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https://www.readbyqxmd.com/read/27910910/genome-wide-characterisation-and-expression-profile-of-the-grapevine-atl-ubiquitin-ligase-family-reveal-biotic-and-abiotic-stress-responsive-and-development-related-members
#1
Pietro Ariani, Alice Regaiolo, Arianna Lovato, Alejandro Giorgetti, Andrea Porceddu, Salvatore Camiolo, Darren Wong, Simone Castellarin, Elodie Vandelle, Annalisa Polverari
The Arabidopsis Tóxicos en Levadura (ATL) protein family is a class of E3 ubiquitin ligases with a characteristic RING-H2 Zn-finger structure that mediates diverse physiological processes and stress responses in plants. We carried out a genome-wide survey of grapevine (Vitis vinifera L.) ATL genes and retrieved 96 sequences containing the canonical ATL RING-H2 domain. We analysed their genomic organisation, gene structure and evolution, protein domains and phylogenetic relationships. Clustering revealed several clades, as already reported in Arabidopsis thaliana and rice (Oryza sativa), with an expanded subgroup of grapevine-specific genes...
December 2, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27909798/the-loading-of-condensin-in-the-context-of-chromatin
#2
REVIEW
Xavier Robellet, Vincent Vanoosthuyse, Pascal Bernard
The packaging of DNA into chromosomes is a ubiquitous process that enables living organisms to structure and transmit their genome accurately through cell divisions. In the three kingdoms of life, the architecture and dynamics of chromosomes rely upon ring-shaped SMC (Structural Maintenance of Chromosomes) condensin complexes. To understand how condensin rings organize chromosomes, it is essential to decipher how they associate with chromatin filaments. Here, we use recent evidence to discuss the role played by nucleosomes and transcription factors in the loading of condensin at transcribed genes...
December 1, 2016: Current Genetics
https://www.readbyqxmd.com/read/27906128/two-subunits-of-human-orc-are-dispensable-for-dna-replication-and-proliferation
#3
Etsuko Shibata, Manjari Kiran, Yoshiyuki Shibata, Samarendra Singh, Shashi Kiran, Anindya Dutta
The six-subunit Origin Recognition Complex (ORC) is believed to be an essential eukaryotic ATPase that binds to origins of replication as a ring-shaped heterohexamer to load MCM2-7 and initiate DNA replication. We have discovered that human cell lines in culture proliferate with intact chromosomal origins of replication after disruption of both alleles of ORC2 or of the ATPase subunit, ORC1. The ORC1 or ORC2-depleted cells replicate with decreased chromatin loading of MCM2-7 and become critically dependent on another ATPase, CDC6, for survival and DNA replication...
December 1, 2016: ELife
https://www.readbyqxmd.com/read/27902442/the-whcd-gene-of-corynebacterium-glutamicum-plays-roles-in-cell-division-and-envelope-formation
#4
Dong-Seok Lee, Younhee Kim, Heung-Shick Lee
In this study, we analyzed the whcD gene from Corynebacterium glutamicum, which encodes a homolog of whiB, a Streptomyces coelicolor gene required for the sporulation of aerial hyphae. Deletion of the gene (ΔwhcD) severely affected cell growth in C. glutamicum. The ΔwhcD strain exhibited a large, filamentous, branched, and bud-shaped morphology with multiple septa. The transcription levels of the cell division genes involved in Z-ring assembly and septal peptidoglycan synthesis, including ftsZ, sepF, ftsQ, and ftsI, were markedly decreased in the ΔwhcD strain...
November 24, 2016: Microbiology
https://www.readbyqxmd.com/read/27895712/philadelphia-chromosome-duplication-as-a-ring-shaped-chromosome
#5
Cesar Borjas-Gutierrez, Juan Ramon Gonzalez-Garcia
The gain of a second copy of the Philadelphia chromosome is one of the main secondary chromosomal changes related to the clonal evolution of cells with t(9;22) in chronic myelogenous leukemia. This gain causes the acquisition of another copy of the BCR/ABL1 fusion gene. Isochromosomes of the der(22) chromosome or double minute chromosomes are well known to lead an increased copy number of BCR/ABL1 gene. There is no antecedent of Philadelphia chromosome duplication as a ring chromosome. A recent published report contains evidence that strongly suggests that the Philadelphia chromosome was duplicated as a ring chromosome, observation that was overlooked by the authors...
2016: Molecular Cytogenetics
https://www.readbyqxmd.com/read/27882407/a-novel-system-for-correcting-large-scale-chromosomal-aberrations-ring-chromosome-correction-via-reprogramming-into-induced-pluripotent-stem-cell-ipsc
#6
REVIEW
Taehyun Kim, Kathleen Plona, Anthony Wynshaw-Boris
Approximately 1 in 500 newborns are born with chromosomal abnormalities that include trisomies, translocations, large deletions, and duplications. There is currently no therapeutic approach for correcting such chromosomal aberrations in vivo or in vitro. When we attempted to produce induced pluripotent stem cell (iPSC) models from patient-derived fibroblasts that contained ring chromosomes, we found that the ring chromosomes were eliminated and replaced by duplicated normal copies of chromosomes through a mechanism of uniparental isodisomy (Bershteyn et al...
November 23, 2016: Chromosoma
https://www.readbyqxmd.com/read/27862526/systems-genetics-reveals-a-transcriptional-network-associated-with-susceptibility-in-the-maize-gray-leaf-spot-pathosystem
#7
Nanette Christie, Alexander A Myburg, Fourie Joubert, Shane L Murray, Maryke Carstens, Yao-Cheng Lin, Jacqueline Meyer, Bridget G Crampton, Shawn A Christensen, Jean F Ntuli, Sara S Wighard, Yves Van de Peer, Dave K Berger
We used a systems genetics approach to elucidate molecular mechanisms of maize responses to gray leaf spot (GLS) disease, caused by Cercospora zeina, a threat to maize production globally. Expression analysis of earleaf samples in a sub-tropical maize RIL population (CML444 X SC Malawi) subjected in field to C. zeina infection allowed detection of 20,206 expression QTLs (eQTL). Four trans-eQTL hotspots coincided with GLS disease QTLs mapped in the same field experiment. Co-expression network analysis identified three expression modules correlated with GLS disease scores...
November 12, 2016: Plant Journal: for Cell and Molecular Biology
https://www.readbyqxmd.com/read/27860551/congenital-variants-and-anomalies-of-the-aortic-arch
#8
Kate Hanneman, Beverley Newman, Frandics Chan
Congenital variants and anomalies of the aortic arch are important to recognize as they may be associated with vascular rings, congenital heart disease, and chromosomal abnormalities, and can have important implications for prognosis and management. The purpose of this article is to review cross-sectional imaging techniques used in the evaluation of the aortic arch, describe the embryology and anatomy of the aortic arch system, discuss aortic arch variants and anomalies, and review other malformations of the aortic arch, including interrupted aortic arch, hypoplastic aortic arch, and aortic coarctation...
November 18, 2016: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/27849610/dna-polymerase-%C3%AE-limits-chromosomal-damage-and-promotes-cell-survival-following-aflatoxin-exposure
#9
Ying-Chih Lin, Nichole Owen, Irina G Minko, Sabine S Lange, Liang Li, Michael P Stone, Richard D Wood, Amanda K McCullough, R Stephen Lloyd
Routine dietary consumption of foods that contain aflatoxins is the second leading cause of environmental carcinogenesis worldwide. Aflatoxin-driven mutagenesis is initiated through metabolic activation of aflatoxin B1 (AFB1) to its epoxide form that reacts with N7 guanine in DNA. The resulting AFB1-N7-dG adduct undergoes either spontaneous depurination or imidazole-ring opening yielding formamidopyrimidine AFB1 (AFB1-Fapy-dG). Because this latter adduct is known to persist in human tissues and contributes to the high frequency G-to-T mutation signature associated with many hepatocellular carcinomas, we sought to establish the identity of the polymerase(s) involved in processing this lesion...
November 14, 2016: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/27849184/ring-chromosome-7-a-rare-structural-abnormality-in-acute-myeloid-leukemia-aml
#10
Kristie Q Liu, Carlos A Tirado
Ring chromosomes, often leading to partial deletions, are found in about 2% of cases of acute myeloid leukemia (AML) and are typically associated with a poor prognosis. Herein, we present the case of a 62-year-old female who showed markedly hypercellular marrow with sheets of myeloblasts, monoblasts, and promonocytes, confirmed by flow cytometry and cases of AML with r(7) have been reported. Analysis of these cases demonstrated that r(7) was a sole abnormality in 20%, a primary abnormality in 14%, and in the context of a complex karyotype in 66%...
2016: Journal of the Association of Genetic Technologists
https://www.readbyqxmd.com/read/27843654/anterior-pituitary-aplasia-in-an-infant-with-ring-chromosome-18p-deletion
#11
Edward J Bellfield, Jacqueline Chan, Sarah Durrin, Valerie Lindgren, Zohra Shad, Claudia Boucher-Berry
We present the first reported case of an infant with 18p deletion syndrome with anterior pituitary aplasia secondary to a ring chromosome. Endocrine workup soon after birth was reassuring; however, repeat testing months later confirmed central hypopituitarism. While MRI reading initially indicated no midline defects, subsequent review of the images confirmed anterior pituitary aplasia with ectopic posterior pituitary. This case demonstrates how deletion of genetic material, even if resulting in a chromosomal ring, still results in a severe syndromic phenotype...
2016: Case Reports in Endocrinology
https://www.readbyqxmd.com/read/27828853/prenatal-sonographic-diagnosis-of-urorectal-septum-malformation-sequence-and-chromosomal-microarray-analysis-a-case-report-and-review-of-the-literature
#12
Yan Pei, Qingqing Wu, Yan Liu, Lijuan Sun, Wenxue Zhi, Puqing Zhang
INTRODUCTION: Urorectal septum malformation sequence (URSMS) is a rare congenital abnormal syndrome that is caused by the incomplete division of the cloaca. Based on whether the cloaca membrane breaks down or not, the URSMS are classified as full and partial forms. The prenatal diagnosis of URSMS remains challenging because of poor recognition to this malformation and the relatively non-specific sonographic features. We report a prenatally sonographic diagnosed case of the partial URSMS, and review the literature to summarize the prenatal features...
November 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27816898/epilepsy-in-ring-chromosome-20-syndrome
#13
Aglaia Vignoli, Francesca Bisulli, Francesca Darra, Massimo Mastrangelo, Carmen Barba, Lucio Giordano, Katherine Turner, Elena Zambrelli, Valentina Chiesa, Stefania Bova, Isabella Fiocchi, Angela Peron, Ilaria Naldi, Giuseppe Milito, Laura Licchetta, Paolo Tinuper, Renzo Guerrini, Bernardo Dalla Bernardina, Maria Paola Canevini
OBJECTIVE: Ring chromosome 20 syndrome is characterized by severe, drug resistant childhood onset epilepsy, often accompanied by cognitive impairment. We characterized the electro-clinical phenotype and the long-term course of epilepsy in a large series. METHODS: We reviewed the electro-clinical phenotype of 25 patients (aged 8-59 years), and assessed the relationship between epilepsy severity and clinical and/or genetic variables. We also searched for reports of patients diagnosed with r(20) syndrome in the literature, included those whose clinical information was sufficiently accurate, and compared their clinical features with the ones of our patients...
October 24, 2016: Epilepsy Research
https://www.readbyqxmd.com/read/27802612/computer-simulations-of-melts-of-randomly-branching-polymers
#14
Angelo Rosa, Ralf Everaers
Randomly branching polymers with annealed connectivity are model systems for ring polymers and chromosomes. In this context, the branched structure represents transient folding induced by topological constraints. Here we present computer simulations of melts of annealed randomly branching polymers of 3 ≤ N ≤ 1800 segments in d = 2 and d = 3 dimensions. In all cases, we perform a detailed analysis of the observed tree connectivities and spatial conformations. Our results are in excellent agreement with an asymptotic scaling of the average tree size of R ∼ N(1/d), suggesting that the trees behave as compact, territorial fractals...
October 28, 2016: Journal of Chemical Physics
https://www.readbyqxmd.com/read/27798241/an-acetyltransferase-independent-function-of-eso1-regulates-centromere-cohesion
#15
Su-Jiun Lin, Claudia Tapia-Alveal, Omar J Jabado, Doris Germain, Matthew J O'Connell
Eukaryotes contain three essential Structural Maintenance of Chromosomes (SMC) complexes: cohesin, condensin and Smc5/6. Cohesin forms a ring-shaped structure that embraces sister chromatids to promote their cohesion. The cohesiveness of cohesin is promoted by acetylation of N-terminal lysines of the Smc3 subunit by the acetyltransferases Eco1 in Saccharomyces cerevisiae, and by the homolog Eso1 in Schizosaccharomyces pombe In both yeasts, these acetyltransferases are essential for cell viability. However, while non-acetylatable Smc3 mutants are lethal in S...
October 19, 2016: Molecular Biology of the Cell
https://www.readbyqxmd.com/read/27797071/an-in-vitro-assay-for-monitoring-topological-dna-entrapment-by-the-chromosomal-cohesin-complex
#16
Yasuto Murayama, Frank Uhlmann
The cohesin complex is involved in a broad range of chromosomal biology, including DNA repair, gene transcription as well as sister chromatid cohesion. Cohesin is a large, ring-shaped protein complex and is thought to entrap DNA molecules inside of its ring. The unique DNA association is central to cohesin function and requires its ATPase and another heterodimer complex called the cohesin loader. Here we describe the biochemical reconstitution of topological cohesin loading onto DNA using the purified fission yeast cohesin proteins...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/27795324/functional-characterization-of-esck-orf4-a-sorting-platform-component-of-the-enteropathogenic-escherichia-coli-injectisome
#17
Eduardo Soto, Norma Espinosa, Miguel Díaz-Guerrero, Meztlli O Gaytán, José L Puente, Bertha González-Pedrajo
: The type III secretion system (T3SS) is a supramolecular machine used by many bacterial pathogens to translocate effector proteins directly into the eukaryotic host cell cytoplasm. Enteropathogenic Escherichia coli (EPEC) is an important cause of infantile diarrheal disease in underdeveloped countries. EPEC virulence relies on a T3SS encoded within a chromosomal pathogenicity island known as the locus of enterocyte effacement (LEE). In this work, we pursued the functional characterization of the LEE-encoded protein EscK (previously Orf4)...
October 17, 2016: Journal of Bacteriology
https://www.readbyqxmd.com/read/27791135/crystal-structure-of-the-cohesin-loader-scc2-and-insight-into-cohesinopathy
#18
Sotaro Kikuchi, Dominika M Borek, Zbyszek Otwinowski, Diana R Tomchick, Hongtao Yu
The ring-shaped cohesin complex topologically entraps chromosomes and regulates chromosome segregation, transcription, and DNA repair. The cohesin core consists of the structural maintenance of chromosomes 1 and 3 (Smc1-Smc3) heterodimeric ATPase, the kleisin subunit sister chromatid cohesion 1 (Scc1) that links the two ATPase heads, and the Scc1-bound adaptor protein Scc3. The sister chromatid cohesion 2 and 4 (Scc2-Scc4) complex loads cohesin onto chromosomes. Mutations of cohesin and its regulators, including Scc2, cause human developmental diseases termed cohesinopathy...
November 1, 2016: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/27791029/crystal-structure-of-the-dna-binding-domain-of-the-transcription-factor-t-bet-suggests-simultaneous-recognition-of-distant-genome-sites
#19
Ce Feng Liu, Gabriel S Brandt, Quyen Q Hoang, Natalia Naumova, Vanja Lazarevic, Eun Sook Hwang, Job Dekker, Laurie H Glimcher, Dagmar Ringe, Gregory A Petsko
The transcription factor T-bet (Tbox protein expressed in T cells) is one of the master regulators of both the innate and adaptive immune responses. It plays a central role in T-cell lineage commitment, where it controls the TH1 response, and in gene regulation in plasma B-cells and dendritic cells. T-bet is a member of the Tbox family of transcription factors; however, T-bet coordinately regulates the expression of many more genes than other Tbox proteins. A central unresolved question is how T-bet is able to simultaneously recognize distant Tbox binding sites, which may be located thousands of base pairs away...
October 25, 2016: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/27761919/genome-wide-copy-number-analysis-on-dna-from-fetal-cells-isolated-from-the-blood-of-pregnant-women
#20
Steen Kølvraa, Ripudaman Singh, Elizabeth A Normand, Sadeem Qdaisat, Ignatia B Van denVeyver, Laird Jackson, Lotte Hatt, Palle Schelde, Niels Uldbjerg, Else Marie Vestergaard, Li Zhao, Rui Chen, Chad A Shaw, Amy M Breman, Arthur L Beaudet
OBJECTIVE: Non-invasive prenatal testing (NIPT) based on fetal cells in maternal blood has the advantage over NIPT based on circulating cell-free fetal DNA in that there is no contamination with maternal DNA. This will most likely result in better detection of chromosomal aberrations including subchromosomal defects. The objective of this study was to test whether fetal cells enriched from maternal blood can be used for cell-based NIPT. METHODS: We present a method for enriching fetal cells from maternal blood, subsequent amplification of the fetal genome and detection of chromosomal and subchromosomal variations in the genome...
October 19, 2016: Prenatal Diagnosis
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