Nijmegen breakage syndrome (NBS), also known as ataxia-telangiectasia (AT) variant, is an autosomal recessive disorder characterized by microcephaly, growth retardation, severe combined immunodeficiency and a high incidence of lymphoid cancers. Cells from NBS patients display chromosome instability, hypersensitivity to ionizing radiation and abnormal cell-cycle regulation after irradiation, all of which are characteristics shared with AT. Recently, the NBS locus was mapped at 8q21 by two independent approaches, complementation studies and linkage analysis. Here, we report the positional cloning of the NBS gene, NBS1, from an 800-kb candidate region. The gene comprises 50 kb and encodes a protein of 754 amino acids. The amino-terminal region of the protein shows weak homology to the yeast XRS2, MEK1, CDS1 and SPK1 proteins. The gene is expressed at high levels in the testes, suggesting that it might be involved in meiotic recombination. We detected the same 5-bp deletion in 13 individuals, and conclude that it is likely to be a founder mutation.

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In this report, we have reviewed the basic features of the accident processes and radioactivity releases that occurred in the Chernobyl accident (1986) and in the Fukushima-1 accident (2011). The Chernobyl accident was a power-surge accident that was caused by a failure of control of a fission chain reaction, which instantaneously destroyed the reactor and building, whereas the Fukushima-1 accident was a loss-of-coolant accident in which the reactor cores of three units were melted by decay heat after losing the electricity supply. Although the quantity of radioactive noble gases released from Fukushima-1 exceeded the amount released from Chernobyl, the size of land area severely contaminated by 137Cesium (137Cs) was 10 times smaller around Fukushima-1 compared with around Chernobyl. The differences in the accident process are reflected in the composition of the discharged radioactivity as well as in the composition of the ground contamination. Volatile radionuclides (such as 132Te-132I, 131I, 134Cs and 137Cs) contributed to the gamma-ray exposure from the ground contamination around Fukishima-1, whereas a greater variety of radionuclides contributed significantly around Chernobyl. When radioactivity deposition occurred, the radiation exposure rate near Chernobyl is estimated to have been 770 μGy h−1 per initial 137Cs deposition of 1000 kBq m−2, whereas it was 100 μGy h−1 around Fukushima-1. Estimates of the cumulative exposure for 30 years are 970 and 570 mGy per initial deposition of 1000 kBq m−2 for Chernobyl and Fukusima-1, respectively. Of these exposures, 49 and 98% were contributed by radiocesiums (134Cs + 137Cs) around Chernobyl and Fukushima-1, respectively.

Following the news that the radiation level in Iitate Village, located 25-45 km from the Fukushima Daiichi Nuclear Power Plant, was seriously increased, an urgent field survey was carried out on 28 and 29 March 2011. Radiation levels at 130 locations were measured inside a van that traveled throughout the village using a CsI pocket survey meter and an ionization chamber. Soil samples were also taken at five locations and submitted to gamma ray analysis using a Ge detector. A radiation exposure rate of more than 20 μSv h was observed in the southern part of Iitate Village. Volatile radionuclides such as iodine and cesium were found to be the main components of radioactive contamination. A trace amount of plutonium isotopes originating from the accident was also confirmed in several soil samples, the level of which was less than the global fallout. Based on the measured density of radionuclides at the highest contamination location during the present survey, an exposure rate of about 200 μGy h at 1 m above the ground was estimated at the time of the radioactive deposition on March 15. At this location, the cumulative exposure would reach 50 mGy in the middle of May 2011.

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In the summer of 2012, 1 year after the nuclear accident in March 2011 at the Fukushima Daiichi nuclear power plant, we examined the effects of gamma radiation on rice at a highly contaminated field of Iitate village in Fukushima, Japan. We investigated the morphological and molecular changes on healthy rice seedlings exposed to continuous low-dose gamma radiation up to 4 µSv h(-1), about 80 times higher than natural background level. After exposure to gamma rays, expression profiles of selected genes involved in DNA replication/repair, oxidative stress, photosynthesis, and defense/stress functions were examined by RT-PCR, which revealed their differential expression in leaves in a time-dependent manner over 3 days (6, 12, 24, 48, and 72 h). For example, OsPCNA mRNA rapidly increased at 6, 12, and 24 h, suggesting that rice cells responded to radiation stress by activating a gene involved in DNA repair mechanisms. At 72 h, genes related to the phenylpropanoid pathway (OsPAL2) and cell death (OsPR1oa) were strongly induced, indicating activation of defense/stress responses. We next profiled the transcriptome using a customized rice whole-genome 4×44K DNA microarray at early (6h) and late (72 h) time periods. Low-level gamma radiation differentially regulated rice leaf gene expression (induced 4481 and suppressed 3740 at 6 h and induced 2291 and suppressed 1474 genes at 72 h) by at least 2-fold. Using the highly upregulated and downregulated gene list, MapMan bioinformatics tool generated diagrams of early and late pathways operating in cells responding to gamma ray exposure. An inventory of a large number of gamma radiation-responsive genes provides new information on novel regulatory processes in rice.

Measurements of 137Cs body burden were carried out in 1991-1996 for children residing in the western part of Bryansk Oblast (Russia) where area contamination with 137Cs following the Chernobyl accident varied from 0.03-3.7 MBq m(-2). The mean and median values of 137Cs specific activity (SA) in the bodies of children 5-15 y old for the whole period of surveillance averaged for 26,029 measurements was 85 Bq kg(-1) and 49 Bq kg(-1), respectively. Mean values in different places of residence varied from 30-342 Bq kg(-1) for the settlements where the number of examinees was not less than 50. There is a moderately strong relationship between mean SA in the settlement and the level of area contamination with 137Cs. A strong seasonal effect on 137Cs body burden was found. The ratio of average SA values is 1:1.75 for spring to autumn 1992-1995 in the settlement where the largest number of children was examined. This effect might be attributed to a seasonal change in diet. Based on questionnaire information on individual consumption of locally produced foods, the descending rank of contribution of food items to 137Cs intake by children was found to be: meat-mushrooms-milk-vegetables. Assuming that the dose distribution would follow the distribution of SA values, internal doses to the whole body from ingested 137Cs were assessed. The mean value of annual internal dose averaged for the whole set of measurements is 0.21 mSv, and the median of the individual dose distribution is 0.12 mSv y(-1) For 2% of the total sample the annual dose exceeded 1 mSv, with the highest individual dose being 9 mSv in 1994 for a 7-y-old girl.