frequencies in acrocentric chromosomes
    R 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)...
  95. ncbi Pseudo-exclusion from paternity due to maternal uniparental disomy 16
    G 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...
  96. ncbi 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 hybridization
    J 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...
  97. pmc Multipoint genetic mapping with trisomy data
    J 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...
  98. pmc DBF8, an essential gene required for efficient chromosome segregation in Saccharomyces cerevisiae
    F 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...
  99. ncbi Recurrent triploidy of maternal origin
    E 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...
  100. ncbi Analysis of a malsegregating mouse Y chromosome: evidence that the earliest cleavage divisions of the mammalian embryo are non-disjunction-prone
    C 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
    ....
  101. ncbi Sterility of Drosophila with mutations in the Bloom syndrome gene--complementation by Ku70
    K 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...

Research Grants12

  1. Identifying Mechanisms for Chromosome 21 Nondisjunction
    Tiffany Oliver; Fiscal Year: 2007
    ..We will use a modified tetrad analysis to infer the exchange pattern from the observed recombination data. [unreadable] [unreadable] [unreadable]..
  2. STATISTICAL METHODS FOR NONDISJUNCTION DATA
    Hongyu 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. ..
  3. TRANSFECTING MAMMALIAN MITOCHONDRIA WITH EXOGENOUS DNA
    ERIC SCHON; Fiscal Year: 2005
    ....
  4. Phenotype consequence of high repeat FMR1 alleles
    Stephanie Sherman; Fiscal Year: 2002
    ..abstract_text> ..
  5. MITOCHONDRIAL DNA REARRANGEMENT IN NEUROMUSCULAR DISEASE
    ERIC SCHON; Fiscal Year: 2002
    ..Finally, we will search for potential factors associated with the control of mtDNA copy number. ..
  6. GENETIC CONTROL OF MEIOTIC CHROMOSOME SEGREGATION
    Patricia 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. ..
  7. Chemical Genetic and Biochmechical Studies of Mitotic Proteolysis
    RANDALL KING; Fiscal Year: 2007
    ..abstract_text> ..
  8. The Mouse Oocyte: A New Assay for Reproductive Toxins
    Patricia 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. ..
  9. CYTOCHROME OXIDASE ASSEMBLY GENES IN HUMAN DISEASE
    ERIC SCHON; Fiscal Year: 2003
    ..abstract_text> ..
  10. International Symposium on Genome-Wide Association Studies
    Hongyu 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]..
  11. Conference on Mammalian Gametogenesis & Embryogenesis
    Patricia 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. ..
  12. Mechanism of Meiotic Pairing in Drosophila
    BRUCE 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. ..