Read by QxMD icon Read

ring chromosome

Xue-Lei Tian, Xue Lu, Jiang-Bin Feng, Tian-Jing Cai, Shuang Li, Mei Tian, Qing-Jie Liu
Chromosome damage is related to DNA damage and erroneous repair. It can cause cell dysfunction and ultimately induce carcinogenesis. Histone acetylation is crucial for regulating chromatin structure and DNA damage repair. Ionizing radiation (IR) can alter histone acetylation. However, variations in histone acetylation in response to IR exposure and the relationship between histone acetylation and IR-induced chromosome damage remains unclear. Hence, this study investigated the variation in the total acetylation levels of H3 and H4 in human lymphocytes exposed to 0-2 Gy 60 Co γ-rays...
May 17, 2018: Radiation and Environmental Biophysics
Bagas A Marsudi, Hannie Kartapradja, Chrysantine Paramayuda, Jose R L Batubara, Alida R Harahap, Nanis S Marzuki
Background: A 46,XY sex reversal syndrome is characterized by discordant genetic and phenotypic sex, leading to normal external female genitalia, undeveloped gonads and presence of Müllerian structures in an otherwise 46,XY individual. Chromosome 9pter aberrations, such as ring chromosome have been reported to cause 46,XY disorders of sex development (DSD), due to involvement of DMRT1 gene located at the 9p24.3 region. Case presentation: This study presents a unique case of a 12-year-old female with mos 46,XY, (r)9[31]/45,XY,-9[9] karyotype, presenting with intellectual disability and short stature, mimicking Turner syndrome...
2018: Molecular Cytogenetics
Sonam Verma, Alka Srivastava
Pesticides have brought tremendous benefits to mankind by increasing food production and controlling various crop diseases. But their prolonged and extensive use has been reported to induce toxicity. Biological markers used for the evaluation of toxic effects of pesticides have increased these days. The aim of this study was to determine the morphotoxic and cytogenotoxic effects of pesticide pendimethalin applied to the soil by using morphological and genotoxic biomarkers in the test plant Allium cepa L. A pot experiment was set up in which pendimethalin was added to soil at the rate of 0, 0...
April 30, 2018: Chemosphere
Anna A Kashevarova, Elena O Belyaeva, Aleksandr M Nikonov, Olga V Plotnikova, Nikolay A Skryabin, Tatyana V Nikitina, Stanislav A Vasilyev, Yulia S Yakovleva, Nadezda P Babushkina, Ekaterina N Tolmacheva, Mariya E Lopatkina, Renata R Savchenko, Lyudmila P Nazarenko, Igor N Lebedev
Background: Ring chromosome instability may influence a patient's phenotype and challenge its interpretation. Results: Here, we report a 4-year-old girl with a compound phenotype. Cytogenetic analysis revealed her karyotype to be 46,XX,r(22). aCGH identified a 180 kb 22q13.32 duplication, a de novo 2.024 Mb subtelomeric 22q13.32-q13.33 deletion, which is associated with Phelan-McDermid syndrome, and a maternal single gene 382-kb TUSC7 deletion of uncertain clinical significance located in the region of the 3q13...
2018: Molecular Cytogenetics
Xingya Xu, Ryuta Kanai, Norihiko Nakazawa, Li Wang, Chikashi Toyoshima, Mitsuhiro Yanagida
Cohesin is a fundamental protein complex that holds sister chromatids together. Separase protease cleaves a cohesin subunit Rad21/SCC1, causing the release of cohesin from DNA to allow chromosome segregation. To understand the functional organization of cohesin, we employed next-generation whole-genome sequencing and identified numerous extragenic suppressors that overcome either inactive separase/Cut1 or defective cohesin in the fission yeast Schizosaccharomyces pombe Unexpectedly, Cut1 is dispensable if suppressor mutations cause disorders of interfaces among essential cohesin subunits Psm1/SMC1, Psm3/SMC3, Rad21/SCC1, and Mis4/SCC2, the crystal structures of which suggest physical and functional impairment at the interfaces of Psm1/3 hinge, Psm1 head-Rad21, or Psm3 coiled coil-Rad21...
May 7, 2018: Proceedings of the National Academy of Sciences of the United States of America
Suzanna G M Frints, Aysegul Ozanturk, Germán Rodríguez Criado, Ute Grasshoff, Bas de Hoon, Michael Field, Sylvie Manouvrier-Hanu, Scott E Hickey, Molka Kammoun, Karen W Gripp, Claudia Bauer, Christopher Schroeder, Annick Toutain, Theresa Mihalic Mosher, Benjamin J Kelly, Peter White, Andreas Dufke, Eveline Rentmeester, Sungjin Moon, Daniel C Koboldt, Kees E P van Roozendaal, Hao Hu, Stefan A Haas, Hans-Hilger Ropers, Lucinda Murray, Eric Haan, Marie Shaw, Renee Carroll, Kathryn Friend, Jan Liebelt, Lynne Hobson, Marjan De Rademaeker, Joep Geraedts, Jean-Pierre Fryns, Joris Vermeesch, Martine Raynaud, Olaf Riess, Joost Gribnau, Nicholas Katsanis, Koen Devriendt, Peter Bauer, Jozef Gecz, Christelle Golzio, Cristina Gontan, Vera M Kalscheuer
RLIM, also known as RNF12, is an X-linked E3 ubiquitin ligase acting as a negative regulator of LIM-domain containing transcription factors and participates in X-chromosome inactivation (XCI) in mice. We report the genetic and clinical findings of 84 individuals from nine unrelated families, eight of whom who have pathogenic variants in RLIM (RING finger LIM domain-interacting protein). A total of 40 affected males have X-linked intellectual disability (XLID) and variable behavioral anomalies with or without congenital malformations...
May 4, 2018: Molecular Psychiatry
Simon Jenni, Stephen C Harrison
Kinetochores connect mitotic-spindle microtubules with chromosomes, allowing microtubule depolymerization to pull chromosomes apart during anaphase while resisting detachment as the microtubule shortens. The heterodecameric DASH/Dam1 complex (DASH/Dam1c), an essential component of yeast kinetochores, assembles into a microtubule-encircling ring. The ring associates with rodlike Ndc80 complexes to organize the kinetochore-microtubule interface. We report the cryo-electron microscopy structure (at ~4.5-angstrom resolution) of a DASH/Dam1c ring and a molecular model of its ordered components, validated by evolutionary direct-coupling analysis...
May 4, 2018: Science
Peter G Wolf, Alexander Cuba Ramos, Julia Kenzel, Brigitte Neumann, Olaf Stemmann
The DNA embracing, ring-shaped, multiprotein complex cohesin mediates sister chromatid cohesion and is stepwise displaced in mitosis by Wapl and Separase to facilitate anaphase. Proper regulation of chromosome cohesion throughout meiosis is critical to prevent formation of aneuploid gametes, which are associated with trisomies and infertility in humans. Studying cohesion in meiocytes is complicated by their difficult experimental amenability and the absence of cohesin turnover. Here, we use cultured somatic cells to unravel fundamental aspects of meiotic cohesin...
May 3, 2018: Journal of Cell Science
Thiago Corrêa, Rafaella Mergener, Júlio César Loguercio Leite, Marcial Francis Galera, Lilia Maria de Azevedo Moreira, José Eduardo Vargas, Mariluce Riegel
Deletions in the 4p16.3 region are associated with Wolf-Hirschhorn syndrome (WHS), a contiguous gene deletion syndrome involving variable size deletions. In this study, we perform a cytogenomic integrative analysis combining classical cytogenetic methods, fluorescence in situ hybridization (FISH), chromosomal microarray analysis (CMA), and systems biology strategies, to establish the cytogenomic profile involving the 4p16.3 critical region and suggest WHS-related intracellular cell signaling cascades. The cytogenetic and clinical patient profiles were evaluated...
2018: BioMed Research International
Bi Ning Zhang, Andrés Bueno Venegas, Ian D Hickson, Wai Kit Chu
Genome instability and cell cycle dysregulation are commonly associated with cancer. DNA replication stress driven by oncogene activation during tumorigenesis is now well established as a source of genome instability. Replication stress generates DNA damage not only during S phase, but also in the subsequent mitosis, where it impacts adversely on chromosome segregation. Some regions of the genome seem particularly sensitive to replication stress-induced instability; most notably, chromosome fragile sites. In this article, we review some of the important issues that have emerged in recent years concerning DNA replication stress and fragile site expression, as well as how chromosome instability is minimized by a family of ring-shaped protein complexes known as SMC proteins...
April 21, 2018: Seminars in Cancer Biology
Sue A Flores, Matthew Howell, Jeremy J Daniel, Rebecca Piccolo, Pamela J B Brown
In A. tumefaciens , the essential FtsZ protein is located at the growth pole before shifting to the mid-cell right before division. Loss of FtsZ causes a halt in cell separation and lysis of cells. To understand how FtsZ polymerization is regulated to properly localize the FtsZ ring at the mid-cell, we have conducted a systematic characterization of the Min system in A. tumefaciens . Our findings indicate that the Min system is not required for cell survival. Yet, we find that the deletion of either minE or minCDE results in a broad cell size distribution, including an increase in the proportion of short and long cells...
2018: Frontiers in Microbiology
Pirro G Hysi, Ana M Valdes, Fan Liu, Nicholas A Furlotte, David M Evans, Veronique Bataille, Alessia Visconti, Gibran Hemani, George McMahon, Susan M Ring, George Davey Smith, David L Duffy, Gu Zhu, Scott D Gordon, Sarah E Medland, Bochao D Lin, Gonneke Willemsen, Jouke Jan Hottenga, Dragana Vuckovic, Giorgia Girotto, Ilaria Gandin, Cinzia Sala, Maria Pina Concas, Marco Brumat, Paolo Gasparini, Daniela Toniolo, Massimiliano Cocca, Antonietta Robino, Seyhan Yazar, Alex W Hewitt, Yan Chen, Changqing Zeng, Andre G Uitterlinden, M Arfan Ikram, Merel A Hamer, Cornelia M van Duijn, Tamar Nijsten, David A Mackey, Mario Falchi, Dorret I Boomsma, Nicholas G Martin, David A Hinds, Manfred Kayser, Timothy D Spector
Hair color is one of the most recognizable visual traits in European populations and is under strong genetic control. Here we report the results of a genome-wide association study meta-analysis of almost 300,000 participants of European descent. We identified 123 autosomal and one X-chromosome loci significantly associated with hair color; all but 13 are novel. Collectively, single-nucleotide polymorphisms associated with hair color within these loci explain 34.6% of red hair, 24.8% of blond hair, and 26.1% of black hair heritability in the study populations...
April 16, 2018: Nature Genetics
Cristina Ribeiro Dias Barroso, Leonardo Silveira Gomes, Vinícius Abrantes Silvestre, Claudia Yamada Utagawa
Ring chromosome 15 syndrome is a rare condition, with approximately 50 cases reported in the literature. We report a 2-year-old girl with ring chromosome 15 syndrome with hyperpigmented and hypopigmented patches and cognitive and physical manifestations.
April 15, 2018: Pediatric Dermatology
Shu Liu, Zhiqing Wang, Sisi Wei, Jinqun Liang, Nuan Chen, Haimei OuYang, Weihong Zeng, Liying Chen, Xunjie Xie, Jianhui Jiang
Ring chromosome 6, r(6), is an extremely rare cytogenetic abnormality with clinical heterogeneity which arises typically de novo. The phenotypes of r(6) can be highly variable, ranging from almost normal to severe malformations and neurological defects. Up to now, only 33 cases have been reported in the literature. In this 10-year follow-up study, we report a case presenting distinctive facial features, severe developmental delay, and gray matter heterotopia with r(6) and terminal deletions of 6p25.3 (115426-384174, 268 kb) and 6q26-27 (168697778-170732033, 2...
April 14, 2018: Cytogenetic and Genome Research
Antonella Testa, Francesca Ballarini, Ulrich Giesen, Octávia Monteiro Gil, Mario P Carante, John Tello, Frank Langner, Hans Rabus, Valentina Palma, Massimo Pinto, Clarice Patrono
There is a continued need for further clarification of various aspects of radiation-induced chromosomal aberration, including its correlation with radiation track structure. As part of the EMRP joint research project, Biologically Weighted Quantities in Radiotherapy (BioQuaRT), we performed experimental and theoretical analyses on chromosomal aberrations in Chinese hamster ovary cells (CHO-K1) exposed to α particles with final energies of 5.5 and 17.8 MeV (absorbed doses: ∼2.3 Gy and ∼1.9 Gy, respectively), which were generated by the microbeam at the Physikalisch-Technische Bundesanstalt (PTB) in Braunschweig, Germany...
April 6, 2018: Radiation Research
Ge Zheng, Mohammed Kanchwala, Chao Xing, Hongtao Yu
DNA replication transforms cohesin rings dynamically associated with chromatin into the cohesive form to establish sister-chromatid cohesion. Here, we show that, in human cells, cohesin loading onto chromosomes during early S phase requires the replicative helicase MCM2-7 and the kinase DDK. Cohesin and its loader SCC2/4 (NIPBL/MAU2 in humans) associate with DDK and phosphorylated MCM2-7. This binding does not require MCM2-7 activation by CDC45 and GINS, but its persistence on activated MCM2-7 requires fork-stabilizing replisome components...
April 3, 2018: ELife
Wang Lai Hu, Lei Jin, An Xu, Yu Fang Wang, Rick F Thorne, Xu Dong Zhang, Mian Wu
The list of long non-coding RNAs (lncRNAs) involved in the p53 pathway of the DNA damage response is rapidly expanding, but whether lncRNAs have a role in maintaining the de novo structure of DNA is unknown. Here, we demonstrate that the p53-responsive lncRNA GUARDIN is important for maintaining genomic integrity under steady-state conditions and after exposure to exogenous genotoxic stress. GUARDIN is necessary for preventing chromosome end-to-end fusion through maintaining the expression of telomeric repeat-binding factor 2 (TRF2) by sequestering microRNA-23a...
April 2018: Nature Cell Biology
Dian Xiong, Shu-Qiang Zhu, Yong-Bing Wu, Chun Jin, Jia-Hao Jiang, Yun-Fei Liao, Xiang Long, Hai-Bo Wu, Jian-Jun Xu, Ji-Jun Li, Jian-Yong Ding
Objectives: Ring finger protein 38 (RNF38), as an E3 ubiquitin ligase, plays an essential role in multiple biological processes by controlling cell apoptosis, cell cycle and DNA repair, and resides in chromosome 9 (9p13) which is involvement in cancer pathogenesis including lung cancer. However, its function in tumorigenesis remains unclear. Hence, this study set out to investigate the biological function and clinical implications of RNF38 in non-small cell lung cancer (NSCLC). Materials and Methods: Immunohistochemistry, quantitative real-time polymerase chain reaction (qRT-PCR) and western blot were used to detect RNF38 protein and mRNA levels in NSCLC and corresponding paratumor tissues...
2018: Journal of Cancer
Sheng He, Kai Feng, Tao Ding, Kaihui Huang, Hai Yan, Xiaolu Liu, Zhongbao Zhang
The biodegradation of Aflatoxin B1 (AFB1 ) is an industry of increasing importance. Bacillus licheniformis BL-010 was isolated from the aflatoxin contaminated corn feed storage, and was shown to degrade AFB1 efficiently. Here we present the complete genome sequence of BL-010, the genome comprises 4,287,714 bp in a circular chromosome with a GC content of 46.12% and contains genes encoding AFB1 degrading enzymes. The genome sequence displayed that this strain contains genes involved in production of laccase, aromatic ring-opening dioxygenase which could detoxify AFB1 ...
March 22, 2018: Microbial Pathogenesis
Katsuya Iuchi, Tatsuo Yagura
We previously showed that heterocyclic organobismuth compounds have excellent antimicrobial and antitumor potential. These compounds structurally consist of either six- or eight-membered rings. Previous research has shown that bi-chlorodibenzo[c,f][1,5]thiabismocine (Compound 3), an eight-membered ring, induced G2 /M arrest via inhibition of tubulin polymerization in HeLa cells. Additionally, N-tert-butyl-bi-chlorodi-benzo[c,f][1,5]azabismocine (Compound 1), another eight-membered ring, exhibited higher cytotoxicity than Compound 3 against several cancer cell lines, including HeLa and K562...
March 21, 2018: Toxicology in Vitro: An International Journal Published in Association with BIBRA
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"