Academic literature on the topic 'Genome Compaction'
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Journal articles on the topic "Genome Compaction"
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Cabrera, Julio E., Cedric Cagliero, Selwyn Quan, Catherine L. Squires, and Ding Jun Jin. "Active Transcription of rRNA Operons Condenses the Nucleoid in Escherichia coli: Examining the Effect of Transcription on Nucleoid Structure in the Absence of Transertion." Journal of Bacteriology 191, no. 13 (April 24, 2009): 4180–85. http://dx.doi.org/10.1128/jb.01707-08.
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ABSTRACT In Escherichia coli the genome must be compacted ∼1,000-fold to be contained in a cellular structure termed the nucleoid. It is proposed that the structure of the nucleoid is determined by a balance of multiple compaction forces and one major expansion force. The latter is mediated by transertion, a coupling of transcription, translation, and translocation of nascent membrane proteins and/or exported proteins. In supporting this notion, it has been shown consistently that inhibition of transertion by the translation inhibitor chloramphenicol results in nucleoid condensation due to the compaction forces that remain active in the cell. Our previous study showed that during optimal growth, RNA polymerase is concentrated into transcription foci or “factories,” analogous to the eukaryotic nucleolus, indicating that transcription and RNA polymerase distribution affect the nucleoid structure. However, the interpretation of the role of transcription in the structure of the nucleoid is complicated by the fact that transcription is implicated in both compacting forces and the expansion force. In this work, we used a new approach to further examine the effect of transcription, specifically from rRNA operons, on the structure of the nucleoid, when the major expansion force was eliminated. Our results showed that transcription is necessary for the chloramphenicol-induced nucleoid compaction. Further, an active transcription from multiple rRNA operons in chromosome is critical for the compaction of nucleoid induced by inhibition of translation. All together, our data demonstrated that transcription of rRNA operons is a key mechanism affecting genome compaction and nucleoid structure.
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McLysaght, Aoife, Anton J. Enright, Lucy Skrabanek, and Kenneth H. Wolfe. "Estimation of Synteny Conservation and Genome Compaction Between Pufferfish (Fugu) and Human." Yeast 1, no. 1 (2000): 22–36. http://dx.doi.org/10.1002/(sici)1097-0061(200004)17:1<22::aid-yea5>3.0.co;2-s.
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Background: Knowledge of the amount of gene order and synteny conservation between two species gives insights to the extent and mechanisms of divergence. The vertebrateFugu rubripes(pufferfish) has a small genome with little repetitive sequence which makes it attractive as a model genome. Genome compaction and synteny conservation between human andFuguwere studied using data from public databases.Methods: Intron length and map positions of human andFuguorthologues were compared to analyse relative genome compaction and synteny conservation respectivley. The divergence of these two genomes by genome rearrangement was simulated and the results were compared to the real data.Results: Analysis of 199 introns in 22 orthologous genes showed an eight-fold average size reduction inFugu, consistent with the ratio of total genome sizes. There was no consistent pattern relating the size reduction in individual introns or genes to gene base composition in either species. For genes that are neighbours inFugu(genes from the same cosmid or GenBank entry), 40–50% have conserved synteny with a human chromosome. This figure may be underestimated by as much as two-fold, due to problems caused by incomplete human genome sequence data and the existence of dispersed gene families. Some genes that are neighbours inFuguhave human orthologues that are several megabases and tens of genes apart. This is probably caused by small inversions or other intrachromosomal rearrangements.Conclusions: Comparison of observed data to computer simulations suggests that 4000–16 000 chromosomal rearrangements have occured sinceFuguand human shared a common ancestor, implying a faster rate of rearrangement than seen in human/mouse comparisons.
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Slamovits, Claudio H., Naomi M. Fast, Joyce S. Law, and Patrick J. Keeling. "Genome Compaction and Stability in Microsporidian Intracellular Parasites." Current Biology 14, no. 10 (May 2004): 891–96. http://dx.doi.org/10.1016/j.cub.2004.04.041.
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McLysaght, Aoife, Anton J. Enright, Lucy Skrabanek, and Kenneth H. Wolfe. "Estimation of Synteny Conservation and Genome Compaction Between Pufferfish (Fugu) and Human." Yeast 1, no. 1 (January 1, 2000): 22–36. http://dx.doi.org/10.1155/2000/234298.
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Background: Knowledge of the amount of gene order and synteny conservation between two species gives insights to the extent and mechanisms of divergence. The vertebrate Fugu rubripes (pufferfish) has a small genome with little repetitive sequence which makes it attractive as a model genome. Genome compaction and synteny conservation between human and Fugu were studied using data from public databases.Methods: Intron length and map positions of human and Fugu orthologues were compared to analyse relative genome compaction and synteny conservation respectivley. The divergence of these two genomes by genome rearrangement was simulated and the results were compared to the real data.Results: Analysis of 199 introns in 22 orthologous genes showed an eight-fold average size reduction in Fugu, consistent with the ratio of total genome sizes. There was no consistent pattern relating the size reduction in individual introns or genes to gene base composition in either species. For genes that are neighbours in Fugu (genes from the same cosmid or GenBank entry), 40–50% have conserved synteny with a human chromosome. This figure may be underestimated by as much as two-fold, due to problems caused by incomplete human genome sequence data and the existence of dispersed gene families. Some genes that are neighbours in Fugu have human orthologues that are several megabases and tens of genes apart. This is probably caused by small inversions or other intrachromosomal rearrangements.Conclusions: Comparison of observed data to computer simulations suggests that 4000–16 000 chromosomal rearrangements have occured since Fugu and human shared a common ancestor, implying a faster rate of rearrangement than seen in human/mouse comparisons.
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Brahmachari, Sumitabha, and John F. Marko. "Chromosome disentanglement driven via optimal compaction of loop-extruded brush structures." Proceedings of the National Academy of Sciences 116, no. 50 (November 22, 2019): 24956–65. http://dx.doi.org/10.1073/pnas.1906355116.
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Eukaryote cell division features a chromosome compaction–decompaction cycle that is synchronized with their physical and topological segregation. It has been proposed that lengthwise compaction of chromatin into mitotic chromosomes via loop extrusion underlies the compaction-segregation/resolution process. We analyze this disentanglement scheme via considering the chromosome to be a succession of DNA/chromatin loops—a polymer “brush”—where active extrusion of loops controls the brush structure. Given type-II DNA topoisomerase (Topo II)-catalyzed topology fluctuations, we find that interchromosome entanglements are minimized for a certain “optimal” loop that scales with the chromosome size. The optimal loop organization is in accord with experimental data across species, suggesting an important structural role of genomic loops in maintaining a less entangled genome. Application of the model to the interphase genome indicates that active loop extrusion can maintain a level of chromosome compaction with suppressed entanglements; the transition to the metaphase state requires higher lengthwise compaction and drives complete topological segregation. Optimized genomic loops may provide a means for evolutionary propagation of gene-expression patterns while simultaneously maintaining a disentangled genome. We also find that compact metaphase chromosomes have a densely packed core along their cylindrical axes that explains their observed mechanical stiffness. Our model connects chromosome structural reorganization to topological resolution through the cell cycle and highlights a mechanism of directing Topo II-mediated strand passage via loop extrusion-driven lengthwise compaction.
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Kaufman, Brett A., Nela Durisic, Jeffrey M. Mativetsky, Santiago Costantino, Mark A. Hancock, Peter Grutter, and Eric A. Shoubridge. "The Mitochondrial Transcription Factor TFAM Coordinates the Assembly of Multiple DNA Molecules into Nucleoid-like Structures." Molecular Biology of the Cell 18, no. 9 (September 2007): 3225–36. http://dx.doi.org/10.1091/mbc.e07-05-0404.
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Packaging DNA into condensed structures is integral to the transmission of genomes. The mammalian mitochondrial genome (mtDNA) is a high copy, maternally inherited genome in which mutations cause a variety of multisystem disorders. In all eukaryotic cells, multiple mtDNAs are packaged with protein into spheroid bodies called nucleoids, which are the fundamental units of mtDNA segregation. The mechanism of nucleoid formation, however, remains unknown. Here, we show that the mitochondrial transcription factor TFAM, an abundant and highly conserved High Mobility Group box protein, binds DNA cooperatively with nanomolar affinity as a homodimer and that it is capable of coordinating and fully compacting several DNA molecules together to form spheroid structures. We use noncontact atomic force microscopy, which achieves near cryo-electron microscope resolution, to reveal the structural details of protein–DNA compaction intermediates. The formation of these complexes involves the bending of the DNA backbone, and DNA loop formation, followed by the filling in of proximal available DNA sites until the DNA is compacted. These results indicate that TFAM alone is sufficient to organize mitochondrial chromatin and provide a mechanism for nucleoid formation.
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Guttula, Durgarao, Fan Liu, Jeroen A. van Kan, Véronique Arluison, and Johan R. C. van der Maarel. "Effect of HU protein on the conformation and compaction of DNA in a nanochannel." Soft Matter 14, no. 12 (2018): 2322–28. http://dx.doi.org/10.1039/c7sm02118f.
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Jiang, Kai, Nicolas Humbert, Sriram K.K., Ioulia Rouzina, Yves Mely, and Fredrik Westerlund. "The HIV-1 nucleocapsid chaperone protein forms locally compacted globules on long double-stranded DNA." Nucleic Acids Research 49, no. 8 (April 19, 2021): 4550–63. http://dx.doi.org/10.1093/nar/gkab236.
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Abstract The nucleocapsid (NC) protein plays key roles in Human Immunodeficiency Virus 1 (HIV-1) replication, notably by condensing and protecting the viral RNA genome and by chaperoning its reverse transcription into double-stranded DNA (dsDNA). Recent findings suggest that integration of viral dsDNA into the host genome, and hence productive infection, is linked to a small subpopulation of viral complexes where reverse transcription was completed within the intact capsid. Therefore, the synthesized dsDNA has to be tightly compacted, most likely by NC, to prevent breaking of the capsid in these complexes. To investigate NC’s ability to compact viral dsDNA, we here characterize the compaction of single dsDNA molecules under unsaturated NC binding conditions using nanofluidic channels. Compaction is shown to result from accumulation of NC at one or few compaction sites, which leads to small dsDNA condensates. NC preferentially initiates compaction at flexible regions along the dsDNA, such as AT-rich regions and DNA ends. Upon further NC binding, these condensates develop into a globular state containing the whole dsDNA molecule. These findings support NC’s role in viral dsDNA compaction within the mature HIV-1 capsid and suggest a possible scenario for the gradual dsDNA decondensation upon capsid uncoating and NC loss.
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Kwon, Sunyoung, Byunghan Lee, Seunghyun Park, Jeonghee Jo, and Sungroh Yoon. "The Analysis of Genome Database Compaction based on Sequence Similarity." KIISE Transactions on Computing Practices 23, no. 4 (April 15, 2017): 250–55. http://dx.doi.org/10.5626/ktcp.2017.23.4.250.
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Machín, Félix, Jordi Torres-Rosell, Adam Jarmuz, and Luis Aragón. "Spindle-independent condensation-mediated segregation of yeast ribosomal DNA in late anaphase." Journal of Cell Biology 168, no. 2 (January 17, 2005): 209–19. http://dx.doi.org/10.1083/jcb.200408087.
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Mitotic cell division involves the equal segregation of all chromosomes during anaphase. The presence of ribosomal DNA (rDNA) repeats on the right arm of chromosome XII makes it the longest in the budding yeast genome. Previously, we identified a stage during yeast anaphase when rDNA is stretched across the mother and daughter cells. Here, we show that resolution of sister rDNAs is achieved by unzipping of the locus from its centromere-proximal to centromere-distal regions. We then demonstrate that during this stretched stage sister rDNA arrays are neither compacted nor segregated despite being largely resolved from each other. Surprisingly, we find that rDNA segregation after this period no longer requires spindles but instead involves Cdc14-dependent rDNA axial compaction. These results demonstrate that chromosome resolution is not simply a consequence of compacting chromosome arms and that overall rDNA compaction is necessary to mediate the segregation of the long arm of chromosome XII.
Dissertations / Theses on the topic "Genome Compaction"
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Riedmann, Caitlyn M. "THE DYNAMIC NATURE OF CHROMATIN." UKnowledge, 2017. http://uknowledge.uky.edu/biochem_etds/31.
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Eukaryotic organisms contain their entire genome in the nucleus of their cells. In order to fit within the nucleus, genomic DNA wraps into nucleosomes, the basic, repeating unit of chromatin. Nucleosomes wrap around each other to form higher order chromatin structures. Here we study many factors that affect, or are effected by, chromatin structure including: (1) how low-dose inorganic arsenic (iAs) changes chromatin structures and their relation to global transcription and splicing patterns, and (2) how chromatin architectural proteins (CAPs) bind to and change nucleosome dynamics and DNA target site accessibility.
Despite iAs’s non-mutagenic nature, chronic exposure to low doses of iAs is associated with a higher risk of skin, lung, and bladder cancers. We sought to identify the genome-wide changes to chromatin structure and splicing profiles behind the cell’s adaptive response to iAs and its removal. Furthermore, we extended our investigation into cells that had the iAs insult removed. Our results show that the iAs-induced epithelial to mesenchymal transition and changes to the transcriptome are coupled with changes to the higher order chromatin structure and CAP binding patterns. We hypothesize that CAPs, which bind the entry/exit and linker DNA of nucleosomes, regulate DNA target site accessibility by altering of the rate of spontaneous dissociation of DNA from nucleosome.
Therefore, we investigated the effects of the repressive CAP histone H1, the activating CAP high mobility group D1 (HMGD1), and the neural CAP methyl CpG binding protein 2 (MeCP2) on the dynamics of short chromatin arrays and mononucleosomes and their effect on nucleosomal DNA accessibility. Using biochemical and biophysical analyses we show that all CAP-chromatin structures tested were susceptible to chromatin remodeling by ISWI and created more stable higher order structures than if CAPs were absent. Additionally, histone H1 and MeCP2 hinder model transcription factor Gal4 from binding its cognate DNA site within nucleosomal DNA.
Overall, we show that chromatin structure is dynamic and changes in response to environmental signals and that CAPs change nucleosome dynamics that help to regulate chromatin structures and impact transcriptional profiles.
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Boteva, Lora. "Investigating transcription, replication and chromatin structure in determining common fragile site instability." Thesis, University of Edinburgh, 2017. http://hdl.handle.net/1842/28803.
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Common fragile sites are a set of genomic locations with a propensity to form lesions, breaks and gaps on mitotic chromosomes upon induction of replication stress. While the exact reasons for their fragility are unknown, CFS display instability in a cell-type specific manner, suggesting a substantial contribution from an epigenetic component. CFSs also overlap with sites of increased breakage and deletions in tumour cells, as well as evolutionary breakpoints, implying that their features shape genome stability in vivo. Previously, factors such as delays in replication timing, low origin density and transcription of long genes have been implicated in instability at CFS locations but comprehensive molecular studies are lacking. Chromatin structure, an important factor that fits the profile of cell-type specific contributor, has also not been investigated yet. Throughout their efforts to determine the factors that lead to the appearance of CFS lesions, investigators have focused on a single component at a time, potentially missing out complex interactions between cellular processes that could underlie fragility. Additional difficulties come from the cell-type specificity of CFS breakage: it indicates that only cell type-matched data would be informative, limiting the scope for studies using publicly available data. To perform a comprehensive study defining the role of different factors in determining CFS fragility, I explored replication timing, transcriptional landscapes and chromatin environment across a number of CFSs in two cell types exhibiting differential CFS breakage. Initially, I characterised the patterns of CFS fragility in the two cell types on both the cytogenetic and the molecular level. I then used a FISH-based technique to investigate the process of mitotic compaction at active CFS sites and found that the cytogenetically fragile core of these sites sits within larger regions which display a tendency to mis-fold in mitosis. The aberrant compaction of these regions could be observed on cytogenetically normal metaphase chromosomes, suggesting that finer scale abnormalities in chromosome structure underlie the cytogenetically visible breaks at fragile sites. I also investigated the links between transcription of long genes and CFS fragility using two approaches: I quantified levels of expression across all fragile sites using RNA-seq and modified transcription at a single active CFS using the CRISPR genome engineering methodology. My results indicate a complex interplay between transcription and CFS fragility: no simple linear correlation can be observed, but an increase of transcriptional levels at the active CFS led to a corresponding increase in fragility. To investigate the influence of the cell type specific replication programme and replication stress on CFS instability, I mapped replication timing genome-wide in unperturbed cells and under conditions of replication stress in both cell types. I found that replication stress induces bi-directional changes in replication timing throughout the genome as well as at CFS regions. Surprisingly, the genomic regions showing the most extreme replication timing alterations under replication stress do not overlap with CFS, implying that CFS instability is not fully explained by replication delays as previously suggested. Instead, I observed a range of replication-stress induced timing changes across CFS regions: while some CFSs appear under-replicated, others display switches to both earlier and later replication as well as differential recruitment of both early and late origins, implying that dis-regulation of replication timing and origin firing, rather than simply delays, underlie the sensitivity to CFS regions to replication stress. Finally, I investigated large-scale chromatin states at two active CFSs throughout S phase and into G2, the cell cycle stages most relevant stage for CFS breakage. I found that changes in large-scale chromatin architecture accompany the replication timing shifts triggered by replication stress, raising the possibility that such alterations contribute to instability. In conclusion, I assessed the influence of multiple relevant factors on CFS fragility. I found that bi-directional replication timing changes and alterations in interphase chromatin structure are likely to play a role, converging to promote mitotic folding problems which ultimately result in the well-described cytogenetic lesions on metaphase chromosomes and genomic instability.
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Bezerra, Juliana Galv?o. "Rearranjos cromoss?micos, evolu??o gen?mica e diversifica??o cariot?pica em tetradontiformes." PROGRAMA DE P?S-GRADUA??O EM SISTEM?TICA E EVOLU??O, 2016. https://repositorio.ufrn.br/jspui/handle/123456789/22151.
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Coordena??o de Aperfei?oamento de Pessoal de N?vel Superior (CAPES)
A ordem Tetraodontiformes se destaca por exibir caracter?sticas morfol?gicas e gen?ticas bastante singulares, representando um dos principais ramos derivados da diversifica??o dos tele?steos. Alguns dos seus grupos constituem os vertebrados com os genomas mais compactos, qualificando-os como modelo de estudo da evolu??o do genoma. Esta caracter?stica gen?mica parece ser o resultado de perdas evolutivas de DNA. Com vistas a realizar compara??es citogen?micas entre esp?cies de alguns grupos de Tetraodontiformes foram realizadas an?lises citogen?ticas nas esp?cies Cantherhines pullus e Monacanthus chinensis (Monacanthidae), Sphoeroides testudineus (Tetraodontidae) e Melichthys N?ger (Balistidae). As an?lises foram ralizadas utilizando as metodologias cl?ssicas (colora??o pelo Giemsa, bandamento C, Ag-RONs), colora??o com fluorocromos base-espec?ficos e mapeamento cromoss?mico atrav?s da hibrida??o in situ fluorescente (FISH) de sequ?ncias ribossomais 18S e 5S e telom?ricas. As esp?cies C. pullus e M. niger revelaram cari?tipos compostos de 40 cromossomos, todos acroc?ntricos. Ambas possuem apenas um par de RONs e heterocromatinas, em maior parte, pericentrom?ricas, contudo, o mapeamento de sequ?ncias telom?ricas em C. pullus mostrou marca??es telom?ricas intersticiais, resultado da din?mica de rearranjos cromoss?micos que ocorre no grupo. Compara??es citogen?ticas entre as esp?cies S. testudineus (2n=46; NF=74) e M. chinensis (2n=34; NF=34) revelaram cari?tipos d?spares em rela??o ao n?mero diploide e de bra?os cromoss?micos, bem como quanto ao diminuto tamanho dos cromossomos de S. testudineus, em rela??o ao grandes cromossomos acroc?ntricos presentes em M. chinensis. A marcante diverg?ncia no tamanho dos cromossomos, estrutura cariot?pica e distribui??o de heterocromatina evidencia a elevada din?mica cromoss?mica e as m?ltiplas tend?ncias carioevolutivas presentes em Tetraodontiformes. Em vista do interesse sobre a evolu??o gen?mica na ordem, novas contribui??es ao conhecimento dos seus genomas e cari?tipos s?o fornecidos e discutidos sob perspectivas citogen?micas e evolutivas.
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Hanna, Roy. "BMI1 mediated heterochromatin compaction represses G-quadruplex formation in Alzheimer's disease." Thesis, 2020. http://hdl.handle.net/1866/24839.
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La maladie d'Alzheimer (MA) est la démence la plus importante dans le monde développé. Cette maladie neurodégénérative rend de plus en plus difficile la capacité d'accomplir les tâches quotidiennes de routine, elle peut également faire oublier les mots aux patients, les désorienter dans le temps et l'espace, et à des stades avancés entraîne une perte de mémoire. Malheureusement, la MA est considérée comme le prochain grand défi pour la santé publique de la plupart des pays, le nombre de cas devant doubler au cours des 20 prochaines années en raison du vieillissement de la population. Cette augmentation du nombre de patients s'accompagne d'une augmentation des besoins de financement et de personnel de santé afin de répondre aux demandes et aux besoins de ces patients. La MA peut être divisée en deux entités distinctes: une maladie héréditaire bien définie et bien comprise qui représente jusqu'à 5% de tous les cas de MA appelés maladie d'Alzheimer familiale, et une maladie moins définie appelée maladie d'Alzheimer sporadique. Le facteur de risque le plus défini pour la MA est l'âge, mais récemment, il a été démontré que le cerveau des patients atteints de MA avait un niveau réduit de BMI1 et que la suppression de BMI1 dans les neurones humains ou chez la souris déclenche les caractéristiques de cette maladie.
Alors que BMI1 était connu pour être important dans les stades de développement, nous rapportons ici qu'il est crucial dans les cellules adultes pour maintenir la compaction de la chromatine et l’inhibition de la transcription des séquences répétitives. De plus, ces deux fonctions de BMI1 empêchent l'ADN d'acquérir une conformation G4. Cette conformation peut entraîner une instabilité du génome, une augmentation des dommages à l'ADN et une altération de l'expression des gènes, mais surtout, nous avons montré que dans les neurones corticaux, les structures G4 peuvent influencer l'épissage alternatif de divers gènes, notamment APP. Ces résultats apportent un éclairage nouveau sur l'origine de la maladie et l'importance de BMI1 et de la structure secondaire de l'ADN dans le cadre de la MA.Alzheimer's disease is the most prominent dementia in the developed world. This neurodegenerative disease renders the ability to do the routine daily tasks more and more difficult; it can also cause patients to forget words, be disoriented in time and space, leading to a memory loss. Unfortunately, AD is considered the next big challenge for most country’s public health, with the number of cases thought to be doubling within the next 20 years due to the aging of the population. This increase in the number of patients comes with an increase in the need for funding and for healthcare personnel to meet the demands and the requirements of these patients. AD is divided into two separate entities: a well-defined and understood hereditary disease that makes up to 5% of all AD cases called familial Alzheimer disease, and a less defined one called sporadic Alzheimer disease. sAD most defined risk factor is age, but recently it was shown that brains of sAD patients had a reduced level of BMI1 and that the knockdown of BMI1 in human neurons or mice triggers the hallmarks of this disease. While BMI1 was known to be important in the developmental stages, we report here that it is crucial in adult cells to maintain the compaction of the chromatin and the silencing of the repetitive sequences. Furthermore, these two functions of BMI1 prevent the DNA from acquiring a G4 conformation. This conformation can lead to genome instability, increased DNA damage, and altered gene expression. However, most importantly, we showed that in cortical neurons, G4 structures could influence the alternative splicing of various genes, notably APP. These results shed new light on the origin of AD, and the importance of BMI1 and the secondary structure of the DNA in its context.
Books on the topic "Genome Compaction"
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Garcia-Pavia, Pablo, and Fernando Dominguez. Left ventricular non-compaction: genetics and embryology. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198784906.003.0362.
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Left ventricular non-compaction (LVNC) is a rare disorder that is considered an ‘unclassified cardiomyopathy’ by the European Society of Cardiology. Several different gene mutations related to LVNC have been identified, involving sarcomeric, cytoskeletal, Z-line, ion channel, mitochondrial, and signalling proteins. However, there is broad genetic overlap between LVNC and other inherited cardiac diseases such as dilated cardiomyopathy and hypertrophic cardiomyopathy. LVNC could also be part of multisystemic genetic entities such as Barth syndrome, or accompany congenital heart defects.
Book chapters on the topic "Genome Compaction"
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Garcia-Pavia, Pablo, and Fernando Dominguez. "Left ventricular non-compaction: genetics and embryology." In ESC CardioMed, 1505–9. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198784906.003.0362_update_001.
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Left ventricular non-compaction (LVNC) is a rare disorder that is considered an ‘unclassified cardiomyopathy’ by the European Society of Cardiology. Several different gene mutations related to LVNC have been identified, involving sarcomeric, cytoskeletal, Z-line, ion channel, mitochondrial, and signalling proteins. However, there is broad genetic overlap between LVNC and other inherited cardiac diseases such as dilated cardiomyopathy and hypertrophic cardiomyopathy. LVNC could also be part of multisystemic genetic entities such as Barth syndrome, or accompany congenital heart defects.
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Klaassen, Sabine. "Structural diseases of the heart: syndromes affecting the cardiovascular system." In ESC CardioMed, 719–22. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198784906.003.0162.
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Congenital heart disease (CHD) occurs in association with extracardiac anomalies or as part of an identified syndrome in 25–40% of cases. Approximately 30% of children with a chromosomal abnormality have CHD. Aneuploidy, or abnormal chromosomal number, accounts for a significant proportion of CHD. Of individuals born with trisomy 21, 50% have CHD, the most common being an atrioventricular septal defect (45%). In segmental aneuploidies, the so-called microdeletion syndromes, small submicroscopic chromosomal deletions can lead to CHD. The 22q11 deletion syndrome causes CHD with thymic and parathyroid hypoplasia (DiGeorge syndrome) and characteristic dysmorphic craniofacial features due to abnormal pharyngeal arch development. Williams–Beuren syndrome with renovascular anomalies, typical elfin facies, and neurological deficits, is characterized by cardiac involvement in the form of supravalvar aortic and peripheral pulmonic stenosis. Chromosome 1p36 deletion syndrome is the most common subterminal deletion syndrome. A substantial proportion of individuals with 1p36 deletion syndrome have CHD which may occur in the presence or absence of cardiomyopathy, most commonly left ventricular non-compaction cardiomyopathy. Single gene mutations may also cause syndromic CHD. Noonan syndrome and related disorders (‘RASopathies’) are caused by dominant gain-of-function mutations in one of the genes which encode proteins that function in the Ras/mitogen-activated protein kinase (RAS-MAPK) signal transduction pathway. Holt–Oram syndrome is associated with mutations in the transcription factor TBX5. Alagille syndrome is caused by mutations in JAG1, a gene encoding a ligand in the Notch signaling pathway. Heterotaxy syndrome, which means randomization of cardiac, pulmonary, or gastrointestinal situs, is frequently associated with CHD.
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Mogensen, Jens. "Restrictive cardiomyopathy." In ESC CardioMed, 1485–90. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198784906.003.0358.
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Restrictive cardiomyopathy (RCM) is an uncommon myocardial disease, characterized by impaired filling of the ventricles in the presence of normal wall thickness and systolic function. Most patients have both left- and right-sided heart failure which are often accompanied by severe symptoms. Enlargement of both atria is usually present and thromboembolic events are common. The prognosis is generally poor and a significant proportion of patients require a cardiac transplantation. RCM may appear in the context of diseases involving multiple organs or it may be confined to the heart. In addition, the condition appears in both familial and non-familial forms. The majority of familial forms are caused by sarcomeric gene mutations, which are also frequently identified in hypertrophic, dilated, and non-compaction cardiomyopathy. This implies that familial evaluation should be considered whenever an individual is diagnosed with RCM. In non-familial RCM, the most frequent aetiology is amyloidosis due to haematological diseases or senile forms. There are no randomized clinical trials of therapy in patients with symptomatic RCM. Diuretics remain the cornerstone of treatment and require careful titration since RCM patients are very sensitive to hypovolaemia. Since the condition is very rare with a severe disease expression and poor prognosis, it is recommended that RCM patients should be followed in expert centres in order to optimize management of the individual patient.
Conference papers on the topic "Genome Compaction"
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Teramoto, Jun, Kayoko Yamada, Naoki Kobayashi, Ayako Kori, Shige H. Yoshimura, Kunio Takeyasu, and Akira Ishihama. "Anaerobiosis-induced novel nucleoid protein of Escherichia coli: Architectural role in genome DNA compaction." In 2009 International Symposium on Micro-NanoMechatronics and Human Science (MHS). IEEE, 2009. http://dx.doi.org/10.1109/mhs.2009.5351819.
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Cirks, Blake, Joseph W. May, Michael Mulreany, Matthew Needleman, Clesson Turner, and Lydia Hellwig. "Ebstein's Anomaly and Left Ventricular Non-Compaction in Association With A Novel MYH7 Gene Mutation." In AAP National Conference & Exhibition Meeting Abstracts. American Academy of Pediatrics, 2021. http://dx.doi.org/10.1542/peds.147.3_meetingabstract.1037.
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Martins, Letícia, Marianny Rodrigues Costa Amorim, and Andreia Juliana Rodrigues Caldeira. "ORIGEM E IMPORTÂNCIA FILOGENÉTICA DO DNA MITOCONDRIAL." In I Congresso Nacional On-line de Biologia Celular e Estrutural. Revista Multidisciplinar em Saúde, 2021. http://dx.doi.org/10.51161/rems/1942.
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Introdução: A molécula do DNA mitocondrial (mtDNA) é muito utilizada em estudos envolvendo estrutura populacional, relações filogenéticas e o entendimento de vários aspectos biológicos e evolutivos de uma grande variedade de organismos. Mas, apesar desse destaque em estudos moleculares, ainda existem muitas dúvidas sobre a organela. Objetivo: Realizar uma revisão bibliográfica sobre a origem e importância filogenética do mtDNA.Material e método: Foi realizada uma busca de artigo embase dados como SciELO Brasil e Web of Science. Resultados: A mitocôndria é uma organela responsávelpela respiração celular e tem origem endossimbiótica, que pode ser evidenciada pela presença de um DNA própriocircular, semelhante à células ancestrais procariotas. O mtDNA é pequeno (aproximadamente 16 kb nos animais), com raras exceções; possui poucos genes, 37 no total, que codifica para apenas 5% dos produtos necessários para o funcionamento da mitocôndria. É considerado como um genoma compacto, com poucas seqüências espaçadoras, seqüências repetitivas, pseudogenes e introns e aindaausência de recombinação, embora exceções sejam descritas. O conteúdo gênico é conservado, e a ordem em que esses genes se encontram organizados no genomacostuma ser também conservada. A taxa evolutiva do mtDNA é alta, quando comparada a do genoma nuclear. O mtDNA é capaz de ligar pessoas à sua linhagem materna, já que este possui herança exclusivamente materna além disso, é considerado um marcador genético, pois apresenta mais de 5 mil cópias numa única célula. Conclusão: A análise desse tipo de DNA é excepcional em estudo de tecidos antigos e até arqueológicos, como dentes e ossos epodem ser amplamente usados em estudo de evolução e antropologia. Na atualidade, o mtDNA ganhou destaque na área forense, favorecendo a coleta evidencias que elucidam as situações de crimes.