SegregationGenes on the X chromosomeColorectal cancerTumorMicronucleiCentromereGenomeCytoplasmMutationsSequencingKlinefelterTarget genesFemalesOvariesHaploidGeneticAbnormalityPhenotypeAutosomeNecrosisEmbryogenesisMechanismOrganismsProteinsMutationTranscription factorGenomicDifferentiallyCausative agentHaploinsufficiencyFrequentCellsSyndromeSpeciesChromosomalMiceFertilityCopyOvarianDeletionMRNAMolecular GeneticsAbsenceClusterPossessStudiesSingleFractionPHYSIOLOGYInfectiousCellResultsCellularCrucialAdultPatientsEffectsAdditionMillionMale-specific
Segregation2
- 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)
- Small RNAs play important roles in many aspects of pre- and post-transcriptional gene regulation, epigenetic modifications, chromosome segregation and genome structure. (biomedcentral.com)
Genes on the X chromosome2
- The genetic abnormality in TS is determined by the absence of one copy of genes on the X chromosome. (biomedcentral.com)
- Using a combination of miRNA hairpin predictions and co-mapping with miRBase entries, we identified a highly conserved cluster of miRNA genes on the X chromosome in the tammar and a total of 94 other predicted miRNA producing genes. (biomedcentral.com)
Colorectal cancer1
- Here, we set out to determine the relevance of AP4 in human colorectal cancer (CRC) cells. (biomedcentral.com)
Tumor4
- A common deleted region (CDR) in both myelodysplastic syndromes (MDS) and myeloproliferative neoplasms (MPN) affects the long arm of chromosome 20 and has been predicted to harbor a tumor suppressor gene. (elifesciences.org)
- have uncovered a key tumor suppressor among those genes frequently lost on chromosome 20. (elifesciences.org)
- To identify clinical and tumor molecular biomarkers associated with exceptional clinical response or resistance, we conducted an integrated clinical, exome, and transcriptome analysis of 41 primary tumors from LT ( n = 20) and ST ( n = 21) HGSOC patients. (biomedcentral.com)
- METHODS: WES was performed on 20 tumor pairs of multifocal LSCC and matched normal lymph nodes using the Illumina NovaSeq6000 S4-Xp (Illumina, San Diego, CA). WES clonal and subclonal analysis data were compared with histologic assessment by 16 thoracic pathologists. (bvsalud.org)
Micronuclei4
- 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)
- Thus, distinct patterns of chromothripsis can be explained by the spatial clustering of pulverized chromosomes from micronuclei. (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)
- 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)
Centromere2
- 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)
- The characterization of new miRNA target genes and a unique profile for crasiRNAs has allowed for insight into multiple RNA mediated processes in the tammar, including gene regulation, species incompatibilities, centromere and chromosome function. (biomedcentral.com)
Genome4
- When a HEG is integrated into its recognition sequence in the genome, its protein product acts to cleave its cognate site on the homologous chromosome and gene conversion or homologous recombination can result in a new copy of the HEG being inserted. (plos.org)
- Mapping all miRNAs to the tammar genome and comparing target genes among tammar, mouse and human, we identified 163 conserved target genes. (biomedcentral.com)
- The glossary features nearly 250 terms explained in an easy-to-understand way by leading scientists and professionals at the National Human Genome Research Institute. (genome.gov)
- Recent genome-wide analysis has shown that DNA methylation spans long stretches of chromosome regions consisting of clusters of contiguous CpG islands or gene families. (biomedcentral.com)
Cytoplasm2
- Inactivation of CIP2A-TOPBP1 caused acentric fragments to disperse throughout the mitotic cytoplasm, stochastically partition into the nucleus of both daughter cells and aberrantly misaccumulate as cytoplasmic DNA. (nature.com)
- cells have been found in association with cytotrophoblasts and present a periarteriolar attention around maternal bloodstream in metrial gland and decidua.In the mouse, it was described that after mid gestation some of these cells introduced DNA fragmentation, binucleation, indicating a failure in cytokinesis and enlargement of the cytoplasm accompanied by degranulation suggesting that these cells undergo apoptosis and/or necrosis. (pimpathway.com)
Mutations3
- In humans, mutations affecting the genes of this family are associated with specific diseases. (sdbonline.org)
- Younger age at diagnosis, no residual disease post debulking surgery and low CA125 levels following surgery and chemotherapy were clinical characteristics of LT. Tumors from LT survivors had increased somatic mutation burden (median 1.62 vs. 1.22 non-synonymous mutations/Mbp), frequent BRCA1/2 biallelic inactivation through mutation and loss of heterozygosity, and enrichment of activated CD4+, CD8+ T cells, and effector memory CD4+ T cells. (biomedcentral.com)
- In addition, the DNA in our own cells undergoes an estimated 30 new mutations during our lifetime, either through mistakes during DNA copying or cell division or, more often, because of damage from the environment. (dorak.info)
Sequencing1
- Sequencing of daughter cell pairs derived from micronucleated mother cells demonstrated that complex rearrangements are indeed a common outcome of micronucleus formation. (nature.com)
Klinefelter1
- There are various exceptions, such as individuals with Klinefelter syndrome (who have XXY chromosomes), Swyer syndrome (women with XY chromosomes), and XX male syndrome (men with XX chromosomes), however these exceptions are rare. (wikipedia.org)
Target genes2
- Burt proposed that such methods could be applied to engineer HEGs that recognise and cleave sequences within coding sequences of genes in insect genomes, with the subsequent invasion of these HEGs into a population leading to the inactivation of target genes and the subsequent decline in fitness of the targeted population [2] . (plos.org)
- In particular, HEG gene drive could be particularly effective if activity was restricted to the male germline to target genes required for female fertility/viability or engineered to destroy the X-chromosome by cutting at multiple X-specific sites [5] , [6] . (plos.org)
Females5
- In most cases, females have two of the same kind of sex chromosome (XX), and are called the homogametic sex. (wikipedia.org)
- The cells in females, with two X chromosomes, undergo X-inactivation, in which one of the two X chromosomes is inactivated. (wikipedia.org)
- Many insects of the order Hymenoptera instead have a haplo-diploid system, where the females are full diploids (with all chromosomes appearing in pairs) but males are haploid (having just one copy of all chromosomes). (wikipedia.org)
- Turner syndrome (45, X, TS, monosomy X) is the genetic disorder resulting from the absence of all or part of one X chromosome in females. (biomedcentral.com)
- Although one X chromosome undergoes inactivation in normal females during early embryogenesis, about 15% of all X chromosome genes, mostly situated on the short arm (Xp), remain active to some degree on both X chromosomes [ 17 ]. (biomedcentral.com)
Ovaries1
- In some instances, a seemingly normal female with a vagina, cervix, and ovaries has XY chromosomes, but the SRY gene has been shut down. (wikipedia.org)
Haploid1
- The human Y chromosome is male specific, constitutively haploid and largely escapes meiotic recombination. (biomedcentral.com)
Genetic5
- 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)
- A comparison of four virulent Y. pestis strains with the human-avirulent strain 91001 provides further insight into the genetic basis of virulence to humans. (asm.org)
- Genetic studies have clarified that most microcephaly genes encode ubiquitous proteins involved in mitosis and in maintenance of genomic stability, but the effects of their inactivation are particularly strong in neural progenitors. (cancerindex.org)
- In Cri-Du-Chat syndrome (5p deletion), the genetic basis of the phenotype is haploinsufficiency for the telomerase reverse transcriptase gene ( TERT ), which is included in the deleted part of chromosome 5. (dorak.info)
- Genetic analysis included karyotyping, X inactivation studies, fluorescent in situ hybridization, microsatellite marker genotyping, and array comparative genomic hybridization. (biomedcentral.com)
Abnormality1
- Aneuploidy is an abnormality in the number of chromosomes in a cell due to loss or duplication. (genome.gov)
Phenotype3
- Embryos lacking maternal lilli expression show specific defects in the establishment of a functional cytoskeleton during cellularization, and exhibit a pair-rule segmentation phenotype. (sdbonline.org)
- C) on chromosome 4q25 with atrial fibrillation (AF), but phenotype alterations conferred by this SNP have not been described. (nature.com)
- Detailed mapping suggests that haploinsufficiency of one or more genes in Xp22.3, the distal 8.3 megabases (Mb) of the X chromosome, is responsible for a TS neurocognitive phenotype. (biomedcentral.com)
Autosome2
- Mammalian Y chromosome originated from an ancestral autosome about 300 million years ago is a degenerated X-chromosome [ 16 ]. (biomedcentral.com)
- An autosome is one of the numbered chromosomes, as opposed to the sex chromosomes. (genome.gov)
Necrosis1
- Without dystrophin, muscles are susceptible to mechanical injury and undergo repeated cycles of necrosis and regeneration. (medscape.com)
Embryogenesis1
- lilli functions as a maternally provided pair-rule gene that is essential for proper cellularization, gastrulation and segmentation during embryogenesis. (sdbonline.org)
Mechanism2
- In several protozoans, the status of this mechanism remains elusive, such as in Leishmania , the causative agent of the disease leishmaniasis in humans and a wide array of vertebrate animals. (mdpi.com)
- These data highlight a potentially unrecognized mechanism of DAXX inactivation in ALT positive osteosarcoma and provide rationale for thorough and comprehensive analyses of ATRX/DAXX/H3.3 proteins in ALT positive cancers. (oncotarget.com)
Organisms1
- There is ample evidence for the preservation of multiple gene copies due to selection for increased gene dosage in diverse organisms [ 20 ]. (biomedcentral.com)
Proteins2
- More than half of all human genes are alternatively spliced, so it is expected that alternative pre- mRNA splicing will be responsible for the identification of more than 90 percent of all human proteins. (genomicglossaries.com)
- This over produced AOS damages/ oxidizes to lipids, proteins and nucleic acids, and releases a number of cytotoxic intermediate/ end products thereby alterations in metabolic pathways and inactivation of key enzymes. (degruyter.com)
Mutation1
Transcription factor1
- The PITX gene encode the paired-like homeodomain transcription factor family. (nature.com)
Genomic1
Differentially1
- In Salmonella , five T6SS gene clusters have been identified within pathogenicity islands SPI-6, SPI-19, SPI-20, SPI-21, and SPI-22, which are differentially distributed among serotypes. (frontiersin.org)
Causative agent1
- Yersinia pestis , the causative agent of bubonic and pneumonic plagues, has undergone detailed study at the molecular level. (asm.org)
Haploinsufficiency1
- We conclude that downregulation of MYBL2 activity below levels predicted by classical haploinsufficiency underlies the clonal expansion of hematopoietic progenitors in a large fraction of human myeloid malignancies. (elifesciences.org)
Frequent2
- The most common change was loss on chromosome 22, which was more frequent in sporadic than in NF2 related tumours. (bmj.com)
- Of the 69 restriction sites detected in DYZ1 arrays, Mbo II, Bsr I, Tsp EI and Taq I enzymes showed frequent loss and or gain amongst all the 3 pairs studied. (biomedcentral.com)
Cells4
- Life depends on constant replenishment of human body cells with new cells created by differentiation of adult stem cells. (anti-agingfirewalls.com)
- According to a simplified model of this theory a newly-conceived human embryo consists of pluripotent stem cells (Type A), ones that can potentially divide into any body cells. (anti-agingfirewalls.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)
- In a murine competitive reconstitution model, Mybl2 knockdown by RNAi to 20-30% of normal levels in multipotent hematopoietic progenitors resulted in clonal dominance of these 'sub-haploinsufficient' cells, which was reflected in all blood cell lineages. (elifesciences.org)
Syndrome2
- The most common human ovarian pathologies that cause infertility are Polycystic Ovary Syndrome (PCOS) and Premature Ovarian Insufficiency (POI), and both pathologies have been briefly discussed at the end of the review. (lidsen.com)
- how- felter syndrome is characterized by X chromosome polys- ever, successful sperm recovery from men with Kline- omy with X disomy being the most common variant felter syndrome indicating that adolescents with Kline- (47,XXY). (health-abstracts.com)
Species6
- In most species with XY sex determination, an organism must have at least one X chromosome in order to survive. (wikipedia.org)
- In humans, most mammals, and some other species, two of the chromosomes, called the X chromosome and Y chromosome, code for sex. (wikipedia.org)
- In these species, one or more genes are present on their Y chromosome that determine maleness. (wikipedia.org)
- Other species (including most Drosophila species) use the presence of two X chromosomes to determine femaleness: one X chromosome gives putative maleness, but the presence of Y chromosome genes is required for normal male development. (wikipedia.org)
- In these species sex determination is similar to mammals where male is XY and female is XX. (wikipedia.org)
- An animal model is a non-human species used in biomedical research because it can mimic aspects of a biological process or disease found in humans. (genome.gov)
Chromosomal1
- Inactivation of AP4 in CRC cell lines resulted in increased spontaneous and c-MYC-induced DNA damage, chromosomal instability (CIN) and cellular senescence. (biomedcentral.com)
Mice4
- Animal models (e.g., mice, rats, zebrafish and others) are sufficiently like humans in their anatomy, physiology or response to a pathogen that researchers can extrapolate the results of animal model studies to better understand human physiology and disease. (genome.gov)
- Relevant of mutagenicity and clastogenici- angiosarcomas of the liver, which carcinogens discussed in this chap- ty, including the induction of sister are rare tumours, were identified in ter do not include pharmaceutical chromatid exchange (SCE), chro- humans, rats, and mice exposed to drugs classified in Group 1, which mosomal aberrations (CA), and mi- vinyl chloride. (who.int)
- or each of these agents, carcinogenicity in rats and/or mice, els, differences in exposure con- there was sufficient evidence of car- for example for the liver (aflatoxins, ditions between studies in animals cinogenicity from studies in rats and/ trichloroethylene [TCE], and vinyl and in humans, or limitations in Part 1 · Chapter 1. (who.int)
- It is proven in mice and seems to apply to at least some humans. (epiphanyasd.com)
Fertility1
- and human spermatogenic stem cell culture to treat azoospermia, and to preserve fertility in pre-pubertal boys undergoing cancer treatment. (infertile.com)
Copy2
- 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)
- Importantly, eight tumours (10%) showed gain of copy number on chromosome 9q34. (bmj.com)
Ovarian1
- Two other cardinal TS features, ovarian failure and short stature, as well as X chromosome inactivation pattern and subject's age, were unrelated to the TSCS score. (biomedcentral.com)
Deletion1
- This deletion is only ever seen in one of their two copies of the chromosome-suggesting that at least some of these genes are essential for survival-but the identity of the gene(s) that are associated with the increased risk of myeloid malignancies is unknown. (elifesciences.org)
MRNA3
- The first class of small RNAs identified were the micro RNAs (miRNAs), which are small (~22 nt) non-coding RNAs that regulate gene expression by base pairing to mRNAs where they direct either mRNA cleavage or repress translation [ 8 ]. (biomedcentral.com)
- The mature miRNA is then loaded onto an Argonaute protein (Ago2 in humans) where it then interacts with and regulates the mRNA target. (biomedcentral.com)
- Each time an amino acid is added to a growing polypeptide during protein synthesis, a tRNA anticodon pairs with its complementary codon on the mRNA molecule, ensuring that the appropriate amino acid is inserted into the polypeptide. (genome.gov)
Molecular Genetics1
- This article is part of a Special Issue entitled: Molecular Genetics of Human Reproductive Failure. (infertile.com)
Absence2
- in the absence of the Y chromosome, the fetus will undergo female development. (wikipedia.org)
- The sex chromosome combination, particularly the presence of a Y chromosome, triggers a male pattern of development while its absence promotes female development. (lidsen.com)
Cluster1
- 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)
Possess2
- Many individuals affected by these disorders possess a shortened form of chromosome 20 that lacks a number of genes. (elifesciences.org)
- Homing endonucleases differ functionally from the more well-known restriction endonucleases in that they possess longer recognition sequences of 18-22 base pairs in length. (plos.org)
Studies2
- It has been argued that each of the biovars was associated with one of the plague pandemics ( 14 , 20 , 34 ), and recent studies have tried to provide direct evidence of whether Y. pestis was associated with any of the historical pandemics ( 15 , 44 ). (asm.org)
- In this chapter, electrophilic agents nogenicity from studies of exposed (benzene, 1,3-butadiene, and eth- include direct-acting electrophilic humans. (who.int)
Single1
- A single gene (SRY) present on the Y chromosome acts as a signal to set the developmental pathway towards maleness. (wikipedia.org)
Fraction2
- In the present study we used DYZ1, a satellite fraction present in the form of tandem arrays on the long arm of the human Y chromosome, as a tool to uncover sequence variations between the monozygotic males. (biomedcentral.com)
- We also observed that the fraction of targets undergoing homing was temperature-sensitive, falling nearly four-fold when the temperature was lowered to 18°C. Taken together, this study demonstrates how a few simple measures can lead to substantial improvements in the HEG-based gene drive strategy and reinforce the idea that the HEG approach may be widely applicable to a variety of insect control programs. (plos.org)
PHYSIOLOGY1
- AN - check the tag INFANT HN - 2008 FX - Child Nutrition FX - Infant Nutrition Physiology FX - Milk FX - Milk, Human DH - Adolescent Nutrition DI - 052508 MN - SP6.021.067 MS - Nutrition of persons 10 through 19 years of age. (bvsalud.org)
Infectious3
- Plague is a zoonotic disease, endemic throughout the world, and highly infectious in humans. (asm.org)
- Although human disease is rare, Y. pestis is dangerous and highly infectious and thus has been identified as having potential for use in bioterrorism or as a biological weapon. (asm.org)
- strong class="kwd-title" Keywords: thrombopoietin receptor agonists, thrombocytopenia, dengue, immune thrombocytopenic purpura Introduction and background Dengue is an infectious, arboviral disease of humans transmitted by mosquitoes [1]. (enmd-2076.com)
Cell2
- The inactivated X chromosome remains within a cell as a Barr body. (wikipedia.org)
- Many human body cell types have a remarkable rate of turnover. (anti-agingfirewalls.com)
Results2
- It is also reported that human PITX2 insufficiency results in cellular and molecular changes leading to atrial electrical and structural remodeling linked to arrhythmogenesis 6 . (nature.com)
- This results in 7,Cardinal to 15,000 infirmary girdle apiece twelvemonth buy forzest 20 mg without prescription erectile dysfunction johnson city tn. (wgc2010.sk)
Cellular1
- To highlight some adverse reproductive outcomes associated with perturbations at the molecular and cellular levels in human folliculogenesis, two examples, i.e. (lidsen.com)
Crucial2
- Thus, crucial genes seem to have been retained by the Y chromosome. (biomedcentral.com)
- A biological process that is crucial for gene expression in most animal life, including humans. (genomicglossaries.com)
Adult1
Patients2
- The earlier recognition of PHPT has increased the number of parathyroidectomies performed for PHPT, considering that about one tenth of all patients with PHPT undergo surgery in an early phase of disease. (snmjournals.org)
- We identified patients from the Princess Margaret Cancer Registry diagnosed with HGSOC who underwent primary debulking surgery. (biomedcentral.com)
Effects3
- Colony formation, β-gal staining, immunofluorescence, comet and homologous recombination (HR) assays and RNA-Seq analysis were used to determine the effects of AP4 inactivation. (biomedcentral.com)
- LOAELs or NOAELs should also help in determining whether or not the effects vary with dose and/or duration, and place into perspective the possible significance of these effects to human health. (cdc.gov)
- Public health officials and others concerned with appropriate actions to take at hazardous waste sites may want information on levels of exposure associated with more subtle effects in humans or animals (LOAELs) or exposure levels below which no adverse effects (NOAELs) have been observed. (cdc.gov)
Addition1
- In addition, carcinogenic to humans . (who.int)
Million1
- More than 2.5 billion people PSI of the worlds population reside in high-risk dengue-transmission areas, with approximately 400 million infections occurring annually and about a 5%-20% mortality rate [2]. (enmd-2076.com)
Male-specific1
- citation needed] Not all male-specific genes are located on the Y chromosome. (wikipedia.org)