• Chromosomal instability (CIN) is a type of genomic instability in which chromosomes are unstable, such that either whole chromosomes or parts of chromosomes are duplicated or deleted. (wikipedia.org)
  • As chromosome instability refers to the rate that chromosomes or large portions of chromosomes are changed, there should be comparisons between cells, or cell populations rather than looking at cells individually in order to determine chromosome instability. (wikipedia.org)
  • A chromosomal instability assay should measure not only whole chromosome change rates, but also the partial chromosomal changes such as deletions, insertions, inversion and amplifications to also take into account segmental aneuploidies. (wikipedia.org)
  • This provides a more accurate determination of the presence of chromosome instability. (wikipedia.org)
  • This is because the fitness cost (survival to next generation) of chromosomal instability is lower in polyploid cells, as the cell has a greater number of chromosomes to make up for the chromosomal instability it experiences. (wikipedia.org)
  • Aneuploidy is associated with genomic instability and may underlie the tumor-promoting properties of PGF 2α . (arizona.edu)
  • In more recent years, findings of persistent postirradiation genomic instability, bystander effects, and other types of cellular response have posed additional questions regarding the mechanisms underlying the cytogenetic and mutagenic effects of radiation and their potential to contribute to radiation tumorigenesis. (nationalacademies.org)
  • We postulate that the differential requirement of Plk1 activity for the DNA and centrosome cycles explains how mild replication stress disrupts the synchrony between both processes and contributes to genomic instability. (bvsalud.org)
  • Immunofluorescence, chromosome and micronuclei enumeration, MTT and colony formation assays were used to determine the effects of AP4 inactivation and target gene regulation on chromosomal instability (CIN) and drug sensitivity. (biomedcentral.com)
  • Furthermore, we find a high rate of JMJD1B mutations in cancer patients, and a correlation with genomic instability. (biomedcentral.com)
  • The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease described in about 50 patients worldwide and characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9. (biomedcentral.com)
  • Note that the instability is not in the centromere itself, but rather in the region adjacent to the centromere (qh), predominantly in chromosomes 1 and 16. (biomedcentral.com)
  • Normal cells make errors in chromosome segregation in 1% of cell divisions, whereas cells with CIN make these errors approximately 20% of cell divisions. (wikipedia.org)
  • The maintenance of a single centromere per chromosome is critical for establishing bipolar microtubule attachments to the mitotic spindle and achieving high-fidelity genome segregation 17 . (nature.com)
  • An increased tendency to acquire CHROMOSOME ABERRATIONS when various processes involved in chromosome replication, repair, or segregation are dysfunctional. (lookformedical.com)
  • We herein report that oocyte-specific Uhrf1 KO results in impaired chromosome segregation, abnormal cleavage division, and preimplantation lethality of derived embryos. (life-science-alliance.org)
  • In addition, multipolar spindles and misaligned chromosomes were observed in a significant proportion of cells treated with PGF 2α . (arizona.edu)
  • We recently demonstrated that mild DNA replication stress typically seen in cancer cells causes premature centriole disengagement in untransformed mitotic human cells, leading to transient multipolar spindles that favour chromosome missegregation. (bvsalud.org)
  • The unequal distribution of DNA to daughter cells upon mitosis results in a failure to maintain euploidy (the correct number of chromosomes) leading to aneuploidy (incorrect number of chromosomes). (wikipedia.org)
  • As each chromosome contains a single centromere, it remains unclear how acentric fragments derived from shattered chromosomes are inherited between daughter cells during mitosis 6 . (nature.com)
  • Here we tracked micronucleated chromosomes with live-cell imaging and show that acentric fragments cluster in close spatial proximity throughout mitosis for asymmetric inheritance by a single daughter cell. (nature.com)
  • Here we show that pulverized chromosomes from micronuclei spatially cluster throughout mitosis and identify the CIP2A-TOPBP1 complex as an essential regulator of this process. (nature.com)
  • The reason non-reciprocal translocations are dangerous is the possibility of producing a dicentric chromosome - a chromosome with two centromeres. (wikipedia.org)
  • When dicentric chromosomes form, a series of events can occur called a breakage-fusion-bridge cycle: Spindle fibers attach onto both centromeres in different locations on the chromosome, thereby tearing the chromatid into two pieces during anaphase. (wikipedia.org)
  • Recent studies have revealed that variants of histone H2A and histone H3 play important roles not only in gene expression but also in the repair of DNA breaks and the assembly of chromosome centromeres. (sdbonline.org)
  • Structural CIN is different in that rather than whole chromosomes, fragments of chromosomes may be duplicated or deleted. (wikipedia.org)
  • Mitotic clustering facilitates the reassembly of acentric fragments into rearranged chromosomes lacking the extensive DNA copy-number losses that are characteristic of canonical chromothripsis. (nature.com)
  • The stochastic inheritance of chromosome fragments by both newly formed daughter cells could in part contribute to the alternating DNA copy-number states that are characteristic of chromothripsis 2 . (nature.com)
  • However, most fragments derived from pulverized chromosomes are acentric and cannot directly bind to spindle microtubules 14 . (nature.com)
  • The chromosomal constitution of cells which deviate from the normal by the addition or subtraction of CHROMOSOMES, chromosome pairs, or chromosome fragments. (lookformedical.com)
  • The rearrangement of parts of chromosomes (translocations) and amplifications or deletions within a chromosome may also occur in structural CIN. (wikipedia.org)
  • Much of this DNA hypomethylation is in 1qh, 9qh, and 16qh, regions that are the site of whole-arm deletions, chromatid and chromosome breaks, stretching (decondensation), and multiradial chromosome junctions in mitogen-stimulated lymphocytes. (biomedcentral.com)
  • ICF (OMIM #24242860) is a rare autosomal recessive disease that involves agammaglobulinemia or hypoglobulinemia with B cells as well as DNA rearrangements targeted to the centromere-adjacent heterochromatic region (qh) of chromosomes 1 and/or 16 (and sometimes 9) in mitogen-stimulated lymphocytes. (biomedcentral.com)
  • Mechanistically, the CIP2A-TOPBP1 complex prematurely associates with DNA lesions within ruptured micronuclei during interphase, which poises pulverized chromosomes for clustering upon mitotic entry. (nature.com)
  • In a normally diploid cell (DIPLOIDY) the loss of a chromosome pair is termed nullisomy (symbol: 2N-2), the loss of a single chromosome is MONOSOMY (symbol: 2N-1), the addition of a chromosome pair is tetrasomy (symbol: 2N+2), the addition of a single chromosome is TRISOMY (symbol: 2N+1). (lookformedical.com)
  • A loss in the repair systems for DNA double-stranded breaks and eroded telomeres can allow chromosomal rearrangements that generate loss, amplification and/or exchange of chromosome segments. (wikipedia.org)
  • Sequencing of daughter cell pairs derived from micronucleated mother cells demonstrated that complex rearrangements are indeed a common outcome of micronucleus formation. (nature.com)
  • These studies implicate a potential mechanism suppressing the loss of genetic material after chromosome pulverization, although how distinct patterns of rearrangements arise in cancer and germline disorders remains unclear. (nature.com)
  • The frequency of these rearrangements is high enough to be detected upon routine cytogenetic examination of metaphase chromosomes. (biomedcentral.com)
  • A terminal section of a chromosome which has a specialized structure and which is involved in chromosomal replication and stability. (lookformedical.com)
  • Swr1 is required for the deposition of histone H2AZ at specific chromosome locations in vivo, and Swr1 and H2AZ commonly regulate a subset of yeast genes. (sdbonline.org)
  • In other words, the daughter cells do not have the same number of chromosomes as the cell they originated from. (wikipedia.org)
  • A type of CELL NUCLEUS division by means of which the two daughter nuclei normally receive identical complements of the number of CHROMOSOMES of the somatic cells of the species. (lookformedical.com)
  • Inhibition of miR-22-3p or ectopic MDC1 expression reversed the increased senescence, DNA damage, CIN and defective HR observed in AP4 -deficient CRC cells. (biomedcentral.com)
  • For instance, defective lipid trafficking in the lack of NPC1 network marketing leads towards the lysosomal storage space disorder Niemann-Pick disease (Platt et al. (cancercurehere.com)
  • If repair enzymes do not catch this recombination event, the cell may contain non-reciprocal translocation where parts of non-homologous chromosomes are joined together. (wikipedia.org)
  • More specifically, CIN refers to the increase in rate of addition or loss of entire chromosomes or sections of them. (wikipedia.org)
  • Therefore, the cell can replicate or segregate incorrect chromosomes. (wikipedia.org)
  • Expression of dominant negative Rho attenuated the cell cycle delay and prevented the generation of micronuclei following treatment with PGF 2α . (arizona.edu)
  • Since human chromosomes contain repetitive DNA sections, broken DNA segments from one chromosome can combine with similar sequences on a non-homologous chromosome. (wikipedia.org)
  • An increased tendency to acquire CHROMOSOME ABERRATIONS when various processes involved in chromosome replication, repair, or segregation are dysfunctional. (bvsalud.org)
  • More specifically, CIN refers to the increase in rate of addition or loss of entire chromosomes or sections of them. (wikipedia.org)
  • Chromosome structural variation, a vital kind of somatic mutation, is involved in the process of genomic rearrangement ranging from genes to entire chromosomes, and also affects gene expression regulation. (biomedcentral.com)
  • When dicentric chromosomes form, a series of events can occur called a breakage-fusion-bridge cycle: Spindle fibers attach onto both centromeres in different locations on the chromosome, thereby tearing the chromatid into two pieces during anaphase. (wikipedia.org)
  • 2011 . Unrepaired clustered DNA lesions induce chromosome breakage in human cells. (nih.gov)
  • this sensitivity correlates with the accumulation of chromatid-type chromosome breakage and radial structure formation. (europa.eu)
  • MAIZE GENETICS Barpara McCrintock CONTINUATION OF THE STUDY OF THE Invuction oF New Mutants IN CHROMOSOME 9 The study of the induction of new mutants in the short arm of chromosome g, following the chromatid and chromo- some breakage cycles involving this arm, is nearing completion. (nih.gov)
  • Three hundred and eighty- three plants that showed the chromosome type of breakage cycle in their early devel- opmental stages were self-pollinated and the kernels and seedling progeny observed, Thirty-two newly arising stable (nonvarie- gating, see below) recessive mutants were observed. (nih.gov)
  • The breakpoints are located within one chromosome or chromosome arm. (nih.gov)
  • 9. Chromosome nondisjunction yields tetraploid rather than aneuploid cells in human cell lines. (nih.gov)
  • The rearrangement of parts of chromosomes (translocations) and amplifications or deletions within a chromosome may also occur in structural CIN. (wikipedia.org)
  • Widespread chromosomal genomic rearrangement and point mutations are underlying hallmarks of the cancer genome. (biomedcentral.com)
  • A loss in the repair systems for DNA double-stranded breaks and eroded telomeres can allow chromosomal rearrangements that generate loss, amplification and/or exchange of chromosome segments. (wikipedia.org)
  • Micronuclei obtained from peripheral blood lymphocytes by microdissection were subjected to random amplification of polymorphic DNA (RAPD-PCR), and a unique PCR product was then used to isolate a cosmid clone from a human genomic library. (nih.gov)
  • The Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium of the International Cancer Genome Consortium (ICGC) and The Cancer Genome Atlas (TCGA) collaborated to analyze structural variants, genomic breakpoint cluster regions, and gene expression based on whole-genome sequencing data from 2658 cancers patients across 38 tumor types [ 3 , 4 ]. (biomedcentral.com)
  • This study analyzed the effects of potentially toxic concentrations of glyphosate on germination, growth, cell cycle and genomic stability of Lactuca sativa L., and identified the most sensitive variables for assessing the toxicity of this herbicide to this biomonitor. (bvsalud.org)
  • This was because the spotted-leaf character appeared in the appropriate chromosomal class in Fi plants following the cross of a spotted-leaf plant to a female plant hetero- zygous for a relatively long but trans- 177 missible terminal deficiency of the short arm of chromosome 9. (nih.gov)
  • A case of elevated spontaneous micronucleus frequency derived from chromosome 2. (nih.gov)
  • This work tested the hypothesis that the content of spontaneous micronuclei in lymphocytes in an apparently healthy normal human subject, who exhibited an unusually high micronucleus frequency, was non-random. (nih.gov)
  • The chromosomal anomaly index and frequency of micronuclei increased by 3.2 and 22 times, respectively, with the presence of the lowest concentration of glyphosate compared to the negative control. (bvsalud.org)
  • Structural CIN is different in that rather than whole chromosomes, fragments of chromosomes may be duplicated or deleted. (wikipedia.org)
  • With the rapid development of next-generation sequencing technology, chromosome structural variation has gradually gained increased clinical significance in tumorigenesis. (biomedcentral.com)
  • Although the patterns of structural variants are different, their formation is commonly involved in the occurrence of DNA double-strand breaks (DSB) and improper repair or rejoining of broken chromosomes [ 10 ]. (biomedcentral.com)
  • In the majority of the parent plants, only one of the two chromosomes g could be thoroughly tested for the presence of a new mutant, because of the frequent lack of transmission through the pollen of one of the altered chromosomes 9. (nih.gov)
  • One of the four new mutants not located in chromosome 9 showed an interesting relation to the mutant c, which is located in the short arm of chromosome 9. (nih.gov)
  • MopiricaTion oF Mutant Expression FotLtowinc CuroMosoMAL TRANSLOCATION The recessive mutant "spotted-leaf" (spl), in early investigations, gave evi- dence indicating that it was a recessive located in the short arm of chromosome 9. (nih.gov)
  • Further study of this particular mutant revealed that its inheritance is not typical of a simple reces- sive and that its locus cannot be placed in the short arm of chromosome g in the usual manner. (nih.gov)
  • A versatile system to introduce clusters of genomic double-strand breaks in large cell populations. (dkfz.de)
  • Only in one branch of this study was an attempt made to determine the proportion of all newly arising seed- ling or kernel mutants that are located in chromosome g. (nih.gov)
  • 17. Mechanism of cytokinesis failure in ovarian cystadenomas with defective BRCA1 and P53 pathways. (nih.gov)