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Dicentric

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https://www.readbyqxmd.com/read/28498391/hypospadias-in-a-male-infant-with-an-unusual-mosaic-45-x-46-x-psu-idic-y-p11-32-46-xy-and-haploinsufficiency-of-shox-a-case-report
#1
Yan-Mei Si, Yuan Dong, Wei Wang, Ke-Yan Qi, Xin Wang
A male newborn presented with hypospadias and differential testicular volumes. Short femur length was detected four times during pregnancy, at 23, 31, 32 and 33 weeks, by ultrasonographic examination. Chromosome analysis was performed on peripheral lymphocytes obtained from the infant and his parents. Fluorescent in situ hybridization (FISH), using sex determining region Y (SRY)/DXZ1 and DYZ3 probes, was performed to verify the deletion of the SRY gene (located on Yp11.3 region) and the activation of Y chromosomal centromeres...
May 10, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28494764/possible-benefits-of-tomato-juice-consumption-a-pilot-study-on-irradiated-human-lymphocytes-from-healthy-donors
#2
Ayumi Nakamura, Chieko Itaki, Ayako Saito, Toko Yonezawa, Koichi Aizawa, Ayumi Hirai, Hiroyuki Suganuma, Tomisato Miura, Yasushi Mariya, Siamak Haghdoost
BACKGROUND: Reactive oxygen species (ROS) mediate much of the DNA damage caused by ionizing radiation. Among carotenoids, lycopene and β-carotene, present in tomato juice, are known to be strong radical scavengers. The aim of the study was to investigate the effect of tomato juice intake on the levels of DNA damage and oxidative stress in human whole blood induced by in vitro exposure to X-rays. METHODS: Ten healthy adults were asked to drink 190 g of tomato juice, containing 17 mg lycopene and 0...
May 12, 2017: Nutrition Journal
https://www.readbyqxmd.com/read/28363014/chromosomal-aberrations-in-large-japanese-field-mice-apodemus-speciosus-captured-near-fukushima-dai-ichi-nuclear-power-plant
#3
Taiki Kawagoshi, Naoko Shiomi, Hiroyuki Takahashi, Yoshito Watanabe, Shoichi Fuma, Kazutaka Doi, Isao Kawaguchi, Masanari Aoki, Masahide Kubota, Yoshiaki Furuhata, Yusaku Shigemura, Masahiko Mizoguchi, Fumio Yamada, Morihiko Tomozawa, Shinsuke H Sakamoto, Satoshi Yoshida, Yoshihisa Kubota
Since the Fukushima Dai-ichi Nuclear Power Plant accident, radiation effects on nonhuman biota in the contaminated areas have been a major concern. Here, we analyzed the frequencies of chromosomal aberrations (translocations and dicentrics) in the splenic lymphocytes of large Japanese field mice (Apodemus speciosus) inhabiting Fukushima Prefecture. A. speciosus chromosomes 1, 2, and 5 were flow-sorted in order to develop A. speciosus chromosome-specific painting probes, and FISH (fluorescence in situ hybridization) was performed using these painting probes to detect the translocations and dicentrics...
April 18, 2017: Environmental Science & Technology
https://www.readbyqxmd.com/read/28333343/centromere-destiny-in-dicentric-chromosomes-new-insights-from-the-evolution-of-human-chromosome-2-ancestral-centromeric-region
#4
Giorgia Chiatante, Giuliana Giannuzzi, Francesco Maria Calabrese, Evan E Eichler, Mario Ventura
Dicentric chromosomes are products of genomic rearrangements that place two centromeres on the same chromosome. Due to the presence of two primary constrictions, they are inherently unstable and overcome their instability by epigenetically inactivating and/or deleting one of the two centromeres, thus resulting in functionally monocentric chromosomes that segregate normally during cell division. Our understanding to date of dicentric chromosome formation, behavior and fate has been largely inferred from observational studies in plants and humans as well as artificially produced de novo dicentrics in yeast and in human cells...
March 15, 2017: Molecular Biology and Evolution
https://www.readbyqxmd.com/read/28328310/developing-human-radiation-biodosimetry-models-testing-cross-species-conversion-approaches-using-an-ex-vivo-model-system
#5
Jin G Park, Sunirmal Paul, Natalia Briones, Jia Zeng, Kristin Gillis, Garrick Wallstrom, Joshua LaBaer, Sally A Amundson
In the event of a large-scale radiation exposure, accurate and quick assessment of radiation dose received would be critical for triage and medical treatment of large numbers of potentially exposed individuals. Current methods of biodosimetry, such as the dicentric chromosome assay, are time consuming and require sophisticated equipment and highly trained personnel. Therefore, scalable biodosimetry approaches, including gene expression profiles in peripheral blood cells, are being investigated. Due to the limited availability of appropriate human samples, biodosimetry development has relied heavily on mouse models, which are not directly applicable to human response...
March 22, 2017: Radiation Research
https://www.readbyqxmd.com/read/28259884/the-dicentric-chromosome-dic-20-22-is-a-recurrent-abnormality-in-myelodysplastic-syndromes-and-is-a-product-of-telomere-fusion
#6
Ruth N MacKinnon, Hendrika M Duivenvoorden, Lynda J Campbell, Meaghan Wall
We describe a recurrent dicentric chromosome formed by telomere fusion between chromosome 20 and chromosome 22 in 4 cases of myelodysplastic syndromes (MDS) or acute myeloid leukaemia (AML). In particular, the presence of residual telomere sequences at the site of translocation in 3 of the 4 cases makes a compelling case for telomere fusion. This is the first description of a recurrent telomere fusion event in any malignant condition. The 20q subtelomeric region was retained in all 4 examples despite deletion of the 20q12 region closer to the centromere...
2016: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28250914/the-application-of-imaging-flow-cytometry-to-high-throughput-biodosimetry
#7
REVIEW
Ruth C Wilkins, Matthew A Rodrigues, Lindsay A Beaton-Green
Biodosimetry methods, including the dicentric chromosome assay, the cytokinesis-block micronucleus assay and the γH2AX marker of DNA damage are used to determine the dose of ionizing radiation. These techniques are particularly useful when physical dosimetry is absent or questioned. While these assays can be very sensitive and specific, the standard methods need to be adapted to increase sample throughput in the case of a large-scale radiological/nuclear event. Recent modifications to the microscope-based assays have resulted in some increased throughput, and a number of biodosimetry networks have been, and continue to be, established and strengthened...
2017: Genome Integrity
https://www.readbyqxmd.com/read/28250910/optimizing-the-microscopy-time-schedule-for-chromosomal-dosimetry-of-high-dose-and-partial-body-irradiations
#8
Volodymyr A Vinnikov
The methodology of cytogenetic triage can be improved by optimizing a schedule of microscopy for different exposure scenarios. Chromosome aberrations were quantified by microscopy in human blood lymphocytes irradiated in vitro to ~2, 4, and 12 Gy acute (60)Co γ-rays mixed with the unirradiated blood simulating 10%, 50%, 90%, and 100% exposure and in along with a sample from a homogeneous exposure to ~20 Gy. Biodosimetry workload was statistically modeled assuming that 0.5, 1, 5, or 25 h was available for scoring one case or for analysis of up to 1000 cells or 100 dicentrics plus centric rings by one operator...
2017: Genome Integrity
https://www.readbyqxmd.com/read/28247607/-assessment-of-hematopoiesis-and-cytogenetics-changes-in-interventional-radiologists
#9
Qihong Zhou, Huijuan Yu, Fengyun Fu, Haipeng Ye
Objective: To investigate hematopoiesis and cytogenetics changes in staff of interventional radiology. Methods: A total of 121 intervention radiation workers, 245 common radiation workers and 100 medical personnel (healthy control) without exposure to radiation were enrolled in the study. The peripheral lymphocyte chromosomal aberrations and micronucleus were detected, and the result of white blood cells examination was analyzed. Results: Compared with common radiation group and healthy control group, decreases in white blood cells count, neutrophil ratio, and increase in lymphocyte ratio were observed in intervention radiation group (all P<0...
May 25, 2016: Zhejiang da Xue Xue Bao. Yi Xue Ban, Journal of Zhejiang University. Medical Sciences
https://www.readbyqxmd.com/read/28230827/astaxanthin-modifies-clastogenic-effects-of-ionizing-radiation-in-vitro-in-peripheral-blood-lymphocytes-of-the-persons-recovered-from-acute-radiation-sickness
#10
D А Kurinnyi, S R Rushkovsky, O B Dybska, G V Dubrovina, M А Pilinska
AIM: To assess radioprotective activity of astaxanthin toward radiation-induced in vitro cytogenetic effects in human peripheral blood lymphocytes (PBL). MATERIALS AND METHODS: PBL from the cleanup workers exposed to ionizing radiation at high doses in 1986 during accident on Chornobyl nuclear power plant and who were diagnosed with acute radiation sickness of the first and second degrees, were cultured in vitro. Astaxanthin was added into the culture medium at a final concentration of 20...
December 2016: Experimental Oncology
https://www.readbyqxmd.com/read/28218888/using-clinical-signs-and-symptoms-for-medical-management-of-radiation-casualties-2015-nato-exercise
#11
H Dörr, M Abend, W F Blakely, D L Bolduc, D Boozer, T Costeira, T Dant, A De Amicis, S De Sanctis, M Dondey, M Drouet, F Entine, S Francois, G Gagna, N Guitard, F Hérodin, M Hoefer, A Lamkowski, G La Sala, F Lista, P Loiacono, M Majewski, P Martigne, D Métivier, X Michel, J Pateux, J Pejchal, G Reeves, D Riccobono, Z Sinkorova, L Soyez, D Stricklin, A Tichy, M Valente, C R Woodruff, L Zarybnicka, M Port
The utility of early-phase (≤5 days) radiation-induced clinical signs and symptoms (e.g., vomiting, diarrhea, erythema and changes in blood cell counts) was examined for the prediction of later occurring acute radiation syndrome (ARS) severity and the development of medical management strategies. Medical treatment protocols for radiation accident victims (METREPOL) was used to grade ARS severities, which were assigned response categories (RCs). Data on individuals (n = 191) with mild (RC1, n = 45), moderate (RC2, n = 19), severe (RC3, n = 20) and fatal (RC4, n = 18) ARS, as well as nonexposed individuals (RC0, n = 89) were generated using either METREPOL (n = 167) or the system for evaluation and archiving of radiation accidents based on case histories (SEARCH) database (n = 24), the latter comprised of real-case descriptions...
February 20, 2017: Radiation Research
https://www.readbyqxmd.com/read/28217965/copy-number-variations-in-testicular-maturation-arrest
#12
A Halder, P Kumar, M Jain, V K Iyer
Testicular maturation arrest is characterized by interruption of germ cell development and differentiation. Genetic factors play important role in the causation of human disease, including male infertility. The objective was to study copy number variations in testicular maturation arrest using single nucleotide polymorphism (SNP) microarray technique. Conventional cytogenetics, targeted fluorescence in situ hybridization (FISH) and sequence-tagged site (STS) polymerase chain reaction (PCR) were used to confirm some of the SNP microarray findings...
May 2017: Andrology
https://www.readbyqxmd.com/read/28155885/regulation-of-pairing-between-broken-dna-containing-chromatin-regions-by-ku80-dna-pkcs-atm-and-53bp1
#13
Motohiro Yamauchi, Atsushi Shibata, Keiji Suzuki, Masatoshi Suzuki, Atsuko Niimi, Hisayoshi Kondo, Miwa Miura, Miyako Hirakawa, Keiko Tsujita, Shunichi Yamashita, Naoki Matsuda
Chromosome rearrangement is clinically and physiologically important because it can produce oncogenic fusion genes. Chromosome rearrangement requires DNA double-strand breaks (DSBs) at two genomic locations and misrejoining between the DSBs. Before DSB misrejoining, two DSB-containing chromatin regions move and pair with each other; however, the molecular mechanism underlying this process is largely unknown. We performed a spatiotemporal analysis of ionizing radiation-induced foci of p53-binding protein 1 (53BP1), a marker for DSB-containing chromatin...
February 3, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28144741/the-influence-of-reference-radiation-photon-energy-on-high-let-rbe-comparison-of-human-peripheral-lymphocytes-and-human-hamster-hybrid-al-cells
#14
T E Schmid, C Greubel, G Dollinger, E Schmid
The relative biological effectiveness (RBE) based on the induction of dicentrics in any cell type is principally an important information for the increasing application of high-LET radiation in cancer therapy. Since the standard system of human lymphocytes for measuring dicentrics are not compatible with our microbeam irradiation setup where attaching cells are essential, we used human-hamster hybrid AL cells which do attach on foils and fulfil the special experimental requirement for microbeam irradiations...
January 31, 2017: Radiation and Environmental Biophysics
https://www.readbyqxmd.com/read/28126644/evaluation-of-the-potential-of-mobile-phone-specific-electromagnetic-fields-umts-to-produce-micronuclei-in-human-glioblastoma-cell-lines
#15
Halh Al-Serori, Michael Kundi, Franziska Ferk, Miroslav Mišík, Armen Nersesyan, Manuel Murbach, Tamara T Lah, Siegfried Knasmüller
Some epidemiological studies indicate that mobile phones cause glioblastomas in humans. Since it is known that genomic instability plays a key role in the etiology of cancer, we investigated the effects of the universal mobile telecommunications system radiofrequency (UMTS-RF) signal, which is used in "smart" phones, on micronucleus (MN) formation and other anomalies such as nuclear buds (NBUDs) and nucleoplasmatic bridges (NPBs). MN are formed by structural and numerical aberrations, NBs reflect gene amplification and NPBs are formed from dicentric chromosomes...
January 24, 2017: Toxicology in Vitro: An International Journal Published in Association with BIBRA
https://www.readbyqxmd.com/read/28060322/analysis-of-the-ambient-particulate-matter-induced-chromosomal-aberrations-using-an-in-vitro-system
#16
Isabelle R Miousse, Igor Koturbash, Marie-Cécile Chalbot, Martin Hauer-Jensen, Ilias Kavouras, Rupak Pathak
Exposure to particulate matter (PM) is a major world health concern, which may damage various cellular components, including the nuclear genetic material. To assess the impact of PM on nuclear genetic integrity, structural chromosomal aberrations are scored in the metaphase spreads of mouse RAW264.7 macrophage cells. PM is collected from ambient air with a high volume total suspended particles sampler. The collected material is solubilized and filtered to retain the water-soluble, fine portion. The particles are characterized for chemical composition by nuclear magnetic resonance (NMR) spectroscopy...
December 21, 2016: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/28010925/effects-of-chronic-restraint-induced-stress-on-radiation-induced-chromosomal-aberrations-in-mouse-splenocytes
#17
Takanori Katsube, Bing Wang, Kaoru Tanaka, Yasuharu Ninomiya, Guillaume Varès, Taiki Kawagoshi, Naoko Shiomi, Yoshihisa Kubota, Qiang Liu, Akinori Morita, Tetsuo Nakajima, Mitsuru Nenoi
Both ionizing radiation (IR) and psychological stress (PS) cause detrimental effects on humans. A recent study showed that chronic restraint-induced PS (CRIPS) diminished the functions of Trp53 and enhanced radiocarcinogenesis in Trp53-heterozygous (Trp53(+/-)) mice. These findings had a marked impact on the academic field as well as the general public, particularly among residents living in areas radioactively contaminated by nuclear accidents. In an attempt to elucidate the modifying effects of CRIPS on radiation-induced health consequences in Trp53 wild-type (Trp53(+/+)) animals, investigations involving multidisciplinary analyses were performed...
January 2017: Mutation Research
https://www.readbyqxmd.com/read/27966372/increased-first-trimester-nuchal-translucency-associated-with-a-dicentric-chromosome-and-9q34-3-microdeletion-syndrome
#18
Lv-Yin Huang, Yu Yang, Ping He, Dong-Zhi Li
We present prenatal diagnosis and chromosomal microarray analysis (CMA) of 9q34.3 microdeletion in a foetus with an increased nuchal translucency (NT). Conventional G-banding analysis showed a de novo translocation: 45, XX, dic (9;13)(q34;p13). CMA revealed a 3.6 Mb 9q34.3 microdeletion encompassing an OMIM gene of EHMT1 consistent with the diagnosis of Kleefstra syndrome and 9q subtelomeric deletion syndrome. We suggest an application of CMA at prenatal diagnosis in pregnancies with increased NT and an apparent balanced translocation on conventional karyotype...
December 14, 2016: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/27910025/cytogenetics-for-biological-dosimetry
#19
Michelle Ricoul, Tamizh Gnana-Sekaran, Laure Piqueret-Stephan, Laure Sabatier
Cytogenetics is the gold-standard in biological dosimetry for assessing a received dose of ionizing radiation. More modern techniques have recently emerged, but none are as specific as cytogenetic approaches, particularly the dicentric assay. Here, we will focus on the principal cytogenetic techniques used for biological dosimetry: the dicentric assay in metaphase cells, the micronuclei assay in binucleated cells, and the premature condensed chromosome (PCC) assay in interphase cells. New fluorescence in situ hybridization (FISH) techniques (such as telomere-centromere hybridization) have facilitated the analysis of the dicentric assay and have permitted to assess the dose a long time after irradiation by translocation analysis (such as by Tri-color FISH or Multiplex-FISH)...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/27894682/molecular-mechanisms-by-which-in-vivo-exposure-to-exogenous-chemical-genotoxic-agents-can-lead-to-micronucleus-formation-in-lymphocytes-in-vivo-and-ex-vivo-in-humans
#20
REVIEW
Michael Fenech, Siegfried Knasmueller, Claudia Bolognesi, Stefano Bonassi, Nina Holland, Lucia Migliore, Fabrizio Palitti, Adayapalam T Natarajan, Micheline Kirsch-Volders
The purpose of this review is to summarise current knowledge on the molecular mechanisms by which in vivo exposure to exogenous chemical genotoxins in humans induces micronuclei (MNi) and other nuclear anomalies in lymphocytes in vivo and ex vivo after nuclear division in vitro. MNi originate from acentric chromosome fragments and/or whole chromosomes that are unable to engage with the mitotic spindle and/or fail to segregate properly to the daughter nuclei during anaphase. The lagging fragments or whole chromosomes are surrounded by membrane and become MNi...
October 2016: Mutation Research
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