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カテゴリー「genetics / gene mutation」

Approach to estimate mutagenic effect of polluted water by cytogenetic method on bioindicator species Asellus aquaticus (Isopoda)

Author: Daev Evgeniy Vladislavovich, Dukelskaya Anna Vladimirovna, Kazarova Viktoriya Eduarovna

Reference: Gazette “ЭКОЛОГИЧЕСКАЯ ГЕНЕТИКА“ (Ecologic genetics), 2009

ISSN: 1811-0932

Keywords: chromosomal aberrations, polluted water, Asellus aquaticus, ionizing radiation

Abstract: Elevated frequency of chromosomal aberrations revealed by anatelophase method in ponds and lakes corresponds to higher degree of anthropogenic pressure. Data obtained are compared with the influence of low-dose of ionizing radiation. Validity of the model for estimation of pollution degree and its mutagenic influence risk for human being is discussed.

URL: http://elibrary.ru/item.asp?id=12942922

Cytogenetic comparison of Chironomidae-mosquito populations, Glyptotendipes glaucus (Meigen, 1818) (DIPTERA, CHIRONOMIDAE) of northwest of Russia and Ukraine (Chernobyl zone)

Title: Cytogenetic comparison of Chironomidae-mosquito populations, Glyptotendipes glaucus (Meigen, 1818) (DIPTERA, CHIRONOMIDAE) of northwest of Russia and Ukraine (Chernobyl zone)

Author: Petrova N. A., Zhirov S. V.

Reference:  Ecological Genetics, Volume: 9 Number: 2 Year: 2011 Pages: 9-16

ISSN:  1811-0932

Keywords:  Glyptotendipes glaucus ,   polytene chromosomes ,   inversion ,   functional change ,   water reservoirs of Russia ,   Chernobyl

Abstract: Functional properties of polytene chromosomes and chromosomal rearrangements in the salivary glands of 177 larvae Glyptotendipes glaucus (Diptera, Chironomidae), were being analyzed from the water reservoirs of Russia and Ukraine (Chernobyl). Resemblance of studied populations on the spectrum of chromosomal rearrangements were found.The common types of inversions in the shoulders of A, B, D and E were identified. The effect of Chernobyl contamination on functional changes in the nucleolus, Balbiani rings, puffs, morphology of the disks and interdisks was found.

URL: http://ecolgenet.ru/Arhive/2011_2/EG_11_02_09-16.pdf

Genetic consequences of irradiation in scots pine Pinus sylvestris L. population

Title:  Genetic consequences of irradiation in scots pine Pinus sylvestris L. population

Author: Oficerov M.V., Igonina E.V.

Reference: Genetics, (Russian: “ГЕНЕТИКА”) 2009 Feb; 45(2):209-14.

ISSN: 1022-7954

DOI: 10.1134/S1022795409020082

Keywords: Scots pine, contamination, genetics

Abstract: The genetic consequences of irradiation were studied in a Scots pine population from a region contaminated as a result of the Chernobyl meltdown. Mutations of isozyme loci were not detected in seeds collected from trees of the first post-meltdown generation in 2004. The frequency of cells with chromosome aberrations in the root meristem of seedlings grown from the seeds did not differ from the control level. A deviation from the expected ratio 1:1 was observed for some isozyme alleles in endosperms of seeds obtained from heterozygous trees.

URL: http://www.ncbi.nlm.nih.gov/pubmed/19334615

Determination of the frequency of mutant cells on loci of glycophorin A and T- of cell receptor: to form (determine) group of risk in relationship with development of thyroid cancer

Author: A.O.Vereshagina

Reference: Dissertation, candidate of biology, Obninsk, 2006

Keywords: reevaluation of the relationship between radiation exposure and thyroid cancer, GPA-and-TCR-test, formation of groups of risk

Abstract: … the aim of this work was to elucidate a few questions.

  1. People living in the contaminated areas, suffering from thyroid cancer: Do patients actually have elevated frequency of cells with gene mutations?
  2. Does utilization of GPA-and TCR-test promise the formation of groups of risk for the occurrence of thyroid cancer? Informative evaluation of these tests for dosimetry at different doses to the thyroid gland is also of our interests.

To achieve these objectives, we were supposed to solve the following problems: 1) A comparative study of the frequency of occurrence of mutant cells by TCR-and GPA-loci among 1. residents affected by the Chernobyl disaster areas 2. people unexposed yet being under examination; 2) To determine whether there is a relationship between the dose absorbed by the thyroid and the frequency of mutant cells by GPA-and TCR-loci, among affected residents, as a result of the accident at the Chernobyl nuclear power plant (taking example of residents in Orel region) 3) a comparative study of the frequency of mutant cells, among residents in the Orel region 1. with benign nodular pathology on thyroid gland and 2. without it; 4) a comparative study of the frequency of mutant cells on 2 specified loci in 1. thyroid cancer patients before treatment and 2. healthy individuals; 5) to evaluate the possibility of using these tests for the formation of groups of risk, for the occurrence of thyroid cancer; …

URL: http://www.dissercat.com/content/opredelenie-chastoty-mutantnykh-kletok-po-lokusam-glikoforina-i-t-kletochnogo-retseptora-s-t

The Allium cepa chromosome aberration test reliably measures genotoxicity of soils of inhabited areas in the Ukraine contaminated by the Chernobyl accident

Title: The Allium cepa chromosome aberration test reliably measures genotoxicity of soils of inhabited areas in the Ukraine contaminated by the Chernobyl accident

Author: Olga Kovalchuk, Igor Kovalchuk, Andrey Arkhipov, Polina Telyuk, Barbara Hohn, Larisa Kovalchuk

Reference: Mutation Research/Genetic Toxicology and Environmental Mutagenesis, Volume 415, Issues 1–2, 8 July 1998, Pages 47-57

DOI: http://dx.doi.org/10.1016/S1383-5718(98)00053-9

Keywords: Allium test; Genotoxicity; Cytotoxicity; Chernobyl; Radiation

Abstract: The accident on the Chernobyl Nuclear Power Plant reactor IV in April 1986 led to the release of an enormous amount of radioactive material into the biosphere and to the formation of a complex pattern of nuclear contamination over a large area. As a consequence more than 5 million km2 of the soil in the Ukraine became contaminated with more than 1 Ci/km21 and 2. An assessment of the genetic consequences of the nuclear pollution is one of the most important problems. We applied the Allium cepa test to estimate the impact on plant chromosomes of nuclear pollution in the inhabited zones of the Ukraine. We tested soil from the obligatory resettlement zone (zone 2), where the mean density of pollution is 15–40 Ci/km2; zones of enhanced radiological control-zone 3, 5–15 Ci/km2 and zone 4, 1–5 Ci/km2. We found a dose-dependent increase in the fraction of aberrant mitoses from control values of 1.6±0.9% up to 23.8±5.0%, and a corresponding monotonous decrease of the mitotic index from 49.4±4.8% to a limiting value of 22.5±4.0% at pollution levels exceeding 35 Ci/km2 (activity of the soil samples exceeding 6000 Bq/kg, respectively). We observed a strong, significant correlation of activity of soil samples with the percentage of chromosomal abnormalities, r=0.97 (P<0.05), and with the mitotic index, r=−0.93 (P<0.05), in the roots of A. cepa, respectively. The results showed high toxicity and genotoxicity of radioactively polluted soils and confirmed the efficiency of the A. cepa test as a quick and inexpensive biological test for ecological and genetic risk assessment in the `Chernobyl’ zones.

URL: http://www.sciencedirect.com/science/article/pii/S1383571898000539

Melatonin protection from chronic, low-level ionizing radiation

Title: Melatonin protection from chronic, low-level ionizing radiation
Author: Reiter, Russel J. / Korkmaz, Ahmet / Ma, Shuran / Rosales-Corral, Sergio / Tan, Dun-Xian

Reference: Mutation Research/Reviews in Mutation Research, 751 (1), p.7-14, Jul 2012

doi: 10.1016/j.mrrev.2011.12.002

Keywords: Chronic radiation exposure; Radioisotopes; Lingering radioactivity; Melatonin

Abstract: In the current survey, we summarize the published literature which supports the use of melatonin, an endogenously produced molecule, as a protective agent against chronic, low-level ionizing radiation. Under in vitro conditions, melatonin uniformly was found to protect cellular DNA and plasmid super coiled DNA from ionizing radiation damage due to Cs137 or X-radiation exposure. Likewise, in an in vivo/in vitro study in which humans were given melatonin orally and then their blood lymphocytes were collected and exposed to Cs137 ionizing radiation, nuclear DNA from the cells of those individuals who consumed melatonin (and had elevated blood levels) was less damaged than that from control individuals. In in vivo studies as well, melatonin given to animals prevented DNA and lipid damage (including limiting membrane rigidity) and reduced the percentage of animals that died when they had been exposed to Cs137 or Co60 radiation. Melatonin’s ability to protect macromolecules from the damage inflicted by ionizing radiation likely stems from its high efficacy as a direct free radical scavenger and possibly also due to its ability to stimulate antioxidative enzymes. Melatonin is readily absorbed when taken orally or via any other route. Melatonin’s ease of self administration and its virtual absence of toxicity or side effects, even when consumed over very long periods of time, are essential when large populations are exposed to lingering radioactive contamination such as occurs as a result of an inadvertent nuclear accident, an intentional nuclear explosion or the detonation of a radiological dispersion device, i.e., a “dirty” bomb.

…lower the frequency of cancer initiation. Furthermore, if cancer is initiated, melatonin…Three Mile Island, Chernobyl, and Fukushima [67…increasing the risk of cancer because of its ability…concentrates in the thyroid gland since four atoms…

URL: http://www.sciencedirect.com/science/article/pii/S1383574211001001

Genomic damage in children accidentally exposed to ionizing radiation: A review of the literature

Title: Genomic damage in children accidentally exposed to ionizing radiation: A review of the literature
Author: Fucic, A. / Brunborg, G. / Lasan, R. / Jezek, D. / Knudsen, L.E. / Merlo, D.F.

Reference: Mutation Research/Reviews in Mutation Research, 658 (1-2), p.111-123, Jan 2008
doi: 10.1016/j.mrrev.2007.11.003

Keywords: Child; Ionizing radiation; Environment; Chromosome aberration assay; Micronucleus assay; Chernobyl

Abstract: During the last decade, our knowledge of the mechanisms by which children respond to exposures to physical and chemical agents present in the environment, has significantly increased. Results of recent projects and programmes focused on children’s health underline a specific vulnerability of children to environmental genotoxicants. Environmental research on children predominantly investigates the health effects of air pollution while effects from radiation exposure deserve more attention. The main sources of knowledge on genome damage of children exposed to radiation are studies performed after the Chernobyl nuclear plant accident in 1986. The present review presents and discusses data collected from papers analyzing genome damage in children environmentally exposed to ionizing radiation. Overall, the evidence from the studies conducted following the Chernobyl accident, nuclear tests, environmental radiation pollution and indoor accidental contamination reveals consistently increased chromosome aberration and micronuclei frequency in exposed than in referent children.

Future research in this area should be focused on studies providing information on: (a) effects on children caused by low doses of radiation; (b) effects on children from combined exposure to low doses of radiation and chemical agents from food, water and air; and (c) specific effects from exposure during early childhood (radioisotopes from water, radon in homes). Special consideration should also be given to a possible impact of a radiochemical environment to the development of an adaptive response for genomic damage. Interactive databases should be developed to provide integration of cytogenetic data, childhood cancer registry data and information on environmental contamination. The overall aim is to introduce timely and efficient preventive measures, by means of a better knowledge of the early and delayed health effects in children resulting from radiation exposure.

URL: http://www.sciencedirect.com/science/article/pii/S1383574207000634

High Prevalence of BRAF Mutations in Thyroid Cancer: Genetic Evidence for Constitutive Activation of the RET/PTC-RAS-BRAF Signaling Pathway in Papillary Thyroid Carcinoma1

Title: [CANCER RESEARCH 63, 1454 –1457, April 1, 2003]

High Prevalence of BRAF Mutations in Thyroid Cancer: Genetic Evidence for Constitutive Activation of the RET/PTC-RAS-BRAF Signaling Pathway in Papillary Thyroid Carcinoma1

Author: Edna T. Kimura, Marina N. Nikiforova, Zhaowen Zhu, Jeffrey A. Knauf, Yuri E. Nikiforov, and James A. Fagin2

Reference: [PDF-119K]Jun 2009 [CANCER RESEARCH 63, 1454–1457, April 1, 2003] Advances in Brief

Keywords:

Abstract: Thyroid papillary cancers (PTCs) are associated with activating mutations of genes coding for RET or TRK tyrosine kinase receptors, as well as of RAS genes. Activating mutations of BRAF were reported recently in most melanomas and a small proportion of colorectal tumors. Here we show that a somatic mutation of BRAF, V599E, is the most common genetic change in PTCs (28 of 78; 35.8%). BRAFV599E mutations were unique to PTCs, and not found in any of the other types of differentiated follicular neoplasms arising from the same cell type (0 of 46). Moreover, there was no overlap between PTC with RET/PTC, BRAF, or RAS mutations, which altogether were present in 66% of cases. The lack of concordance for these mutations was highly unlikely to be a chance occurrence. Because these signaling proteins function along the same pathway in thyroid cells, this represents a unique paradigm of human tumorigenesis through mutation of three signaling effectors lying in tandem.

 

…Ohio 45267 Abstract Thyroid papillary cancers…along the same pathway in thyroid cells, this represents…PTCs3 are the most common thyroid malignant tumor. Character…hallmark of this type of cancer. RET/PTC rearrangements…disasters such as the Chernobyl nuclear reactor accident…

URL: http://path.upmc.edu/people/ynlab/Publication%20PDFs/Nikiforova2003CancerResearch.pdf

Acute myeloid leukemia presenting in a mother and daughter pair with the identical acquired karyotypic abnormality consisting of inversion 3q21q26 and monosomy 7: a review of possible mechanisms

Title: Acute myeloid leukemia presenting in a mother and daughter pair with the identical acquired karyotypic abnormality consisting of inversion 3q21q26 and monosomy 7: a review of possible mechanisms
Author: Lawrie, Alastair / Stevenson, David A.J. / Doig, Tamasin N. / Vickers, Mark A. / Culligan, Dominic J

Reference: Cancer Genetics, 205 (11), p.599-602, Nov 2012

doi: 10.1016/j.cancergen.2012.09.001

Keywords: Myeloid; hereditary; monosomy 7; inversion 3q21

Abstract: The 3q21q26 inversion is associated with both myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML), often in association with monosomy 7. In this report, we present a young woman and her mother, both diagnosed with AML, exhibiting similar morphological and identical cytogenetic features. AML with abnormalities of chromosome 3q is often characterized by abnormal megakaryopoeisis and diabetes insipidus, and both were seen in these cases. To our knowledge, this is the first report of familial aggregation of AML displaying an inversion of chromosome 3q and monosomy 7. We discuss possible mechanisms for the development of familial AML with identical karyotypic abnormalities and the link between 3q aberrations and monosomy 7.

 

…within the National Cancer Research Institute…released as a result of the Chernobyl accident in 1986, at…Increases in childhood thyroid cancer were noted in studies…exposed to radiation from Chernobyl is much less strong…

URL: http://www.sciencedirect.com/science/article/pii/S2210776212002323

Sixty years of follow-up of Hiroshima and Nagasaki survivors: Current progress in molecular epidemiology studies

Title: Sixty years of follow-up of Hiroshima and Nagasaki survivors: Current progress in molecular epidemiology studies
Author: Nakachi, Kei / Hayashi, Tomonori / Hamatani, Kiyohiro / Eguchi, Hidetaka / Kusunoki, Yoichiro

Reference: Mutation Research/Reviews in Mutation Research, 659 (1-2), p.109-117, Jul 2008
doi: 10.1016/j.mrrev.2008.02.001

Keywords: Radiation; Atomic-bomb survivors; Somatic mutation; Oxidative stress; Colorectal carcinogenesis; Microsatellite instability; Thyroid carcinogenesis

Abstract: This article provides an overview of the on-going molecular epidemiology studies among atomic-bomb survivors conducted at the Radiation Effects Research Foundation in Japan. The focus is on: (a) inter-individual variations in sensitivity to radiation-induced somatic mutations (glycophorin A (GPA) mutations) and their potential relevance to differences in susceptibility to radiation-related cancers and (b) the role of specific mutations/rearrangements in radiation-induced thyroid and colorectal cancers. The glycophorin A mutant fractions showed large differences between the survivors at each of the estimated bone marrow doses. Of note is the finding at doses ≥1 Gy; that the slope of the mutant fraction was significantly higher in the ‘cancer group’ than in the ‘non-cancer group’. This study provided the basis for validating the use of γH2AX and reticulocyte micronucleus assays for evaluating radiosensitivity differences and genetic instability, respectively, in our studies in the coming years. Preliminary results from our molecular oncology studies on adult-onset papillary thyroid cancer provide evidence for the induction of RET/PTC rearrangements and BRAF point mutation (both known to be early stage events in adult-onset papillary thyroid cancer) but with a difference: cases associated with the rearrangements were more frequent at high doses, and developed sooner than those with BRAF mutation. In the case of colorectal cancer, the results suggest that radiation exposure might influence microsatellite instability (MSI) status through MSI-related epigenetic and genetic alterations—processes that might occur in the early stage of colorectal carcinogenesis.

 

…spontaneous thyroid cancer in the Japanese…variant papillary thyroid cancer was not found in…although this cancer has been frequently…observed among post-Chernobyl children. A major…event in papillary thyroid carcinogenesis is…

URL: http://www.sciencedirect.com/science/article/pii/S1383574208000318

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