Relevant bibliographies by topics / Chromosomal rearrangements

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  1. Journal articles
  2. Dissertations / Theses
  3. Books
  4. Book chapters
  5. Conference papers
  6. Reports

Academic literature on the topic 'Chromosomal rearrangements'

Author: Grafiati
Published: 4 June 2021
Last updated: 25 May 2024

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Journal articles on the topic "Chromosomal rearrangements"

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Schoen, Daniel J. "Comparative Genomics, Marker Density and Statistical Analysis of Chromosome Rearrangements." Genetics 154, no. 2 (February 1, 2000): 943–52. http://dx.doi.org/10.1093/genetics/154.2.943.

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Abstract Estimates of the number of chromosomal breakpoints that have arisen (e.g., by translocation and inversion) in the evolutionary past between two species and their common ancestor can be made by comparing map positions of marker loci. Statistical methods for doing so are based on a random-breakage model of chromosomal rearrangement. The model treats all modes of chromosome rearrangement alike, and it assumes that chromosome boundaries and breakpoints are distributed randomly along a single genomic interval. Here we use simulation and numerical analysis to test the validity of these model assumptions. Mean estimates of numbers of breakpoints are close to those expected under the random-breakage model when marker density is high relative to the amount of chromosomal rearrangement and when rearrangements occur by translocation alone. But when marker density is low relative to the number of chromosomes, and when rearrangements occur by both translocation and inversion, the number of breakpoints is underestimated. The underestimate arises because rearranged segments may contain markers, yet the rearranged segments may, nevertheless, be undetected. Variances of the estimate of numbers of breakpoints decrease rapidly as markers are added to the comparative maps, but are less influenced by the number or type of chromosomal rearrangement separating the species. Variances obtained with simulated genomes comprised of chromosomes of equal length are substantially lower than those obtained when chromosome size is unconstrained. Statistical power for detecting heterogeneity in the rate of chromosomal rearrangement is also investigated. Results are interpreted with respect to the amount of marker information required to make accurate inferences about chromosomal evolution.
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Donaldson, Brendan, Daniel A. F. Villagomez, Tamas Revay, Samira Rezaei, and W. Allan King. "Non-Random Distribution of Reciprocal Translocation Breakpoints in the Pig Genome." Genes 10, no. 10 (September 30, 2019): 769. http://dx.doi.org/10.3390/genes10100769.

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Balanced chromosome rearrangements are one of the main etiological factors contributing to hypoprolificacy in the domestic pig. Amongst domestic animals, the pig is considered to have the highest prevalence of chromosome rearrangements. To date over 200 unique chromosome rearrangements have been identified. The factors predisposing pigs to chromosome rearrangements, however, remain poorly understood. Nevertheless, here we provide empirical evidence which sustains the notion that there is a non-random distribution of chromosomal rearrangement breakpoints in the pig genome. We sought to establish if there are structural chromosome factors near which rearrangement breakpoints preferentially occur. The distribution of rearrangement breakpoints was analyzed across three level, chromosomes, chromosome arms, and cytogenetic GTG-bands (G-banding using trypsin and giemsa). The frequency of illegitimate exchanges (e.g., reciprocal translocations) between individual chromosomes and chromosome arms appeared to be independent of chromosome length and centromere position. Meanwhile chromosome breakpoints were overrepresented on some specific G-bands, defining chromosome hotspots for ectopic exchanges. Cytogenetic band level factors, such as the length of bands, chromatin density, and presence of fragile sites, were associated with the presence of translocation breakpoints. The characteristics of these bands were largely similar to that of hotspots in the human genome. Therefore, those hotspots are proposed as a starting point for future molecular analyses into the genomic landscape of porcine chromosome rearrangements.
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Ostevik, Kate L., Kieran Samuk, and Loren H. Rieseberg. "Ancestral Reconstruction of Karyotypes Reveals an Exceptional Rate of Nonrandom Chromosomal Evolution in Sunflower." Genetics 214, no. 4 (February 7, 2020): 1031–45. http://dx.doi.org/10.1534/genetics.120.303026.

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Mapping the chromosomal rearrangements between species can inform our understanding of genome evolution, reproductive isolation, and speciation. Here, we present a novel algorithm for identifying regions of synteny in pairs of genetic maps, which is implemented in the accompanying R package syntR. The syntR algorithm performs as well as previous ad hoc methods while being systematic, repeatable, and applicable to mapping chromosomal rearrangements in any group of species. In addition, we present a systematic survey of chromosomal rearrangements in the annual sunflowers, which is a group known for extreme karyotypic diversity. We build high-density genetic maps for two subspecies of the prairie sunflower, Helianthus petiolaris ssp. petiolaris and H. petiolaris ssp. fallax. Using syntR, we identify blocks of synteny between these two subspecies and previously published high-density genetic maps. We reconstruct ancestral karyotypes for annual sunflowers using those synteny blocks and conservatively estimate that there have been 7.9 chromosomal rearrangements per million years, a high rate of chromosomal evolution. Although the rate of inversion is even higher than the rate of translocation in this group, we further find that every extant karyotype is distinguished by between one and three translocations involving only 8 of the 17 chromosomes. This nonrandom exchange suggests that specific chromosomes are prone to translocation and may thus contribute disproportionately to widespread hybrid sterility in sunflowers. These data deepen our understanding of chromosome evolution and confirm that Helianthus has an exceptional rate of chromosomal rearrangement that may facilitate similarly rapid diversification.
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Stern, MH, S. Lipkowitz, A. Aurias, C. Griscelli, G. Thomas, and IR Kirsch. "Inversion of chromosome 7 in ataxia telangiectasia is generated by a rearrangement between T-cell receptor beta and T-cell receptor gamma genes." Blood 74, no. 6 (November 1, 1989): 2076–80. http://dx.doi.org/10.1182/blood.v74.6.2076.2076.

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Abstract Specific and recurrent chromosomal rearrangements are often observed in the karyotypes of phytohemagglutinin-stimulated lymphocytes. The percentage of cells demonstrating these rearrangements is dramatically increased in the genetic disease ataxia telangiectasia. Inversion of chromosome 7 represents approximately half of the chromosomal rearrangements in this disease. Because the chromosomal locations of the inv(7) breakpoints coincide precisely with those of the T-cell antigen receptor (TCR) beta and gamma genes, it has been hypothesized that this rearrangement may occur by recombination between those two loci. Here, we present direct evidence that inversion of chromosome 7 in ataxia telangiectasia is generated by site-specific recombination between a TCR gamma variable segment and a TCR beta joining segment.
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Stern, MH, S. Lipkowitz, A. Aurias, C. Griscelli, G. Thomas, and IR Kirsch. "Inversion of chromosome 7 in ataxia telangiectasia is generated by a rearrangement between T-cell receptor beta and T-cell receptor gamma genes." Blood 74, no. 6 (November 1, 1989): 2076–80. http://dx.doi.org/10.1182/blood.v74.6.2076.bloodjournal7462076.

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Specific and recurrent chromosomal rearrangements are often observed in the karyotypes of phytohemagglutinin-stimulated lymphocytes. The percentage of cells demonstrating these rearrangements is dramatically increased in the genetic disease ataxia telangiectasia. Inversion of chromosome 7 represents approximately half of the chromosomal rearrangements in this disease. Because the chromosomal locations of the inv(7) breakpoints coincide precisely with those of the T-cell antigen receptor (TCR) beta and gamma genes, it has been hypothesized that this rearrangement may occur by recombination between those two loci. Here, we present direct evidence that inversion of chromosome 7 in ataxia telangiectasia is generated by site-specific recombination between a TCR gamma variable segment and a TCR beta joining segment.
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Villa, Nicoletta, Serena Redaelli, Stefania Farina, Donatella Conconi, Elena Maria Sala, Francesca Crosti, Silvana Mariani, et al. "Genomic Complexity and Complex Chromosomal Rearrangements in Genetic Diagnosis: Two Illustrative Cases on Chromosome 7." Genes 14, no. 9 (August 27, 2023): 1700. http://dx.doi.org/10.3390/genes14091700.

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Complex chromosomal rearrangements are rare events compatible with survival, consisting of an imbalance and/or position effect of one or more genes, that contribute to a range of clinical presentations. The investigation and diagnosis of these cases are often difficult. The interpretation of the pattern of pairing and segregation of these chromosomes during meiosis is important for the assessment of the risk and the type of imbalance in the offspring. Here, we investigated two unrelated pediatric carriers of complex rearrangements of chromosome 7. The first case was a 2-year-old girl with a severe phenotype. Conventional cytogenetics evidenced a duplication of part of the short arm of chromosome 7. By array-CGH analysis, we found a complex rearrangement with three discontinuous trisomy regions (7p22.1p21.3, 7p21.3, and 7p21.3p15.3). The second case was a newborn investigated for hypodevelopment and dimorphisms. The karyotype analysis promptly revealed a structurally altered chromosome 7. The array-CGH analysis identified an even more complex rearrangement consisting of a trisomic region at 7q11.23q22 and a tetrasomic region of 4.5 Mb spanning 7q21.3 to q22.1. The mother’s karyotype examination revealed a complex rearrangement of chromosome 7: the 7q11.23q22 region was inserted in the short arm at 7p15.3. Finally, array-CGH analysis showed a trisomic region that corresponds to the tetrasomic region of the son. Our work proved that the integration of several technical solutions is often required to appropriately analyze complex chromosomal rearrangements in order to understand their implications and offer appropriate genetic counseling.
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Xie, Songlin, Nadeem Khan, M. S. Ramanna, Lixin Niu, Agnieszka Marasek-Ciolakowska, Paul Arens, and Jaap M. van Tuyl. "An assessment of chromosomal rearrangements in neopolyploids of Lilium hybrids." Genome 53, no. 6 (June 2010): 439–46. http://dx.doi.org/10.1139/g10-018.

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Two types of newly induced polyploids (neopolyploids) of Lilium hybrids were monitored for the occurrence of chromosomal rearrangements through genomic in situ hybridization (GISH) technique. One of the populations was obtained through crossing an allotriploid Longiflorum × Oriental hybrid (LLO) with an allotetraploid Longiflorum × Trumpet hybrid (LLTT), both of which were derived from somatic chromosome doubling. The other type of allopolyploid population was derived from meiotic chromosome doubling in which numerically unreduced (2n) gametes from two different interspecific hybrids, namely, Longiflorum × Asiatic (LA) and Oriental × Asiatic (OA), were used to get backcross progeny with the Asiatic parents. GISH clearly discriminated the three constituent genomes (L, T, and O) in the complements of the progeny obtained from mitotic chromosome doubling. A total of 26 individuals were analyzed from this population and there was no evidence of chromosomal rearrangements. However, in the case of meiotically doubled allopolyploid progeny, considerable frequencies of chromosomal rearrangements were observed through GISH. The so-called chromosomal rearrangements in meiotic polyploids are the result of homoeologous recombination rather than translocations. Furthermore, evidence for the occurrence of meiotic recombination in the LA hybrids has been confirmed with GISH on meiotic chromosomes. Thus, there was evidence that neopolyploids of Lilium hybrids did not possess any noticeable chromosome rearrangements.
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Marder, B. A., and W. F. Morgan. "Delayed chromosomal instability induced by DNA damage." Molecular and Cellular Biology 13, no. 11 (November 1993): 6667–77. http://dx.doi.org/10.1128/mcb.13.11.6667-6677.1993.

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DNA damage induced by ionizing radiation can result in gene mutation, gene amplification, chromosome rearrangements, cellular transformation, and cell death. Although many of these changes may be induced directly by the radiation, there is accumulating evidence for delayed genomic instability following X-ray exposure. We have investigated this phenomenon by studying delayed chromosomal instability in a hamster-human hybrid cell line by means of fluorescence in situ hybridization. We examined populations of metaphase cells several generations after expanding single-cell colonies that had survived 5 or 10 Gy of X rays. Delayed chromosomal instability, manifested as multiple rearrangements of human chromosome 4 in a background of hamster chromosomes, was observed in 29% of colonies surviving 5 Gy and in 62% of colonies surviving 10 Gy. A correlation of delayed chromosomal instability with delayed reproductive cell death, manifested as reduced plating efficiency in surviving clones, suggests a role for chromosome rearrangements in cytotoxicity. There were small differences in chromosome destabilization and plating efficiencies between cells irradiated with 5 or 10 Gy of X rays after a previous exposure to 10 Gy and cells irradiated only once. Cell clones showing delayed chromosomal instability had normal frequencies of sister chromatid exchange formation, indicating that at this cytogenetic endpoint the chromosomal instability was not apparent. The types of chromosomal rearrangements observed suggest that chromosome fusion, followed by bridge breakage and refusion, contributes to the observed delayed chromosomal instability.
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Marder, B. A., and W. F. Morgan. "Delayed chromosomal instability induced by DNA damage." Molecular and Cellular Biology 13, no. 11 (November 1993): 6667–77. http://dx.doi.org/10.1128/mcb.13.11.6667.

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DNA damage induced by ionizing radiation can result in gene mutation, gene amplification, chromosome rearrangements, cellular transformation, and cell death. Although many of these changes may be induced directly by the radiation, there is accumulating evidence for delayed genomic instability following X-ray exposure. We have investigated this phenomenon by studying delayed chromosomal instability in a hamster-human hybrid cell line by means of fluorescence in situ hybridization. We examined populations of metaphase cells several generations after expanding single-cell colonies that had survived 5 or 10 Gy of X rays. Delayed chromosomal instability, manifested as multiple rearrangements of human chromosome 4 in a background of hamster chromosomes, was observed in 29% of colonies surviving 5 Gy and in 62% of colonies surviving 10 Gy. A correlation of delayed chromosomal instability with delayed reproductive cell death, manifested as reduced plating efficiency in surviving clones, suggests a role for chromosome rearrangements in cytotoxicity. There were small differences in chromosome destabilization and plating efficiencies between cells irradiated with 5 or 10 Gy of X rays after a previous exposure to 10 Gy and cells irradiated only once. Cell clones showing delayed chromosomal instability had normal frequencies of sister chromatid exchange formation, indicating that at this cytogenetic endpoint the chromosomal instability was not apparent. The types of chromosomal rearrangements observed suggest that chromosome fusion, followed by bridge breakage and refusion, contributes to the observed delayed chromosomal instability.
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Swenson, Krister M., and Mathieu Blanchette. "Large-scale mammalian genome rearrangements coincide with chromatin interactions." Bioinformatics 35, no. 14 (July 2019): i117—i126. http://dx.doi.org/10.1093/bioinformatics/btz343.

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Abstract Motivation Genome rearrangements drastically change gene order along great stretches of a chromosome. There has been initial evidence that these apparently non-local events in the 1D sense may have breakpoints that are close in the 3D sense. We harness the power of the Double Cut and Join model of genome rearrangement, along with Hi-C chromosome conformation capture data to test this hypothesis between human and mouse. Results We devise novel statistical tests that show that indeed, rearrangement scenarios that transform the human into the mouse gene order are enriched for pairs of breakpoints that have frequent chromosome interactions. This is observed for both intra-chromosomal breakpoint pairs, as well as for inter-chromosomal pairs. For intra-chromosomal rearrangements, the enrichment exists from close (<20 Mb) to very distant (100 Mb) pairs. Further, the pattern exists across multiple cell lines in Hi-C data produced by different laboratories and at different stages of the cell cycle. We show that similarities in the contact frequencies between these many experiments contribute to the enrichment. We conclude that either (i) rearrangements usually involve breakpoints that are spatially close or (ii) there is selection against rearrangements that act on spatially distant breakpoints. Availability and implementation Our pipeline is freely available at https://bitbucket.org/thekswenson/locality. Supplementary information Supplementary data are available at Bioinformatics online.
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Dissertations / Theses on the topic "Chromosomal rearrangements"

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Mohebi, Saed. "Analysis of chromosomal rearrangements after replication restart." Thesis, University of Sussex, 2014. http://sro.sussex.ac.uk/id/eprint/52499/.

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Impediments to DNA replication are known to induce gross chromosomal rearrangements (GCRs) and copy-number variations (CNVs). GCRs and CNVs underlie human genomic disorders and are a feature of cancer. During cancer development, environmental factors and oncogene-driven proliferation promote replication stress. Resulting GCRs and CNVs are proposed to contribute to cancer development and therapy resistance. Using an inducible system that arrests replication forks at a specific locus in fission yeast, chromosomal rearrangement was investigated. In this system, replication restart requires homologous recombination. However, it occurs at the expense of gross chromosomal rearrangements that occur by either faulty template usage at restart or after the correctly restarted fork U-turns at inverted repeats. Both these mechanisms of chromosomal rearrangement generate acentric and reciprocal dicentric chromosomes. The work in this thesis analyses the timing of replication restart and appearance of chromosomal rearrangements in a single cell cycle after induction of fork stalling. This research also identifies the recombination-dependent intermediates corresponding to the two pathways of rearrangements. Moreover, the DNA integrity checkpoint responses after replication fork arrest, homologous recombination dependent replication restart, and the accumulation of GCRs are investigated.
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Xia, Ai. "Comparative genomics of chromosomal rearrangements in malaria mosquitoes." Diss., Virginia Tech, 2010. http://hdl.handle.net/10919/37335.

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To better understand the evolutionary dynamics of chromosomal inversions, a physical map for an Asian malaria vector, Anopheles stephensi, was created and compared with the maps of the major African malaria vectors A. gambiae and A. funestus No interchromosomal transposition was observed between A. gambiae and A. stephensi. Several cases of euchromatin and heterochromatin transitions weridentified between A. gambiae and A. stephensi. The study of paracentric inversions between lineages in Anopheles mosquitoes demonstrated that X chromosome has the fastest rate of inversion fixations and highest density of repetitive elements. Among the autosomes, 2R evolved faster than other autosomes. The slowly evolved autosomes have more M/SARs than rapidly evolving arms. Breakpoint regions are enriched with repetitive elements. The study revealed that fixed inversions are distributed nonrandomly and breakpoint clustering is common in lineages of A. gambiae and A. stephensi. The parallel association between the density of inversion fixations and polymorphisms suggests that polymorphic inversions can be fixed during evolution. To understand the direction of evolution in A. gambiae complex, the ancestral status of fixed inversions for this complex was identified. The presence of the 2La inversion in outgroups, A. stephensi and A. nili, confirmed the ancestral status of the 2La inversion. The presences of breakpoint structure of the 2Ro inversion in outgroup species, A. stephensi, indicated that the 2Ro is ancestral arrangement. The presence of SINE elements at the breakpoints of the 2R+p in A. gambiae PEST strain suggested that the 2R+p is a derived arrangement. Therefore, the carrier of 2Rop inversions, A. merus, was considered closest to the ancestral species. We have developed a new protocol for laser microdissection and whole genome amplification of polytene chromosomal fragments to obtain DNA for sequencing and assembly. The chromosomal regions spanning both breakpoints of the 2La in A. arabiensis and A. merus were laser microdissected from the polytene chromosomes. Subsequently, DNA samples were amplified using Illustra GenomePhi V2 DNA and Whole-pool amplification methods for obtaining amplicons. Successful amplification of our target DNA was confirmed by PCR with specific primers followed by Sanger sequencing.
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Shuib, Salwati. "Molecular cytogenetics and genetic characterisation of chromosomal rearrangements." Thesis, University of Birmingham, 2011. http://etheses.bham.ac.uk//id/eprint/1339/.

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In this thesis I report three related studies that utilise state-of-the-art technologies to investigate germline and somatic chromosomal rearrangements in humans. Firstly, 16 patients with cytogenetically detectable deletions of 3p25-p26 were analysed with high density single nucleotide polymorphism (SNP) microarrays; Affymetrix 250K SNP microarrays (n=14) and Affymetrix SNP6.0 (n=2). Assuming complete penetrance, a critical region for congenitalheart disease (CHD) susceptibility gene was refined to approximately 200 kb and a candidate critical region for mental retardation was mapped to ~1 Mb interval containing SRGAP3. Secondly, I used SNP microarray and molecular cytogenetic studies to characterize chromosome 11p15 in 8 patients with the imprinting disorder Beckwith-Wiedemann syndrome (BWS). In addition to characterising 11p duplications in three patients, the breakpoints in two patients with balanced rearrangements were mapped to two distinct regions. Thirdly, I used high resolution SNP arrays (Affymetrix 250K Sty1 and 6.0 arrays) to identify copy number changes in renal cell carcinoma (RCC) primary tumours (n=81) and cell lines (n=23). Copy number changes most frequently involved large segments (>10Mb) and loss of 3p and gain of 5q were the most common copy number changes. A comparison of copy number changes in RCC cell lines and inherited and sporadic primary tumours was made.
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Glodjo, Armansa. "Numerical classification of chromosomal syndromes due to rearrangements of chromosome 3 in humans." Thesis, National Library of Canada = Bibliothèque nationale du Canada, 1999. http://www.collectionscanada.ca/obj/s4/f2/dsk2/ftp01/MQ41705.pdf.

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Kranjac, Tanja. "Balanced chromosomal translocations and chromosome 13 rearrangements in human breast cancer cell lines." Thesis, University of Cambridge, 2005. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.615205.

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Cattaneo, E. "Characterisation of chromosomal rearrangements in ERMS using molecular cytogenetics." Thesis, University of Cambridge, 2005. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.597372.

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Rhabdomyosarcoma (RMS) is the most common soft tissue sarcoma of childhood, and comprises a group of heterogeneous malignancies accounting for approximately 10% of all solid tumours in children under 15 years of age. It is a member of the small round blue cell tumours (SRBCT) family. Two main subtypes of RMS are recognised: embryonal (ERMS) and alveolar (ARMS). As is the case for many members of the SRBCT group, ARMS is characterised in 80% of cases by a specific chromosomal rearrangement [t(2;13)(q35;q14) or t(1;13)(p36;q14)] that gives rise to a fusion gene [PAX3/FOXO1A or PAX7/FOXO1A]. The fusion genes are believed to function as aberrant transcription factors. Characterisation of aberrant fusion proteins in human cancer has provided novel diagnostic and prognostic tools, and in some cases novel therapeutic strategies. To date no known cytogenetic abnormality characteristic of ERMS has been identified. This thesis reports the molecular cytogenetic investigation of nine ERMS cell lines (RD, 7763, CT10, RH36, YM, HX170, CCA, JR1, RUCH2) in an attempt to identify a consistent chromosomal aberration for ERMS, the most prevalent RMS subtype. Composite karyotypes of four cell lines (CCA, JR1, RUCH2 and RUCH3) were constructed following the application of an in house molecular cytogenetic screening protocol. A panel of nine ERMS cell line karyotypes was subsequently analysed from which chromosome 15 was revealed to be one of the most frequently rearranged chromosomes in ERMS. Detailed physical mapping of all breakpoints containing chromosome 15 in these nine cell lines suggested a number of genes potentially disrupted; but did not identify a consistent chromosomal aberration. A number of reciprocal chromosomal translocations were identified in the nine ERMS cell lines, and these were investigated in detail. A t(2;15)(q36;q11) in HX170 was noted to result in the disruption of PAX3, and may lead to the formation of a novel fusion gene in this cell line.
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Mena, Paulina Alejandra McAllister Bryant F. "The Role of chromosomal rearrangements in adaptation in Drosophila americana." Iowa City : University of Iowa, 2009. http://ir.uiowa.edu/etd/310.

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Mena, Paulina Alejandra. "The Role of chromosomal rearrangements in adaptation in Drosophila americana." Diss., University of Iowa, 2009. https://ir.uiowa.edu/etd/310.

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Natural environments expose organisms to multifarious selective pressures involving numerous aspects of the overall phenotype, therefore eliciting a response from multiple correlated loci. It has been hypothesized that chromosomal rearrangements can play a role in facilitating local adaptation by establishing new linkage relationships and modifying the recombination patterns between the different chromosomal forms, allowing coordinated adaptation of several loci. The central aim of the work presented here is to test this hypothesis using Drosophila americana as a model system. This species segregates several inversions and an X-4 centromeric fusion which makes it an excellent model to study the role of chromosomal rearrangements on local adaptation. This hypothesis was tested using several approaches. The geographic distribution of the chromosomal rearrangements was determined through sampling of wild populations from a broad geographic range. It was found that several of the chromosomal rearrangements exhibit clinal variation. Furthermore, many of these are found in high linkage disequilibrium. The X-4 fusion is highly associated with inversions on the X and 4th chromosome. Also, two inversions on chromosome 5 are in strong negative linkage disequilibrium. The sequence variation associated with rearrangements of the X was studied using inbred lines. The results show that the inversion and the fusion strongly influence variation on this chromosome. Regions of significant population differentiation and linkage with the rearrangements are found interspersed with loci showing neutral variation indicating that in spite of recombination, allelic associations are maintained on this chromosome. The analysis was also extended to flies directly collected from the wild sampled from a region encompassing a large part of the species' range. Loci throughout chromosome X and 4 were genotyped. Sites in high linkage disequilibrium with the rearrangements and with other assayed sites were found in close proximity with sites that did not show this pattern. In conclusion, the clinal distribution of chromosomal rearrangements and associated genetic variation in conjunction with the detection of islands of linkage disequilibrium among the rearrangements and loci on both chromosomes indicate that chromosomal rearrangements are facilitating local adaptation in D. americana.
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GANDHI, MANOJ SURESH. "ROLE OF NUCLEAR ORGANIZATION, GENE TOPOLOGY AND CHROMATIN ARCHITECTURE IN GENE REARRANGEMENTS." University of Cincinnati / OhioLINK, 2006. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1154967064.

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Mota, Merlo Marina. "Evolutionary evidence of chromosomal rearrangements through SNAP : Selection during Niche AdaPtation." Thesis, Uppsala universitet, Institutionen för biologisk grundutbildning, 2021. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-449171.

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The Selection during Niche AdaPtation (SNAP) hypothesis aims to explain how the gene order in bacterial chromosomes can change as the result of bacteria adapting to a new environment. It starts with a duplication of a chromosomal segment that includes some genes providing a fitness advantage. The duplication of these genes is preserved by positive selection. However, the rest of the duplicated segment accumulates mutations, including deletions. This results in a rearranged gene order. In this work, we develop a method to identify SNAP in bacterial chromosomes. The method was tested in Salmonella and Bartonella genomes. First, each gene was assigned an orthologous group (OG). For each genus, single-copy panorthologs (SCPos), the OGs that were present in most of the genomes as one copy, were targeted. If these SCPos were present twice or more in a genome, they were used to build duplicated regions within said genome. The resulting regions were visualized and their possible compatibility with the SNAP hypothesis was discussed. Even though the method proved to be effective on Bartonella genomes, it was less efficient on Salmonella. In addition, no strong evidence of SNAP was detected in Salmonella genomes.
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Books on the topic "Chromosomal rearrangements"

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Rowley, Janet D., Michelle M. Le Beau, and Terence H. Rabbitts, eds. Chromosomal Translocations and Genome Rearrangements in Cancer. Cham: Springer International Publishing, 2015. http://dx.doi.org/10.1007/978-3-319-19983-2.

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Horsley, Sharon Wendy. Characterisation of chromosome 16 rearrangements in patients with alpha thalassaemia. [Oxford]: Oxford Brookes University, 2000.

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Michael, Potter, Melchers F. 1936-, National Cancer Institute (U.S.), and Workshop on Mechanisms in B-Cell Neoplasia (12th : 1994 : Bethesda, Maryland ), eds. Mechanisms in B-cell neoplasia 1994: [12th workshop, Bethesda, MD, April 18-20, 1994]. Berlin: Springer-Verlag, 1995.

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McKinlay Gardner, R. J., and David J. Amor. Complex Chromosomal Rearrangements. Edited by R. J. McKinlay Gardner and David J. Amor. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199329007.003.0010.

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Complex chromosome rearrangements (CCRs) include most of the rearrangements that would not be accounted for as “straightforward” classical categories. They may be translocations with three or more segments involved; or they may comprise a mix of translocation and, for example, inversion. Some can be extraordinarily complex. CCRs are classified as types I–IV, most falling into the “least complex” type I category, while types II–IV are grouped as “exceptional CCRs.” Many unbalanced CCRs have arisen de novo and imply no increased reproductive risk. The identification of the clinically normal balanced CCR carrier is less frequent, and for these people, the reproductive risks can be very high.
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McKinlay Gardner, R. J., and David J. Amor. Centromere Fissions, Complementary Isochromosomes, Telomeric Fusions, Balancing Supernumerary Chromosomes, Neocentromeres, Jumping Translocations, and Chromothripsis. Edited by R. J. McKinlay Gardner and David J. Amor. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199329007.003.0012.

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This chapter reviews a number of very rare chromosomal rearrangements: centromere fissions, complementary isochromosomes, telomeric fusions, balancing supernumerary chromosomes, neocentromeres, jumping translocations, and chromothripsis. Centromere fission results when a metacentric or submetacentric chromosome splits at the centromere, giving rise to two stable telocentric products. The Robertsonian fission reverses the fusion that had originally generated it. Telomeric fusion leads to a 45-chromosome count. With the balanced complementary isochromosome carrier, two stable exactly metacentric products are generated. A balancing small supernumerary marker chromosome contains material deleted from the normal homolog. A supernumerary chromosome lacking a normal centromere can become stable and functional due to the generation of a neocentromere. In jumping translocations, a segment can move from one chromosome to two or more recipient chromosomes. Chromothripsis takes complex rearrangement to a yet more complex level. The reproductive risks associated with each are noted.
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Rowley, Janet D., Michelle M. Le Beau, and Terence H. Rabbitts. Chromosomal Translocations and Genome Rearrangements in Cancer. Springer, 2015.

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Rowley, Janet D., Michelle M. Le Beau, and Terence H. Rabbitts. Chromosomal Translocations and Genome Rearrangements in Cancer. Springer, 2019.

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Rowley, Janet D., Michelle M. Le Beau, and Terence H. Rabbitts. Chromosomal Translocations and Genome Rearrangements in Cancer. Springer London, Limited, 2015.

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Tentler, Dmitry. Cytogenetic & Molecular Analysis of Chromosomal Rearrangements Associated With Neuropsychiatric Disorders. Uppsala Universitet, 2001.

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McKinlay Gardner, R. J., and David J. Amor. Sex Chromosome Aneuploidy and Structural Rearrangement. Edited by R. J. McKinlay Gardner and David J. Amor. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199329007.003.0015.

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There are four major sex chromosome abnormalities due to complete aneuploidy. Otherwise unassisted, infertility is practically inevitable in XXY Klinefelter syndrome and 45,X Turner syndrome. The other two conditions, XXX and XYY, apparently have little effect on fertility; furthermore, they are not discernibly associated with any increased risk for chromosomally abnormal offspring. This chapter first discusses these classic pure sex chromosomal aneuploidies. Then, deletion/duplication states of the X and Y chromosomes are reviewed, whether large and known since classical cytogenetics, or those only having come to light due to the power of twenty-first century molecular karyotyping. Recurrence risks are considered both for those who (if fertile, naturally or via in vitro fertilization) might themselves have such an abnormality, and for normal parents having had an affected child.
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Book chapters on the topic "Chromosomal rearrangements"

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Weinstock, George M., and James R. Lupski. "Chromosomal Rearrangements." In Bacterial Genomes, 112–18. Boston, MA: Springer US, 1998. http://dx.doi.org/10.1007/978-1-4615-6369-3_11.

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Zhao, Hao, and Guillaume Bourque. "Chromosomal Rearrangements in Evolution." In Evolutionary Genomics and Systems Biology, 165–82. Hoboken, NJ, USA: John Wiley & Sons, Inc., 2010. http://dx.doi.org/10.1002/9780470570418.ch9.

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Choi, Kwang-Wook. "Recombination and Chromosomal Rearrangements." In KAIST Research Series, 39–66. Singapore: Springer Nature Singapore, 2024. http://dx.doi.org/10.1007/978-981-97-0830-7_3.

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Hamanoue, Haruka. "Genetic Counseling: Chromosomal Structural Rearrangements." In Fetal Morph Functional Diagnosis, 271–96. Singapore: Springer Singapore, 2020. http://dx.doi.org/10.1007/978-981-15-8171-7_21.

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Mano, Hiroyuki. "Chromosomal Translocations in Lung Cancer." In Chromosomal Translocations and Genome Rearrangements in Cancer, 403–16. Cham: Springer International Publishing, 2015. http://dx.doi.org/10.1007/978-3-319-19983-2_18.

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Frock, Richard L., Jiazhi Hu, and Frederick W. Alt. "Mechanisms of Recurrent Chromosomal Translocations." In Chromosomal Translocations and Genome Rearrangements in Cancer, 27–51. Cham: Springer International Publishing, 2015. http://dx.doi.org/10.1007/978-3-319-19983-2_3.

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Auger, Donald L., and William F. Sheridan. "Plant Chromosomal Deletions, Insertions, and Rearrangements." In Plant Cytogenetics, 3–36. New York, NY: Springer New York, 2011. http://dx.doi.org/10.1007/978-0-387-70869-0_1.

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Jiang, Yanwen, Isabelle Lucas, and Michelle M. Le Beau. "Common Chromosomal Fragile Sites and Cancer." In Chromosomal Translocations and Genome Rearrangements in Cancer, 73–94. Cham: Springer International Publishing, 2015. http://dx.doi.org/10.1007/978-3-319-19983-2_5.

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Fangazio, Marco, Laura Pasqualucci, and Riccardo Dalla-Favera. "Chromosomal Translocations in B Cell Lymphomas." In Chromosomal Translocations and Genome Rearrangements in Cancer, 157–88. Cham: Springer International Publishing, 2015. http://dx.doi.org/10.1007/978-3-319-19983-2_9.

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Liehr, Thomas. "Small Supernumerary Marker Chromosomes Additionally to Other Chromosomal Rearrangements." In Small Supernumerary Marker Chromosomes (sSMC), 175–78. Berlin, Heidelberg: Springer Berlin Heidelberg, 2011. http://dx.doi.org/10.1007/978-3-642-20766-2_9.

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Conference papers on the topic "Chromosomal rearrangements"

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"Simulating of 3D genome data with predefined chromosomal rearrangements." In Bioinformatics of Genome Regulation and Structure/Systems Biology (BGRS/SB-2022) :. Institute of Cytology and Genetics, the Siberian Branch of the Russian Academy of Sciences, 2022. http://dx.doi.org/10.18699/sbb-2022-062.

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Gao, Xiaobin, Jianhui Wang, Jinglan Wang, Lynnette Tumwine, and Jeffrey Sklar. "Abstract 627: Detection of chromosomal rearrangements in clinical tissue samples by chromosome conformation capture." In Proceedings: AACR 106th Annual Meeting 2015; April 18-22, 2015; Philadelphia, PA. American Association for Cancer Research, 2015. http://dx.doi.org/10.1158/1538-7445.am2015-627.

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Kozyreva, S. Yu, M. M. Gridina, A. A. Torgasheva, V. S. Fishman, K. S. Zadesenets, and L. P. Malinovskaya. "DISSECTING THE STRUCTURE OF THE CHROMOSOMAL REARRANGEMENTS IN CHROMOSOME 1A IN GREAT TITS (PARUS MAJOR) USING HI-C TECHNIQUE." In OpenBio-2023. ИПЦ НГУ, 2023. http://dx.doi.org/10.25205/978-5-4437-1526-1-21.

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Polymorphism caused by complex rearrangement on chromosome 1A has been identified in the population of the Great Tit (Parus major). Сhromosomal rearrangement involves large inversion and regions with copy number variations, potentially spanning around 3.5 Mb. Using Hi-C technique we determined the inversion breakpoints with an accuracy of 1000 bp and developed an approach that allowed to discover additional 15 Mb of genomic sequences in the rearranged chromosome.
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Stolle, Eckart. "Super-scaffolding the fire ant genome and detection of chromosomal rearrangements." In 2016 International Congress of Entomology. Entomological Society of America, 2016. http://dx.doi.org/10.1603/ice.2016.109192.

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"Chromosome synapsis and recombination in intraspecific and interspecific heterozygotes for chromosomal rearrangements in voles of the genus Alexandromys." In Bioinformatics of Genome Regulation and Structure/Systems Biology (BGRS/SB-2022) :. Institute of Cytology and Genetics, the Siberian Branch of the Russian Academy of Sciences, 2022. http://dx.doi.org/10.18699/sbb-2022-384.

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Leeman-Neill, Rebecca J., Alina J. Brenner, Mark P. Little, Tetiana Bogdanova, Maureen Hatch, Kiyohiko Mabuchi, Mykola Tronko, and Yuri E. Nikiforov. "Abstract 3599: Prevalance and spectrum of chromosomal rearrangements in post-Chernobyl thyroid cancer." In Proceedings: AACR 104th Annual Meeting 2013; Apr 6-10, 2013; Washington, DC. American Association for Cancer Research, 2013. http://dx.doi.org/10.1158/1538-7445.am2013-3599.

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Sarvilinna, Nanna, Barun Pradhan, Imrul Faisal, Manuela Tumiati, Amjad Alkodsi, and Liisa Kauppi. "Abstract GMM-050: IDENTIFICATION OF NOVEL CHROMOSOMAL REARRANGEMENTS IN HIGH-GRADE SEROUS OVARIAN CANCER." In Abstracts: 12th Biennial Ovarian Cancer Research Symposium; September 13-15, 2018; Seattle, Washington. American Association for Cancer Research, 2019. http://dx.doi.org/10.1158/1557-3265.ovcasymp18-gmm-050.

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Harris, Faye R., Irina Kovtun, James Smadbeck, Francesco Multinu, Aminah Jatoi, Kimberly R. Kalli, Stephen J. Murphy, et al. "Abstract 440: Quantification of somatic chromosomal rearrangements in circulating cell-free DNA from ovarian cancers." In Proceedings: AACR 107th Annual Meeting 2016; April 16-20, 2016; New Orleans, LA. American Association for Cancer Research, 2016. http://dx.doi.org/10.1158/1538-7445.am2016-440.

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Stark, Jeremy M. "Abstract IA-008: Etiology of chromosomal rearrangements, and other DNA double-strand break repair outcomes." In Abstracts: AACR Virtual Special Conference on Radiation Science and Medicine; March 2-3, 2021. American Association for Cancer Research, 2021. http://dx.doi.org/10.1158/1557-3265.radsci21-ia-008.

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Feldman, Andrew L., Laszlo J. Karai, Marshall E. Kadin, Eric D. Hsi, Jason C. Sluzevich, Rhett P. Ketterling, and Ryan A. Knudson. "Abstract 1208: Discovery of a previously undescribed cutaneous T-cell neoplasm with chromosomal rearrangements of 6p25.3." In Proceedings: AACR 104th Annual Meeting 2013; Apr 6-10, 2013; Washington, DC. American Association for Cancer Research, 2013. http://dx.doi.org/10.1158/1538-7445.am2013-1208.

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Reports on the topic "Chromosomal rearrangements"

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O'Brien, Benjamin, Gregg H. Jossart, Yuko Ito, Karin M. Greulich-Bode, Jingly F. Weier, Santiago Munne, Orlo H. Clark, and Heinz-Ulrich G. Weier. Chromosomal Rainbows detect Oncogenic Rearrangements of Signaling Molecules in Thyroid Tumors. Office of Scientific and Technical Information (OSTI), August 2010. http://dx.doi.org/10.2172/1011038.

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Kwan, Johnson, Adolf Baumgartner, Chun-Mei Lu, Mei Wang, Jingly F. Weier, Horst F. Zitzelsberger, and Heinz-Ulrich G. Weier. BAC-FISH assays delineate complex chromosomal rearrangements in a case of post-Chernobyl childhood thyroid cancer. Office of Scientific and Technical Information (OSTI), March 2009. http://dx.doi.org/10.2172/983040.

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Weier, Heinz-Ulrich, Johnson Kwan, Chun-Mei Lu, Yuko Ito, Mei Wang, Adolf Baumgartner, Simon W. Hayward, Jingly F. Weier, and Horst F. Zitzelsberger. Kinase Expression and Chromosomal Rearrangements in Papillary Thyroid Cancer Tissues: Investigations at the Molecular and Microscopic Levels. Office of Scientific and Technical Information (OSTI), July 2009. http://dx.doi.org/10.2172/983010.

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Jinks-Robertson, Sue. Genetic Recombination and Chromosome Rearrangements. Final Report. Office of Scientific and Technical Information (OSTI), October 1999. http://dx.doi.org/10.2172/763990.

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Jinks-Robertson, Sue. FASEB Summer Research Conference. Genetic Recombination and Chromosome Rearrangements. Office of Scientific and Technical Information (OSTI), February 2002. http://dx.doi.org/10.2172/805063.

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Weier, Heinz-Ulrich G., Karin M. Greulich-Bode, Jenny Wu, and Thomas Duell. Delineating Rearrangements in Single Yeast Artificial Chromosomes by Quantitative DNA Fiber Mapping. Office of Scientific and Technical Information (OSTI), September 2009. http://dx.doi.org/10.2172/982923.

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Haber, J. E. FASEB summer research conference on genetic recombination and chromosome rearrangement. Final report. Office of Scientific and Technical Information (OSTI), March 1998. http://dx.doi.org/10.2172/763942.

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