AnatomyDiseasesChemicals and DrugsAnalytical, Diagnostic and Therapeutic Techniques and EquipmentPhenomena and ProcessesDisciplines and OccupationsHealth Care
AneuploidyChromosomal InstabilityGenomic InstabilityJoint InstabilityMicrosatellite InstabilityIn Situ Hybridization, FluorescenceChromosome AberrationsKaryotypingChromosome SegregationPreimplantation DiagnosisPloidiesTrisomyChromosome DisordersDiploidyPolyploidyMosaicismChromosomes, Human, Pair 18Microsatellite RepeatsChromosomes, HumanCentrosomeMitosisAbnormal KaryotypeDNA, NeoplasmNondisjunction, GeneticSpermatozoaMeiosisSpindle ApparatusMad2 ProteinsAneugensChromosomesMutationPolar BodiesChromosomes, Human, XKaryotypeDown SyndromeChromosomes, Human, Pair 13MetaphasePregnancyCytogenetic AnalysisSex ChromosomesChromosomes, Human, YAurora KinasesMaternal AgeCell Cycle ProteinsInfertility, MaleCell Transformation, NeoplasticChromosomes, Human, Pair 21DNA DamagePrenatal DiagnosisSpectral KaryotypingLoss of HeterozygosityDNA RepairXYY KaryotypeSex Chromosome AberrationsAurora Kinase AKlinefelter SyndromeY ChromosomeNeoplasmsCytogeneticsPhenotypeM Phase Cell Cycle CheckpointsProtein-Serine-Threonine KinasesNuclear ProteinsPrimed In Situ LabelingMutS Homolog 2 ProteinMicronuclei, Chromosome-DefectiveKinetochoresComparative Genomic HybridizationOligospermiaGene DosageColorectal NeoplasmsTumor Suppressor Protein p53ChromatidsCentromereMaternal Serum Screening TestsSperm Injections, IntracytoplasmicGenetic TestingOocytesFlow CytometryChromosome BreakageTranslocation, GeneticDNA Sequence, UnstableUltrasonography, PrenatalChromosomes, Human, Pair 17Cell CycleDNA, SatellitePregnancy Trimester, FirstTelomereAbortion, SpontaneousDNADemecolcineMicronucleus TestsCytokinesisFetal DiseasesX ChromosomeHaploidyAmniocentesisDNA-Binding ProteinsBase Pair MismatchTrinucleotide Repeats
GenomicChromosomesMutationsGenomeTumorsInduces aneuploidyCytogeneticTumorCellularInductionTelomere dysfunctionGeneticAlterationsHeterogeneousPathwaysMammalianCellsSaccharomycesMitosis2023GenesHallmarkAssaySpindleAbnormalPhenotypeCancersArisesAnalysesMolecularSignificantlyDeterminationCell biologyLossesPresent
Genomic23
  • 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)
  • These data demonstrate that NT/ICM on nuclear monolayers is a very promising single platform test of genomic instability, which may aid pathologists in the diagnosis of dysplasia and has potential as a biomarker in BO. (nature.com)
  • Genomic instability seems to be a fundamental property of neoplastic progression that develops before the onset of cancer, and a large body of evidence now suggests that most oesophageal adenocarcinomas arise in association with a process of gain or loss of whole chromosomes or large portions of chromosomes ( Reid et al, 2010 ). (nature.com)
  • Abnormalities in DNA ploidy are a consequence of genomic instability that has been shown to predict future cancer risk in non-dysplastic BO when measured by flow cytometry, with a relative risk of 5.0 for aneuploidy ( Reid et al, 2000b ). (nature.com)
  • Sequence analysis of Wnt-independent organoids reveals an enhanced mutational burden, including chromosomal aberrations typical of genomic instability. (uni-muenchen.de)
  • Uneven distribution of sister chromatids in mitosis or failure to repair DNA breaks results in aneuploidy or chromosome translocations, which are two prevalent forms of genomic instability in cancer cells. (packard.org)
  • Aneuploidy, an unbalanced karyotype in which one or more chromosomes are present in excess or reduced copy number, causes an array of known phenotypes including proteotoxicity, genomic instability, and slowed proliferation. (yeastgenome.org)
  • The genomic instability index (GI index) was 6.7 - 72.7% higher in cancers than normal thyroid tissues. (birmingham.ac.uk)
  • Genomic instability caused by mutation of the checkpoint molecule TP53 may endow cancer cells with the ability to undergo genomic evolution to survive stress and treatment. (biomedcentral.com)
  • We attempted to gain insight into the potential contribution of ovarian cancer genomic instability resulted from TP53 mutation to the aberrant expression of multidrug resistance gene MDR1 . (biomedcentral.com)
  • TP53 mutation-associated genomic instability may promote chromosome 7 accumulation and MDR1 amplification during ovarian cancer chemoresistance and recurrence. (biomedcentral.com)
  • Thus, somatic mutations, and the consequent genomic instability may be an important driving force for the development of chemoresistance in malignant tumors. (biomedcentral.com)
  • Genomic instability is defined as an increased rate of DNA alterations [ 8 ]. (biomedcentral.com)
  • Genomic instability is a cancer hallmark and is connected to changes in chromosomal structure, often caused by double strand break formation (DSB), and aneuploidy. (oncotarget.com)
  • Cellular stress, may contribute to genomic instability. (oncotarget.com)
  • In colorectal biopsies and peripheral blood lymphocytes of patients with IBD, polyps and CRC, we evaluated 1) genomic instability using the γH2AX assay as marker of DSB and micronuclei in mononuclear lymphocytes kept under cytodieresis inhibition, and 2) cellular stress through expression and cellular localization of glutathione-S-transferase omega 1 (GSTO1). (oncotarget.com)
  • Micronuclei frequency began to rise in lymphocytes of subjects with polyps, suggesting a systemic genomic instability condition. (oncotarget.com)
  • We propose that the growing genomic instability found in our patients is connected with the alteration of cellular environment. (oncotarget.com)
  • Moreover, chromosomal instability was detected, both in binucleated and mononucleated cells, coupled with a minor inhibition of cell proliferation, whereas genomic instability was not revealed. (bvsalud.org)
  • CONCLUSIONS: MEHP should be considered more harmful than its parent compound DEHP, because it induces genomic instability in the DLEC cell line without triggering cell death. (bvsalud.org)
  • Since genomic instability was accompanied by increased generation of the lipid peroxidation marker malondialdehyde, oxidative stress might play an important role in phthalate-induced genotoxicity. (bvsalud.org)
  • Perturbation in the replication-stress response (RSR) and DNA-damage response (DDR) causes genomic instability. (us.es)
  • They also discuss how these proteins and pathways are strictly regulated to avoid genomic instability, which can lead to diseases such as cancer, and how they are coordinated with other nuclear processes (e.g., transcription and DNA replication). (cshlpress.com)
Chromosomes10
  • 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 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)
  • 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 defined as the loss and/or gain of chromosomes to produce a numerical deviation from multiples of the haploid chromosomal complement ( King and Stansfield, 1990 ). (jneurosci.org)
  • Aneuploidy is known to confer cellular biology effects both dependent and independent of the particular chromosomes altered. (techscience.com)
  • Because 85 percent of human cancer cells possess an abnormal number of chromosomes, researchers have long been curious about the role of aneuploidy in the multistep cancer process. (scienceblog.com)
  • We performed high-throughput screens for genes the deletion of which has a synthetic fitness cost in aneuploidy Saccharomyces cerevisiae cells containing single extra chromosomes. (yeastgenome.org)
  • Our comparison between the newly described normal, i.e., diploid, karyotype of the species (2n = 40) and aneutetraploid plates (4n = 77-80) revealed that translocations of NOR-bearing chromosomes are involved in generating aneuploidy. (salamandra-journal.com)
  • Gains and losses of whole chromosomes, termed aneuploidy , is seen in at least half of all tumors. (lu.se)
  • We study how aneuploidy affects the transcriptome and proteome as well as the role of chromatin architecture in in the context of aneuploidy, using NGS-based methods as well as cytogenetic analyses of chromosomes. (lu.se)
Mutations2
  • We therefore suggest that energy loss (e.g., through impaired mitochondria) or disturbance of information (e.g., through mutations or aneuploidy) or changes in the composition or distribution of matter (e.g., through micro-environmental changes or toxic agents) can irreversibly disturb molecular mechanisms, leading to increased local entropy of cellular functions and structures. (frontiersin.org)
  • The contributors review efforts to characterize the subclonal architecture and dynamics of tumors, understand the roles of chromosomal instability, driver mutations, and mutation order, and determine how cancer cells respond to selective pressures imposed by anticancer agents, immune cells, and other components of the tumor microenvironment. (cshlpress.com)
Genome6
  • Single cell whole genome sequencing of 2847 cells from nine primary cases and one normal bone marrow reveals that HeH ALL generally display low chromosomal heterogeneity, indicating that they are not characterized by chromosomal instability and showing that aneuploidy-driven malignancies are not necessarily chromosomally heterogeneous. (lu.se)
  • It is a form of genome instability associated with defects in DNA MISMATCH REPAIR. (lookformedical.com)
  • Our results demonstrate that these anomalous karyotypes correspond to a proliferative cell disorder characterized by a succession of distinct structural events, from a preliminary duplication of the whole genome to the instability of loci of NORs and subsequent chromosome rearrangements that will produce aneuploid cells. (salamandra-journal.com)
  • Our data suggest that the duplication of the whole genome can be considered a preliminary stage in proliferative cell disorders, inducing chromosomal instability and structural rearrangements. (salamandra-journal.com)
  • Genome instability is a feature of cancer cells, transcription being an important source of DNA damage. (us.es)
  • Unscheduled R loops can be a source of genome instability, a hallmark of cancer cells. (us.es)
Tumors2
Induces aneuploidy2
Cytogenetic1
  • Cytogenetic studies have demonstrated the importance of aneuploidy in differentiated thyroid cancer development. (birmingham.ac.uk)
Tumor2
Cellular1
  • Thus, we were able to use this screen to identify novel cellular consequences of aneuploidy, dependent on both specific chromosome imbalances and caused by many different aneuploid karyotypes. (yeastgenome.org)
Induction2
  • Thus, these findings provide the first evidence that PSMA has a causal role in the induction of aneuploidy and might play an etiologic role in the progression of prostate cancer. (nih.gov)
  • Thus, inactive p53 is not associated with a susceptible cytotoxicity of Polo-like kinase 1 inhibition and could rather foster the induction of polyploidy/aneuploidy in surviving cells. (oncotarget.com)
Telomere dysfunction1
  • We are specifically interested to measure telomere dysfunction and aneuploidy in stem cells and more differentiated cells, to identify genetic and other factors regulating human leukocyte telomere length and to study the role of telomere attrition in various leukocytes in relation to normal human ageing and pathology. (umcg.nl)
Genetic9
  • Chromosomal instability is the most common form of genetic instability and cause of aneuploidy. (wikipedia.org)
  • Our group investigates the fundamental mechanisms of cell division ensuring faithful chromosome segregation in human cells, how a deregulation of these mechanisms contribute to genetic instability in cancer cells, and how this erroneous process can reveal new targets for anti-cancer treatments or be exploited by novel anti-cancer drugs. (unige.ch)
  • Cancer reflects the progressive accumulation of genetic alterations and subsequent genetic instability of cells. (birmingham.ac.uk)
  • Using fluorescent intersimple sequence repeat PCR (FISSR-PCR), we investigated the relationship between PTTG expression and the degree of genetic instability in normal and tumorous thyroid samples. (birmingham.ac.uk)
  • Follicular thyroid tumours exhibited greater genetic instability than papillary tumours (27.6% (n =9) versus 14.5% (n = 10), P = 0.03). (birmingham.ac.uk)
  • We also demonstrated a strong relationship between PTTG expression and the degree of genetic instability in thyroid cancers (R-2 = 0.80, P = 0.007). (birmingham.ac.uk)
  • To further investigate PTTG's role in genetic instability, we transfected FTC133 thyroid follicular cells and observed increased genetic instability in cells overexpressing PTTG compared with vector-only-transfected controls (n = 3, GI Index VO = 29.7 +/- 5.2 versus PTTG = 63.7 +/- 6.4, P = 0.013). (birmingham.ac.uk)
  • Further, we observed a dose response in genetic instability and PTTG expression ( GI Index low dose (0.5 mu g DNA/ six-well plate) PTTG = 15.3% +/- 1.7 versus high dose (3 mu g DNA) PTTG = 50.8% +/- 3.3, P = 0.006). (birmingham.ac.uk)
  • Overall, we describe the first use of FISSR-PCR in human cancers, and demonstrate that PTTG expression correlates with genetic instability in vivo, and induces genetic instability in vitro. (birmingham.ac.uk)
Alterations4
  • Whereas over 900 tools are available to analyze scRNA-seq data (as monitored on https://www.scrna-tools.org/), only a handful output aneuploidy data or its sub-chromosomal equivalent copy number alterations (CNAs). (techscience.com)
  • We propose larger chromosomal alterations and aneuploidy as the basis of transformation in these organoids, consistent with the early appearance of chromosomal instability in CRC. (uni-muenchen.de)
  • Chromosome instability (CIN) is an increased rate where chromosome acquire alterations due to errors in cell division. (encyclopedia.pub)
  • Chromosomal instability (CIN) is the increasing rate in which cells acquire new chromosomal alterations. (encyclopedia.pub)
Heterogeneous1
  • While one might predict that simply mapping read counts per chromosome readily identifies aneuploidy, the reality is that the data are too heterogeneous to quickly determine aneuploidy by eye. (techscience.com)
Pathways1
  • We use large-scale sequencing and array-based analyses of bulk and single cells as well as experimental systems to understand whether aneuploidy is always associated with chromosomal instability (CIN) and to delineate the pathways by which aneuploidy arise. (lu.se)
Mammalian1
Cells3
  • Toward determining the presence of constitutional aneuploidy in the human brain, we report here an analysis of the frequency of chromosome 21 gain and loss among neurons and non-neuronal cells isolated from the cerebral cortex and hippocampus of normal individuals ranging from 2 to 86 years of age. (jneurosci.org)
  • One biologically relevant variable is readily inferred from scRNA-seq gene count tables regardless of individual gene representation within single cells: aneuploidy. (techscience.com)
  • Chromosomal instability and aneuploidy are not only symptoms of cancer cells, they can directly cause or enhance cancer formation, as they create dosage imbalances between oncogenes and tumour suppressors, and contribute to the development of cancer drug resistances. (unige.ch)
Saccharomyces1
Mitosis1
  • This shows that the aneuploidy in HeH ALL likely arises by an initial tripolar mitosis in a diploid cell followed by clonal evolution, in line with a punctuated evolution model. (lu.se)
20231
  • Chromosomal Instability in AML" Encyclopedia , https://encyclopedia.pub/entry/10865 (accessed December 01, 2023). (encyclopedia.pub)
Genes2
  • Since hundreds of genes are present on chromosome arms, high-quality inferences of aneuploidy can be made from scRNA-seq datasets. (techscience.com)
  • This analysis identified genes that, when deleted, decrease the fitness of specific disomic strains as well as those that impair the proliferation of a broad range of aneuploidies. (yeastgenome.org)
Hallmark1
  • This viewpoint summarizes how utilization of these bioinformatic pipelines can benefit scRNA-seq studies, particularly in oncology wherein aneuploidy is both rampant and a hallmark of the studied disease. (techscience.com)
Assay1
  • 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)
Spindle1
Abnormal1
  • High hyperdiploid acute lymphoblastic leukemia (HeH ALL), one of the most common childhood malignancies, is driven by nonrandom aneuploidy (abnormal chromosome numbers) mainly comprising chromosomal gains. (lu.se)
Phenotype2
Cancers1
  • Our group's studies will provide a better molecular understanding of chromosome instability in human cancers and may ultimately lead to new strategies to treat them. (packard.org)
Arises1
Analyses2
  • Aneuploidy, the loss or gain of chromosome arms, appears less prevalent in normal tissue in these clonal mutant next-generation sequencing analyses. (techscience.com)
  • Given that aneuploidy is (a) known to contribute to cell biology and (b) is present at some detectable level in many cell types, it is valuable for single-cell sequencing studies to include aneuploidy information in their analyses. (techscience.com)
Molecular1
  • However, the molecular consequences of aneuploidy are poorly understood and an unbiased investigation into aneuploid cell biology is lacking. (yeastgenome.org)
Significantly1
  • They significantly increase chromosome instability and aneuploidy in a subset of hepatocellular carcinoma, resulting in growth inhibition. (carislifesciences.com)
Determination2
  • This provides a more accurate determination of the presence of chromosome instability. (wikipedia.org)
  • Intuitive "eyeball" calls are uncommon in bulk RNA-seq or DNA-seq determination of aneuploidy and CNAs, so it is unsurprising that a simple stacking of read counts is insufficient for quality inference of aneuploidy in scRNA-seq data. (techscience.com)
Cell biology1
Losses1
Present2