Search

Translocations arise when an end of one chromosome break is mistakenly joined to an end from a different chromosome break. Since translocations can lead to developmental disease and cancer, it is important to understand the mechanisms leading to these chromosome rearrangements. We review how characteristics of the sources and the cellular responses to chromosome breaks contribute to the accumulation of multiple chromosome breaks at the same moment in time. We also discuss the important role for chromosome break location; how translocation potential is impacted by the location of chromosome breaks both within chromatin and within the nucleus, as well as the effect of altered mobility of chromosome breaks. A common theme in work addressing both temporal and spatial contributions to translocation is that there is no shortage of examples of factors that promote translocation in one context, but have no impact or the opposite impact in another. Accordingly, a clear message for future work on translocation mechanism is that unlike normal DNA metabolic pathways, it isn't easily modeled as a simple, linear pathway that is uniformly followed regardless of differing cellular contexts.

Food dyes are important component of food in this fast life. Metanil yellow and carmoisine are two azo dyes which are being used at an alarming rate for increasing visual appearance and consumer validity of food. There is a lot of controversy regarding the genotoxicity of these two dyes. In the present study genotoxicity of two food dyes metanil yellow and carmoisine was evaluated using Allium cepa as indicator. The effect of these two azo dyes was determined at concentration of 0.25 %, 0.50 %, 0.75 % and 1.0 % for 24 h and 48 h of exposure period using root meristematic cells of Allium cepa. Some genotoxicity parameters like mitotic indices and chromosomal aberrations were studied. It was found that both metanil yellow and carmoisine caused a significant reduction in mitotic index and also produce different kinds of chromosomal aberrations mostly at higher concentration and longer exposure period. The different kinds of aberrations that were observed in meristematic cells after treatment with both metanil yellow and carmoisine are disorientation at metaphase, metaphase stickiness, anaphase stickiness, anaphase bridge, c-mitosis and chromosome breaks. The genotoxicity of carmoisine was found very high as compared to metanil yellow at all concentrations and exposure periods. Thus it was concluded from the present study that carmoisine and metanil yellow have genotoxic activities and should be taken in very control and limited doses.

The highly successful career of Stephen T. Warren was very well described in the PNAS Profile Series in 2015 (1). We write this remembrance of Steve’s life on behalf of his many friends and scientific colleagues. His death on June 6, 2021 came far too soon and he is sorely missed. Stephen T. Warren. Image credit: Karen Warren (photographer). Steve’s attraction to the field of genetics and his early scientific development came through his work with James Higgins at Michigan State University. It was a time when human genetics was transitioning from basic science to medical utility, with the application of laboratory testing to individual patients serving as the primary stimulus. Tay Sachs carrier screening was developed in Detroit out of the Henry Ford Hospital with Steve’s involvement even as an undergraduate. He recognized the importance of genetic testing to families through his early experience and elected to direct his career to original discovery, where he was very successful. Steve’s interest in syndromes with chromosomal breaks directed his initiative with two very different discovery outcomes. The first disorder he studied was a rare multiple chromosomal breakage disorder, Bloom syndrome. This research, as a graduate student with James Trosko at Michigan State University, seasoned him in somatic genetic methods. Bloom syndrome was eventually found to be caused by mutations in a single gene, a RecQ helicase, causing additional mutations at many sites, often involving chromosome breaks. This rare recessive disease was found to be caused by homozygous loss-of-function of this gene critical to DNA repair. During his postdoctoral training, Steve’s focus turned to a second chromosomal breakage syndrome, at the time termed marker X (fragile X) syndrome. The chromosome break could be elicited in lymphocytes … [↵][1]1To whom correspondence may be addressed. Email: nelson{at}bcm.edu. [1]: #xref-corresp-1-1

EFECTOS DEL SORBATO DE POTASIO A DIFERENTES CONCENTRACIONES y TIEmPO DE ExPOSICIóN SOBRE EL CICLO CELULAR y EL mATERIAL GENÉTICO EN mERISTEmOS RADICULARES DE AllIuM CEPA l. (CEBOLLA) EFFECT OF POTASSIUm SORBATE AT DIFFERENT CONCENTRATIONS AND ExPOSURE TImE ON THE CELL CyCLE AND THE GENETIC mATERIAL IN ROOT mERISTEmS OF AllIuM CEPA l “ONION” Joselyne Quispe, José Saldaña, Tony Verde y Shirley Valderrama Universidad Nacional de Trujillo, Trujillo,Perú DOI: https://doi.org/10.33017/RevECIPeru2010.0011/ RESUMEN Con el propósito de determinar el efecto del Sorbato de Potasio sobre el ciclo celular en meristemos radiculares de Allium cepa L. “cebolla” se establecieron tres grupos experimentales que se expusieron a las soluciones de Sorbato de Potasio en concentraciones de 0.5, 1 y 2 g/L; por 6, 7 y 8 horas cada una y un grupo control. Luego se realizó la respectiva coloración en Orceína acética al 2% de acuerdo a la técnica de Tjio y Levan, observándose con el microscopio compuesto un total de 1500 células meristemáticas en cada uno de los tratamientos. Los resultados aplicando tratamiento después de 8 horas de exposición a la concentración de 2 g/L mostraron una disminución del índice mitótico de 11.26 %, mientras que se incrementó el índice profásico en 95.57 %. Se produjeron también alteraciones como rupturas cromosómicas, puentes anafásicos y células binucleadas. Las pruebas y análisis de varianza, mostraron diferencias significativas entre los diferentes tratamientos, confirmado mediante la prueba de comparación múltiple de promedios de Duncan. Se evidencia un probable efecto genotóxico en el material genético por el Sorbato de Potasio y una alteración en el ciclo celular de los meristemos de A. cepa L.; así mismo, se comprueba la función de biosensor de A. cepa L. en el estudio de sustancias que puedan afectar el ciclo celular. Palabras clave: Allium cepa, Sorbato de Potasio, Índice Mitótico, Alteración del material genético, Puentes anafásicos, Rupturas cromosómicas, Células binucleadas. ABSTRACT In order to determine the effect of Potassium Sorbate on the cell cycle in root meristems of Allium cepa L. “onion” set three experimental groups were exposed to solutions of Potassium Sorbate at concentrations of 0.5, 1 and 2g /l, for 6, 7 and 8 hours each and a control group. Later the respective color in 2% Acetic orcein according to the technique of Tjio and Levan, observed with the compound microscope a total of 1500 meristematic cells in each of the treatments. The appropriate treatment results after 8 hours of exposure to the concentration of 2 g / L showed a decrease in mitotic index of 11.26%, while it increased the rate at 95.57% prophasic index. There were also alterations as chromosome breaks, anaphasic bridges and binucleated cells. The tests and analysis of variance showed significant differences between the different treatments, as confirmed by multiple comparison test of Duncan averages. It shows a probable genotoxic effect in the genetic material by Potassium Sorbate and an alteration in the cell cycle of meristems of A. cepa L., likewise, is found biosensor function of A. cepa L. in the study of substances that may affect the cell cycle. Keywords: Allium cepa, Potassium Sorbate, Mitotic index, Abnormal genetic material, Chromosomal breaks, Anafasic bridges, Binucleated cells.

The present study evaluates the cytogenetic effects of both silver and gold nanoparticles on the root cells of Allium cepa. In this study, the root cells of Allium cepa were treated with both gold and silver nanoparticles of different concentrations (1 mg/L, 5 mg/L and 10 mg/L) along with control for 72 h. Experimental results revealed that after 72 h of exposure, a significant decrease in mitotic index (MI) from 68% (control) to 52.4% (1 mg/L), 47.3% (5 mg/L) and 41.4% (10 mg/L) for gold nanoparticles and 57.1% (1 mg/L), 53% (5 mg/l), 55.8% (10 mg/L) for silver nanoparticles. Through minute observation of the photograph, it was recorded that some specific chromosomal abnormalities such as stickiness of chromosome, chromosome breaks, nuclear notch, and clumped chromosome at different exposure conditions. Therefore, present results clearly suggest that Allium cepa root tip assay could be a viable path through which negative impact of both gold and silver nanoparticles can be demonstrated over a wide range of concentrations. Keywords: Allium cepa, Gold nanoparticles, Silver nanoparticles, Mitotic index, Chromosomal aberrations

Yeast Cdc13 protein (related to human CTC1) maintains telomere stability by preventing 5′-3′ end resection. While Cdc13 and Yku70/Yku80 proteins appear to prevent excessive resection, their combined contribution to maintenance of telomere ends across the genome and their relative roles at specific ends of different chromosomes have not been addressable because Cdc13 and Yku70/Yku80 double mutants are sickly. Using our PFGE-shift approach where large resected molecules have slower pulse field gel electrophoresis mobilities, along with methods for maintaining viable double mutants, we address end-resection on most chromosomes as well as telomere end differences. In this global approach to looking at ends of most chromosomes, we identify chromosomes with 1-end resections and end-preferences. We also identify chromosomes with resection at both ends, previously not possible. 10–20% of chromosomes exhibit PFGE-shift when cdc13-1 cells are switched to restrictive temperature (37 °C). In yku70Δ cdc13-1 mutants, there is a telomere resection “storm” with approximately half the chromosomes experiencing at least 1-end resection, ~10 kb/telomere, due to exonuclease1 and many exhibiting 2-end resection. Unlike for random internal chromosome breaks, resection of telomere ends is not coordinated. Telomere restitution at permissive temperature is rapid (< 1 h) in yku70Δ cdc13-1 cells. Surprisingly, survival can be high although strain background dependent. Given large amount of resected telomeres, we examined associated proteins. Up to 90% of cells have ≥1 Rfa1 (RPA) focus and 60% have multiple foci when ~30–40 telomeres/cell are resected. The ends are dispersed in the nucleus suggesting wide distribution of resected telomeres across nuclear space. The previously reported Rad52 nuclear centers of repair for random DSBs also appear in cells with many resected telomere ends, suggesting a Rad52 commonality to the organization of single strand ends and/or limitation on interactions of single-strand ends with Rad52.

Malaria parasites possess the remarkable ability to maintain chronic infections that fail to elicit a protective immune response, characteristics that have stymied vaccine development and cause people living in endemic regions to remain at risk of malaria despite previous exposure to the disease. These traits stem from the tremendous antigenic diversity displayed by parasites circulating in the field. For Plasmodium falciparum, the most virulent of the human malaria parasites, this diversity is exemplified by the variant gene family called var, which encodes the major surface antigen displayed on infected red blood cells (RBCs). This gene family exhibits virtually limitless diversity when var gene repertoires from different parasite isolates are compared. Previous studies indicated that this remarkable genome plasticity results from extensive ectopic recombination between var genes during mitotic replication; however, the molecular mechanisms that direct this process to antigen-encoding loci while the rest of the genome remains relatively stable were not determined. Using targeted DNA double-strand breaks (DSBs) and long-read whole-genome sequencing, we show that a single break within an antigen-encoding region of the genome can result in a cascade of recombination events leading to the generation of multiple chimeric var genes, a process that can greatly accelerate the generation of diversity within this family. We also found that recombinations did not occur randomly, but rather high-probability, specific recombination products were observed repeatedly. These results provide a molecular basis for previously described structured rearrangements that drive diversification of this highly polymorphic gene family., Malaria parasites have a remarkable capacity to continuously generate genetically diverse surface antigens, helping them to evade the host immune response. This study reveals the unusual recombination mechanism which accelerates the diversification of this gene family in Plasmodium falciparum, the most severe of the human malarial parasites.

The fields of telomere biology and DNA repair have enjoyed a great deal of cross-fertilization and convergence in recent years. Telomeres function at chromosome ends to prevent them from being falsely recognized as chromosome breaks by the DNA damage response and repair machineries. Conversely, both canonical and non-conical functions of numerous DNA repair proteins have been found to be critical for preserving telomere structure and function. In 2009 Elizabeth Blackburn, Carol Greider, and Jack Szostak were awarded the Nobel prize in Physiology or Medicine for the discovery of telomeres and telomerase. Four years later pioneers in the field of DNA repair, Aziz Sancar, Tomas Lindahl and Paul Modrich, were recognized for their seminal contributions by being awarded the Nobel Prize in Chemistry. This review is part of a special issue meant to celebrate this amazing achievement, and will focus in particular on the convergence of nucleotide excision repair and telomere biology, and will discuss the profound implications for human health.

Complex chromosome rearrangements (CCRs) are defined as structural abnormalities involving more than two chromosome breaks, coupled with exchanges of chromosomal segments. Information on CCRs in plants is limited. In the present study, a plant (26-4) harboring translocation chromosomes 1RS.1BL and 4RS.4DL was selected from a double monosomic (1R and 4R) addition line, which was derived from the hybrid between wheat cultivar MY11 and a Chinese local rye variety. The genome of the plant with double alien translocation chromosomes in the monosomic form showed more instability than that harboring a single translocation. The CCRs involving chromosomes 1RS.1BL and 3B, which were generated de novo in this plant, showed double monosomic translocation chromosomes. A new CCR line with balanced reciprocal translocations 1RS.3BL and 3BS.1BL was developed, which presented normal morphological traits of wheat and underwent rapid growth in the field. A new 1RS.1BL translocation line was also selected from the progeny of plant 26-4. The CCRs and simple 1RS.1BL translocation lines showed significant improvement in grain yield, number of spikes per square meter, kernel number per spike, and resistance to stripe rust and powdery mildew. The CCR line exhibited better agronomic traits and adult plant resistance in the field than its sister line, which harbored a simple 1RS.1BL translocation. The CCRs are remarkable genetic resources for crop improvement.

Most Electronic waste (e-waste) ends up in landfills while some is recycled. A major site for e-waste recycling in Palestine is the village of Idhna in the Hebron District and most of this waste originates from Israel. The objective of this study was to evaluate the effects of e-waste on human DNA damage and chromosome breaks. The test sample was 46 non-smoker individuals with direct exposure to e-waste, either employed in the workshops or resident in Idhna. Genotoxicity data were compared with a control sample of sixteen unexposed individuals from Bethlehem and Al-Aizariya (Bethany). DNA damage was evaluated using the Comet assay while chromosome aberrations were tested by using conventional cytogenetic techniques. We noted an average of 4.83 aberration/cell/subject in test samples while in controls the average was 0.75. Chromosome aberration frequency was statistically different between exposed and control samples for total aberrations, for chromatid and chromosome breaks, and for formation of r...

Background Interest in the use of extremely low-frequency (ELF) electromagnetic field (EMF) for the treatment of pain and inflammation is increasing due to the ability of this promising therapy to compete with pharmaceuticals without the adverse effects caused by drugs. However, there continues to be concerns regarding cytotoxic and genotoxic effects that may occur as a result of exposure to EMF. Objective To investigate this concern, we tested the effect of our known therapeutic 5 Hz, 0.4 milliTesla (mT) EMF on a human mesenchymal stromal cell (hMSC) line to determine whether ELF-EMF exposure would cause cytotoxic or genotoxic effects. Methods Treated samples along with controls were exposed to 5 Hz, 0.4 mT ELF-EMF for 20 min/day, 3×/week for 2 weeks and then assayed for cell viability, proliferation rates, and chromosome breaks. Results Cytogenetic analysis of the viability and proliferation rates along with analysis of morphological genome stability showed no cytotoxicity, and no chromosome breaks per karyotype analysis—therefore no genotoxicity. Conclusion Exposure to an ELF-EMF of 5 Hz, 0.4 mT for 20 min/day, 3×/week for 2 weeks does not cause cytotoxic or genotoxic effects in hMSCs.

Trinucleotide repeats are common in the human genome and can undergo changes in repeat length. Expanded CAG repeats have been linked to over 14 human diseases and are considered hotspots for breakage and genomic rearrangement. Here, we describe two Saccharomyces cerevisiae based assays that evaluate the rate of chromosome breakage that occurs within a repeat tract (fragility), and a PCR-based assay to evaluate tract length changes (instability). The first fragility assay utilizes end-loss and subsequent telomere addition as the main mode of repair of a yeast artificial chromosome (YAC). The second fragility assay relies on the fact that a chromosomal break stimulates recombination-mediated repair. In addition to understanding the role of fragility at repetitive DNA sequences, both assays can be modified to evaluate instability of a CAG repeat using a PCR-based assay. All three assays have been essential in understanding the genetic mechanisms that cause chromosome breaks and tract-length changes at unstable repeats.

L'anémie de Fanconi est une maladie récessive associée à une instabilité chromosomique, elle est marquée par une hétérogénéité phénotypique qui inclut une insuffisance médullaire, un syndrome malformatif variable, une prédisposition à développer des leucémies aiguës myéloïdes (LAM) et une hypersensibilité cellulaire aux agents pontant l'ADN. Le diagnostic est basé sur l'augmentation anormale du taux de cassures chromosomiques spontanées mais surtout, et de manière spécifique, sur une augmentation nette de ces cassures chromosomiques en présence d'agents alkylants bifonctionnels, ce qui est le cas pour nos six patients. Le conseil génétique rejoint celui des maladies autosomiques récessives. Nous rapportons nos premières observations au CHU Hassan II Fès, confirmées par la mise en évidence d'une grande instabilité chromosomique après culture sous Mitomycine C en comparaison avec un témoin normal. Le but de cet article est la mise à jour de nos connaissances sur la génétique de l'Anémie de Fanconi et à travers ces six observations nous illustrons le rôle de la cytogénétique dans le diagnostic et le conseil génétique pour une meilleure prise en charge aussi bien des enfants atteints que de leurs familles.

Several studies have been developed to understand the physiology of seed deterioration, however, the initial steps of the deterioration process are not completely clear. Seed vigor and viability losses are also associated with genetic material damage. This study was carried out to detect cytogenetic and physiological alterations occurring during the deterioration process of wheat seeds, due to artificial aging stress. Two cultivars, Ônix and Fundacep Campo Real, were submitted to six different treatments: control (T1), 24 (T2), 48 (T3), 72 (T4), 96 (T5) and 120 (T6) hours under artificial aging conditions: 42 °C and 100% relative humidity. Germination and vigor tests (First Count of Germination, Electrical Conductivity, Seedling Emergence in the Field and Emergence Speed Index) were performed. Cytogenetic evaluations were performed through smear technique for root tips, stained with 2% acetic orcein. Total number of cells under division and mitotic index (MI) were determined. According to results, vigor and mitotic index were affected due to deterioration process induced by artificial aging stress. A reduced number of dividing cells were observed in seeds submitted to prolonged period of aging. Chromosomal abnormalities in mitotic cells of aged seeds were detected with the occurrence of micronuclei, chromosome breaks and bridges. Inúmeros estudos têm sido desenvolvidos visando entender a fisiologia da deterioração de sementes, entretanto, as etapas iniciais desse processo ainda não estão completamente elucidadas. A perda do vigor e da viabilidade das sementes também têm sido associada aos danos no material genético. Este estudo tem por objetivo avaliar alterações citogenéticas e fisiológicas no processo de deterioração de sementes de trigo , submetidas ao envelhecimento artificial. Duas cultivares foram utilizadas, Ônix e Fundacep Campo Real, submetidas a seis tratamentos: controle (T1), 24 (T2), 48 (T3), 72 (T4), 96 (T5) e 120 (T6) horas, sob envelhecimento artificial a 42 °C e aproximadamente 100% de UR. Foram efetuados os testes de germinação e vigor (Primeira Contagem, Condutividade Elétrica, Emergência de Plântulas e Indice de Velocidade de Emergência). Avaliações citogenéticas foram realizadas em tecidos de pontas de radículas. Determinou-se o número de células em divisão e o índice mitótico. O número de células em divisão e o índice mitótico foram afetados em função da deterioração induzida, pelo envelhecimento artificial. Menor número de células em divisão foi observado em sementes submetidas ao envelhecimento por períodos prolongados. Foram detectadas anormalidades cromossômicas em células mitóticas de sementes envelhecidas artificialmente, como ocorrência de micronúcleos, quebras e pontes cromossômicas.

Gasoline constitutes a mixture of chemicals that contain well-known genotoxicants. Thus, chronic occupational exposure to gasoline may be considered to possess genotoxic risk. In this study, the frequencies of total chromosomal aberrations (TCA), aberrant cells (Ab.c.), sister chromatid exchanges (SCE), high-frequency cells (HFC), and high-frequency cell individual (HFI) were investigated in peripheral blood lymphocytes from 17 gasoline-exposed workers (10 smokers and 7 non-smokers) and 22 unexposed reference subjects (12 smokers and 10 non-smokers). The exposed subjects were gasoline truck loaders at a gasoline company from Tunis City, north of Tunisia. The results indicate multiple CA, such as dicentrics (DIC), chromatid breaks (SB), and chromosome breaks (DB). A significant difference was observed in TCA and Ab.c. frequencies between exposed and unexposed groups (p < 0.01). A significant difference was found in frequencies of SCE (p < 0.01) and HFI (p < 0.05) between exposed and unexposed grou...

In this study, we report an easy and quick method on simulating chromosome breaks in cells exposed to heavy charged particles. The theoretical value of chromosome break was calculated, and validated comparison with experimental value by using premature chromosome condensation technique. A good consistency was found between theoretical and experimental value. This suggested that higher relative biological effectiveness of heavy ions was closely correlated with its physical characteristics. Also, a safe approach on predicting chromosome breaks in cells exposed to heavy ions at off-line environment can be considered. Furthermore, three key factors influencing the theoretical simulation was investigated and discussed.

The study included 75 subjects exposed to low doses of external ionizing radiation and 25 subjects from the control group, all male. The first group (A) consisted of 25 subjects employed in the production of technetium, with an average job experience of 15 years. The second group (B) consisted of 25 subjects exposed to ionizing radiation from enclosed sources, working in jobs involving the control of X-ray devices and americium smoke detectors, their average work experience being 18.5 years. The third group (C) consisted of 25 subjects involved in the decontamination of the terrain at Borovac from radioactive rounds with depleted uranium left over after the NATO bombing of Serbia in 1999, their average job experience being 18.5 years. The control group (K) consisted of 25 subjects who have not been in contact with sources of ionizing radiation and who hold administrative positions. Frequencies of chromosome aberrations were determined in lymphocytes of peripheral blood and compared to the control group. The average annual absorbed dose determined by thermoluminescent dosimeters for all three groups did not exceed 2 mSv. In the present study, the largest number of observed changes are acentric fragments and chromosome breaks. The highest occupational risk appears to involve subjects working in manufacturing of the radio-isotope technetium.

Altres ajuts: Fundació La Marató, Grant number TV32005-050110 After irradiation, ATM defective cells accumulate unrepaired double strand breaks (DSBs) for several cell divisions. At the chromosome level, unresolved DSBs appear as chromosome breaks that can be efficiently scored by using telomeric and mFISH probes. H2AX is immediately activated by ATM in response to DNA damage and its phosphorylated form, γH2AX, flanks the DSB through several megabases. The γH2AX-labeling status of broken chromosome ends was analyzed in AT cells to check whether the DNA damage response was accurately taking place in these persistent DSBs. The results show that one quarter of the scored breaks are devoid of γH2AX foci in metaphase spreads from ATM-deficient cells, and this fraction is significantly higher than in normal cells (χ2 < 0.05). Accumulation of sensor and repair proteins at damaged sites is a key event in the cellular response to DSBs, so MRE11 labeling at broken ends was also analyzed. While all γH2AX foci scored at visible broken ends colocalize with MRE11 foci, all γH2AX-unlabeled breaks are also devoid of MRE11-labeling. The present results suggest that a significant subset of the AT long-lived DSBs may persist as " invisible" DSBs due to deficient detection by the DNA damage repair machinery. Eventually the properly signaled DSBs will be repaired while invisible breaks may indefinitely accumulate; most probably contributing to the AT cells' well known genomic instability.

Spontaneous chromosome breaks were analysed in different populations of the plant species Najas marina. The mean value of aberrant cells was 0.7% in the mitotic divisions, 5.1% in the first, and 2.6% in the second meiotic division. In the first pollen mitosis, there were bridges and fragments in 2.1% of the anaphases, and 7.3% of the pollen grains remained unstained after cotton blue treatment. The origins of the spontaneous breaks are believed to be due to viruses, clastogenic products of the normal metabolism, and errors in the repair mechanisms. The vast excess of aberrations in the first meiotic division may be caused by errors in the chiasms formation and possibly also by the persistent chromosomal interconnections.

The prevalence of squamous cell carcinoma of the skin in albinos reaches approximately 90 % in patients over 20 years of age in the vicinity of Enugu, Nigeria. Chromosome breaks and sister chromatid exchanges (SCE) were evaluated in tyrosinase-positive oculocutaneous albinos and pigmented controls of Ibo extraction who were life-long residents of Nigeria. No difference in the frequency of chromosomal breaks in 14 albinos compared to 6 pigmented controls, and no differences in the frequency of SCE in 9 albinos compared to 3 controls could be detected. Increased chromosomal abnormalities in lymphocytes do not appear to be associated with albinism or fulminating skin cancer present in albinos in the tropics.

We analyzed the frequency of chromosomal aberrations in peripheral lymphocytes from underground miners from the Casapalca (n = 8, mean age = 45 y, range = 36 y to 55 y) and Bellavista (n = 8, mean age = 28 y, range 23 y to 34 y) high-altitude mining camps in the Peruvian Andes. This population was occupationally exposed to heavy metals such as lead and zinc as well as diesel emission particles, organic solvents and mine dust. The control groups consisted of individuals from a high altitude farming community in the Peruvian village of Tinco (n = 8, mean age = 37 y, range = 25 y to 52 y) and the sea level city of Lima (n = 14, mean age = 26 y, range = 20 y to 35 y). All individuals were male native Peruvians. A significantly higher incidence (1.88%, p < 0.05) of chromosomal aberrations (chromatid deletions and breaks, chromosome breaks and acentric fragments) were detected in lymphocytes from miners at the Casapalca camp as compared to miners from the Bellavista camp (0.5%, chromatid deletions and acentric fragments only) and the Lima sea level (0.07%, chromatid deletions only) and Tinco high altitude (no aberrations) controls. These results suggest that male native Peruvians occupationally exposed to underground mining activity have an increased frequency of chromosomal aberrations, which could be related to both age and exposure time. The increased chromosomal damage observed in the mining populations studied may be attributable to the complex mixture of genotoxic agents to which the miners may have been exposed.

Background Electronics waste is solid waste that accumulates because of the short lifespan of many types of electronic equipment. Most electronics waste ends up in landfills, whereas some is recycled. In the occupied Palestinian territory, the village of Idhna in the Hebron District is a large site for recycling electronics waste (much of this waste originates from Israel). The aim of this study was to evaluate the effects of electronics waste on human DNA damage and chromosome breaks. Methods In this cross-sectional study, we recruited non-smoker individuals with direct exposure to electronics waste either because they were employed in the workshops or resident in Idhna. Control participants were selected to match the test sample in age and sex distribution, were recruited from Bethlehem and Al-Aizariya (Bethany). Blood samples in sodium heparin were evaluated for DNA damage using the COMET assay, whereas chromosome aberrations were tested by using conventional cytogenetic techniques. Findings 46 participants were included in the test sample, and 16 participants were included in the control sample. Participants in the test sample had an average of 3·77 chromosomes with aberrations (SD 2·5), whereas participants in the control group had an average of 0·75 chromosomes with aberrations (SD 0·61). The frequency of chromatid and chromosome breaks, formation of rings, and total chromosome aberrations was statistically different between exposed and control samples, but no difference was observed between exposed and controls for the incidence of dicenterics and tetraploidy. Results of the Comet assay showed a significant difference in DNA damage between exposed and control participants (p Interpretation Exposure to recycled electronics waste in Idhna has potentially adverse health consequences. This is the second study of this kind in the occupied Palestinian territories. Hammad and Qumsiyeh (2013) have previously shown substantial genotoxic effects of Israeli industrial settlement discharge on human populations in Salfit (northern West Bank). Considering increased incidence of cancer and congenital birth defects in the southern part of the West Bank, these findings were important in promoting the case for mitigation measures, which are now under way. Funding None.

A comprehensive description of chromosome aberrations is introduced that is suitable for all cytogenetic protocols (e.g. solid staining, banding, FISH, mFISH, SKY, bar coding) and for mathematical analyses. "Aberration multigraphs" systematically characterize and interrelate three basic aberration elements: (1) the initial configuration of chromosome breaks; (2) the exchange process, whose cycle structure helps to describe aberration complexity; and (3) the final configuration of rearranged chromosomes, which determines the observed pattern but may contain cryptic misrejoinings in addition. New aberration classification methods and a far-reaching generalization of mPAINT descriptors, applicable to any protocol, emerge. The difficult problem of trying to infer actual exchange processes from cytogenetically observed final patterns is analyzed using computer algorithms, adaptations of known theorems on cubic graphs, and some new graph-theoretical constructs. Results include the following: (1) For a painting protocol, unambiguously inferring the occurrence of a high-order cycle requires a corresponding number of different colors; (2) cycle structure can be computed by a simple trick directly from mPAINT descriptors if the initial configuration has no more than one break per homologue pair; and (3) higher-order cycles are more frequent than the obligate cycle structure specifies. Aberration multigraphs are a powerful new way to describe, classify and quantitatively analyze radiation-induced chromosome aberrations. They pinpoint (but do not eliminate) the problem that, with present cytogenetic techniques, one observed pattern corresponds to many possible initial configurations and exchange processes.

The chromosome-type exchange aberrations induced by ionizing radiation during the G(0)/G(1) phase of the cell cycle are believed to be the result of illegitimate rejoining of chromosome breaks. From numerous studies using chromosome painting, it has emerged that even after a moderate dose of radiation, a substantial fraction of these exchanges is complex. Most of them are derived from the free interaction between the ends of three or more breaks. Other studies have demonstrated that chromosomes occupy distinct territories in the interphase nucleus. Since breaks that are in close proximity have an enhanced interaction probability, it seems likely that after ionizing radiation many of the interacting breaks will be present within one chromosome or chromosome arm. Unfortunately, the majority of these intrachanges remain undetected, even when sophisticated molecular cytogenetic detection methods (i.e. mFISH) are applied to paint all chromosome pairs in distinct colors. In the present paper, we evaluate the limitations of full-color painting for the detection of complex exchanges and the correct interpretations of break interactions. (C) 2002 Elsevier Science B.V. All rights reserved.

In this article it is overviewed some literature connected with the discovery and scientific description of the trematode Opisthorchis felineus more than a hundred years ago. Special attention has been paid to the relationship between opisthorchiasis and cholangiocarcinoma development in humans. Some data from research literature and the author's own publications illustrated various cytogenetic aberrations in peripheral blood lymphocytes of opisthorchiasis patients have been cited in this article. Such chromosome aberrations were detected more frequently among the new arrivals than the local inhabitants. Many of the chromosome breaks are located near to some cellular oncogenes of the human chromosomes. Superactive biotransformation of some xenobiotics into mutagenic and carcinogenic agents was found in the liver of opisthorchiasis patients. The facts about the distribution of Opisthorchis felineus in Russia are also cited.

We describe several analytical techniques for use in developing genetic models of oncogenesis including: methods for the selection of important genetic events, construction of graph models (including distance-based trees, branching trees, contingency trees and directed acyclic graph models) from these events and methods for interpretation of the resulting models. The models can be used to make predictions about: which genetic events tend to occur early, which events tend to occur together and the likely order of events. Unlike simple path models of oncogenesis, our models allow dependencies to exist between specific genetic changes and allow for multiple, divergent paths in tumor progression. A variety of genetic events can be used with the graph models including chromosome breaks, losses or gains of large DNA regions, small mutations and changes in methylation. As an application of the techniques, we use a recently published cytogenetic analysis of 206 melanoma cases [Nelson et al. (2000), Cancer Genet. Cytogenet.122, 101-109] to derive graph models for chromosome breaks in melanoma. Among our predictions are: (1) breaks in 6q1 and 1q1 are early events, with 6q1 preferentially occurring first and increasing the probability of a break in 1q1 and (2) breaks in the two sets [1p1, 1p2, 9q1] and [1q1, 7p2, 9p2] tend to occur together. This study illustrates that the application of graph models to genetic data from tumor sets provide new information on the interrelationships among genetic changes during tumor progression.

Cornforth, M. N. Analyzing Radiation-Induced Complex Chromosome Rearrangements by Combinatorial Painting. Radiat. Res. 155, 643–659 (2001). Prior to the advent of whole-chromosome painting, it was universally assumed that virtually all radiation-induced exchanges represented a simple rejoining between pairs of chromosome breaks. It is now known that a substantial proportion of such exchanges are actually complex, meaning that they involve the interaction of three (or more) breaks distributed among two (or more) chromosomes. The purpose of this review is to discuss some of the implications of aberration analysis using whole-chromosome painting, with emphasis given to newer combinatorial painting schemes that allow for the unambiguous identification of all homologous chromosome pairs. Such analysis requires reconsideration of how resulting information is to be handled for the purposes of tabulating and communicating raw data, quantifying aberration yields, and presenting experimental results in a c...