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https://www.readbyqxmd.com/read/29776440/radiological-pleuroparenchymal-fibroelastosis-associated-to-limited-cutaneous-systemic-sclerosis-a-case-report
#1
D Hassoun, S Dirou, P P Arrigoni, C Durant, M Hamidou, A Néel, C Agard
BACKGROUND: Pleuroparenchymal fibroelastosis (PPFE) is a very rare interstitial lung disease (ILD) characterized by progressive fibrotic lesions of the visceral pleura and the sub-pleural parenchyma, affecting predominantly the upper lobes. PPFE may occur in different contextes like bone marrow or lung transplantations, but also in the context of telomeropathy with mutations of telomerase reverse transcriptase (TERT), telomerase RNA component (TERC) or regulator of telomere elongation helicase 1 (RTEL1) genes...
May 18, 2018: BMC Pulmonary Medicine
https://www.readbyqxmd.com/read/29773570/hdna2-nuclease-helicase-promotes-centromeric-dna-replication-and-genome-stability
#2
Zhengke Li, Bochao Liu, Weiwei Jin, Xiwei Wu, Mian Zhou, Vincent Wenzhe Liu, Ajay Goel, Zhiyuan Shen, Li Zheng, Binghui Shen
DNA2 is a nuclease/helicase that is involved in Okazaki fragment maturation, replication fork processing, and end resection of DNA double-strand breaks. Similar such helicase activity for resolving secondary structures and structure-specific nuclease activity are needed during DNA replication to process the chromosome-specific higher order repeat units present in the centromeres of human chromosomes. Here, we show that DNA2 binds preferentially to centromeric DNA The nuclease and helicase activities of DNA2 are both essential for resolution of DNA structural obstacles to facilitate DNA replication fork movement...
May 17, 2018: EMBO Journal
https://www.readbyqxmd.com/read/29770350/centromere-chromosome-orientation-fluorescent-in-situ-hybridization-cen-co-fish-detects-sister-chromatid-exchange-at-the-centromere-in-human-cells
#3
Simona Giunta
Human centromeres are composed of large tandem arrays of repetitive alpha satellite DNA, which are often sites of aberrant rearrangement in cancers (Mitelman et al ., 1997; Padilla-Nash et al ., 2001). To date, annotation of the human centromere repetitive sequences remains incomplete, greatly hindering in-depth functional studies of these regions essential for chromosome segregation. In order to monitor sister chromatid exchange happening at the centromere (C-SCE) due to recombination and mutagenic events, I have applied the Chromosome-Orientation Fluorescence in situ Hybridization (CO-FISH) technique to centromeres (Cen-CO-FISH) in human cells...
April 5, 2018: Bio-protocol
https://www.readbyqxmd.com/read/29765066/loss-of-cenp-f-results-in-dilated-cardiomyopathy-with-severe-disruption-of-cardiac-myocyte-architecture
#4
Annabelle Manalo, Alison K Schroer, Aidan M Fenix, Zoe Shancer, John Coogan, Tanner Brolsma, Dylan T Burnette, W David Merryman, David M Bader
Centromere-binding protein F (CENP-F) is a very large and complex protein with many and varied binding partners including components of the microtubule network. Numerous CENP-F functions impacting diverse cellular behaviors have been identified. Importantly, emerging data have shown that CENP-F loss- or gain-of-function has critical effects on human development and disease. Still, it must be noted that data at the single cardiac myocyte level examining the impact of CENP-F loss-of-function on fundamental cellular behavior is missing...
May 15, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29762781/the-tubr-centromere-complex-adopts-a-double-ring-segrosome-structure-in-type-iii-partition-systems
#5
Bárbara Martín-García, Alejandro Martín-González, Carolina Carrasco, Ana M Hernández-Arriaga, Rubén Ruíz-Quero, Ramón Díaz-Orejas, Clara Aicart-Ramos, Fernando Moreno-Herrero, María A Oliva
In prokaryotes, the centromere is a specialized segment of DNA that promotes the assembly of the segrosome upon binding of the Centromere Binding Protein (CBP). The segrosome structure exposes a specific surface for the interaction of the CBP with the motor protein that mediates DNA movement during cell division. Additionally, the CBP usually controls the transcriptional regulation of the segregation system as a cell cycle checkpoint. Correct segrosome functioning is therefore indispensable for accurate DNA segregation...
May 14, 2018: Nucleic Acids Research
https://www.readbyqxmd.com/read/29760389/aurora-a-dependent-cenp-a-phosphorylation-at-inner-centromeres-protects-bioriented-chromosomes-against-cohesion-fatigue
#6
Grégory Eot-Houllier, Laura Magnaghi-Jaulin, Géraldine Fulcrand, François-Xavier Moyroud, Solange Monier, Christian Jaulin
Sustained spindle tension applied to sister centromeres during mitosis eventually leads to uncoordinated loss of sister chromatid cohesion, a phenomenon known as "cohesion fatigue." We report that Aurora A-dependent phosphorylation of serine 7 of the centromere histone variant CENP-A (p-CENP-AS7) protects bioriented chromosomes against cohesion fatigue. Expression of a non-phosphorylatable version of CENP-A (CENP-AS7A) weakens sister chromatid cohesion only when sister centromeres are under tension, providing the first evidence of a regulated mechanism involved in protection against passive cohesion loss...
May 14, 2018: Nature Communications
https://www.readbyqxmd.com/read/29760081/the-genome-wide-rate-and-spectrum-of-spontaneous-mutations-differ-between-haploid-and-diploid-yeast
#7
Nathaniel P Sharp, Linnea Sandell, Christopher G James, Sarah P Otto
By altering the dynamics of DNA replication and repair, alternative ploidy states may experience different rates and types of new mutations, leading to divergent evolutionary outcomes. We report a direct comparison of the genome-wide spectrum of spontaneous mutations arising in haploids and diploids following a mutation-accumulation experiment in the budding yeast Saccharomyces cerevisiae Characterizing the number, types, locations, and effects of thousands of mutations revealed that haploids were more prone to single-nucleotide mutations (SNMs) and mitochondrial mutations, while larger structural changes were more common in diploids...
May 14, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29754905/the-post-anaphase-sumo-pathway-ensures-the-maintenance-of-centromeric-cohesion-through-meiosis-i-ii-transition-in-mammalian-oocytes
#8
Yi Ding, Masako Kaido, Elena Llano, Alberto M Pendas, Tomoya S Kitajima
The production of haploid gametes requires the maintenance of centromeric cohesion between sister chromatids through the transition between two successive meiotic divisions, meiosis I and meiosis II. One mechanism for the cohesion maintenance is shugoshin-dependent protection of centromeric cohesin at anaphase I onset [1-3]. However, how centromeric cohesion is maintained during late anaphase I and telophase I, when centromeric shugoshin is undetectable [1-3], remains largely unexplored. Here we show that the centromeric small ubiquitin-related modifier (SUMO) pathway is critical for the maintenance of centromeric cohesion during post-anaphase-I periods in mouse oocytes...
May 3, 2018: Current Biology: CB
https://www.readbyqxmd.com/read/29752677/insight-into-the-mechanisms-and-consequences-of-recurrent-telomere-capture-associated-with-a-sub-telomeric-deletion
#9
Alexsandro Dos Santos, Francine Campagnari, Ana Cristina Victorino Krepischi, Maria de Lourdes Ribeiro Câmara, Rita de Cássia E de Arruda Brasil, Ligia Vieira, Angela M Vianna-Morgante, Paulo A Otto, Peter L Pearson, Carla Rosenberg
A complex mosaicism of the short arm of chromosome 1 detected by SNP microarray analysis is described in a patient presenting a 4-Mb 1p36 terminal deletion and associated phenotypic features. The array pattern of chromosome 1p displayed an intriguing increase in divergence of the SNP heterozygote frequency from the expected 50% from the centromere towards the 1p36 breakpoint. This suggests that various overlapping segments of UPD were derived by somatic recombination between the 1p homologues. The most likely explanation was the occurrence of a series of events initiated in either a gamete or an early embryonic cell division involving a 1pter deletion rapidly followed by multiple telomere captures, resulting in additive, stepped increases in frequency of homozygosity towards the telomere...
May 12, 2018: Chromosome Research
https://www.readbyqxmd.com/read/29752560/anthracycline-use-for-early-stage-breast-cancer-in-the-modern-era-a-review
#10
REVIEW
Sakshi Jasra, Jesus Anampa
Anthracycline-based regimens have been an important treatment component for patients with breast cancer. As demonstrated in the last Early Breast Cancer Trialists' Collaborative Group (EBCTCG) meta-analysis, anthracycline-based regimens decrease breast cancer mortality by 20-30%. Anthracycline toxicities include the rare-but potential morbid-cardiotoxicity or leukemogenic effect, and the almost universal-but very distressing-alopecia. Due to potential toxicities, and large number of patients being exposed, several worldwide trials have re-examined the role of anthracycline-based regimens in the management of breast cancer...
May 11, 2018: Current Treatment Options in Oncology
https://www.readbyqxmd.com/read/29748388/the-kinetochore-proteins-cenp-e-and-cenp-f-directly-and-specifically-interact-with-distinct-bub-mitotic-checkpoint-ser-thr-kinases
#11
Giuseppe Ciossani, Katharina Overlack, Arsen Petrovic, Pim J Huis In 't Veld, Carolin Koerner, Sabine Wohlgemuth, Stefano Maffini, Andrea Musacchio
The segregation of chromosomes during cell division relies on the function of the kinetochores, protein complexes that physically connect chromosomes with microtubules of the spindle. The metazoan proteins, centromere protein E (CENP-E) and CENP-F, are components of a fibrous layer of mitotic kinetochores named the corona. Several of their features suggest that CENP-E and CENP-F are paralogs: they are very large (comprising approximately 2700 and 3200 residues, respectively), contain abundant predicted coiled-coil structures, are C-terminally prenylated, and are endowed with microtubule-binding sites at their termini...
May 10, 2018: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29748382/satellite-rna-increases-dna-damage-and-accelerates-tumor-formation-in-mouse-models-of-pancreatic-cancer
#12
Takahiro Kishikawa, Motoyuki Otsuka, Tatsunori Suzuki, Takahiro Seimiya, Kazuma Sekiba, Rei Ishibashi, Eri Tanaka, Motoko Ohno, Mari Yamagami, Kazuhiko Koike
Highly repetitive tandem arrays such as satellite sequences in the centromeric and pericentromeric regions of chromosomes, which were previously considered to be silent, are actively transcribed in various biological processes, including cancers. In the pancreas, this aberrant expression occurs even in Kras-mutated pancreatic intraepithelial neoplasia (PanIN) tissues, which are precancerous lesions. To determine the biological role of satellite RNAs in carcinogenesis in vivo, we constructed mouse major satellite (MajSAT) RNA-expressing transgenic mice...
May 10, 2018: Molecular Cancer Research: MCR
https://www.readbyqxmd.com/read/29748061/massive-ggaas-in-genomic-repetitive-sequences-serve-as-a-nuclear-reservoir-of-nf-%C3%AE%C2%BAb
#13
Jian Wu, Qiao Wang, Wei Dai, Wei Wang, Ming Yue, Jinke Wang
Nuclear factor κB (NF-κB) is a DNA-binding transcription factor. Characterizing its genomic binding sites is crucial for understanding its gene regulatory function and mechanism in cells. This study characterized the binding sites of NF-κB RelA/p65 in the tumor neurosis factor-α (TNFα) stimulated HeLa cells by a precise chromatin immunoprecipitation-sequencing (ChIP-seq). The results revealed that NF-κB binds nontraditional motifs (nt-motifs) containing conserved GGAA quadruplet. Moreover, nt-motifs mainly distribute in the peaks nearby centromeres that contain a larger number of repetitive elements such as satellite, simple repeats and short interspersed nuclear elements (SINEs)...
April 13, 2018: Journal of Genetics and Genomics, Yi Chuan Xue Bao
https://www.readbyqxmd.com/read/29743473/increased-expression-of-holliday-junction-recognizing-protein-hjurp-as-an-independent-prognostic-biomarker-in-advanced-stage-serous-ovarian-carcinoma
#14
Lin Li, Xiaoli Li, Qin Meng, Abdul Qadir Khan, Xiaomei Chen
BACKGROUND Advanced-stage serous ovarian carcinoma results in the majority of deaths from ovarian carcinoma. The histone chaperone, Holliday junction-recognizing protein (HJURP), binds with centromere protein-A (CENP-A) and its expression has been shown to be a prognostic biomarker in some cancers. The aim of this study was to investigate the role of HJURP expression in advanced-stage serous ovarian carcinoma. MATERIAL AND METHODS Ninety-eight patients with advanced-stage serous ovarian carcinoma, who had tumor tissue samples available, were studied...
May 10, 2018: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
https://www.readbyqxmd.com/read/29740582/anti-high-density-lipoprotein-antibodies-and-antioxidant-dysfunction-in-immune-driven-diseases
#15
Javier Rodríguez-Carrio, Lourdes Mozo, Patricia López, Elena Nikiphorou, Ana Suárez
Introduction: Impaired high-density lipoprotein (HDL) levels and antioxidant functionality of HDL, mainly attributed to a decreased paraoxonase-1 (PON1) functionality, have been described in autoimmune conditions. In this setting, a role for humoral response in cardiovascular disease is emerging. This study evaluates the role of immunoglobulin G (IgG) antibodies against HDL and disease-related autoantibodies on HDL dysfunction in immune-driven diseases. Methods: Serum IgG anti-HDL antibodies, PON1 activity, and total antioxidant capacity (TAC) were quantified in 381 patients with different immune-driven diseases [18 mixed connective tissue disease (MCTD), 35 primary Sjögren syndrome (pSS), 38 systemic sclerosis (SSc), 33 ANCA-associated vasculitis (AAV), 60 diabetes mellitus 1, 29 autoimmune B12 deficiency/pernicious anemia, 29 primary biliary cirrhosis, 46 IBD/Crohn, 54 IBD/UC, and 39 celiac disease (CD)] and 138 healthy controls...
2018: Frontiers in Medicine
https://www.readbyqxmd.com/read/29739320/mobilization-of-retrotransposons-as-a-cause-of-chromosomal-diversification-and-rapid-speciation-the-case-for-the-antarctic-teleost-genus-trematomus
#16
J Auvinet, P Graça, L Belkadi, L Petit, E Bonnivard, A Dettaï, W H Detrich, C Ozouf-Costaz, D Higuet
BACKGROUND: The importance of transposable elements (TEs) in the genomic remodeling and chromosomal rearrangements that accompany lineage diversification in vertebrates remains the subject of debate. The major impediment to understanding the roles of TEs in genome evolution is the lack of comparative and integrative analyses on complete taxonomic groups. To help overcome this problem, we have focused on the Antarctic teleost genus Trematomus (Notothenioidei: Nototheniidae), as they experienced rapid speciation accompanied by dramatic chromosomal diversity...
May 9, 2018: BMC Genomics
https://www.readbyqxmd.com/read/29735996/c-berst-defining-subnuclear-proteomic-landscapes-at-genomic-elements-with-dcas9-apex2
#17
Xin D Gao, Li-Chun Tu, Aamir Mir, Tomás Rodriguez, Yuehe Ding, John Leszyk, Job Dekker, Scott A Shaffer, Lihua Julie Zhu, Scot A Wolfe, Erik J Sontheimer
Mapping proteomic composition at distinct genomic loci in living cells has been a long-standing challenge. Here we report that dCas9-APEX2 biotinylation at genomic elements by restricted spatial tagging (C-BERST) allows the rapid, unbiased mapping of proteomes near defined genomic loci, as demonstrated for telomeres and centromeres. C-BERST enables the high-throughput identification of proteins associated with specific sequences, thereby facilitating annotation of these factors and their roles.
May 7, 2018: Nature Methods
https://www.readbyqxmd.com/read/29734785/the-guardian-of-the-genome-revisited-p53-downregulates-genes-required-for-telomere-maintenance-dna-repair-and-centromere-structure
#18
REVIEW
Eléonore Toufektchan, Franck Toledo
The p53 protein has been extensively studied for its capacity to prevent proliferation of cells with a damaged genome. Surprisingly, however, our recent analysis of mice expressing a hyperactive mutant p53 that lacks the C-terminal domain revealed that increased p53 activity may alter genome maintenance. We showed that p53 downregulates genes essential for telomere metabolism, DNA repair, and centromere structure and that a sustained p53 activity leads to phenotypic traits associated with dyskeratosis congenita and Fanconi anemia...
May 6, 2018: Cancers
https://www.readbyqxmd.com/read/29731852/identification-of-potential-diagnostic-and-prognostic-biomarkers-in-non-small-cell-lung-cancer-based-on-microarray-data
#19
Ru Huang, Lei Gao
Non-small cell lung cancer (NSCLC) is the most commonly diagnosed subtype of lung cancer, and the leading cause of cancer-associated mortalities worldwide. However, NSCLC is typically diagnosed at a late stage of disease due to a lack of effective diagnostic methods. In the present study, the GSE19804 dataset was obtained from the Gene Expression Omnibus, and a number of differentially expressed genes were identified between NSCLC and adjacent normal tissues. Based on functional and pathway enrichment analyses, five hub genes (cell-division cycle 20, centromere protein F, kinesin family member 2C, BUB1 mitotic checkpoint serine/threonine kinase and ZW10 interacting kinetochore protein) were selected...
May 2018: Oncology Letters
https://www.readbyqxmd.com/read/29731846/the-clinical-value-of-detecting-circulating-tumour-cells-in-the-peripheral-blood-of-nasopharyngeal-carcinoma-patients
#20
Zhuo Chen, Lu Xu, Xinhua Xu, Chen Yuan
The aim of the present study as to analyse the associations between circulating tumour cells (CTCs) and the clinical parameters of nasopharyngeal carcinoma (NPC). Peripheral blood (7.5 ml) from 68 first-diagnosed NPC patients was collected to detect and identify CTCs by cluster of differentiation (CD)45 immunomagnetic separation. Immunofluorescent staining of cytokeratin-18, CD45 and DAPI, and fluorescence in situ hybridization were combined with the centromere of chromosome 8 (CEP8) probe method to analyse the associations between CTCs and clinical parameters...
May 2018: Oncology Letters
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