In mice models, mutations in the Nbs1 subunit of MRN alone (producing the phenotypic analog of Nijmegen Breakage Syndrome in ... Telomeres maintain the integrity of the ends of linear chromosomes during replication and protect them from being recognized as ... Williams, BR; Mirzoeva, OK; Morgan, WF; Lin, J; Dunnick, W; Petrini, JH (16 April 2002). "A murine model of Nijmegen breakage ... Varon R, Demuth I, Chrzanowska KH (1993). "Nijmegen Breakage Syndrome". GeneReviews. PMID 20301355. Taylor AM, Rothblum-Oviatt ...

These enzymes have several functions: to remove DNA supercoils during transcription and DNA replication; for strand breakage ... separating the DNA of daughter chromosomes after DNA replication, and relax DNA. ... during recombination; for chromosome condensation; and to disentangle intertwined DNA during mitosis. This domain assumes a ...

In addition, after DNA is copied, ChlR1 plays a role in ensuring proper separation of each chromosome during cell division. By ... Warsaw breakage syndrome (Warsaw syndrome, WABS) is a rare genetic condition. Fewer than 10 cases have been reported by 2018. ... "Warsaw Breakage Syndrome". GOV.IL. Retrieved 9 April 2023. "DDX11 gene: MedlinePlus Genetics". medlineplus.gov. Retrieved 9 ... November 2018). "Warsaw breakage syndrome: Further clinical and genetic delineation". American Journal of Medical Genetics Part ...

"Chromosome breakage after G2 checkpoint release" (PDF). J. Cell Biol. 176 (6): 749-55. doi:10.1083/jcb.200612047. PMC 2064048. ... The intervening DNA between the V and D segments is ligated to form a circular DNA molecule that is lost from the chromosome. ... Articles with short description, Short description matches Wikidata, Genes on human chromosome 10). ... before the V and D segments are ligated to restore the integrity of the chromosome. The exact site of cleavage of the hairpin ...

... a chromosome with two centromeres. When dicentric chromosomes form, a series of events can occur called a breakage-fusion- ... As chromosome instability refers to the rate that chromosomes or large portions of chromosomes are changed, there should be ... It can occur due to loss of a whole chromosome, gain of a whole chromosome or rearrangement of partial chromosomes known as ... Since human chromosomes contain repetitive DNA sections, broken DNA segments from one chromosome can combine with similar ...

Meselson, M.; Weigle, J. (1961). "Chromosome Breakage Accompanying Genetic Recombination in Bacteriophage". Proceedings of the ... The question was whether such recombination involved breakage of the recombining DNA molecules or cooperative synthesis of new ... Meselson's initial demonstration of breakage-associated, replication-independent recombination was later found to reflect the ... normally used by the phage to insert itself into the chromosome of a host cell. Subsequently, variations of the experiment by ...

... is a member of the structural maintenance of chromosomes (SMC) family of proteins. Like other SMC proteins, Rad50 ... 1998). "The hMre11/hRad50 protein complex and Nijmegen breakage syndrome: linkage of double-strand break repair to the cellular ... Stracker TH, Theunissen JW, Morales M, Petrini JH (2005). "The Mre11 complex and the metabolism of chromosome breaks: the ... Cells from these patients showed increased radiosensitity with an impaired response to chromosome breaks. MRN complex ...

Arlt, MF; Glover, TW (Jun 4, 2010). "Inhibition of topoisomerase I prevents chromosome breakage at common fragile sites". DNA ... "An AT-Rich Sequence in Human Common Fragile Site FRA16D Causes Fork Stalling and Chromosome Breakage in S. cerevisiae". ... The majority of breakages at CFSs are induced by low doses of the antibiotic aphidicolin (APH). Co-treatment with low ... Breakage is reduced after treatment with CPT (camptothecin) (without APH), signifying that CPT also has a necessary role in ...

Chromosome breakage and complete genic mutation production in molecular terms. Mutation Res., v. 8, pp. 353-365. (In English); ... Molecular mechanisms of the origin of chromosome aberrations and the structural organization of eukaryotic DNA. Theor. Appl. ...

NBS is caused by a mutation in the NBS1 gene, located at human chromosome 8q21. The disease is inherited in an autosomal ... The I (2000). "Nijmegen breakage syndrome. The International Nijmegen Breakage Syndrome Study Group". Arch Dis Child. 82 (5): ... Group, The International Nijmegen Breakage Syndrome Study (2000-05-01). "Nijmegen breakage syndrome". Archives of Disease in ... Nijmegen breakage syndrome (NBS) is a rare autosomal recessive congenital disorder causing chromosomal instability, probably as ...

"Rad54/Rad54B deficiency is associated to increased chromosome breakage in mouse spermatocytes". Mutagenesis. 33 (4): 323-332. ... June 1997). "Characterization of the human homologue of RAD54: a gene located on chromosome 1p32 at a region of high loss of ... Carling T, Imanishi Y, Gaz RD, Arnold A (September 1999). "Analysis of the RAD54 gene on chromosome 1p as a potential tumor- ... Human RAD54, or hRAD54, is linked to chromosome 1p32. It encodes a protein, composed of 747 amino acids, that is 52% identical ...

McClintock observed the breakage and fusion of chromosomes in irradiated maize cells. She was also able to show that, in some ... Through her work with X-ray-mutagenized maize, she identified ring chromosomes, which form when the ends of a single chromosome ... By studying the morphology of the chromosomes, McClintock was able to link specific chromosome groups of traits that were ... spontaneous chromosome breakage occurred in the cells of the endosperm. Over the course of mitosis, she observed that the ends ...

Itzhaki JE, Barnett MA, MacCarthy AB, Buckle VJ, Brown WR, Porter AC (December 1992). "Targeted breakage of a human chromosome ... v t e (Articles with short description, Short description matches Wikidata, Genes on human chromosome 1, All stub articles, ...

In humans, a chromosome breakage syndrome characterized by severe lung disease in early childhood is associated with a mutation ... "Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease". J. Clin. Invest. 126 (8): 2881-92 ... Structural maintenance of chromosomes protein 6 is a protein that in humans is encoded by the SMC6 gene. The SMC6 was ... In yeast, SMC5/6 complex has sub-units which consists of SMC5, SMC6 and six nonstructural maintenance of chromosomes (NSE) ...

"Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease". The Journal of Clinical ...

Additionally, illegitimate recombinations may also result in dicentric chromosomes lead to chromosome breakage during anaphase ... Since the chromosomes may differ in genetic structure and content, segments of the chromosome may be shuffled around resulting ... The resolution of these structures results in chromosome breakage, rearrangement, and gamete infertility. Diploidization is ... Maintain intra-genomic chromosome pairing at meiosis Chromosome pairing during meiosis is a significant challenge for ...

In humans, a chromosome breakage syndrome characterized by severe lung disease in early childhood is associated with a mutation ... August 2016). "Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease". The Journal of ... Structural maintenance of chromosomes protein 5 is a protein encoded by the SMC5 gene in human. The structural maintenance of ... In yeast, SMC5/6 complex has sub-units which consists of SMC5, SMC6 and six nonstructural maintenance of chromosomes (NSE) ...

Chromosome instability syndromes are a group of disorders characterized by chromosomal instability and breakage. They often ... When the chromosome's structure is altered, this can take several forms: Deletions: A portion of the chromosome is missing or ... Chromosome abnormalities may be detected or confirmed by comparing an individual's karyotype, or full set of chromosomes, to a ... An abnormal number of chromosomes is known as aneuploidy, and occurs when an individual is either missing a chromosome from a ...

Nimmo, E. R; Cranston, G; Allshire, R. C (1994). "Telomere-associated chromosome breakage in fission yeast results in ... Allshire, R. C; Cranston, G; Gosden, J. R; Maule, J. C; Hastie, N. D; Fantes, P. A (1987). "A fission yeast chromosome can ... Pidoux, A. L; Uzawa, S; Perry, P. E; Cande, W. Z; Allshire, R. C (2000). "Live analysis of lagging chromosomes during anaphase ... Robin Campbell Allshire (born 19 May 1960) FRS FRSE FMedSci is Professor of Chromosome Biology at University of Edinburgh and a ...

"Synthesis of Desoxyribonucleic Acid in Normal and Irradiated Cells and Its Relation to Chromosome Breakage". International ...

... s are a group of inherited conditions associated with chromosomal instability and breakage. They ... Ataxia telangiectasia Ataxia telangiectasia-like disorder Bloom syndrome Fanconi anaemia Nijmegen breakage syndrome Chromosome ... Chromosome instability syndromes due to impaired DNA repair and with features of neurodegeneration and epigenetic alteration ... All articles with unsourced statements, Articles with unsourced statements from December 2019, Chromosome instability syndromes ...

"Synthesis of deoxyribonucleic acid in normal and irradiated cells and its relation to chromosome breakage". Heredity. 6 (Suppl ... Her Ph.D. thesis was The correlation between chromosome behaviour and susceptibility to mammary gland cancer in mice (1938), ... Phosphorus-32 made it impossible to obtain an autoradiograph localized down to individual chromosomes and parts of chromosomes ... "the idea that chromosomes are made of DNA was generally agreed on." On her first day, she suggested to Stephen Pelc that ...

"The NoCut pathway links completion of cytokinesis to spindle midzone function to prevent chromosome breakage". Cell. 125 (1): ...

"Nondisjunction of a single chromosome leads to breakage and activation of DNA damage checkpoint in G2". PLOS Genetics. 8 (2): ... or if the normal number of chromosomes is restored via duplication of the single monosomic chromosome ("chromosome rescue"). ... Gaining a single chromosome, in which the daughter cell(s) with the defect will have one chromosome in addition to its pairs is ... The extra Y chromosome is usually a result of nondisjunction during paternal meiosis II. Trisomy X is a form of sex chromosome ...

AML-M4 with an inversion of chromosome 16 is caused by breakage and rearrangement within itself. Criteria for AMML is confirmed ... AML with a translocation or inversion is seen in different chromosomes. Specifically, AML with inversion in chromosome 16 also ... This type of arrest is still under study but in most cases, a gene inactivation or activation has occurred due to chromosome ...

... producing translocation and deletion of part of a chromosome. Alkylating agents like mustard gas may also cause breakages in ... While changes to the chromosome caused by X-ray and mustard gas were readily observable to early researchers, other changes to ... Muller observed a number of chromosome rearrangements in his experiments, and suggested mutation as a cause of cancer. The ... Double-stranded breakages are especially damaging and hard to repair, ...

"Regulation of endonuclease activity by proteolysis prevents breakage of unmodified bacterial chromosomes by type I restriction ...

Bile acids cause DNA damage, including oxidative DNA damage, double-strand DNA breaks, aneuploidy and chromosome breakage. High ... suggesting that the purpose of the delay is to give the cell time to repair damaged chromosomes before continuing with the cell ... chromosome loss by replisome binding, replication stalling by transcription factors. The DDP human homologs are over- ... Chromosome Research. 27 (4): 345-364. doi:10.1007/s10577-019-09617-x. ISSN 0967-3849. PMC 7934912. PMID 31707536. Gasior, ...

In 1999, he began doctoral studies researching chromosome breakage syndrome, fanconi anemia, gene mutations, and acute myeloid ...

... and there are increases in chromosome breakage and rearrangements compared to persons who do not have Bloom's syndrome. Direct ... Other chromosome manifestations include chromatid breaks and gaps, telomere associations, and fragmented chromosomes. The hyper ... the chromosomes are duplicated so that each new cell will get a complete set of chromosomes. The duplication process is called ... At the level of the chromosomes, the rate of sister chromatid exchange in Bloom's syndrome is approximately 10 fold higher than ...