• The Mitelman Database of Chromosome Aberrations and Gene Fusions in Cancer is a free access database devoted to chromosomes, genes, and cancer. (wikipedia.org)
  • It was first published in 1983 as a book named "Catalog of Chromosome aberrations in Cancer" in the Journal of Cytogenetics and Cell Genetics, containing 3,844 cases. (wikipedia.org)
  • The information in the Mitelman Database of Chromosome Aberrations and Gene Fusions in Cancer relates cytogenetic changes and their genomic consequences, in particular gene fusions, to tumor characteristics, based either on individual cases or associations. (wikipedia.org)
  • The database is available on-line (https://mitelmandatabase.isb-cgc.org) for searches related to cases cytogenetics, gene fusions, clinical associations, structural or numerical recurrent aberrations and references. (wikipedia.org)
  • The Database of Chromosome Aberrations and Gene Fusions in Cancer, established in 1980, is an attempt to register systematically all published cytogenetic aberrations reported in cancer, including patient and tumor characteristics, gene fusions identified by cytogenetics or massively parallel sequencing, and studies pertaining to the clinical relevance of cytogenetic aberrations and/or gene rearrangements. (lu.se)
  • The database represents a unique international resource that enables clinicians to quickly find relevant information on cytogenetic aberrations and gene fusions in cancer and relate the findings to clinical data, in particular the diagnostic and prognostic significance of specific cytogenetic/genomic changes. (lu.se)
  • The continuously updated material also makes it possible to address scientific questions related to the mechanisms through which chromosomal/genomic changes participate in the carcinogenic process by elucidating why, how and when chromosome abnormalities are formed, the chromosomal anatomy of cytogenetic changes and genes involved in fusions, the role chromosome aberrations play in the formation of fusion genes, and the mechanisms by which gene fusions exert their effects. (lu.se)
  • Ring chromosomes are structural aberrations commonly associated with birth defects, mental disabilities and growth retardation. (ca.gov)
  • Owing to the severity of these large aberrations that can affect multiple contiguous genes, no possible therapeutic strategies for ring chromosome disorders have been proposed. (ca.gov)
  • Our results suggest a fundamentally different function for cellular reprogramming as a means of 'chromosome therapy' to reverse combined loss-of-function across many genes in cells with large-scale aberrations involving ring structures. (ca.gov)
  • 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)
  • Mitelman F, Johansson B, Mertens F, Schyman T, Mandahl N. Cancer chromosome breakpoints cluster in gene-rich genomic regions. (lu.se)
  • Genes Chromosomes Cancer 58:149-154, 2019. (lu.se)
  • Mitelman F. Cancer gene fusions detected by massive parallel sequencing. (lu.se)
  • Genes Chromosomes Cancer 55:291-310, 2016. (lu.se)
  • Mertens F, Johansson B, Fioretos T, Mitelman F. The emerging complexity of gene fusions in cancer. (lu.se)
  • The generality of this fusion reaction raises the possibility that dicentric chromosomes formed by inverted repeats can lead to genome instability in mammalian cells, and thereby contribute to a cancer phenotype. (arizona.edu)
  • Genes Chromosomes Cancer;57(6): 311-319, 2018 06. (bvsalud.org)
  • She developed ovarian cancer, and then the altered FA pathway plus exposure to cytotoxic drugs promoted the emergence of acquired somatic mutations and the NUP98-HOXC11 fusion, all of which contributed to the development of secondary t-CMML. (frontiersin.org)
  • ALK fusion and its association with other driver gene mutations in Finnish non-small cell lung cancer patients. (genomeweb.com)
  • The gene fusion biomarker is also a different type of fusion than researchers have found in cancer previously and may represent an entirely new mechanism that cancer cells use to outgrow their healthy neighbors. (eurekalert.org)
  • The SLC45A3-ELK4 gene fusion is detectable at high levels in the urine of some men at risk for prostate cancer. (eurekalert.org)
  • Dr. Rubin's team is already working with a company to develop a urine test for prostate cancer using a chromosome-based gene fusion called TMPRSS2-ERG that the team discovered previously while working with members of Dr. Arul Chinnaiyan's research group at the University of Michigan. (eurekalert.org)
  • The two genes, SLC45A3 and ELK4, reside next to one another on the chromosome in normal and prostate cancer cells. (eurekalert.org)
  • We think this type of gene fusion might be a common mechanism in cancer," Dr. Rubin says. (eurekalert.org)
  • Doctors will look for this change in chromosomes to confirm that your cancer is CCS. (cancer.gov)
  • The database was last updated on August 3, 2023, with a total number of cases=76,835, a total number of unique gene fusions=33,710 and a total number of genes involved=14,059. (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)
  • Functional centromeres, ensuring regular chromosome segregation in mitosis and meiosis, are a prerequisite for the evolutionary success of pre-existing and new chromosome variants. (muni.cz)
  • Chromosome segregation errors during meiosis are the leading cause of birth defects and developmental delays in humans ( H assold and H unt 2001 ). (biorxiv.org)
  • This gene encodes a member of a family of E3 small ubiquitin-related modifier (SUMO) ligases that mediates the attachment of a SUMO protein to proteins involved in nuclear transport, transcription, chromosome segregation and DNA repair. (nih.gov)
  • The encoded protein is part of the structural maintenance of chromosomes (SMC) 5/6 complex which plays a key role genome maintenance, facilitating chromosome segregation and suppressing mitotic recombination. (nih.gov)
  • The strong suppression of recombination in the pericentromeric regions and co-segregation of race specific chromosomes involved in the long chains would be expected to lead to linkage disequilibrium between genes located there. (preprints.org)
  • Genomic DNA from the somatic cell hybrids was tested for hybridization with each of an ordered set of probes used previously to construct a genetic map of chromosome 10, as well as several additional probes, previously localized by in situ hybridization. (ncsu.edu)
  • This case study reports a rare double minute chromosome via FLT3 amplification in CMML by using array-based comparative genomic hybridization and fluorescence in situ hybridization analyses. (hindawi.com)
  • Genetic analyses have provided a wealth of information on the genectic constitution of STT, and clearly nonrandom patterns of genetic changes, ranging from point mutations and gene fusions to massive genomic imbalalnces, have been identified in each histological entity studied in sufficient detail. (lu.se)
  • 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)
  • 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 S. cerevisiae MCD1 (mitotic chromosome determinant) gene was identified in genetic screens for genes important for chromosome structure. (nih.gov)
  • We present a model for mitotic chromosome structure that incorporates this previously unsuspected link. (nih.gov)
  • Fusion leads to the formation of dicentric chromosomes, a translocation, and other chromosomal rearrangements.Using extensive genetics and some molecular analyses, I demonstrate that dicentric chromosomes are key intermediates in genome instability of a specific chromosome in budding yeast. (arizona.edu)
  • Third, I demonstrate that a mutant known to stabilize dicentric chromosomes suppress instability. (arizona.edu)
  • Based on these observations, I conclude that dicentric chromosomes are intermediates in causing genome instability in this system.Next, we demonstrate that fusion of inverted repeats is general. (arizona.edu)
  • Studies of Exo1 and Pds1 provide us with insights into the molecular mechanisms of fusion.Our finding that nearby inverted repeats can fuse to form dicentric chromosomes that lead to genome instability may have great implications. (arizona.edu)
  • B-lymphoblastic leukemia / lymphoma with t(v;11q23.3) is a neoplasm of lymph oblasts committed to the B-cell lineage in which the blasts harbor a translocation between KMT2A (also called MLL) at band 11q23/3 and any of a large number of fusion partners. (cancer.gov)
  • Translocation was the most prevalent 50 (25%), followed by hypotriploidy 14 (7%) and monosomy 8 (4%) on chromosome aberration analysis. (scielo.br)
  • The (X;18)(p11;q11) translocation fuses the SYT gene from chromosome 18 to a homologous gene at Xp11 ( SSX1 , SSX2 , or SSX4 ). (medscape.com)
  • This specific chromosomal translocation between chromosome X and chromosome 18 has been noted in more than 90% of cases. (medscape.com)
  • Many, but not all, African gazelles possess a characteristic chromosomal translocation (fusion) of an autosome with the X chromosome. (ivis.org)
  • Chronic Myeloid Leukemia (CML) is associated with translocation between chromosome 9 & chromosome 22, t(9;22)(q34;q11.2) and with the formation of BCR-ABL fusion gene. (who.int)
  • Here in, we describe a 45 yrs old male, diagnosed as CML in Chronic phase with a complex translocation involving chromosomes 7, 9 & 22. (who.int)
  • 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)
  • Analysis of the mcd1 mutant and cell cycle-dependent expression pattern of Mcd1p suggest that this protein functions in chromosome morphogenesis from S phase through mitosis. (nih.gov)
  • During the division of somatic cells (mitosis) newly duplicated chromosomes (sister chromatids) separate and segregate to opposite daughter cells. (scienceblog.com)
  • NUP98-BPTF gene fusion identified in primary refractory acute megakaryoblastic leukemia of infancy. (bvsalud.org)
  • Comprehensive genetic testing showed that many molecular variations (including FA gene germline mutations, RAS and epigenetic pathway somatic mutations, and NUP98-HOXC11 fusion) were highly linked to her serious and complex medical history ( Figures 1A, B ). (frontiersin.org)
  • A number of scientific papers have been published indicating that LSD might cause structural changes in the chromosomes, genetic mutations, disturbances of embryonic development, and malignant degeneration of cells. (druglibrary.net)
  • Prenatal Fanconi anemia diagnosis can be accomplished by demonstration of chromosome breaks in cells obtained in utero from chorionic villus biopsy, amniocentesis, or cord blood (by cordocentesis) or by identification of Fanconi anemia gene mutations in DNA extracted from fetal cells. (medscape.com)
  • The events of meiotic prophase follow a specialized round of DNA replication when the meiotic chromosome axis is formed. (biorxiv.org)
  • In initial experiments, Ms. Penkner observed defects in meiotic chromosome structure, DNA breaks and premature separation of sister chromatides in cells lacking Mnd2. (scienceblog.com)
  • The rapid progress in plant comparative genomics and cytogenetics brings new insights into the evolutionary fate of centromeres and mechanisms of chromosome number reduction (descending dysploidy). (muni.cz)
  • In few newly diagnosed CML cases, complex cytogenetics variants of the Philadelphia (Ph) chromosome can be observed with the involvement of a third chromosome other than chromosome 9 & chromosome 22. (who.int)
  • We used computational modeling and single-cell imaging to determine chromosome positions, and integrated these data with genome-wide transcriptional profiles from RNA sequencing. (hal.science)
  • We find that chromosome fusions dramatically alter 3D nuclear organization without leading to strong genome-wide changes in transcription. (hal.science)
  • Using genetics, I also show that many DNA repair and checkpoint pathways suppress fusion of nearby inverted repeats and genome instability. (arizona.edu)
  • I identified a mutant of the Exonuclease 1 (Exo1) and a mutant of anaphase inhibitor securin (Pds1) that suppress nearby inverted repeat fusion and genome instability. (arizona.edu)
  • This whole package of DNA (genome) and protein (epigenome) in a chromosome is what controls the development and maintenance of eukaryotic organisms (protists, fungi, animals, and plants). (carnivorousplants.org)
  • The more similar the chromosomes (the genome and epigenome as well as chromosome number) the more likely hybrids will form and reproduce but also the more likely the net result will only be the introgression of genetic material from one species to the other. (carnivorousplants.org)
  • It arises when a piece of chromosome 9 fuses with a chromosome 22. (news-medical.net)
  • The broken piece of chromosome 9 includes part of the ABL1 gene. (medlineplus.gov)
  • A new international study of children with a severe form of acute lymphoblastic leukemia (ALL) shows that certain chromosome losses can signal an especially poor response to therapy, but that other chromosome abnormalities have no effect on treatment survival. (news-medical.net)
  • We expected that additional chromosome abnormalities would mean a worse outcome. (news-medical.net)
  • that is, abnormalities present in addition to the Philadelphia chromosome. (news-medical.net)
  • Heerema and her colleagues wanted to learn if secondary chromosome abnormalities contributed to a poor prognosis in children with ALL. (news-medical.net)
  • They found that having most secondary chromosome abnormalities had little affect on a child's prognosis. (news-medical.net)
  • That rate held true even when other chromosome abnormalities were present.Surprisingly, cases of this kind of leukemia that showed a second Philadelphia chromosome also did better than all cases combined. (news-medical.net)
  • The genetic controversy about LSD started in 1967 when Cohen, Marinello and Back (22) published a paper suggesting that LSD should be added to the list of substances capable of causing abnormalities in the chromosomes. (druglibrary.net)
  • Characterization of radiation/fusion hybrids containing parts of human chromosome 10 and their use in mapping chromosome 10-specific probes. (ncsu.edu)
  • We have characterized a panel of somatic cell hybrid cell lines which contain different portions of human chromosome 10. (ncsu.edu)
  • Additional 3-way chromosome translocations associated with CML are also reviewed. (who.int)
  • Here we generated human induced pluripotent stem cells (iPSCs) from patient fibroblasts containing ring chromosomes with large deletions and found that reprogrammed cells lost the abnormal chromosome and duplicated the wild-type homologue through the compensatory uniparental disomy (UPD) mechanism. (ca.gov)
  • Chromosomes and hybrids. (carnivorousplants.org)
  • The fate of plant hybrids in nature depends very much on the compatibility of the chromosomes of the parents, which parent is the seed parent, and the exact circumstances of the event. (carnivorousplants.org)
  • The more different the chromosomes of the hybrids are the more likely hybridization will result in a speciation event. (carnivorousplants.org)
  • They form a narrow hybrid zone and generate hybrids with both simple (chain of three chromosomes) and complex (chain of eight or nine) synaptic configurations. (preprints.org)
  • 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)
  • The mother produces gametes with XX chromosome instead of X chromosome which when fuses with the sperm of the father with X chromosome produces an abnormal baby with chromosomes- XXX. (vedantu.com)
  • It attaches (fuses) to part of the BCR gene on chromosome 22. (medlineplus.gov)
  • These data suggest that basal transcriptional activity is sensitive to radial changes in gene position, and provide insight into the functional relevance of budding yeast chromosome-level 3D organization in gene expression. (hal.science)
  • The fusion proteins SYT-SSX1 and SYT-SSX2 are believed to function as aberrant transcriptional regulators, resulting in either activation of proto-oncogenes or inhibition of tumor suppressor genes. (medscape.com)
  • A novel SERPINE1-FOSB fusion gene results in transcriptional up-regulation of FOSB in pseudomyogenic haemangioendothelioma. (lu.se)
  • Centromere loss and relocation in chromosome regions with otherwise conserved collinearity can be explained by conventional mechanisms of chromosome rearrangements or, as newly available phylogenomic and cytogenomic data suggest, by centromere inactivation through epigenetic chromatin modifications and/or intra-and inter-chromosomal recombination. (muni.cz)
  • Recurrent and mutually exclusive chimeric gene fusions associated with pediatric AMKL are found in 60%-70% of cases and include RBM15-MKL1, CBFA2T3-GLIS2, NUP98-KDM5A and MLL rearrangements. (bvsalud.org)
  • In addition, another 4% of AMKL harbor NUP98 rearrangements (NUP98r), with yet undetermined fusion partners. (bvsalud.org)
  • Novel PRKD gene rearrangements and variant fusions in cribriform adenocarcinoma of salivary gland origin. (genomeweb.com)
  • The hybrid zone between chromosome races of the common shrew ( Sorex araneus ) provides an exceptional model to study the potential role of chromosome rearrangements in the initial steps of speciation. (preprints.org)
  • Surprisingly, the nup2Δ ndj1Δ double mutant failed to segregate chromosomes, even though the meiotic program continued. (biorxiv.org)
  • When interpreting and troubleshooting fusion variants, I usually find myself reaching for the VCF spec. (goldenhelix.com)
  • Prior to the first meiotic division, homologous chromosomes pair, synapse, and recombine to ensure their proper disjunction at anaphase I. Additionally, telomeres tethered at the nuclear envelope cluster in the bouquet configuration where they are subjected to dramatic pulling forces acting from outside of the nucleus. (biorxiv.org)
  • Mertens F, Antonescu CR, Mitelman F: Gene fusions in soft tissue tumors: recurrent and overlapping pathogenetic themes. (lu.se)
  • Recurrent EWSR1-CREB3L1 Gene Fusions in Sclerosing Epithelioid Fibrosarcoma. (lu.se)
  • Recurrent PRDM10 Gene Fusions in Undifferentiated Pleomorphic Sarcoma. (lu.se)
  • The fusion results in an abnormal protein that plays an important role in the malignancy. (news-medical.net)
  • The protein Mnd2 inhibits premature separation of chromosomes during the formation of gametes. (scienceblog.com)
  • It is postulated that because her stature is within the normal range there has been no loss of genetic material in the fusion of the two Xs. (bmj.com)
  • In spite of our lack of attention to chromosomes and chromosome numbers in formally defining species, it is the chromosomes and the genetic material they contain that define true species and control the evolution of new species. (carnivorousplants.org)
  • An isodicentric X chromosome with short arm fusion in a woman without somatic features of Turner's syndrome. (bmj.com)
  • NEW YORK (April 9, 2009) -- A newly discovered gene fusion is highly expressed in a subset of prostate cancers, according to a study by researchers at Weill Cornell Medical College. (eurekalert.org)
  • Dr. Rubin anticipates that the newly discovered SLC45A3-ELK4 gene fusion may be added to that urine test in the future to increase its accuracy and also to potentially help determine the level of response to certain non-surgical systemic treatments. (eurekalert.org)
  • The physical association between Mcd1p and Smc1p, one of the SMC family of chromosomal proteins, further suggests that Mcd1p functions directly on chromosomes. (nih.gov)
  • Each chromosome consists of one very long molecule of DNA twisted around proteins. (carnivorousplants.org)
  • A correlation appears to exist between the histologic subtype of the tumor and either of these two fusion proteins. (medscape.com)
  • Using immunolocalisation of the meiotic proteins, we examined chromosome pairing and recombination in males from the hybrid zone. (preprints.org)
  • First, I detect a recombination fusion junction that is diagnostic of a dicentric chromosome (using a PCR technique). (arizona.edu)
  • Recombination frequency in the proximal regions of most chromosomes of all karyotypes was much lower than in the other regions. (preprints.org)
  • In this NUP98r, the C-terminal chromatin recognition modules of BPTF, a core subunit of the NURF ( nucleosome remodeling factor) ATP -dependent chromatin - remodeling complex, are fused to the N-terminal moiety of NUP98, creating an in frame NUP98-BPTF fusion, with structural homology to NUP98-KDM5A. (bvsalud.org)
  • The Novosibirsk and Tomsk races differ by a series of Robertsonian fusions with monobrachial homology. (preprints.org)
  • Eukaryotic DNA replication initiates at multiple origin sites along each chromosome and terminates when replication forks (RFs) from adjacent origins converge. (elifesciences.org)
  • DNA is packaged into structures in your cells called chromosomes. (medlineplus.gov)
  • Normally, most of your cells have the same set of 23 pairs of chromosomes. (medlineplus.gov)
  • Division of the chromosomes and formation of the first daughter cells? (evolutionnews.org)
  • Chromosomes got their name by early cell biologists when they observed certain dark-staining objects in dividing cells. (carnivorousplants.org)
  • In human dividing cells 46 chromosomes can be observed. (carnivorousplants.org)
  • We know that in CCS, chromosomes (the structures in your cells that contain all your genes) break apart and are put back together in the wrong way. (cancer.gov)
  • Cell-autonomous correction of ring chromosomes in human induced pluripotent stem cells. (ca.gov)
  • FLT3 (FMS-related tyrosine kinase 3) located on chromosome 13q12.2 encodes a receptor tyrosine kinase (RTK) that activates the Ras and PI3 kinase pathway leading to the increased proliferation and inhibition of apoptosis in hemopoietic progenitor cells [ 7 ]. (hindawi.com)
  • 22) * After my arrival in the United States, I participated in a major study concentrating on structural changes of the chromosomes in the white blood cells following LSD administration. (druglibrary.net)
  • The first group includes papers describing structural changes of the chromosomes produced by LSD in vitro , ** in these experiments various concentrations of LSD are added to cultures of cells from human, animal, or plant tissues in a test-tube. (druglibrary.net)
  • correction of chromosome breakage or of impaired growth by a specific vector indicates that the cells have a mutation in that gene. (medscape.com)
  • Fluorescence in-situ hybridization (FISH) showed BCR-ABL fusion signals pattern in 100% nucleated cells analyzed. (who.int)
  • Unlike the gene fusions previously found in cancers, which arise when two chromosomes join together in an abnormal way, the new fusion occurs when the genes are being copied into RNA. (eurekalert.org)
  • It was not until the early 20 th century that it was demonstrated that chromosomes contain the material of hereditary and it took until the middle 20 th century to determine that DNA in chromosomes was the principle coding molecule of heredity. (carnivorousplants.org)
  • The defect occurs in the 47th chromosome so it is also called 47, triple X syndrome. (vedantu.com)
  • Thus, distinct patterns of chromothripsis can be explained by the spatial clustering of pulverized chromosomes from micronuclei. (nature.com)
  • So females form only one type of gametes (i.e. the gametes have only X chromosome) while the males form two types of gametes called angiosperms (22 + X) and gymnosperms (22 + Y). So only a mother can produce an abnormal gamete with XX chromosomes as the gamete produced by father can have only one X chromosome. (vedantu.com)
  • EvC Forum: Evidence against chromosome 2 fusion? (evcforum.net)
  • Second, I show a strong correlation between the amount of the dicentric fragment and the frequency of instability of the entire chromosome. (arizona.edu)
  • Multicenter clinical trials are critically required to determine the frequency of this fusion in AMKL patients and explore innovative treatment strategies for a disease still plagued with poor outcomes. (bvsalud.org)