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https://www.readbyqxmd.com/read/28642303/molecular-analysis-of-myelodysplastic-syndrome-with-isolated-del-5q-reveals-a-specific-spectrum-of-molecular-mutations-with-prognostic-impact-a-study-on-123-patients-and-27-genes
#1
Manja Meggendorfer, Claudia Haferlach, Wolfgang Kern, Torsten Haferlach
The only cytogenetic aberration defining a myelodysplastic syndrome subtype is the deletion of the long arm of chromosome 5, giving with morphological features the diagnosis of myelodysplastic syndrome with isolated del(5q). These patients show a good prognosis and respond to treatment such as lenalidomide, but some cases progress to acute myeloid leukemia. However, the molecular mutation pattern is rarely characterized. Therefore, we investigated a large cohort of 123 myelodysplastic syndrome patients with isolated del(5q) diagnosed following the World Health Organization classifications 2008 and 2016 by sequencing 27 genes...
June 22, 2017: Haematologica
https://www.readbyqxmd.com/read/28631016/new-insights-into-cohesin-loading
#2
REVIEW
Ireneusz Litwin, Robert Wysocki
Cohesin is a conserved, ring-shaped protein complex that encircles sister chromatids and ensures correct chromosome segregation during mitosis and meiosis. It also plays a crucial role in the regulation of gene expression, DNA condensation, and DNA repair through both non-homologous end joining and homologous recombination. Cohesins are spatiotemporally regulated by the Scc2-Scc4 complex which facilitates cohesin loading onto chromatin at specific chromosomal sites. Over the last few years, much attention has been paid to cohesin and cohesin loader as it became clear that even minor disruptions of these complexes may lead to developmental disorders and cancers...
June 19, 2017: Current Genetics
https://www.readbyqxmd.com/read/28619713/molecular-model-of-fission-yeast-centrosome-assembly-determined-by-superresolution-imaging
#3
Andrew J Bestul, Zulin Yu, Jay R Unruh, Sue L Jaspersen
Microtubule-organizing centers (MTOCs), known as centrosomes in animals and spindle pole bodies (SPBs) in fungi, are important for the faithful distribution of chromosomes between daughter cells during mitosis as well as for other cellular functions. The cytoplasmic duplication cycle and regulation of the Schizosaccharomyces pombe SPB is analogous to centrosomes, making it an ideal model to study MTOC assembly. Here, we use superresolution structured illumination microscopy with single-particle averaging to localize 14 S...
June 15, 2017: Journal of Cell Biology
https://www.readbyqxmd.com/read/28617979/the-turner-syndrome-life-course-project-karyotype-phenotype-analyses-across-the-lifespan
#4
Antoinette Cameron-Pimblett, Clementina La Rosa, Thomas F J King, Melanie C Davies, Gerard S Conway
INTRODUCTION: Turner Syndrome is associated with a variety of morbidities affecting nearly every body system, some of which increase in prevalence in adult life. The severity of clinical features in TS is roughly in parallel with the magnitude of the deficit of X chromosome material. The aim of this study was to extend the established karyotype phenotype relationships using data from a large adult cohort. MATERIALS & METHODS: Karyotypes were available in 656 (78...
June 15, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28614209/newly-described-entities-in-salivary-gland-pathology
#5
Alena Skálová, Douglas R Gnepp, James S Lewis, Jennifer L Hunt, Justin A Bishop, Henrik Hellquist, Alessandra Rinaldo, Vincent Vander Poorten, Alfio Ferlito
Salivary glands may give rise to a wide spectrum of different tumors. This review concentrates on 4 salivary gland tumors that have been accepted in the recent literature as new neoplastic entities: mammary analog secretory carcinoma, cribriform adenocarcinoma of minor salivary glands (CASG), sclerosing polycystic adenosis/adenoma (SPA), and the mucinous/secretory variant of myoepithelioma. Mammary analog secretory carcinoma is a distinctive low-grade malignant salivary cancer that harbors a characteristic chromosomal translocation, t(12;15) (p13;q25), resulting in an ETV6-NTRK3 fusion...
June 13, 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28607419/two-step-atp-driven-opening-of-cohesin-head
#6
Íñigo Marcos-Alcalde, Jesús I Mendieta-Moreno, Beatriz Puisac, María Concepción Gil-Rodríguez, María Hernández-Marcos, Diego Soler-Polo, Feliciano J Ramos, José Ortega, Juan Pié, Jesús Mendieta, Paulino Gómez-Puertas
The cohesin ring is a protein complex composed of four core subunits: Smc1A, Smc3, Rad21 and Stag1/2. It is involved in chromosome segregation, DNA repair, chromatin organization and transcription regulation. Opening of the ring occurs at the "head" structure, formed of the ATPase domains of Smc1A and Smc3 and Rad21. We investigate the mechanisms of the cohesin ring opening using techniques of free molecular dynamics (MD), steered MD and quantum mechanics/molecular mechanics MD (QM/MM MD). The study allows the thorough analysis of the opening events at the atomic scale: i) ATP hydrolysis at the Smc1A site, evaluating the role of the carboxy-terminal domain of Rad21 in the process; ii) the activation of the Smc3 site potentially mediated by the movement of specific amino acids; and iii) opening of the head domains after the two ATP hydrolysis events...
June 12, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28604966/-detection-of-a-patient-with-ring-chromosome-15-by-low-coverage-massively-parallel-copy-number-variation-sequencing
#7
Qiong Pan, Li Zhang, Fengting Zhang, Xin Jin, Yue Hu, Liyan Zhu, Longfei Cheng, Qigang Zhang, Ying Ning
OBJECTIVE: To explore the genetic cause for a child with developmental delay. METHODS: The karotypes of the child and her parents were analyzed with G-banding analysis. Their genome DNA was analyzed with low-coverage massively parallel copy number variation sequencing (CNV-seq) and verified by single nucleotide polymorphism array (SNP-array). RESULTS: The karyotype of the child was ascertained as 46,XX,r(15)(p13q26.3), while both parents showed a normal karyotype...
June 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28596365/pcgf3-5-prc1-initiates-polycomb-recruitment-in-x-chromosome-inactivation
#8
Mafalda Almeida, Greta Pintacuda, Osamu Masui, Yoko Koseki, Michal Gdula, Andrea Cerase, David Brown, Arne Mould, Cassandravictoria Innocent, Manabu Nakayama, Lothar Schermelleh, Tatyana B Nesterova, Haruhiko Koseki, Neil Brockdorff
Recruitment of the Polycomb repressive complexes PRC1 and PRC2 by Xist RNA is an important paradigm for chromatin regulation by long noncoding RNAs. Here, we show that the noncanonical Polycomb group RING finger 3/5 (PCGF3/5)-PRC1 complex initiates recruitment of both PRC1 and PRC2 in response to Xist RNA expression. PCGF3/5-PRC1-mediated ubiquitylation of histone H2A signals recruitment of other noncanonical PRC1 complexes and of PRC2, the latter leading to deposition of histone H3 lysine 27 methylation chromosome-wide...
June 9, 2017: Science
https://www.readbyqxmd.com/read/28588710/the-clinical-analysis-of-small-supernumerary-marker-chromosomes-in-17-children-with-mos-45-x-46-x-mar-karyotype
#9
Hongying Wang, Ting Wang, Naichao Yang, Yaxiang He, Linqi Chen, Liyi Hong, Xuejun Shao, Hong Li, Hong Zhu, Haibo Li
Small supernumerary maker chromosome (sSMC) is a type of structurally abnormal chromosome. In order to identify the origin, morphology and other characteristics of sSMCs in children with mos 45,X/46,X,+mar karyotype, 17 patients (16 females and 1 male) were analyzed. All patients underwent general physical examination, gonadal imaging and molecular cytogenetic analyses, including Giemsa banding, dual-color fluorescence in situ hybridization and detection of the sex-determining region Y gene by polymerase chain reaction...
June 2017: Oncology Letters
https://www.readbyqxmd.com/read/28584068/genomic-insights-into-the-evolution-of-the-nicotine-biosynthesis-pathway-in-tobacco
#10
Masataka Kajikawa, Nicolas Sierro, Haruhiko Kawaguchi, Nicolas Bakaher, Nikolai V Ivanov, Takashi Hashimoto, Tsubasa Shoji
In tobacco (Nicotiana tabacum), nicotine is the predominant alkaloid. It is produced in the roots and accumulated mainly in the leaves. Jasmonates play a central signaling role in damage-induced nicotine formation. The genome sequence of tobacco provides us an almost complete inventory of structural and regulatory genes involved in nicotine pathway. Phylogenetic and expression analyses revealed a series of structural genes of the nicotine pathway, forming a regulon, under the control of jasmonate-responsive ETHYLENE RESPONSE FACTOR (ERF) transcription factors...
June 2017: Plant Physiology
https://www.readbyqxmd.com/read/28554891/dna-repair-gene-expressions-are-related-to-bone-marrow-cellularity-in-myelodysplastic-syndrome
#11
Howard L Ribeiro, Allan Rodrigo S Maia, Roberta Taiane G de Oliveira, Marília Braga Costa, Izabelle Rocha Farias, Daniela de Paula Borges, Juliana Cordeiro de Sousa, Silvia Maria M Magalhães, Ronald F Pinheiro
OBJECTIVE: To evaluate the expression of genes related to nuclear excision (ERCC8, XPA and XPC), homologous recombination and non-homologous end-joining (ATM, BRCA1, BRCA2 and LIG4) repair mechanisms, using quantitative PCR methodologies, and it relation with bone marrow cellularity in myelodysplastic syndrome (MDS). METHODS AND RESULTS: A total of 51 adult de novo patients with MDS (3 refractory anaemia (RA), 11 refractory anaemia with ringed sideroblasts (RARS), 28 refractory cytopenia with multilineage dysplasia (RCMD), 3 refractory anaemia with excess blasts type I (RAEB-I), 5 refractory anaemia with excess blasts type II (RAEB-II), and 1 chronic myelomonocytic leukaemia (CMML) were evaluated...
May 29, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28546864/the-first-japanese-case-of-central-precocious-puberty-with-a-novel-mkrn3-mutation
#12
Junko Nishioka, Hirohito Shima, Maki Fukami, Shuichi Yatsuga, Takako Matsumoto, Kikumi Ushijima, Miyuki Kitamura, Yasutoshi Koga
MKRN3, located on chromosome 15q11.2, encodes makorin ring-finger 3, which is an upstream suppressor of the hypothalamic-pituitary-gonadal axis. Mutation of this gene induces central precocious puberty (CPP). As MKRN3 is maternally imprinted, only the paternal allele is expressed. This is the first report of an 8-year-old Japanese girl with CPP caused by a novel frameshift mutation in MKRN3 (p.Glu229Argfs*3).
2017: Human Genome Variation
https://www.readbyqxmd.com/read/28535377/mechanism-of-ska-recruitment-by-ndc80-complexes-to-kinetochores
#13
Paweł Ł Janczyk, Katarzyna A Skorupka, John G Tooley, Daniel R Matson, Cortney A Kestner, Thomas West, Owen Pornillos, P Todd Stukenberg
Yeast use the ring-shaped Dam1 complex to slide down depolymerizing microtubules to move chromosomes, but current models suggest that other eukaryotes do not have a sliding ring. We visualized Ndc80 and Ska complexes on microtubules by electron microscopic tomography to identify the structure of the human kinetochore-microtubule attachment. Ndc80 recruits the Ska complex so that the V shape of the Ska dimer interacts along protofilaments. We identify a mutant of the Ndc80 tail that is deficient in Ska recruitment to kinetochores and in orienting Ska along protofilaments in vitro...
May 22, 2017: Developmental Cell
https://www.readbyqxmd.com/read/28500529/bacterial-nucleoid-occlusion-multiple-mechanisms-for-preventing-chromosome-bisection-during-cell-division
#14
Maria A Schumacher
In most bacteria cell division is driven by the prokaryotic tubulin homolog, FtsZ, which forms the cytokinetic Z ring. Cell survival demands both the spatial and temporal accuracy of this process to ensure that equal progeny are produced with intact genomes. While mechanisms preventing septum formation at the cell poles have been known for decades, the means by which the bacterial nucleoid is spared from bisection during cell division, called nucleoid exclusion (NO), have only recently been deduced. The NO theory was originally posited decades ago based on the key observation that the cell division machinery appeared to be inhibited from forming near the bacterial nucleoid...
2017: Sub-cellular Biochemistry
https://www.readbyqxmd.com/read/28500522/e-coli-cell-cycle-machinery
#15
Joe Lutkenhaus, Shishen Du
Cytokinesis in E. coli is organized by a cytoskeletal element designated the Z ring. The Z ring is formed at midcell by the coalescence of FtsZ filaments tethered to the membrane by interaction of FtsZ's conserved C-terminal peptide (CCTP) with two membrane-associated proteins, FtsA and ZipA. Although interaction between an FtsZ monomer and either of these proteins is of low affinity, high affinity is achieved through avidity - polymerization linked CCTPs interacting with the membrane tethers. The placement of the Z ring at midcell is ensured by antagonists of FtsZ polymerization that are positioned within the cell and target FtsZ filaments through the CCTP...
2017: Sub-cellular Biochemistry
https://www.readbyqxmd.com/read/28498409/demonstration-of-a-potent-ret-transcriptional-inhibitor-for-the-treatment-of-medullary-thyroid-carcinoma-based-on-an-ellipticine-derivative
#16
Vishnu Muthuraj Kumarasamy, Daekyu Sun
Dominant-activating mutations in the RET (rearranged during transfection) proto-oncogene, which encodes a receptor tyrosine kinase, is often associated with the development of medullary thyroid carcinoma (MTC). The proximal promoter region of the RET gene consists of a guanine-rich sequence containing five runs of three consecutive guanine residues that serve as the binding site for transcriptional factors. As we have recently shown, this stretch of nucleotides in the promoter region is highly dynamic in nature and tend to form non-B DNA secondary structures called G-quadruplexes, which suppress the transcription of the RET gene...
May 11, 2017: International Journal of Oncology
https://www.readbyqxmd.com/read/28482393/-a-patient-with-ring-chromosome-20-syndrome-and-agtr2-polymorphisms
#17
Z Yi, H Pan, L Li
No abstract text is available yet for this article.
May 4, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28460277/shaping-chromosomes-by-dna-capture-and-release-gating-the-smc-rings
#18
REVIEW
Stephan Gruber
SMC proteins organize chromosomes to coordinate essential nuclear processes such as gene expression and DNA recombination as well as to segregate chromosomes during cell division. SMC mediated DNA bridging keeps sister chromatids aligned for much of the cell cycle, while the active extrusion of DNA loops by SMC presumably compacts chromosomes. Chromosome superstructure is thus given by the number of DNA linkages and the size of chromosomal DNA loops, which in turn depend on the dynamics of SMC loading and unloading...
April 28, 2017: Current Opinion in Cell Biology
https://www.readbyqxmd.com/read/28455449/identification-of-a-new-small-ubiquitin-like-modifier-sumo-interacting-motif-in-the-e3-ligase-piasy
#19
Kawaljit Kaur, Hyewon Park, Nootan Pandey, Yoshiaki Azuma, Roberto N De Guzman
Small ubiquitin-like modifier (SUMO) conjugation is a reversible post-translational modification process implicated in the regulation of gene transcription, DNA repair, and cell cycle. SUMOylation depends on the sequential activities of E1 activating, E2 conjugating, and E3 ligating enzymes. SUMO E3 ligases enhance transfer of SUMO from the charged E2 enzyme to the substrate. We have previously identified PIASy, a member of the Siz/protein inhibitor of activated STAT (PIAS) RING family of SUMO E3 ligases, as essential for mitotic chromosomal SUMOylation in frog egg extracts and demonstrated that it can mediate effective SUMOylation...
June 16, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28453390/the-torments-of-the-cohesin-ring
#20
Alap P Chavda, Keven Ang, Dmitri Ivanov
Cohesin is a ring-shaped protein complex which comprises the Smc1, Smc3 and Scc1 subunits. It topologically embraces chromosomal DNA to connect sister chromatids and stabilize chromatin loops. It is required for proper chromosomal segregation, DNA repair and transcriptional regulation. We have recently reported that cohesin rings can adopt a "collapsed" rod-like conformation which is driven by the interaction between the Smc1 and Smc3 coiled coil arms and is regulated by post-translational modifications. The "collapsed" conformation plays a role in cohesin ring assembly and its loading on the DNA...
February 27, 2017: Nucleus
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