WorldWideScience

Sample records for chromosomal translocation disrupting

  1. Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome

    DEFF Research Database (Denmark)

    Borg, Isabella; Freude, Kristine; Kübart, Sabine;

    2005-01-01

    We have identified a girl with characteristic features of Rett syndrome (RTT) who carries a de novo balanced translocation involving chromosomes 1 and 7. Both breakpoints were mapped by fluorescence in situ hybridization with selected genomic clones from the regions of interest. Southern blot...

  2. Translocations used to generate chromosome segment duplications in Neurospora can disrupt genes and create novel open reading frames

    Indian Academy of Sciences (India)

    Parmit K Singh; Srividhya V Iyer; T Naga Sowjanya; B Kranthi Raj; Durgadas P Kasbekar

    2010-12-01

    In Neurospora crassa, crosses between normal sequence strains and strains bearing some translocations can yield progeny bearing a duplication (Dp) of the translocated chromosome segment. Here, 30 breakpoint junction sequences of 12 Dp-generating translocations were determined. The breakpoints disrupted 13 genes (including predicted genes), and created 10 novel open reading frames. Insertion of sequences from LG III into LG I as translocation T(UK818) disrupts the eat-3 gene, which is the ortholog of the Podospora anserine gene ami1. Since ami1-homozygous Podospora crosses were reported to increase the frequency of repeat-induced point mutation (RIP), we performed crosses homozygous for a deficiency in eat-3 to test for a corresponding increase in RIP frequency. However, our results suggested that, unlike in Podospora, the eat-3 gene might be essential for ascus development in Neurospora. Duplication–heterozygous crosses are generally barren in Neurospora; however, by using molecular probes developed in this study, we could identify Dp segregants from two different translocation–heterozygous crosses, and using these we found that the barren phenotype of at least some duplication–heterozygous crosses was incompletely penetrant.

  3. Effects of a Balanced Translocation between Chromosomes 1 and 11 Disrupting the DISC1 Locus on White Matter Integrity.

    Directory of Open Access Journals (Sweden)

    Heather C Whalley

    Full Text Available Individuals carrying rare, but biologically informative genetic variants provide a unique opportunity to model major mental illness and inform understanding of disease mechanisms. The rarity of such variations means that their study involves small group numbers, however they are amongst the strongest known genetic risk factors for major mental illness and are likely to have large neural effects. DISC1 (Disrupted in Schizophrenia 1 is a gene containing one such risk variant, identified in a single Scottish family through its disruption by a balanced translocation of chromosomes 1 and 11; t(1;11 (q42.1;q14.3.Within the original pedigree, we examined the effects of the t(1;11 translocation on white matter integrity, measured by fractional anisotropy (FA. This included family members with (n = 7 and without (n = 13 the translocation, along with a clinical control sample of patients with psychosis (n = 34, and a group of healthy controls (n = 33.We report decreased white matter integrity in five clusters in the genu of the corpus callosum, the right inferior fronto-occipital fasciculus, acoustic radiation and fornix. Analysis of the mixed psychosis group also demonstrated decreased white matter integrity in the above regions. FA values within the corpus callosum correlated significantly with positive psychotic symptom severity.We demonstrate that the t(1;11 translocation is associated with reduced white matter integrity in frontal commissural and association fibre tracts. These findings overlap with those shown in affected patients with psychosis and in DISC1 animal models and highlight the value of rare but biologically informative mutations in modeling psychosis.

  4. Causes of oncogenic chromosomal translocation

    OpenAIRE

    Aplan, Peter D.

    2005-01-01

    Non-random chromosomal translocations are frequently associated with a variety of cancers, especially hematologic malignancies and childhood sarcomas In addition to their diagnostic utility, chromosomal translocations are increasingly being used in the clinic to guide therapeutic decisions. However, the mechanisms which cause these translocations remain poorly understood. Illegit...

  5. Coding sequences of the tal-1 gene are disrupted by chromosome translocation in human T cell leukemia

    OpenAIRE

    1990-01-01

    The tal-1 proto-oncogene encodes a helix-loop-helix DNA-binding protein that has been implicated in the formation of T cell acute lymphoblastic leukemia (T-ALL). Patients with T-ALL harbor structural rearrangements of tal-1 that result from either local DNA deletion or t(1;14)(p34;q11) chromosome translocation. By analyzing t(1;14)(p34;q11) chromosomes from a series of patients, we have now identified a discrete region of tal-1 wherein most of the translocation breakpoints occur. Moreover, ma...

  6. Electochemical detection of chromosome translocation

    DEFF Research Database (Denmark)

    Kwasny, Dorota; Dimaki, Maria; Silahtaroglu, Asli;

    2014-01-01

    Cytogenetics is a study of the cell structure with a main focus on chromosomes content and their structure. Chromosome abnormalities, such as translocations may cause various genetic disorders and heametological malignancies. Chromosome translocations are structural rearrangements of two...... hybridization approach developed for label-free detection of the chromosome translocations. For specific translocation detection it is necessary to determine that the two DNA sequences forming a derivative chromosome are connected, which is achieved by two subsequent hybridization steps. The electrochemical...... impedance spectroscopy was selected as the sensing method on a microfabricated chip with array of 12 electrode sets. Two independent chips (Chip1 and Chip2) were used for targeting the chromosomal fragments involved in the translocation. Each chip was differentially functionalized with DNA probes matching...

  7. Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11

    DEFF Research Database (Denmark)

    Tzschach, Andreas; Bisgaard, Anne-Marie; Kirchhoff, Maria;

    2010-01-01

    and hypotonia. We also report on the results of breakpoint analysis by array painting in a mentally retarded patient with a balanced chromosome translocation 46,XY,t(10;13)(q22;p13)dn. The breakpoint in 10q22 was found to disrupt C10orf11, a brain-expressed gene in the common deleted interval of......Interstitial deletions of chromosome band 10q22 are rare. We report on the characterization of three overlapping de novo 10q22 deletions by high-resolution array comparative genomic hybridization in three unrelated patients. Patient 1 had a 7.9 Mb deletion in 10q21.3-q22.2 and suffered from severe...

  8. Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11

    DEFF Research Database (Denmark)

    Tzschach, Andreas; Bisgaard, Anne-Marie; Kirchhoff, Maria; Graul-Neumann, Luitgard M; Neitzel, Heidemarie; Page, Stephanie; Ahmed, Alischo; Müller, Ines; Erdogan, Fikret; Ropers, Hans-Hilger; Kalscheuer, Vera M; Ullmann, Reinhard

    2010-01-01

    Interstitial deletions of chromosome band 10q22 are rare. We report on the characterization of three overlapping de novo 10q22 deletions by high-resolution array comparative genomic hybridization in three unrelated patients. Patient 1 had a 7.9 Mb deletion in 10q21.3-q22.2 and suffered from severe...... feeding problems, facial dysmorphisms and profound mental retardation. Patients 2 and 3 had nearly identical deletions of 3.2 and 3.6 Mb, the proximal breakpoints of which were located at an identical low-copy repeat. Both patients were mentally retarded; patient 3 also suffered from growth retardation...... and hypotonia. We also report on the results of breakpoint analysis by array painting in a mentally retarded patient with a balanced chromosome translocation 46,XY,t(10;13)(q22;p13)dn. The breakpoint in 10q22 was found to disrupt C10orf11, a brain-expressed gene in the common deleted interval of...

  9. How does DNA break during chromosomal translocations?

    OpenAIRE

    Nambiar, Mridula; Raghavan, Sathees C.

    2011-01-01

    Chromosomal translocations are one of the most common types of genetic rearrangements and are molecular signatures for many types of cancers. They are considered as primary causes for cancers, especially lymphoma and leukemia. Although many translocations have been reported in the last four decades, the mechanism by which chromosomes break during a translocation remains largely unknown. In this review, we summarize recent advances made in understanding the molecular mechanism of chromosomal t...

  10. Chromosomal translocation in a human leukemic stem-cell line disrupts the T-cell antigen receptor δ-chain diversity region and results in a previously unreported fusion transcript

    International Nuclear Information System (INIS)

    The authors have studied a leukemic stem-cell line, DU.528, that is able to differentiate into myeloid and lymphoid cells. The leukemic cells have a translocation between chromosomes 1 and 14, t(1;14)(p33;q11), which they have molecularly cloned and sequenced. Initial screening used joining (J)-segment probes from the T-cell receptor (TCR) α- and δ-chain loci. In apparent concert with the translocation, a deletion has occurred between δ-chain diversity (D)-region genes Dδ1 and Dδ2. The nature of the Dδ1-Dδ2 deletional event implicates a lymphoid recombinase in the mechanism of the translocation. As a consequence of the translocation, an unusual fusion transcript was generated. Probes from chromosome 1 detected a previously unreported transcript in RNA from both the cell line and the patient. A chromosome 14 probe identified the same transcript, thus confirming a fusion transcript derived from both chromosomes 1 and 14. This translocation may identify a gene for which they propose the name SCL (stem-cell leukemia) that is important for hemopoietic development and oncogenesis and that has been disrupted or altered in this stem-cell line

  11. A novel balanced chromosomal translocation found in subjects with schizophrenia and schizotypal personality disorder: Altered L-serine level associated with disruption of PSAT1 gene expression

    OpenAIRE

    Ozeki, Yuji; Pickard, Benjamin S; Kano, Shin-ichi; Malloy, Mary P.; Zeledon, Mariela; SUN, DANIEL Q.; Fujii, Kumiko; Wakui, Keiko; Shirayama, Yukihiko; Fukushima, Yoshimitsu; Kunugi, Hiroshi; Hashimoto, Kenji; Muir, Walter J; Blackwood, Douglas H; Sawa, Akira

    2011-01-01

    L-Serine is required for the synthesis of glycine and D-serine, both of which are NMDA receptor coagonists. Although roles for D-serine and glycine have been suggested in schizophrenia, little is known about the role of the L-serine synthesizing cascade in schizophrenia or related psychiatric conditions. Here we report a patient with schizophrenia carrying a balanced chromosomal translocation with the breakpoints localized to 3q13.12 and 9q21.2. We examined this proband and her son with schiz...

  12. Primary vitreoretinal dysplasia resembling Norrie's disease in a female: association with X autosome chromosomal translocation.

    OpenAIRE

    OHBA, N.; Yamashita, T.

    1986-01-01

    A female infant with the typical clinical and histopathological features of vitreoretinal dysplasia is described. She had an apparently balanced reciprocal chromosomal translocation 46XX,t(X;10) with the X chromosome breakpoint being on the short arm. Since the parents' karyotypes were normal, it is most plausible that a de novo chromosomal translocation disrupted the vitreoretinal dysplasia gene itself. The severe clinical symptoms of this heterozygous female patient were explained by non-ra...

  13. Label Free Chromosome Translocation Detection with Silicon nanowires

    DEFF Research Database (Denmark)

    Kwasny, Dorota; Andersen, Karsten Brandt; Frøhling, Kasper Bayer;

    HROMOSOME translocation, which is a rearrangement of arms between two chromosomes, is a major group of chromosome abnormalities leading to cancer. As a result, two derivative chromosomes with sequences coming from both chromosomes are formed. The current translocation detection method is a Fluore...

  14. A novel selection system for chromosome translocations in Saccharomyces cerevisiae.

    OpenAIRE

    Tennyson, Rachel B; Ebran, Nathalie; Herrera, Anissa E; Lindsley, Janet E.

    2002-01-01

    Chromosomal translocations are common genetic abnormalities found in both leukemias and solid tumors. While much has been learned about the effects of specific translocations on cell proliferation, much less is known about what causes these chromosome rearrangements. This article describes the development and use of a system that genetically selects for rare translocation events using the yeast Saccharomyces cerevisiae. A translocation YAC was created that contains the breakpoint cluster regi...

  15. Centrifugally driven microfluidic disc for detection of chromosomal translocations

    DEFF Research Database (Denmark)

    Brøgger, Anna Line; Kwasny, Dorota; Bosco, Filippo G.;

    2012-01-01

    Chromosome translocations are a common cause of congenital disorders and cancer. Current detection methods require use of expensive and highly specialized techniques to identify the chromosome regions involved in a translocation. There is a need for rapid yet specific detection for diagnosis and...... prognosis of patients. In this work we demonstrate a novel, centrifugally-driven microfluidic system for controlled manipulation of oligonucleotides and subsequent detection of chromosomal translocations. The device is fabricated in the form of a disc with capillary burst microvalves employed to control the...... fluid flow. The microvalves in series are designed to enable fluid movement from the center towards the periphery of the disc to handle DNA sequences representing translocation between chromosome 3 and 9. The translocation detection is performed in two hybridization steps in separate sorting and...

  16. Targeted Chromosomal Translocations and Essential Gene Knockout Using CRISPR/Cas9 Technology in Caenorhabditis elegans.

    Science.gov (United States)

    Chen, Xiangyang; Li, Mu; Feng, Xuezhu; Guang, Shouhong

    2015-12-01

    Many genes play essential roles in development and fertility; their disruption leads to growth arrest or sterility. Genetic balancers have been widely used to study essential genes in many organisms. However, it is technically challenging and laborious to generate and maintain the loss-of-function mutations of essential genes. The CRISPR/Cas9 technology has been successfully applied for gene editing and chromosome engineering. Here, we have developed a method to induce chromosomal translocations and produce genetic balancers using the CRISPR/Cas9 technology and have applied this approach to edit essential genes in Caenorhabditis elegans. The co-injection of dual small guide RNA targeting genes on different chromosomes resulted in reciprocal translocation between nonhomologous chromosomes. These animals with chromosomal translocations were subsequently crossed with animals that contain normal sets of chromosomes. The F1 progeny were subjected to a second round of Cas9-mediated gene editing. Through this method, we successfully produced nematode strains with specified chromosomal translocations and generated a number of loss-of-function alleles of two essential genes (csr-1 and mes-6). Therefore, our method provides an easy and efficient approach to generate and maintain loss-of-function alleles of essential genes with detailed genetic background information. PMID:26482793

  17. Comparative Genomics of Interreplichore Translocations in Bacteria: A Measure of Chromosome Topology?

    Directory of Open Access Journals (Sweden)

    Supriya Khedkar

    2016-06-01

    Full Text Available Genomes evolve not only in base sequence but also in terms of their architecture, defined by gene organization and chromosome topology. Whereas genome sequence data inform us about the changes in base sequences for a large variety of organisms, the study of chromosome topology is restricted to a few model organisms studied using microscopy and chromosome conformation capture techniques. Here, we exploit whole genome sequence data to study the link between gene organization and chromosome topology in bacteria. Using comparative genomics across ∼250 pairs of closely related bacteria we show that: (a many organisms show a high degree of interreplichore translocations throughout the chromosome and not limited to the inversion-prone terminus (ter or the origin of replication (oriC; (b translocation maps may reflect chromosome topologies; and (c symmetric interreplichore translocations do not disrupt the distance of a gene from oriC or affect gene expression states or strand biases in gene densities. In summary, we suggest that translocation maps might be a first line in defining a gross chromosome topology given a pair of closely related genome sequences.

  18. Defining chromosomal translocation risks in cancer

    OpenAIRE

    Marc A Hogenbirk; Heideman, Marinus R.; de Rink, Iris; Velds, Arno; Kerkhoven, Ron M.; Wessels, Lodewyk F. A.; Jacobs, Heinz

    2016-01-01

    Applying innovative integrative analyses of multifactorial genome-wide data, we now demonstrate that an open chromatin configuration, which is generically enriched promoter-proximal but not promoter-specific, is the common denominator and key translocation risk-determinant of active chromatin. The finding that gene size directly correlated with its translocation risk, in both mice and cancer patients, independently emphasized the generic irrelevance of any promoter-specific activity. These da...

  19. X-linked intellectual disability related genes disrupted by balanced X-autosome translocations.

    Science.gov (United States)

    Moysés-Oliveira, Mariana; Guilherme, Roberta Santos; Meloni, Vera Ayres; Di Battista, Adriana; de Mello, Claudia Berlim; Bragagnolo, Silvia; Moretti-Ferreira, Danilo; Kosyakova, Nadezda; Liehr, Thomas; Carvalheira, Gianna Maria; Melaragno, Maria Isabel

    2015-12-01

    Detailed molecular characterization of chromosomal rearrangements involving X-chromosome has been a key strategy in identifying X-linked intellectual disability-causing genes. We fine-mapped the breakpoints in four women with balanced X-autosome translocations and variable phenotypes, in order to investigate the corresponding genetic contribution to intellectual disability. We addressed the impact of the gene interruptions in transcription and discussed the consequences of their functional impairment in neurodevelopment. Three patients presented with cognitive impairment, reinforcing the association between the disrupted genes (TSPAN7-MRX58, KIAA2022-MRX98, and IL1RAPL1-MRX21/34) and intellectual disability. While gene expression analysis showed absence of TSPAN7 and KIAA2022 expression in the patients, the unexpected expression of IL1RAPL1 suggested a fusion transcript ZNF611-IL1RAPL1 under the control of the ZNF611 promoter, gene disrupted at the autosomal breakpoint. The X-chromosomal breakpoint definition in the fourth patient, a woman with normal intellectual abilities, revealed disruption of the ZDHHC15 gene (MRX91). The expression assays did not detect ZDHHC15 gene expression in the patient, thus questioning its involvement in intellectual disability. Revealing the disruption of an X-linked intellectual disability-related gene in patients with balanced X-autosome translocation is a useful tool for a better characterization of critical genes in neurodevelopment. © 2015 Wiley Periodicals, Inc. PMID:26290131

  20. Mode of ATM-dependent suppression of chromosome translocation

    Energy Technology Data Exchange (ETDEWEB)

    Yamauchi, Motohiro, E-mail: motoyama@nagasaki-u.ac.jp [Graduate School of Biomedical Sciences, Nagasaki University, 1-12-4 Sakamoto, Nagasaki 852-8523 (Japan); Suzuki, Keiji; Oka, Yasuyoshi; Suzuki, Masatoshi; Kondo, Hisayoshi; Yamashita, Shunichi [Graduate School of Biomedical Sciences, Nagasaki University, 1-12-4 Sakamoto, Nagasaki 852-8523 (Japan)

    2011-12-09

    Highlights: Black-Right-Pointing-Pointer We addressed how ATM suppresses frequency of chromosome translocation. Black-Right-Pointing-Pointer We found ATM/p53-dependent G1 checkpoint suppresses translocation frequency. Black-Right-Pointing-Pointer We found ATM and DNA-PKcs function in a common pathway to suppress translocation. -- Abstract: It is well documented that deficiency in ataxia telangiectasia mutated (ATM) protein leads to elevated frequency of chromosome translocation, however, it remains poorly understood how ATM suppresses translocation frequency. In the present study, we addressed the mechanism of ATM-dependent suppression of translocation frequency. To know frequency of translocation events in a whole genome at once, we performed centromere/telomere FISH and scored dicentric chromosomes, because dicentric and translocation occur with equal frequency and by identical mechanism. By centromere/telomere FISH analysis, we confirmed that chemical inhibition or RNAi-mediated knockdown of ATM causes 2 to 2.5-fold increase in dicentric frequency at first mitosis after 2 Gy of gamma-irradiation in G0/G1. The FISH analysis revealed that ATM/p53-dependent G1 checkpoint suppresses dicentric frequency, since RNAi-mediated knockdown of p53 elevated dicentric frequency by 1.5-fold. We found ATM also suppresses dicentric occurrence independently of its checkpoint role, as ATM inhibitor showed additional effect on dicentric frequency in the context of p53 depletion and Chk1/2 inactivation. Epistasis analysis using chemical inhibitors revealed that ATM kinase functions in the same pathway that requires kinase activity of DNA-dependent protein kinase catalytic subunit (DNA-PKcs) to suppress dicentric frequency. From the results in the present study, we conclude that ATM minimizes translocation frequency through its commitment to G1 checkpoint and DNA double-strand break repair pathway that requires kinase activity of DNA-PKcs.

  1. Balanced translocation in a patient with severe myoclonic epilepsy of infancy disrupts the sodium channel gene SCN1A

    DEFF Research Database (Denmark)

    Møller, Rikke S; Schneider, Lizette M; Hansen, Christian P;

    2008-01-01

    SCN1A have previously been identified in SMEI patients, but this is the first report of a balanced translocation disrupting the SCN1A gene in an epilepsy patient. We therefore recommend that SMEI patients without SCN1A microdeletions or point mutations should be investigated for chromosomal...

  2. Balanced Chromosomal Translocation of Chromosomes 6 and 7: A Rare Male Factor of Spontaneous Abortions

    OpenAIRE

    Resim, Sefa; Kadıoğlu, Ateş; Akman, Tolga; Bayrak, Ayşe Gül; Efe, Erkan

    2013-01-01

    Background: Carriers of structural chromosomal rearrangements such as Robertsonian or reciprocal translocations have an increased risk of spontaneous abortion and producing offspring with genetic abnormalities. Case Report: We report a man with balanced chromosomal translocations located at 6p22, and 7q22. His wife has a history of four spontaneous abortions. Conclusion: Couples with a history of abortions should be investigated cytogenetically, after other causes of mis...

  3. ATM Modulates the Loading of Recombination Proteins onto a Chromosomal Translocation Breakpoint Hotspot

    OpenAIRE

    Jiying Sun; Yukako Oma; Masahiko Harata; Kazuteru Kono; Hiroki Shima; Aiko Kinomura; Tsuyoshi Ikura; Hidekazu Suzuki; Shuki Mizutani; Roland Kanaar; Satoshi Tashiro

    2010-01-01

    textabstractChromosome translocations induced by DNA damaging agents, such as ionizing radiation and certain chemotherapies, alter genetic information resulting in malignant transformation. Abrogation or loss of the ataxia-telangiectasia mutated (ATM) protein, a DNA damage signaling regulator, increases the incidence of chromosome translocations. However, how ATM protects cells from chromosome translocations is still unclear. Chromosome translocations involving the MLL gene on 11q23 are the m...

  4. Disruption of the ATP8A2 gene in a patient with a t(10;13) de novo balanced translocation and a severe neurological phenotype.

    OpenAIRE

    Villard, Laurent; Cacciagli, Pierre; Haddad, Marie-Reine; Mignon-Ravix, Cécile; El-Waly, Bilal; Moncla, Anne; Missirian, Chantal; Chabrol, Brigitte

    2010-01-01

    Abstract Mental retardation is a frequent condition that is clinically and genetically highly heterogeneous. One of the strategies used to identify new causative genes is to take advantage of balanced chromosomal rearrangements in affected patients. We characterized a de novo t(10;13) balanced translocation in a patient with severe mental retardation and major hypotonia. We found that the balanced translocation is molecularly balanced. The translocation breakpoint disrupt the codin...

  5. Molecular and classical cytogenetic analyses demonstrate an apomorphic reciprocal chromosomal translocation in Gorilla gorilla

    OpenAIRE

    Stanyon, Roscoe; Wienberg, Johannes; Romagno, D; F. Bigoni; Jauch, Anna; Cremer, Thomas

    1992-01-01

    The existence of an apomorphic reciprocal chromosomal translocation in the gorilla lineage has been asserted or denied by various cytogeneticists. We employed a new molecular cytogenetic strategy (chromosomal in situ suppression hybridization) combined with high-resolution banding, replication sequence analysis, and fluorochrome staining to demonstrate that a reciprocal translocation between ancestral chromosomes homologous to human chromosome 5 and 17 has indeed occurred.

  6. Two translocations of chromosome 15q associated with dyslexia

    OpenAIRE

    Nopola-Hemmi, J.; Taipale, M.; Haltia, T.; Lehesjoki, A; Voutilainen, A.; Kere, J.

    2000-01-01

    Developmental dyslexia is characterised by difficulties in learning to read. As reading is a complex cognitive process, multiple genes are expected to contribute to the pathogenesis of dyslexia. The genetics of dyslexia has been a target of molecular studies during recent years, but so far no genes have been identified. However, a locus for dyslexia on chromosome 15q21 (DYX1) has been established in previous linkage studies. We have identified two families with balanced translocations involvi...

  7. International study of factors affecting human chromosome translocations

    Czech Academy of Sciences Publication Activity Database

    Sigurdson, A.J.; Ha, M.; Hauptmann, M.; Bhatti, P.; Šrám, Radim; Beskid, Olena; Tawn, E.J.; Whitehouse, C.A.; Lindholm, C.; Nakano, M.; Kodama, Y.; Nakamura, N.; Vorobtsova, I.; Oestreicher, U.; Stephan, G.; Yong, L.C.; Bauchinger, M.; Schmid, E.; Chung, H.W.; Darroudi, F.; Roy, L.; Voisin, P.; Barquinero, J.F.; Livingston, G.; Blakey, D.; Hayata, I.; Zhang, W.; Wang, Ch.; Benett, L.M.; Littlefield, L.G.; Edwards, A.A.; Kleinerman, R.A.; Tucker, J.D.

    2008-01-01

    Roč. 652, č. 2 (2008), s. 112-121. ISSN 1383-5718 R&D Projects: GA MŽP SL/5/160/05; GA MŽP SI/340/2/00; GA MŽP SL/740/5/03 Institutional research plan: CEZ:AV0Z50390512 Keywords : Chromosome translocations * FISH * Background frequency Subject RIV: DN - Health Impact of the Environment Quality Impact factor: 2.363, year: 2008

  8. Inducement of chromosome translocation with small alien segments by irradiating mature female gametes of the whole arm translocation line

    Institute of Scientific and Technical Information of China (English)

    2008-01-01

    Haynaldia villosa Schur. (syn. Dasypyrum villosum Candargy, 2n=14, VV) has been proved to be an important genetic resource for wheat improvement. The development of translocation with small alien chromosome segments, especially interstitial translocation, will be helpful for better utilization of its useful genes. Up to now, most of the reported Triticum aestivum – H. villosa translocation lines are involved in a whole arm or large alien fragments. In this paper, we report a highly efficient approach for the creation of small chromosome segment translocation lines. Before flowering, the female gametes of wheat-H. villosa 6VS/6AL translocation line were irradiated by 60CO-γ ray at 160 Rad/M dosage rate and three dosages (1600, 1920, 2240 Rad). Anthers were removed from the irradiated florets on the same day and the florets were pollinated with normal fresh pollens of T. aestivum cv. Chinese Spring after 2-3 days. Genomic in situ hybridization (GISH) at mitosis metaphase of root-tip cell of M1 plants was used to detect the chromosome structural changes involving 6VS of H. villosa. Among the 534 M1 plants screened, 97 plants contained small segment chromosome structural changes of 6VS, including 80 interstitial translocation chromosomes, 57 terminal translocation chromosomes and 55 deletion chromosomes. For the 2240 Rad dosage treatment, the inducement frequencies of interstitial translo-cation, terminal translocation and deletion were 21.02%, 14.01%, and 14.65%, respectively, which were much higher than those previously reported. The M2 seeds were obtained by backcrossing of 74 M1 plants involving 146 chromosomes structural changes of 6VS, and it was found that the structural aberrations in the M1 plants could be transmitted to their progenies. Irradiating mature female gametes of whole arm translocation is a new and highly efficient approach for creation of small segment chromosome struc-tural changes, especially for interstitial translocations.

  9. Human chromosome 'painting' probes used to measure chromosome translocations in non-human primates: extrapolations from monkey to man

    International Nuclear Information System (INIS)

    Chromosome painting with a probe specific for human chromosome 4 was used to 'paint' monkey chromosomes to measure the persistence of translocations in peripheral blood lymphocytes of a rhesus monkey exposed to ionising radiation more than 25 years ago. The human probe painted the entire length of two large rhesus and cynomolgus monkey chromosomes with no cross hybridisation to other chromosomes, facilitating rapid detection of chromosome translocations. Translocation frequency measured in one monkey was significantly higher than that for unirradiated animals. The use of human probes to obtain cytogenetic data from Macaca species irradiated years previously or exposed to chemical clastogens makes this genus an excellent model for studying genetic damage. (author)

  10. Induction of site-specific chromosomal translocations in embryonic stem cells by CRISPR/Cas9

    OpenAIRE

    Junfeng Jiang; Li Zhang; Xingliang Zhou; Xi Chen; Guanyi Huang; Fengsheng Li; Ruizhe Wang; Nancy Wu; Youzhen Yan; Chang Tong; Sankalp Srivastava; Yue Wang; Houqi Liu; Qi-Long Ying

    2016-01-01

    Chromosomal translocation is the most common form of chromosomal abnormality and is often associated with congenital genetic disorders, infertility, and cancers. The lack of cellular and animal models for chromosomal translocations, however, has hampered our ability to understand the underlying disease mechanisms and to develop new therapies. Here, we show that site-specific chromosomal translocations can be generated in mouse embryonic stem cells (mESCs) via CRISPR/Cas9. Mouse ESCs carrying ...

  11. Inducement of chromosome translocation with small alien segments by irradiating mature female gametes of the whole arm translocation line

    Institute of Scientific and Technical Information of China (English)

    CHEN ShengWei; CHEN PeiDu; WANG XiuE

    2008-01-01

    Haynaldia villosa Schur. (syn. Dasypyrum villosum Candargy, 2n=14, VV) has been proved to be an Important genetic resource for wheat improvement. The development of translocation with small alien chromosome segments, especially interstitial translocation, will be helpful for better utilization of its useful genes. Up to now, most of the reported Triticum aestivum - H. villosa translocation lines are involved in a whole arm or large alien fragments. In this paper, we report a highly efficient approach for the creation of small chromosome segment translocation lines. Before flowering, the female gametes of wheat-H, villosa 6VS/6AL trsnslocation line were irradiated by 60Co-γ ray at 160 Rad/M dosage rate and three dosages (1600, 1920, 2240 Rad). Anthers were removed from the irradiated florets on the same day and the florets were pollinated with normal fresh pollens of T. aestivum cv. Chinese Spring after 2-3 days. Genomic in situ hybridization (GISH) at mitosis metaphase of root-tip cell of M1 plants was used to detect the chromosome structural changes involving 6VS of H. villosa. Among the 534 M1 plants screened, 97 plants contained small segment chromosome structural changes of 6VS, including 80 interstitial translocation chromosomes, 57 terminal translocation chromosomes and 55 deletion chromosomes. For the 2240 Rad dosage treatment, the inducement frequencies of interstitial translocation, terminal translocation and deletion were 21.02%, 14.01%, and 14.65%, respectively, which were much higher than those previously reported. The M2 seeds were obtained by bsckcrossing of 74 M1 plants involving 146 chromosomes structural changes of 6VS, and it was found that the structural aberrations in the M1 plants could be transmitted to their progenies. Irradiating mature female gametes of whole arm translocation is a new and highly efficient approach for creation of small segment chromosome structural changes, especially for interstitial translocations.

  12. Induction of site-specific chromosomal translocations in embryonic stem cells by CRISPR/Cas9

    Science.gov (United States)

    Jiang, Junfeng; Zhang, Li; Zhou, Xingliang; Chen, Xi; Huang, Guanyi; Li, Fengsheng; Wang, Ruizhe; Wu, Nancy; Yan, Youzhen; Tong, Chang; Srivastava, Sankalp; Wang, Yue; Liu, Houqi; Ying, Qi-Long

    2016-01-01

    Chromosomal translocation is the most common form of chromosomal abnormality and is often associated with congenital genetic disorders, infertility, and cancers. The lack of cellular and animal models for chromosomal translocations, however, has hampered our ability to understand the underlying disease mechanisms and to develop new therapies. Here, we show that site-specific chromosomal translocations can be generated in mouse embryonic stem cells (mESCs) via CRISPR/Cas9. Mouse ESCs carrying translocated chromosomes can be isolated and expanded to establish stable cell lines. Furthermore, chimeric mice can be generated by injecting these mESCs into host blastocysts. The establishment of ESC-based cellular and animal models of chromosomal translocation by CRISPR/Cas9 provides a powerful platform for understanding the effect of chromosomal translocation and for the development of new therapeutic strategies. PMID:26898344

  13. BCR translocation to derivative chromosome 2: a new case of chronic myeloid leukemia with a complex variant translocation and Philadelphia chromosome

    OpenAIRE

    Al-Achkar, Walid; Wafa, Abdulsamad; ALMEDANI, SUHER

    2010-01-01

    The well-known typical fusion gene BCR/ABL is observed in connection with a complex translocation event in 5–8% of cases of chronic myeloid leukemia (CML). The present study described an exceptional CML case with complex chromosomal aberrations not previously observed. Aberrations included a translocated BCR to the derivative chromosome 2 [der(2)] that also involved a four-chromosome translocation, implying chromosomal regions 1p32 and 2q21, besides 9q34 and 22q11.2, which were characterized ...

  14. Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability

    OpenAIRE

    Maduro, Valerie; Pusey, Barbara N.; Cherukuri, Praveen F.; Atkins, Paul; du Souich, Christèle; Rupps, Rosemarie; Limbos, Marjolaine; Adams, David R; Bhatt, Samarth S.; Eydoux, Patrice; Links, Amanda E.; Lehman, Anna; Malicdan, May C.; Mason, Christopher E.; Morimoto, Marie

    2016-01-01

    Background Mutations of TCF4, which encodes a basic helix-loop-helix transcription factor, cause Pitt-Hopkins syndrome (PTHS) via multiple genetic mechanisms. TCF4 is a complex locus expressing multiple transcripts by alternative splicing and use of multiple promoters. To address the relationship between mutation of these transcripts and phenotype, we report a three-generation family segregating mild intellectual disability with a chromosomal translocation disrupting TCF4. Results Using whole...

  15. Induction of Chromosomal Translocations in Mouse and Human Cells Using Site-Specific Endonucleases

    OpenAIRE

    Weinstock, David M.; Brunet, Erika; Jasin, Maria

    2008-01-01

    Reciprocal chromosomal translocations are early and essential events in the malignant transformation of several tumor types, yet the precise mechanisms that mediate translocation formation are poorly understood. We review here the development of approaches to induce and recover translocations between two targeted DNA double-strand breaks (DSBs) in mammalian chromosomes. Using mouse cells, we find that nonhomologous end-joining readily mediates translocation formation between two DSBs generate...

  16. Chromosomal translocation involving the beta T cell receptor gene in acute leukemia

    OpenAIRE

    1988-01-01

    DNA spanning a t(7;19) chromosomal translocation breakpoint was isolated from the human T cell line SUP-T7 established from an acute lymphoblastic leukemia. Nucleotide sequence analysis showed that the point of crossover on chromosome 7 occurred immediately adjacent to joining segment J beta 1.1 within the TCR-beta gene, suggesting that this translocation resulted from an error in TCR gene rearrangement. On chromosome 19, the translocation occurred within a previously uncharacterized transcri...

  17. Development and Identification of Triticum aestivum L.-Thinopyrum bessarabicum L(o)ve Chromosome Translocations

    Institute of Scientific and Technical Information of China (English)

    ZHUANG Li-fang; QI Zeng-jun; CHEN Pei-du; FENG Yi-gao; LIU Da-jun

    2004-01-01

    With ass7istance of chromosome C-banding and genomic in situ hybridization(GISH)combined with meiotic analysis,five germplasms with homozygous wheat-Th. Bessarabicum chromosome translocations were developed and identified among BC1F5 progenies of the cross between T. Aestivum cv. Chinese Spring and Chinese Spring-Th. Bessarabicum amphiploid. These lines included Tj01 and Tj02(2n=44)containing a pair of wheat-Th. Bessarabicum translocation chromosomes besides a pair of added Th. Bessarabicum chromosomes,Tj03(2n=44)with a pair of added interspecific translocation chromosomes,Tj04(2n=44)containing a pair of interspecific translocation chromosomes besides an added pair of Th. Bessarabicum chromosome arms and Tj05(2n=46)containing a pair of interspecific translocation chromosomes besides two pairs of added intact alien chromosomes. The breakpoints of all the translocations were found to be not around centromere. Meanwhile,all the lines showed normal plant growth,development and fertility,while the translocation chromosomes transmitted regularly. The obtained translocations might be of use for transferring elite genes from Th. Bessarabicum into wheat.

  18. Experimental observation of G banding verifying X-ray workers' chromosome translocation detected by FISH

    International Nuclear Information System (INIS)

    Objective: FISH is the most effective way of detecting chromosome aberration and many factors affect its accuracy. G-banding is used to verify the results of early X-ray workers' chromosome translocation examined by FISH. Methods: The chromosome translocations of early X-ray workers have been analysed by FISH (fluorescence in situ hybridization) and G-banding, yields of translocation treated with statistics. Results: The chromosome aberrations frequencies by tow methods are closely related. Conclusion: FISH is a feasible way to analyse chromosome aberrations of X-ray workers and reconstruct dose

  19. Mass Production of Intergeneric Chromosomal Translocations through Pollen Irradiation of Triticum durum-Haynaldia villosa Amphiploid

    Institute of Scientific and Technical Information of China (English)

    2007-01-01

    Haynaldia villosa possesses a lot of important agronomic traits and has been a powerful gene resource for wheat improvement. However,only several wheat-H. Villosa translocation lines have been reported so far.In this study,we attempted to develop an efficient method for inducing wheat-H. Villosa chromosomal translocations.Triticum durum-Haynaldia villosa amphiploid pollen treated with 1200 rad 60Co-γ-rays was pollinated to Triticum aestivum cv.'Chinese Spring'.Ninety-eight intergeneric translocated chromosomes between T. Durum and H.villosa were detected by genomic In situ hybridization in 44 of 61 M1 plants,indicating a translocation occurrence frequency of 72.1%;much higher than ever reported.There were 26,62 and 10 translocated chromosomes involving whole arm translocations,terminal translocations,and intercarlary translocations,respectively.Of the total 108 breakage-fusion events,79 involved interstitial regions and 29 involved centric regions.The ratio of small segment terminal translocations(W·W-V) was much higher than that of large segment terminal translocations (W-V·V).All of the M1 plants were self-sterile,and their backcross progeny was all obtained with Chinese Spring as pollen donors.Transmission analysis showed that most of the translocations were transmittable.This study provides a new strategy for rapid mass production of wheat-alien chromosomal translocations.especially terminal translocations that will be more significant for wheat improvement.

  20. Schizophrenia and Affective Disorders—Cosegregation with a Translocation at Chromosome 1q42 That Directly Disrupts Brain-Expressed Genes: Clinical and P300 Findings in a Family

    OpenAIRE

    Blackwood, D H R; Fordyce, A.; Walker, M. T.; St. Clair, D. M.; Porteous, D. J.; Muir, W. J.

    2001-01-01

    A family with a (1;11)(q42;q14.3) translocation significantly linked to a clinical phenotype that includes schizophrenia and affective disorders is described. This translocation generates a LOD score of 3.6 when the disease phenotype is restricted to schizophrenia, of 4.5 when the disease phenotype is restricted to affective disorders, of 7.1 when relatives with recurrent major depression, with bipolar disorder, or with schizophrenia are all classed as affected. This evidence for linkage is a...

  1. Translocation frequencies measured in individuals exposed to low levels of ionizing radiation using chromosome painting

    International Nuclear Information System (INIS)

    Chromosome painting, the selective staining of one or more chromosomes by fluorescence in situ hybridization (FISH) using whole-chromosome probes, facilitates rapid and accurate detection of chromosome translocations in human lymphocytes. Using this method, entire lengths of targeted chromosomes may be stained. After chromosome painting, interchromosomal exchange aberrations become rapidly apparent as bicolor chromosomes when all non-painted chromosomes are counter stained a different color. Here, following a brief discussion of this methodology, the use is described of chromosome painting for measuring translocation frequencies in individuals exposed years to decades previously to whole-body doses of ionizing radiation. Also the use of 3-color FISH for increasing the translocation detection efficiency is discussed. (author). 10 refs., 1 fig

  2. Use of chromosome translocations for measuring prior environment exposures in humans

    Energy Technology Data Exchange (ETDEWEB)

    Tucker, J. D.

    1997-05-01

    Recent advances in cytogenetic methodology are beginning to have a major impact upon our ability to provide assessments of environmental exposure in humans. The advent of fluorescent-based techniques for `painting` whole chromosomes has made the analysis of chromosome translocations rapid, specific, sensitive and routine. Chromosome painting has been used to address a wide variety of scientific questions, resulting in an increased understanding of the biological consequences of adverse environmental exposure. This paper describes the use of chromosome translocations as a biological marker of exposure and effect in humans. The relevance of translocations is discussed, as are the advantages and disadvantages of painting compared to classical cytogenetic methods for translocation evaluation. The factors to consider in the use of translocations as a retrospective indicator of exposure are then described. Several theoretical parameters that are important to the use of translocations are provided, and the paper concludes with a vision for the future of cytogenetic methodology.

  3. Population-based survey of cancer risks in chromosome 3 translocation carriers

    DEFF Research Database (Denmark)

    Woodward, Emma R; Skytte, Anne-Bine; Cruger, Dorthe G;

    2010-01-01

    Familial renal cell carcinoma (RCC) is genetically heterogeneous and may be associated with germline mutations in a number of genes. Twelve different constitutional translocations involving chromosome 3 have also been described in association with inherited RCC. In some families the lifetime risk...... of RCC in chromosome 3 translocation carriers has been estimated to be more than 80%; however the cancer risks in patients with chromosome 3 translocations not ascertained because of a family history of RCC are not well defined. We report a retrospective population-based study using Danish national...... cytogenetic and cancer registries to clarify tumor risks associated with constitutional translocations involving chromosome 3. We identified 222 (105 females, 117 males) individuals with a constitutional chromosome 3 translocation and compared their cancer risks to those of the Danish population. None of the...

  4. The Incidence and Type of Chromosomal Translocations from Prenatal Diagnosis of 3800 Patients in the Republic of Macedonia

    OpenAIRE

    Vasilevska, M; Ivanovska, E; Kubelka Sabit, K; E. Sukarova-Angelovska; Dimeska, G

    2013-01-01

    Robertsonian and reciprocal chromosomal translocations are the most frequent type of structural chromosomal aberrations in the human population. We report the frequency and type of detected translocations in 10 years of prenatal diagnosis of 3800 prenatal samples. The materials came from amniocentesis and chorionic villus samples (CVS). We detected seven Robertsonian translocations (0.18%), eight autosomal reciprocal translocations (0.21%) and one sex chromosome translocation (0.03%). The ove...

  5. Genome-Wide Translocation Sequencing Reveals Mechanisms of Chromosome Breaks and Rearrangements in B Cells

    OpenAIRE

    Chiarle, Roberto; Zhang, Yu; Frock, Richard L.; Lewis, Susanna M.; Molinie, Benoit; Ho, Yu-Jui; Myers, Darienne R; Choi, Vivian W.; Compagno, Mara; Malkin, Daniel J.; Neuberg, Donna; Monti, Stefano; Giallourakis, Cosmas C.; Gostissa, Monica; Alt, Frederick W.

    2011-01-01

    While chromosomal translocations are common pathogenetic events in cancer, mechanisms that promote them are poorly understood. To elucidate translocation mechanisms in mammalian cells, we developed high throughput, genome-wide translocation sequencing (HTGTS). We employed HTGTS to identify tens of thousands of independent translocation junctions involving fixed I-SceI meganuclease-generated DNA double strand breaks (DSBs) within the c-myc oncogene or IgH locus of B lymphocytes induced for Act...

  6. Prenatal origin of chromosomal translocations in acute childhood leukemia: Implications and future directions

    OpenAIRE

    McHale, C M; Smith, M. T.

    2004-01-01

    We, and others, have demonstrated an in utero origin for translocations associated with childhood leukemia, with latency periods in some cases exceeding 10 years. The mechanism of generation of most of the translocations is thought to be aberrant repair following abortive apoptosis, rather than V(D)J recombination or exposure to topoisomerase II inhibitors. Folate supplementation may prevent some of the chromosome breakage leading to translocation formation. Translocations t(8;21) and t(12;21...

  7. Disrupting Dimerization Translocates Soluble Epoxide Hydrolase to Peroxisomes.

    Directory of Open Access Journals (Sweden)

    Jonathan W Nelson

    Full Text Available The epoxyeicosatrienoic acid (EET neutralizing enzyme soluble epoxide hydrolase (sEH is a neuronal enzyme, which has been localized in both the cytosol and peroxisomes. The molecular basis for its dual localization remains unclear as sEH contains a functional peroxisomal targeting sequence (PTS. Recently, a missense polymorphism was identified in human sEH (R287Q that enhances its peroxisomal localization. This same polymorphism has also been shown to generate weaker sEH homo-dimers. Taken together, these observations suggest that dimerization may mask the sEH PTS and prevent peroxisome translocation. In the current study, we test the hypothesis that dimerization is a key regulator of sEH subcellular localization. Specifically, we altered the dimerization state of sEH by introducing substitutions in amino acids responsible for the dimer-stabilizing salt-bridge. Green Fluorescent Protein (GFP fusions of each of mutants were co-transfected into mouse primary cultured cortical neurons together with a PTS-linked red fluorescent protein to constitutively label peroxisomes. Labeled neurons were analyzed using confocal microscopy and co-localization of sEH with peroxisomes was quantified using Pearson's correlation coefficient. We find that dimer-competent sEH constructs preferentially localize to the cytosol, whereas constructs with weakened or disrupted dimerization were preferentially targeted to peroxisomes. We conclude that the sEH dimerization status is a key regulator of its peroxisomal localization.

  8. DNA ligase III promotes alternative nonhomologous end-joining during chromosomal translocation formation.

    OpenAIRE

    Deniz Simsek; Erika Brunet; Sunnie Yan-Wai Wong; Sachin Katyal; Yankun Gao; McKinnon, Peter J.; Jacqueline Lou; Lei Zhang; James Li; Rebar, Edward J; Gregory, Philip D.; Michael C. Holmes; Maria Jasin

    2011-01-01

    International audience Nonhomologous end-joining (NHEJ) is the primary DNA repair pathway thought to underlie chromosomal translocations and other genomic rearrangements in somatic cells. The canonical NHEJ pathway, including DNA ligase IV (Lig4), suppresses genomic instability and chromosomal translocations, leading to the notion that a poorly defined, alternative NHEJ (alt-NHEJ) pathway generates these rearrangements. Here, we investigate the DNA ligase requirement of chromosomal translo...

  9. Disruption of the ATE1 and SLC12A1 Genes by Balanced Translocation in a Boy with Non-Syndromic Hearing Loss

    OpenAIRE

    Vona, B; Neuner, C.; El Hajj, N.; Schneider, E.; Farcas, R.; Beyer, V; Zechner, U; Keilmann, A; Poot, M.; Bartsch, O.; Nanda, I; Haaf, T

    2013-01-01

    We report on a boy with non-syndromic hearing loss and an apparently balanced translocation t(10;15)(q26.13;q21.1). The same translocation was found in the normally hearing brother, father and paternal grandfather; however, this does not exclude its involvement in disease pathogenesis, for example, by unmasking a second mutation. Breakpoint analysis via FISH with BAC clones and long-range PCR products revealed a disruption of the arginyltransferase 1 (ATE1) gene on translocation chromosome 10...

  10. Parental origin of the X chromosome in a patient with a Robertsonian translocation and Turner's syndrome.

    OpenAIRE

    Krajinovic, M; Ivanovic, K; Mestroni, L; Diklic, V; Nikolis, J

    1994-01-01

    We report on a proband with both a Robertsonian translocation and Turner's syndrome. Study of the parental origin of the X chromosome performed by microsatellite analysis indicates paternal origin of the X chromosome (Xpat). The occurrence of chromosome aberrations as a consequence of interchromosomal interactions is discussed.

  11. Three-dimensional genome architecture influences partner selection for chromosomal translocations in human disease.

    Directory of Open Access Journals (Sweden)

    Jesse M Engreitz

    Full Text Available Chromosomal translocations are frequent features of cancer genomes that contribute to disease progression. These rearrangements result from formation and illegitimate repair of DNA double-strand breaks (DSBs, a process that requires spatial colocalization of chromosomal breakpoints. The "contact first" hypothesis suggests that translocation partners colocalize in the nuclei of normal cells, prior to rearrangement. It is unclear, however, the extent to which spatial interactions based on three-dimensional genome architecture contribute to chromosomal rearrangements in human disease. Here we intersect Hi-C maps of three-dimensional chromosome conformation with collections of 1,533 chromosomal translocations from cancer and germline genomes. We show that many translocation-prone pairs of regions genome-wide, including the cancer translocation partners BCR-ABL and MYC-IGH, display elevated Hi-C contact frequencies in normal human cells. Considering tissue specificity, we find that translocation breakpoints reported in human hematologic malignancies have higher Hi-C contact frequencies in lymphoid cells than those reported in sarcomas and epithelial tumors. However, translocations from multiple tissue types show significant correlation with Hi-C contact frequencies, suggesting that both tissue-specific and universal features of chromatin structure contribute to chromosomal alterations. Our results demonstrate that three-dimensional genome architecture shapes the landscape of rearrangements directly observed in human disease and establish Hi-C as a key method for dissecting these effects.

  12. Unique Variant Complex Chromosome Translocation in Myeloid Leukemia: Report of a Case and Literature Review

    Directory of Open Access Journals (Sweden)

    Abolfazl Movafagh

    2012-04-01

    Full Text Available Background: According to the literature, there are a number of chronic and acute myeloid leukemias with unique, complex chromosome translocations. This study aims to conduct a brief review of the incidence of complex chromosome translocations in myeloid leukemia and reports a case of myeloid leukemia with complex chromosome translocations.Methods: We conducted a web-based search for all peer review articles published on the subject of complex chromosome tranlsocations in chronic and acute myeloid leukemia in MEDLINE, PubMed and Mitelman (http://cgapanci.nih.gov/chromosomes/Mitelman databases in addition to other pertinent web references. In addition, we performed conventional cytogenetic studies of 24- to 72-h cultures on bonemarrow/peripheral blood cells obtained from the current case. Cells were finally treated by the giemsa-trypsin-giemsa banding technique.Results: The result of this case revealed an abnormal karyotype that had a novel complex translocation which involved chromosomes 2, 5, 9, and 22. We performed karyotyping after the initiation of chemotherapy. Karyotyping results showed a complex karyotype 46,XX,t(9;22;2;5.Conclusion: This study discusses a case of chronic myeloid leukemia with complex chromosome translocations and may provide novel information regarding these translocations in leukemias.

  13. Development of Triticum aestivum-Leymus racemosus translocation lines using gametocidal chromosomes

    Institute of Scientific and Technical Information of China (English)

    袁建华; 陈佩度; 刘大钧

    2003-01-01

    Specific chromosomes of certain Aegilops species introduced into wheat genome background may often facilitate chromosome breakage and refusion, and finally result in a variety of chromosome restructuring. Such a phenomenon is commonly called gametocidal effect of the chromosomes. The chromosome 2C of Ae. cylindrica is one of such chromosomes. In the present study, scab resistant wheat-L. racemosus addition lines involving chromosomes Lr.2 and Lr.7 were crossed to wheat-Ae. cylindrica disomic addition line Add2C. Then F1 hybrids were subsequently backcrossed with wheat cv "Chinese Spring". BC1 plants with chromosome structural aberration were identified by C-banding. In the self-pollinated progenies of these plants, three translocation lines were developed and characterized by mitotic and meiotic analysis combined with C-banding and fluorescent in situ hybridization (FISH) using biotin-labeled genomic DNA of L. racemosus as probe. Some other putative translocation lines to be further characterized were also found. The practicability and efficiency of the translocation between wheat and alien chromosomes induced by gametocidal chromosomes, as well as the potential use of the developed alien translocation lines were also discussed.

  14. Frequency and distribution analysis of chromosomal translocations induced by x-ray in human lymphocytes

    International Nuclear Information System (INIS)

    The characteristic of ionizing radiation suggests that induced chromosomal damage in the form of translocations would appear to be randomly distributed. However, the outcome of tests performed in vitro and in vivo (irradiated individuals) are contradictories. The most translocation-related chromosomes, as far as some studies reveal on one hand, appear to be less involved in accordance with others. These data, together with those related to molecular mechanisms involved in translocations production suggest that in G0 -irradiated cells, the frequency and distribution of this kind of chromosomal rearrangement, does not take place at random. They seem to be affected by in-nucleus chromosome distribution, by each chromosome's DNA length and functional features, by the efficiency of DNA repair mechanisms, and by inter individual differences. The objective of this study was to establish the frequency pattern of each human chromosome involved in radio-induced translocations, as well as to analyze the importance the chromosome length, the activity of DNA polymerase- dependant repair mechanisms, and inter individual differences within the scope of such distribution. To achieve the goals, peripheral blood lymphocytes from healthy donors were irradiated in presence and absence of 2'-3' dideoxithimidine (ddThd), a Β - DNA polymerase inhibitor, which takes part in the base repair mechanism (B E R). The results showed that: The presence of ddThd during the irradiation increase the basal frequency of radioinduced translocations in 60 %. This result suggests that ddThd repair synthesis inhibition can be in itself a valid methodology for radiation-induced bases damage assessment, damage which if not BER-repaired may result in translocation-leading double strand breaks. A statistically significant correlation between translocation frequency and chromosome length, in terms of percentage of genome, has been noticed both in (basal) irradiation and in irradiation with ddThd inhibitor

  15. ATM modulates the loading of recombination proteins onto a chromosomal translocation breakpoint hotspot

    NARCIS (Netherlands)

    J. Sun (Jiying); Y. Oma (Yukako); M. Harata (Masahiko); K. Kono (Kazuteru); H. Shima (Hiroki); A. Kinomura (Aiko); T. Ikura (Tsuyoshi); H. Suzuki (Hidekazu); S. Mizutani (Shuki); R. Kanaar (Roland); S. Tashiro (Satoshi)

    2010-01-01

    textabstractChromosome translocations induced by DNA damaging agents, such as ionizing radiation and certain chemotherapies, alter genetic information resulting in malignant transformation. Abrogation or loss of the ataxia-telangiectasia mutated (ATM) protein, a DNA damage signaling regulator, incre

  16. Involvement of chromosome X in primary cytogenetic change in human neoplasia: nonrandom translocation in synovial sarcoma

    Energy Technology Data Exchange (ETDEWEB)

    Turc-Carel, C.; Cin, P.D.; Limon, J.; Rao, U.; Li, F.P.; Corson, J.M.; Zimmerman, R.; Parry, D.M.; Cowan, J.M.; Sandberg, A.A.

    1987-04-01

    A translocation that involves chromosome X (band p11.2) and chromosome 18 (band q11.2) was observed in short-term in vitro cultures of cells from five synovial sarcomas and one malignant fibrous histiocytoma. In four of these tumors, the translocation t(X;18)(p11.2;q11.2) was reciprocal. The two other tumors had complex translocations: t(X;18;21)(p11.2;q11.2;p13) and t(X;15;18)(p11.2;q23;q11.2). A translocation between chromosomes X and 18 was not detected in other histological types of soft tissue sarcoma. The X;18 rearrangement appears to characterize the synovial sarcoma and is the first description of a primary, nonrandom change in the sex chromosome of a human solid tumor.

  17. Three-Dimensional Genome Architecture Influences Partner Selection for Chromosomal Translocations in Human Disease

    OpenAIRE

    Engreitz, Jesse Michael; Agarwala, Vineeta; Mirny, Leonid A.

    2012-01-01

    Chromosomal translocations are frequent features of cancer genomes that contribute to disease progression. These rearrangements result from formation and illegitimate repair of DNA double-strand breaks (DSBs), a process that requires spatial colocalization of chromosomal breakpoints. The “contact first” hypothesis suggests that translocation partners colocalize in the nuclei of normal cells, prior to rearrangement. It is unclear, however, the extent to which spatial interactions based on thre...

  18. CHROMOSOMAL SUBLOCALIZATION OF THE 2 13 TRANSLOCATION BREAKPOINT IN ALVEOLAR RHABDOMYOSARCOMA

    NARCIS (Netherlands)

    SHAPIRO, DN; VALENTINE, MB; SUBLETT, JE; SINCLAIR, AE; TEREBA, AM; SCHEFFER, H; BUYS, CHCM; LOOK, AT

    1992-01-01

    A characteristic balanced reciprocal chromosomal translocation [t(2;13)(q35;q14)] has been identified in more than 50% of alveolar rhabdomyosarcomas. As the first step in characterization of the genes involved in this translocation, we constructed somatic cell hybrids that retained either the deriva

  19. A Constitutional Translocation t(1;17)(p36.2;q11.2) in a Neuroblastoma Patient Disrupts the Human NBPF1 and ACCN1 Genes

    Science.gov (United States)

    Staes, Katrien; Vandesompele, Jo; Laureys, Geneviève; De Smet, Els; Berx, Geert; Speleman, Frank; van Roy, Frans

    2008-01-01

    The human 1p36 region is deleted in many different types of tumors, and so it probably harbors one or more tumor suppressor genes. In a Belgian neuroblastoma patient, a constitutional balanced translocation t(1;17)(p36.2;q11.2) may have led to the development of the tumor by disrupting or activating a gene. Here, we report the cloning of both translocation breakpoints and the identification of a novel gene that is disrupted by this translocation. This gene, named NBPF1 for Neuroblastoma BreakPoint Family member 1, belongs to a recently described gene family encoding highly similar proteins, the functions of which are unknown. The translocation truncates NBPF1 and gives rise to two chimeric transcripts of NBPF1 sequences fused to sequences derived from chromosome 17. On chromosome 17, the translocation disrupts one of the isoforms of ACCN1, a potential glioma tumor suppressor gene. Expression of the NBPF family in neuroblastoma cell lines is highly variable, but it is decreased in cell lines that have a deletion of chromosome 1p. More importantly, expression profiling of the NBPF1 gene showed that its expression is significantly lower in cell lines with heterozygous NBPF1 loss than in cell lines with a normal 1p chromosome. Meta-analysis of the expression of NBPF and ACCN1 in neuroblastoma tumors indicates a role for the NBPF genes and for ACCN1 in tumor aggressiveness. Additionally, DLD1 cells with inducible NBPF1 expression showed a marked decrease of clonal growth in a soft agar assay. The disruption of both NBPF1 and ACCN1 genes in this neuroblastoma patient indicates that these genes might suppress development of neuroblastoma and possibly other tumor types. PMID:18493581

  20. A constitutional translocation t(1;17(p36.2;q11.2 in a neuroblastoma patient disrupts the human NBPF1 and ACCN1 genes.

    Directory of Open Access Journals (Sweden)

    Karl Vandepoele

    Full Text Available The human 1p36 region is deleted in many different types of tumors, and so it probably harbors one or more tumor suppressor genes. In a Belgian neuroblastoma patient, a constitutional balanced translocation t(1;17(p36.2;q11.2 may have led to the development of the tumor by disrupting or activating a gene. Here, we report the cloning of both translocation breakpoints and the identification of a novel gene that is disrupted by this translocation. This gene, named NBPF1 for Neuroblastoma BreakPoint Family member 1, belongs to a recently described gene family encoding highly similar proteins, the functions of which are unknown. The translocation truncates NBPF1 and gives rise to two chimeric transcripts of NBPF1 sequences fused to sequences derived from chromosome 17. On chromosome 17, the translocation disrupts one of the isoforms of ACCN1, a potential glioma tumor suppressor gene. Expression of the NBPF family in neuroblastoma cell lines is highly variable, but it is decreased in cell lines that have a deletion of chromosome 1p. More importantly, expression profiling of the NBPF1 gene showed that its expression is significantly lower in cell lines with heterozygous NBPF1 loss than in cell lines with a normal 1p chromosome. Meta-analysis of the expression of NBPF and ACCN1 in neuroblastoma tumors indicates a role for the NBPF genes and for ACCN1 in tumor aggressiveness. Additionally, DLD1 cells with inducible NBPF1 expression showed a marked decrease of clonal growth in a soft agar assay. The disruption of both NBPF1 and ACCN1 genes in this neuroblastoma patient indicates that these genes might suppress development of neuroblastoma and possibly other tumor types.

  1. A small (sSMC) chromosome 22 due to a maternal translocation between chromosomes 8 and 22: a case report.

    Science.gov (United States)

    Mundhofir, F E P; Kooper, A J A; Winarni, T I; Smits, A P T; Faradz, S M H; Hamel, B C J

    2010-01-01

    We report on a boy with partial trisomies for chromosomes 8 and 22 caused by the presence of a small supernumerary marker chromosome (sSMC), a der(22)t(8;22)(p22;q11.21), inherited from a t(8;22)(p22;q11.21) translocation carrier mother. He has mild mental retardation, unability to speak distinct words and several minor anomalies i.e. high forehead and hairline, telecanthus, upslanting palpebral fissures, depressed nasal bridge, nail hypoplasia, toe position anomaly and 5th finger clinodactyly. He has two maternal uncles and one maternal aunt with mental retardation. G-banding technique showed 47,XY,+mar whilst his mother's karyotype showed a balanced reciprocal translocation between the chromosomes 8 and 22. Fluorescence In Situ Hybridization (FISH) technique with probes for centromere 22 and 8pter were used to detect the origin of marker chromosome and confirmed the marker chromosome in the proband showing to be extra chromosomal material originated from chromosome 8 and 22. Additional genome wide microarray analysis, using the Affymetrix Nspl 250K SNP array platform was performed to further characterize the marker chromosome and resulted in a der(22)t(8;22)(p22;q11.21). Furthermore, cytogenetic analysis of three affected family members showed the same unbalanced translocation, due to 3:1 meiotic segregation. This indicated the viability of this unbalanced pattern and combined with the recurrent miscarriages by the proband's mother, the mechanism of transmitting extrachromosomal material is probably not a random process. Since, there is no similar translocation (8p;22q) reported and the chromosomal translocation largely exists of additional 8p22-8pter we compare the clinical outcomes with reported cases of 8p22-8pter triplication, although there is a part of genetic material derived from chromosome 22 present. This unique familial chromosome translocation case from Indonesia will give insight in the underlying mechanism of this recurrent chromosomal abnormality

  2. Chromosome landmarks and autosome-sex chromosome translocations in Rumex hastatulus, a plant with XX/XY1Y2 sex chromosome system.

    Science.gov (United States)

    Grabowska-Joachimiak, Aleksandra; Kula, Adam; Książczyk, Tomasz; Chojnicka, Joanna; Sliwinska, Elwira; Joachimiak, Andrzej J

    2015-06-01

    Rumex hastatulus is the North American endemic dioecious plant with heteromorphic sex chromosomes. It is differentiated into two chromosomal races: Texas (T) race characterised by a simple XX/XY sex chromosome system and North Carolina (NC) race with a polymorphic XX/XY1Y2 sex chromosome system. The gross karyotype morphology in NC race resembles the derived type, but chromosomal changes that occurred during its evolution are poorly understood. Our C-banding/DAPI and fluorescence in situ hybridization (FISH) experiments demonstrated that Y chromosomes of both races are enriched in DAPI-positive sequences and that the emergence of polymorphic sex chromosome system was accompanied by the break of ancestral Y chromosome and switch in the localization of 5S rDNA, from autosomes to sex chromosomes (X and Y2). Two contrasting domains were detected within North Carolina Y chromosomes: the older, highly heterochromatinised, inherited from the original Y chromosome and the younger, euchromatic, representing translocated autosomal material. The flow-cytometric DNA estimation showed ∼3.5 % genome downsizing in the North Carolina race. Our results are in contradiction to earlier reports on the lack of heterochromatin within Y chromosomes of this species and enable unambiguous identification of autosomes involved in the autosome-heterosome translocation, providing useful chromosome landmarks for further studies on the karyotype and sex chromosome differentiation in this species. PMID:25394583

  3. Use of FISH-translocations analyses for retrospective biological dosimetry: How stable are stable chromosome aberrations?

    International Nuclear Information System (INIS)

    Chromosome aberrations, in particular dicentrics, in peripheral blood lymphocytes are used to estimate the absorbed dose immediately following a radiation accident. However, difficulties for dose estimation arise with old exposures, due to a decline of cells containing unstable dicentric aberrations. The fluorescence in situ hybridisation (FISH) technique employing chromosome specific DNA libraries to 'paint' individual human chromosomes has opened new perspectives for rapid and reliable detection of stable chromosome aberrations such as translocations. The inherent stability of translocations over cell generations has enabled them to be used as a biodosemeter. However, due to the limited life of circulating T-lymphocytes, a level of uncertainty exists on the long-term persistence of stable translocations. The objectives of the present work are to present the current state of knowledge on the stability of translocations detected by FISH. The following aspects have been considered; (1) experience so far of retrospective biological dosimetry in humans following accidental and occupational over-exposure, (2) animal studies using mice and monkeys, (3) the influence of subsequent cell divisions on the yield and persistence of translocations following in vitro irradiation of human lymphocytes, and (4) the needs for further work to standardise and validate the use of FISH as a biological dosemeter, and to investigate the influence of various parameters such as radiation quality, dose rate and the discrimination of sub-types of translocations on persistence. (author)

  4. Chromosome translocations as biological dosimeter identified by in situ fluorescent hybridization (FISH)

    International Nuclear Information System (INIS)

    Chromosomal aberration analysis in lymphocytes is used for dose assessment by workers overexposed to ionizing radiation. The conventional method is based on the dicentric metaphase chromosomes and/or micronucleus scoring, which gives thoroughly satisfactory results for accidental and recent exposures. Nevertheless, when evaluating acute doses occurring in the past or accidents where the time elapsed between exposure and analysis is unknown, the translocations scoring could be the method to use. This is because translocations retain the cell's reproductive potential so that they persist over time. For a long time the detection of translocations for dosimetric purposes was impractical as a routine method until situ fluorescent hybridization (FISH) techniques appeared. This method arising from molecular biology and applied to biological dosimetry has greatly simplified detection and although it is expensive, requiring special infrastructure, its availability is a sign of the state of development for these techniques in the region. The use of translocations scoring for biological dosimetry, as for the dicentric scoring, requires calibration curves for the different types of ionizing radiation. Therefore, the aim of this work was to prepare a dose-effect curve for Co-60 γ rays by chromosome translocations analysis. The study material was peripheral lymphocytes from a clinically healthy donor, irradiated and cultured in vitro and the detection of translocations in chromosomes 1, 2 and 4. The results showed a dose effect curve linear quadratic, accordingly with other authors

  5. Characterization of Common Chromosomal Translocations and Their Frequencies in Acute Myeloid Leukemia Patients of Northwest Iran

    OpenAIRE

    Elnaz Amanollahi Kamaneh; Karim Shams Asenjan; Aliakbar Movassaghpour Akbari; Parvin Akbarzadeh Laleh; Hadi Chavoshi; Jamal Eivazi Ziaei; Alireza Nikanfar; Iraj Asvadi Kermani; Ali Esfahani

    2016-01-01

    Objective: Detection of chromosomal translocations has an important role in diagnosis and treatment of hematological disorders. We aimed to evaluate the 46 new cases of de novo acute myeloid leukemia (AML) patients for common translocations and to assess the effect of geographic and ethnic differences on their frequencies. Materials and Methods: In this descriptive study, reverse transcriptase-polymerase chain reaction (RT-PCR) was used on 46 fresh bone marrow or peripheral blo...

  6. DNA ligase III promotes alternative nonhomologous end-joining during chromosomal translocation formation.

    Directory of Open Access Journals (Sweden)

    Deniz Simsek

    2011-06-01

    Full Text Available Nonhomologous end-joining (NHEJ is the primary DNA repair pathway thought to underlie chromosomal translocations and other genomic rearrangements in somatic cells. The canonical NHEJ pathway, including DNA ligase IV (Lig4, suppresses genomic instability and chromosomal translocations, leading to the notion that a poorly defined, alternative NHEJ (alt-NHEJ pathway generates these rearrangements. Here, we investigate the DNA ligase requirement of chromosomal translocation formation in mouse cells. Mammals have two other DNA ligases, Lig1 and Lig3, in addition to Lig4. As deletion of Lig3 results in cellular lethality due to its requirement in mitochondria, we used recently developed cell lines deficient in nuclear Lig3 but rescued for mitochondrial DNA ligase activity. Further, zinc finger endonucleases were used to generate DNA breaks at endogenous loci to induce translocations. Unlike with Lig4 deficiency, which causes an increase in translocation frequency, translocations are reduced in frequency in the absence of Lig3. Residual translocations in Lig3-deficient cells do not show a bias toward use of pre-existing microhomology at the breakpoint junctions, unlike either wild-type or Lig4-deficient cells, consistent with the notion that alt-NHEJ is impaired with Lig3 loss. By contrast, Lig1 depletion in otherwise wild-type cells does not reduce translocations or affect microhomology use. However, translocations are further reduced in Lig3-deficient cells upon Lig1 knockdown, suggesting the existence of two alt-NHEJ pathways, one that is biased toward microhomology use and requires Lig3 and a back-up pathway which does not depend on microhomology and utilizes Lig1.

  7. Persistence of radiation-induced translocations in rat peripheral blood determined by chromosome painting

    International Nuclear Information System (INIS)

    In this article, we address the issue of persistence of chromosome exchanges following acute in vitro exposure of rat peripheral blood to 137Cs. Irradiation occurred 24 hr after culture initiation, and metaphase chromosomes were prepared 2, 3, 4, and 5 days later. Chromosomes 1, 2, and 4 were painted in unique colors and scored for structural aberrations. Dicentric chromosomes an acentric fragments diminished rapidly with time, as expected. Translocations exhibited greater persistence, but still showed a reduction in frequency, reaching a plateau of approximately 65 and 55% of their initial values, 4 days after exposure to 1 and 2 Gy, respectively. An exponentially declining model was fit to the combined dicentric, acentric fragment, and translocation frequencies, which showed that all three aberration types declined at equivalent rates. The frequencies of dicentrics and fragments declined to a plateau of zero, while translocations reached a plateau at frequencies significantly greater than zero. The decline in translocations with time is inconsistent with prevailing theoretical expectations, but is consistent with a model where some translocations are fully stable (persistent) and some are unstable (not persistent) through cell division. These results may have implications for radiation biodosimetry in humans. have implications for radiation biodosimetry in humans

  8. Study of position effect as a mechanism arising from chromosomal translocations in leukaemia

    OpenAIRE

    Papucci, Chiara

    2015-01-01

    This thesis was submitted for the award of Master of Philosophy and was awarded by Brunel University London. The chromosomal translocation of t(14;18)(14q32;18q21) is a characteristic aberration of follicular lymphoma and Diffuse Large B cells lymphoma. By PCR, it was proved that the rearrangement of chromosomes 14 and 18 leads to an overexpression of BCL2, an anti-apoptotic protein, which is one of the factors responsible for the maturation of the diseases. The translocation involves the ...

  9. Complex Variant of Philadelphia Translocation Involving Chromosomes 9, 12, and 22 in a Case with Chronic Myeloid Leukaemia

    Directory of Open Access Journals (Sweden)

    F. Malvestiti

    2014-01-01

    Full Text Available Chronic myeloid leukemia (CML is a hematopoietic stem cell disorder included in the broader diagnostic category of myeloproliferative neoplasms, associated with fusion by BCR gene at chromosome 22q11 to ABL1 gene at chromosome 9q34 with the formation of the Philadelphia (Ph chromosome. In 2–10% of CML cases, the fusion gene arises in connection with a variant translocation, involving chromosomes 9, 22, and one or more different chromosomes; consequently, the Ph chromosome could be masked within a complex chromosome rearrangement. In cases with variant Ph translocation a deletion on der(9 may be more frequently observed than in cases with the classical one. Herein we describe a novel case of CML with complex variant Ph translocation involving chromosomes 9, 12, and 22. We present the hematologic response and cytogenetic response after Imatinib treatment. We also speculated the mechanism which had originated the chromosome rearrangement.

  10. Chromosomal Translocations in Black Flies (Diptera: Simuliidae)—Facilitators of Adaptive Radiation?

    Science.gov (United States)

    Adler, Peter H.; Yadamsuren, Oyunchuluun; Procunier, William S.

    2016-01-01

    A macrogenomic investigation of a Holarctic clade of black flies—the Simulium cholodkovskii lineage—provided a platform to explore the implications of a unique, synapomorphic whole-arm interchange in the evolution of black flies. Nearly 60 structural rearrangements were discovered in the polytene complement of the lineage, including 15 common to all 138 analyzed individuals, relative to the central sequence for the entire subgenus Simulium. Three species were represented, of which two Palearctic entities (Simulium cholodkovskii and S. decimatum) were sympatric; an absence of hybrids confirmed their reproductive isolation. A third (Nearctic) entity had nonhomologous sex chromosomes, relative to the other species, and is considered a separate species, for which the name Simulium nigricoxum is revalidated. A cytophylogeny is inferred and indicates that the two Palearctic taxa are sister species and these, in turn, are the sister group of the Nearctic species. The rise of the S. cholodkovskii lineage encompassed complex chromosomal and genomic restructuring phenomena associated with speciation in black flies, viz. expression of one and the same rearrangement as polymorphic, fixed, or sex linked in different species; taxon-specific differentiation of sex chromosomes; and reciprocal translocation of chromosome arms. The translocation is hypothesized to have occurred early in male spermatogonia, with the translocated chromosomal complement being transmitted to the X- and Y-bearing sperm during spermatogenesis, resulting in alternate disjunction of viable F1 translocation heterozygotes and the eventual formation of more viable and selectable F2 translocation homozygous progeny. Of 11 or 12 independently derived whole-arm interchanges known in the family Simuliidae, at least six are associated with subsequent speciation events, suggesting a facilitating role of translocations in adaptive radiations. The findings are discussed in the context of potential structural and

  11. Chromosomal Translocations in Black Flies (Diptera: Simuliidae-Facilitators of Adaptive Radiation?

    Directory of Open Access Journals (Sweden)

    Peter H Adler

    Full Text Available A macrogenomic investigation of a Holarctic clade of black flies-the Simulium cholodkovskii lineage-provided a platform to explore the implications of a unique, synapomorphic whole-arm interchange in the evolution of black flies. Nearly 60 structural rearrangements were discovered in the polytene complement of the lineage, including 15 common to all 138 analyzed individuals, relative to the central sequence for the entire subgenus Simulium. Three species were represented, of which two Palearctic entities (Simulium cholodkovskii and S. decimatum were sympatric; an absence of hybrids confirmed their reproductive isolation. A third (Nearctic entity had nonhomologous sex chromosomes, relative to the other species, and is considered a separate species, for which the name Simulium nigricoxum is revalidated. A cytophylogeny is inferred and indicates that the two Palearctic taxa are sister species and these, in turn, are the sister group of the Nearctic species. The rise of the S. cholodkovskii lineage encompassed complex chromosomal and genomic restructuring phenomena associated with speciation in black flies, viz. expression of one and the same rearrangement as polymorphic, fixed, or sex linked in different species; taxon-specific differentiation of sex chromosomes; and reciprocal translocation of chromosome arms. The translocation is hypothesized to have occurred early in male spermatogonia, with the translocated chromosomal complement being transmitted to the X- and Y-bearing sperm during spermatogenesis, resulting in alternate disjunction of viable F1 translocation heterozygotes and the eventual formation of more viable and selectable F2 translocation homozygous progeny. Of 11 or 12 independently derived whole-arm interchanges known in the family Simuliidae, at least six are associated with subsequent speciation events, suggesting a facilitating role of translocations in adaptive radiations. The findings are discussed in the context of potential

  12. Detergent disruption of bacterial inner membranes and recovery of protein translocation activity

    International Nuclear Information System (INIS)

    Isolation of the integral membrane components of protein translocation requires methods for fractionation and functional reconstitution. The authors treated inner-membrane vesicles of Escherichia coli with mixtures of octyl β-D-glucoside, phospholipids, and an integral membrane carrier protein under conditions that extract most of the membrane proteins into micellar solution. Upon dialysis, proteoliposomes were reconstituted that supported translocation of radiochemically pure [35S]pro-OmpA (the precursor of outer membrane protein A). Translocation into these proteoliposomes required ATP hydrolysis and membrane proteins, indicating that the reaction is that of the inner membrane. The suspension of membranes in detergent was separated into supernatant and pellet fractions by ultracentrifugation. After reconstitution, translocation activity was observed in both fractions, but processing by leader peptidase of translocated pro-OmpA to OmpA was not detectable in the reconstituted pellet fraction. Processing activity was restored by addition of pure leader peptidase as long as this enzyme was added before detergent removal, indicating that the translocation activity is not associated with detergent-resistant membrane vesicles. These results show that protein translocation activity can be recovered from detergent-disrupted membrane vesicles, providing a first step towards the goal of isolating the solubilized components

  13. Prenatal Diagnosis of Rare Familial Unbalanced Translocation of Chromosomes 7 and 12

    Directory of Open Access Journals (Sweden)

    Berrin Tezcan

    2015-01-01

    Full Text Available Case Details. We report rare familial unbalanced translocation of chromosomes 7 and 12, which was diagnosed prenatally at 20+3 weeks of gestation. Woman’s partner had been tested in the past and was found to be a carrier of a balanced translocation; his karyotype showed a balanced reciprocal translocation of 46, XY, t(7;12(q34;q24,32. Partner’s brother had an unbalanced form of the translocation with severe learning disability. The diagnosis of the anomaly was based on two- and three-dimensional ultrasound and microarray analysis. Ultrasonography findings included fetal microcephaly and alobar holoprosencephaly, dysmorphic face (flat occiput, absent nasal bone, microphthalmia, hypotelorism, and single nostril, and hyperechogenic bowel. Genome-wide array analysis and cytogenetic results from the amniotic fluid showed unbalanced translocation in chromosomes 7 and 12 with deletion of an approximately 16.5 Mb and a duplication of 6.1 Mb, respectively, Arr 7q34q36.3(142,668,576-159,161,648x1,12q24.32q24.33(127,708,720-133,777,560x3, karyotype (der (7 t(7;12 (q34;q24pat. This unbalanced translocation was due to the segregation of the father’s balanced translocation. In this particular case, the recurrence of an unbalanced translocation in the subsequent pregnancies is estimated to be 20%. Understanding the individuals’ phenotype in association with the gain and loss of copy number is important and can further provide us with information on that particular region of the named chromosomes.

  14. Prader-Willi syndrome - type 1 deletion, a consequence of an unbalanced translocation of chromosomes 13 and 15, easily to be mixed up with a Robertsonian translocation

    OpenAIRE

    Sheth, Frenny; Liehr, Thomas; Shah, Krati; Sheth, Jayesh

    2015-01-01

    Background Prader-Willi syndrome, due to microdeletion of proximal 15q, is a well-known cause of syndromic obesity. Case characteristics A couple with history of repeated first trimester abortions had a son with balanced Robertsonian translocation of chromosomes 13 and 15 according to cytogenetic banding technique. Results Chromosomal analysis for the couple was performed. A balanced translocation involving BP1-BP3 region of proximal 15q was observed in the father. Discussion Investigations o...

  15. An essential role for CtIP in chromosomal translocation formation through an alternative end-joining pathway

    OpenAIRE

    Zhang, Yu; Jasin, Maria

    2010-01-01

    Chromosomal translocations arise from the misjoining of DNA breaks, but the identity of the DNA repair factors and activities involved in their formation has been elusive. Here we show that depletion of CtIP, a DNA end-resection factor, results in a substantial decrease in chromosomal translocation frequency in mouse cells. Moreover, microhomology usage, a signature of the alternative nonhomologous end-joining pathway (alt-NHEJ), is significantly lower in translocation breakpoint junctions re...

  16. Molecular characterization of a recurring complex chromosomal translocation in two human extragonadal germ cell tumors.

    NARCIS (Netherlands)

    Sinke, R J; Weghuis, D O; Suijkerbuijk, R F; Tanigami, A; Nakamura, Y; Larsson, C; Weber, G; Jong, B de; Oosterhuis, J W; Molenaar, W M

    1994-01-01

    The molecular characterization of a recurring complex chromosomal translocation involving 6p21, 6p22, 6q23, and 11q13 in two independent but similar extragonadal human germ cell tumors was initiated using fluorescence in situ hybridization (FISH) and pulse field gel electrophoresis (PFGE) techniques

  17. MOLECULAR CHARACTERIZATION OF A RECURRING COMPLEX CHROMOSOMAL TRANSLOCATION IN 2 HUMAN EXTRAGONADAL GERM-CELL TUMORS

    NARCIS (Netherlands)

    SINKE, RJ; WEGHUIS, DO; SUIJKERBUIJK, RF; TANIGAMI, A; NAKAMURA, Y; LARSSON, C; WEBER, G; DEJONG, B; OOSTERHUIS, JW; MOLENAAR, WM; VANKESSEL, AG

    1994-01-01

    The molecular characterization of a recurring complex chromosomal translocation involving 6p21, 6p22, 6p23, and 11q13 in two independent bur similar extragonadal human germ cell rumors was initiated using fluorescence in situ hybridization (FISH) and pulse field gel electrophoresis (PFGE) techniques

  18. Characterization of partial trisomy 9p due to insertional translocation by chromosomal (micro)FISH

    NARCIS (Netherlands)

    de Pater, JM; Ippel, PF; van Dam, WM; Loneus, WH; Engelen, JJM

    2002-01-01

    We describe a family with an insertion 12;9 translocation occurring in a balanced form in a mother and two sons, but in an unbalanced form in the proband, resulting in trisomy of chromosome region 9p22-->9p24. The proband manifests typical features of trisomy 9p; the clinical signs were mental and g

  19. Breeding few-seed/seedless watermelon via chromosome reciprocal translocation induced by gamma-ray

    International Nuclear Information System (INIS)

    The development of autotriploid watermelon was a great advance in the field of watermelon breeding. However, some disadvantages still existed with this type of seedless watermelon. Partial sterility may be induced in diploid watermelon via chromosome reciprocal translocation. We used gamma-rays to irradiate the seeds of homozygous translocation strains with one translocation ring composed of 4 chromosomes (symbol (4) ). Watermelon strains were 'Asahi Yamato', 'Mioyaka', and 'Fumin' saent to us by H. Kihara in 1977. In order to further induce multiple reciprocal translocations for developing new few-seed/seedless watermelon strains, the seeds of the above 3 strains were sown for further selfing in 1978. The seeds of each selfed fruit were grown as a single plant line in 1979 for evaluation of their characters. In addition, some crosses between common diploid watermelon cultivars and translocations were carried out to test the seed setting rate of the heterozygous translocation strains. Some of the crosses were 'Sugar Baby' x 'Asahi Yamato AT-1' and 'Akakotama' x Asahi Yamato AT-2'. The plump seed setting rate of the F1 of these crosses were ca. 50%

  20. Amplification of chromosomal translocation junctions from paraffin-embedded tissues of follicular lymphoma patients

    International Nuclear Information System (INIS)

    Follicular lymphoma is associated with the t(14;18) translocation, which is one of the most common chromosomal translocations in cancer. Generally, tissues from such patients are preserved as formalin-fixed and paraffin-embedded samples. Most of the time, retrieving the molecular information from such samples is hampered due to quality of preservation, extraction procedures and reaction conditions. In the present study, we isolate the chromosomal DNA from the paraffin-embedded nodal tissues of lymphoma patients and use a highly sensitive nested PCR approach to detect t(14;18) translocation. Our studies show that despite the sheared DNA obtained, appropriate modification of PCR reaction conditions can help in obtaining the desired amplifications. The DNA extraction protocol from paraffin-embedded nodal tissues and modifications in the PCR conditions are discussed. This study would contribute to the successful use of archival tissue samples in obtaining valuable information for cancer research

  1. A model of oncogenic rearrangements: differences between chromosomal translocation mechanisms and simple double-strand break repair

    OpenAIRE

    Weinstock, David M.; Elliott, Beth; Jasin, Maria

    2006-01-01

    Recurrent reciprocal translocations are present in many hematologic and mesenchymal malignancies. Because significant sequence homology is absent from translocation breakpoint junctions, non-homologous end-joining (NHEJ) pathways of DNA repair are presumed to catalyze their formation. We developed translocation reporters for use in mammalian cells from which NHEJ events can be selected after precise chromosomal breakage. Translocations were efficiently recovered with these reporters using mou...

  2. Chromosome territories, X;Y translocation and Premature Ovarian Failure: is there a relationship?

    Directory of Open Access Journals (Sweden)

    Betri Enrico

    2009-09-01

    Full Text Available Abstract Background Premature ovarian failure (POF is a secondary hypergonadotrophic amenorrhea occurring before the age of 40 and affecting 1-3% of females. Chromosome anomalies account for 6-8% of POF cases, but only few cases are associated with translocations involving X and Y chromosomes. This study shows the cytogenetic and molecular analysis of a POF patient came to our attention as she developed a left ovary choriocarcinoma at the age of 10 and at 14 years of age she presented secondary amenorrhea with elevated levels of gonadotropins. Results Breakpoint position on X and Y chromosomes was investigated using Fluorescent In Situ Hybridisation (FISH with a panel of specific BAC probes, microsatellite analysis and evaluation of copy number changes and loss of heterozigosity by Affymetrix® GeneChip platform (Santa Clara, CA, USA. Patient's karyotype resulted 46, X, der(Yt(X;Y(q13.1;q11.223. X inactivation study was assessed by RBA banding and showed preferential inactivation of derivative chromosome. The reciprocal spatial disposition of sexual chromosome territories was investigated using whole chromosome painting and centromeres probes: patient's results didn't show a significant difference in comparison to normal controls. Conclusion The peculiar clinical case come to our attention highlighted the complexity of POF aetiology and of the translocation event, even if our results seem to exclude any effect on nuclear organisation. POF phenotype could be partially explained by skewed X chromosome inactivation that influences gene expression.

  3. Molecular cytogenetics: A novel approach for measuring chromosome translocations in individuals years after exposure to low levels of ionizing radiation

    International Nuclear Information System (INIS)

    Chromosome painting was developed in our laboratory to facilitate rapid and accurate detection of chromosome translocations in human cells. Chromosome painting is the selective staining of one or more chromosomes by fluorescence in situ hybridization (FISH) using whole chromosome probes. This method permits essentially uniform hybridization and staining along the entire lengths of targeted chromosomes. Staining all other chromosomes a different color makes interchromosomal exchange aberrations readily apparent as bicolored chromosomes. Here we present a brief discussion of this methodology and recent results from studies in our laboratory

  4. Development of a biological dosimeter for translocation scoring based on two-color fluorescence in situ hybridization of chromosome subsets

    International Nuclear Information System (INIS)

    Recently fluorescence in situ hybridization protocols have been developed which allow the paining of individual chromosomes using DNA-libraries from sorted human chromosomes. This approach has the particular advantage that radiation induced chromosome translocations can be easily detected, if chromosomes of distinctly different colors take part in the translocation event. To enhance the sensitivity of this approach two metaphase chromosome subsets A and B (A: chromosome 1, 2, 4, 8, 16; B: 3, 5, 9, 10, 13) were simultaneously painted in green and red color. Counterstaining of the chromosomes with DAPI resulted in a third subset which exhibited blue fluorescence only. Green-red, green-blue and red-blue translocation chromosomes could be easily detected after irradiation of lymphocyte cultures with 137Cs-γ-rays. Analyses of painted chromosomes can be combined with conventional GTG-banding analyses. This new biological dosimeter should become useful to monitor both long term effects of single irradiation events and the cumulative effects of multiple or chronic irradiation exposure. In contrast to translocation scoring based on the analysis of banded chromosomes, this new approach has the particular advantage that a rapid, automated scoring of translocations can now be envisaged. (author)

  5. Chromosome 4q;10q translocations; Comparison with different ethnic populations and FSHD patients

    Directory of Open Access Journals (Sweden)

    Zhang Cheng

    2002-08-01

    Full Text Available Abstract Background Facioscapulohumeral muscular dystrophy (FSHD is an autosomal dominant disorder characterized by the weakness of facial, shoulder-girdle and upper arm muscles. Most patients with FSHD have fewer numbers of tandem repeated 3.3-kb KpnI units on chromosome 4q35. Chromosome 10q26 contains highly homologous KpnI repeats, and inter-chromosomal translocation has been reported. Methods To clarify the influence on the deletion of the repeats, we surveyed three different ethnic populations and FSHD patients using the BglII/BlnI dosage test. Results The frequency of translocation in 153 Japanese, 124 Korean, 114 Chinese healthy individuals and 56 Japanese 4q35-FSHD patients were 27.5%, 29.8%, 19.3%, and 32.1%, respectively. The ratio of '4 on 10' (trisomy and quatrosomy of chromosome 4 was higher than that of '10 on 4' (nullsomy and monosomy of chromosome 4 in all populations. Conclusions The inter-chromosomal exchange was frequently observed in all four populations we examined, and no significant difference was observed between healthy and diseased groups.

  6. DETECTION OF t(14; 18) CHROMOSOMAL TRANSLOCATION IN PARAFFIN-EMBEDDED HEPATOCELLULAR CARCINOMA TISSUE BY IN SITU PCR

    Institute of Scientific and Technical Information of China (English)

    GUO Lin-lang; XIAO Sha; GUO Ying

    1999-01-01

    Objective: To understand the relationship between (14; 18) chromosomal translocation and hepatocellular carcinoma. Methods: Semi-nested in situ PCR (SNISPCR) technique was used to detected bcl-2/JH fusion gene in 40 cases of hepatocellular carcinoma (HCC). Results: Bcl-2/JH fusion gene was detected in 10 of 40 HCC. There were no significant differences in bcl-2/JH fusion formation between histopathological grades and metastases (P>0.05). Conclusion: By detecting bcl-2 fusion gene in HCC, we think that t(14;18) chromosomal translocation is not a specific change in lymphoma, t(14; 18) chromosomal translocation may not an important cause in pathologensis of HCC.

  7. Familial transmission of a deletion of chromosome 21 derived from a translocation between chromosome 21 and an inverted chromosome 22.

    Science.gov (United States)

    Aviv, H; Lieber, C; Yenamandra, A; Desposito, F

    1997-06-27

    Chromosome analysis of a newborn boy with Down syndrome resulted in the identification of a family with an unusual derivative chromosome 22. The child has 46 chromosomes, including two chromosomes 21, one normal chromosome 22, and a derivative chromosome 22. Giemsa banding and fluorescent in situ hybridization (FISH) studies show that the derivative chromosome is chromosome 22 with evidence of both paracentric and pericentric inversions, joined to the long arm of chromosome 21 from 21q21.2 to qter. The rearrangement results in partial trisomy 21 extending from 21q21.2 to 21q terminus in the patient. The child's mother, brother, maternal aunt, and maternal grandmother are all carriers of the derivative chromosome. All have 45 chromosomes, with one normal chromosome 21, one normal chromosome 22, and the derivative chromosome 22. The rearrangement results in the absence of the short arm, the centromere, and the proximal long arm of chromosome 21 (del 21pter-21q21.2) in carriers. Carriers of the derivative chromosome in this family have normal physical appearance, mild learning disabilities and poor social adjustment. PMID:9182781

  8. Birth of a child with Down syndrome in a family transmitting an unusual chromosome 22 arising from a translocation between chromosomes 21 and an inverted chromosome 22

    Energy Technology Data Exchange (ETDEWEB)

    Aviv, H.A.; Desposito, F. [UMDNJ-NJ Medical School, Newark, NJ (United States); Lieber, C. [Hackensack Medical Center, NJ (United States)

    1994-09-01

    Chromosomal analysis of a child with Down syndrome resulted in the identification of a family with an unusual translocation and in the definition of the translocation breakpoints. Studies were performed on the child, his siblings, mother, mother`s sister, and grandmother. All of the family members were carriers of the translocation. We performed G-banding, silver stain, C-banding, and hybridization with the following FISH probes (Oncor): {alpha}-satellite 13/21; {beta}-satellite, coatasome 21 and 22, and the probes for chromosome 22 at 22q11 (DiGeorge region) and 22q13.3 (control region). Using the banding techniques and probes, we characterized the karyotype as: 45,XX,-21,-22,+der(22),t(21;22)(22qter{r_arrow}22q11.2::22p13{r_arrow}22q11.2::21q11.2{r_arrow}21qter). The effect of deletion of 21q11.2 and the break of chromosome 22 in the DiGeorge region in this family is not clear. However, the presence of the translocation increases the risk of family members of conceiving children with Down syndrome.

  9. Novel balanced chromosomal translocations in females with recurrent spontaneous abortions: Two case studies

    Directory of Open Access Journals (Sweden)

    Puspal De

    2015-01-01

    Full Text Available Two couples with a history of recurrent pregnancy losses were referred to the Institute of Genetic Medicine and Genomic Science for cytogenetic evaluation. Chromosomal analysis of the phenotypically normal couples was done to investigate whether there are any new chromosomal abnormalities present in either of the couples caused recurrent pregnancy losses. Clinical and hormonal profile of the couples revealed normal parameters. The ultrasound scan of the females showed normal uterine and ovarian structures. Chromosomal analysis of the couples revealed normal 46, XY karyotypes in the both the male partners, and novel balanced reciprocal translocations 46, XX, t (5;8 (q35.3;q24.23 and 46, XX, t (4;13 (q12;q14 chromosomal constitutions in the female partners. Further, corroboration of the chromosome abnormalities was carried out by high resolution banding analysis. Unique and novel balanced reciprocal translocations were reported as an original investigation in two female partners from two different unrelated families both with the history of recurrent pregnancy losses.

  10. Identifying Gene Disruptions in Novel Balanced de novo Constitutional Translocations in Childhood Cancer Patients by Whole Genome Sequencing

    OpenAIRE

    Ritter, Deborah I.; Haines, Katherine; Cheung, Hannah; Davis, Caleb F.; Lau, Ching C.; Berg, Jonathan S.; Brown, Chester W.; Thompson, Patrick A.; Gibbs, Richard; Wheeler, David A.; Plon, Sharon E.

    2015-01-01

    Purpose We applied whole genome sequencing to children diagnosed with neoplasms and found to carry apparently balanced constitutional translocations, to discover novel genic disruptions. Methods We applied SV calling programs CREST, Break Dancer, SV-STAT and CGAP-CNV, and developed an annotative filtering strategy to achieve nucleotide resolution at the translocations. Results We identified the breakpoints for t(6;12) (p21.1;q24.31) disrupting HNF1A in a patient diagnosed with hepatic adenoma...

  11. Chromosome translocations measured by fluorescence in-situ hybridization: A promising biomarker

    International Nuclear Information System (INIS)

    A biomarker for exposure and risk assessment would be most useful if it employs an endpoint that is highly quantitative, is stable with time, and is relevant to human risk. Recent advances in chromosome staining using fluorescence in situ hybridization (FISH) facilitate fast and reliable measurement of reciprocal translocations, a kind of DNA damage linked to both prior exposure and risk. In contrast to other biomarkers available, the frequency of reciprocal translocations in individuals exposed to whole-body radiation is stable with time post exposure, has a rather small inter-individual variability, and can be measured accurately at the low levels. Here, the authors discuss results from their studies demonstrating that chromosome painting can be used to reconstruct radiation dose for workers exposed within the dose limits, for individuals exposed a long time ago, and even for those who have been diagnosed with leukemia but not yet undergone therapy

  12. Comparison of BAC FISH with specific telomeres and centromere probes and chromosome painting on detection of chromosome translocation induced by irradiation

    International Nuclear Information System (INIS)

    Objective: To compare the efficiency of BAC FISH established in our lab and conventional chromosome painting (PAINT) on detection of radiation-induced chromosome translocation. Methods: Healthy human peripheral blood samples were irradiated with 0-5.0 Gy 60Co γ-rays. Then chromosome translocations in these samples were detected with BAC FISH and PAINT using chromosomes 1, 2 and 4. The genome translocation rates were calculated with observed chromosome translocation rates, and the dose-response curve of two methods were established. Results: The genome translocation rates induced by 0-5.0 Gy 60Co γ-rays detected by BAC FISH and PAINT were increased with absorbed doses. The observed translocation rates with BAC FISH were higher than that with PAINT at each dose level. The dose-response curve were Y=0.043D2 + 0.0008 D + 0.0048 for BAC FISH and Y=0.043 D2 + 0.006 D + 0.0027 for PAINT. Conclusions: The translocation rate detected by BAC FISH was higher than that by PAINT, and the parameters β in dose-response curve equation were same by two methods. (authors)

  13. A De Novo Case of Floating Chromosomal Polymorphisms by Translocation in Quasipaa boulengeri (Anura, Dicroglossidae)

    OpenAIRE

    Liyan Qing; Yun Xia; Yuchi Zheng; Xiaomao Zeng

    2012-01-01

    Very few natural polymorphisms involving interchromosomal reciprocal translocations are known in amphibians even in vertebrates. In this study, thirty three populations, including 471 individuals of the spiny frog Quasipaa boulengeri, were karyotypically examined using Giemsa stain or FISH. Five different karyomorphs were observed. The observed heteromorphism was autosomal but not sex-related, as the same heteromorphic chromosomes were found both in males and females. Our results indicated th...

  14. Nuclear positioning, higher-order folding, and gene expression of Mmu15 sequences are refractory to chromosomal translocation

    OpenAIRE

    Snow, Kathy J.; Wright, Sarah M.; Woo, Yong; Titus, Laura C.; Mills, Kevin D.; Shopland, Lindsay S.

    2010-01-01

    Nuclear localization influences the expression of certain genes. Chromosomal rearrangements can reposition genes in the nucleus and thus could impact the expression of genes far from chromosomal breakpoints. However, the extent to which chromosomal rearrangements influence nuclear organization and gene expression is poorly understood. We examined mouse progenitor B cell lymphomas with a common translocation, der(12)t(12;15), which fuses a gene-rich region of mouse chromosome12 (Mmu12) with a ...

  15. Nonhomologous DNA end joining (NHEJ) and chromosomal translocations in humans.

    Science.gov (United States)

    Lieber, Michael R; Gu, Jiafeng; Lu, Haihui; Shimazaki, Noriko; Tsai, Albert G

    2010-01-01

    Double-strand breaks (DSBs) arise in dividing cells about ten times per cell per day. Causes include replication across a nick, free radicals of oxidative metabolism, ionizing radiation, and inadvertent action by enzymes of DNA metabolism (such as failures of type II topoisomerases or cleavage by recombinases at off-target sites). There are two major double-strand break repair pathways. Homologous recombination (HR) can repair double-strand breaks, but only during S phase and typically only if there are hundreds of base pairs of homology. The more commonly used pathway is nonhomologous DNA end joining, abbreviated NHEJ. NHEJ can repair a DSB at any time during the cell cycle and does not require any homology, although a few nucleotides of terminal microhomology are often utilized by the NHEJ enzymes, if present. The proteins and enzymes of NHEJ include Ku, DNA-PKcs, Artemis, DNA polymerase mu (Pol micro), DNA polymerase lambda (Pol lambda), XLF (also called Cernunnos), XRCC4, and DNA ligase IV. These enzymes constitute what some call the classical NHEJ pathway, and in wild type cells, the vast majority of joining events appear to proceed using these components. NHEJ is present in many prokaryotes, as well as all eukaryotes, and very similar mechanistic flexibility evolved both convergently and divergently. When two double-strand breaks occur on different chromosomes, then the rejoining is almost always done by NHEJ. The causes of DSBs in lymphomas most often involve the RAG or AID enzymes that function in the specialized processes of antigen receptor gene rearrangement. PMID:20012587

  16. Inverted duplication of JH associated with chromosome 14 translocation and T-cell leukemia in ataxia-telangiectasia.

    OpenAIRE

    Johnson, J P; Gatti, R A; Sears, T S; White, R. L.

    1986-01-01

    A specific 14q32 breakpoint is observed in a homologous chromosome 14 translocation [t(14;14)q12q32] occurring in the T-cells of about 10% of patients with ataxia-telangiectasia (AT). To investigate whether the 14q32 breakpoint in AT occurs within the immunoglobulin gene cluster as is frequently detected in B-cell lymphoma, immunoglobulin clones were hybridized to Southern blots of DNA isolated from the T-cells of two AT patients with this chromosome 14 translocation. The 14q32 translocation ...

  17. Inducible chromosomal translocation of AML1 and ETO genes through Cre/loxP-mediated recombination in the mouse

    OpenAIRE

    Buchholz, Frank; Refaeli, Yosef; Trumpp, Andreas; Bishop, J. Michael

    2000-01-01

    Transgenic mice have been used to explore the role of chromosomal translocations in the genesis of tumors. But none of these efforts has actually involved induction of a translocation in vivo. Here we report the use of Cre recombinase to replicate in vivo the t(8;21) translocation found in human acute myeloid leukemia (AML). As in the human tumors, the murine translocation fuses the genes AML1 and ETO. We used homologous recombination to place loxP sites at loci that were syntenic with the br...

  18. Disease dynamics during wildlife translocations: disruptions to the host population and potential consequences for transmission in desert tortoise contact networks

    Science.gov (United States)

    Aiello, Christina M.; Nussear, Kenneth E.; Walde, Andrew D.; Esque, Todd C.; Emblidge, Patrick G.; Sah, Pratha; Bansal, S.; Hudson, Peter J.

    2014-01-01

    Wildlife managers consider animal translocation a means of increasing the viability of a local population. However, augmentation may disrupt existing resident disease dynamics and initiate an outbreak that would effectively offset any advantages the translocation may have achieved. This paper examines fundamental concepts of disease ecology and identifies the conditions that will increase the likelihood of a disease outbreak following translocation. We highlight the importance of susceptibility to infection, population size and population connectivity – a characteristic likely affected by translocation but not often considered in risk assessments – in estimating outbreak risk due to translocation. We then explore these features in a species of conservation concern often translocated in the presence of infectious disease, the Mojave Desert tortoise, and use data from experimental tortoise translocations to detect changes in population connectivity that may influence pathogen transmission. Preliminary analyses comparing contact networks inferred from spatial data at control and translocation plots and infection simulation results through these networks suggest increased outbreak risk following translocation due to dispersal-driven changes in contact frequency and network structure. We outline future research goals to test these concepts and aid managers in designing effective risk assessment and intervention strategies that will improve translocation success.

  19. The mechanism of chromosomal translocation t(11;14) involving the T-cell receptor C delta locus on human chromosome 14q11 and a transcribed region of chromosome 11p15.

    OpenAIRE

    Boehm, T.; Baer, R; Lavenir, I; Forster, A; Waters, J J; Nacheva, E; Rabbitts, T H

    1988-01-01

    A chromosomal translocation t(11;14) (p15;q11) is described in a human acute T-cell leukaemia of immature phenotype (CD3-, CD4-, CD8-). The translocation occurs at a T-cell receptor joining J delta segment, 12 kb upstream of the constant C delta gene and 98 kb upstream of the C alpha gene at chromosome band 14q11. Nucleotide sequencing shows that both J delta and C delta are very conserved between mouse and man. The region of chromosome 11 involved in the translocation is transcriptionally ac...

  20. Analysis of the V(D)J recombination efficiency at lymphoid chromosomal translocation breakpoints.

    Science.gov (United States)

    Raghavan, S C; Kirsch, I R; Lieber, M R

    2001-08-01

    Chromosomal translocations and deletions are among the major events that initiate neoplasia. For lymphoid chromosomal translocations, misrecognition by the RAG (recombination activating gene) complex of V(D)J recombination is one contributing factor that has long been proposed. The chromosomal translocations involving LMO2 (t(11;14)(p13;q11)), Ttg-1 (t(11;14)(p15;q11)), and Hox11 (t(10;14)(q24;q11)) are among the clearest examples in which it appears that a D or J segment has synapsed with an adventitious heptamer/nonamer at a gene outside of one of the antigen receptor loci. The interstitial deletion at 1p32 involving SIL (SCL-interrupting locus)/SCL (stem cell leukemia) is a case involving two non-V(D)J sites that have been suggested to be V(D)J recombination mistakes. Here we have used our human extrachromosomal substrate assay to formally test the hypothesis that these regions are V(D)J recombination misrecognition sites and, more importantly, to quantify their efficiency as V(D)J recombination targets within the cell. We find that the LMO2 fragile site functions as a 12-signal at an efficiency that is only 27-fold lower than that of a consensus 12-signal. The Ttg-1 site functions as a 23-signal at an efficiency 530-fold lower than that of a consensus 23-signal. Hox11 failed to undergo recombination as a 12- or 23-signal and was at least 20,000-fold less efficient than consensus signals. SIL has been predicted to function as a 12-signal and SCL as a 23-signal. However, we find that SIL actually functions as a 23-signal. These results provide a formal demonstration that certain chromosomal fragile sites can serve as RAG complex targets, and they determine whether these sites function as 12- versus 23-signals. These results quantify one of the three major factors that determine the frequency of these translocations in T-cell acute lymphocytic leukemia. PMID:11390401

  1. Explanation of method of dose estimation using chromosome translocation with fluorescence in situ hybridization

    International Nuclear Information System (INIS)

    National occupational health standard-Method of Dose Estimation Using Chromosome Translocation with Fluorescence in Situ Hybridization has been developed, which based on comprehensive collection, reading and analysis of relevant literature both abroad and domestic and the existing diagnostic criteria for radiation diseases of the China, and the repeated experimental verification. This standard is mainly applied for dose estimation for individuals who previously exposed to irradiation by accident, and provide the scientific diagnosis of radiation sickness. To better understand and implement it, the contents of this standard were interpreted in this article. (authors)

  2. Characterization of Common Chromosomal Translocations and Their Frequencies in Acute Myeloid Leukemia Patients of Northwest Iran

    Directory of Open Access Journals (Sweden)

    Elnaz Amanollahi Kamaneh

    2016-04-01

    Full Text Available Objective: Detection of chromosomal translocations has an important role in diagnosis and treatment of hematological disorders. We aimed to evaluate the 46 new cases of de novo acute myeloid leukemia (AML patients for common translocations and to assess the effect of geographic and ethnic differences on their frequencies. Materials and Methods: In this descriptive study, reverse transcriptase-polymerase chain reaction (RT-PCR was used on 46 fresh bone marrow or peripheral blood samples to detect translocations t (8; 21, t (15; 17, t (9; 11 and inv (16. Patients were classified using the French-American-British (FAB criteria in to eight sub-groups (M0-M7. Immunophenotyping and biochemical test results of patients were compared with RT-PCR results. Results: Our patients were relatively young with a mean age of 44 years. AML was relatively predominant in female patients (54.3% and most of patients belonged to AML-M2. Translocation t (8; 21 had the highest frequency (13% and t (15; 17 with 2.7% incidence was the second most frequent. CD19 as an immunophenotypic marker was at a relatively high frequency (50% in cases with t (8; 21, and patients with this translocation had a specific immunophenotypic pattern of complete expression of CD45, CD38, CD34, CD33 and HLA-DR. Conclusion: Similarities and differences of results in Iran with different parts of the world can be explained with ethnic and geographic factors in characterizations of AML. Recognition of these factors especially in other comprehensive studies may aid better diagnosis and management of this disease.

  3. Down syndrome consequent to a cryptic maternal 12p;21q chromosome translocation

    Energy Technology Data Exchange (ETDEWEB)

    Scott, J.A.; Wenger, S.L.; Chakravarti, A. [Univ. of Pittsburgh, PA (United States)] [and others

    1995-03-13

    A 9-year-old, mildly mentally retarded girl presented with phenotypic manifestations of Down syndrome. G-banded chromosomal analyses of peripheral blood lymphocytes from the patient and her parents, and skin fibroblasts from the patient, did not detect any abnormality. Molecular analysis of 15 highly polymorphic chromosome 21 dinucleotide repeat markers demonstrated a partial duplication of the Down syndrome critical region (D21S55, subband 21q22.2) of maternal origin in the patient. The segmental trisomy was confirmed by FISH analysis using the cosmid probe D21S55. Further analysis demonstrated that the trisomy was due to segregation of an apparently balanced cryptic translocation from the mother. The patient`s karyotype is 46,XX,-12,tder(12)t(12;21)(p13.1;q22.2)mat. 21 refs., 3 figs., 1 tab.

  4. Skeletal overgrowth syndrome caused by overexpression of C-type natriuretic peptide in a girl with balanced chromosomal translocation, t(1;2)(q41;q37.1).

    Science.gov (United States)

    Ko, Jung Min; Bae, Jun-Seok; Choi, Jin Sun; Miura, Kohji; Lee, Hye Ran; Kim, Ok-Hwa; Kim, Nayoung K D; Oh, Sun Kyung; Ozono, Keiichi; Lee, Choon-Ki; Choi, In Ho; Park, Woong-Yang; Cho, Tae-Joon

    2015-05-01

    Chromosomal translocation of 2q37.1 just distal to the NPPC gene coding for C-type natriuretic peptide (CNP) and subsequent overproduction of CNP have been reported to cause a skeletal overgrowth syndrome. Loeys-Dietz syndrome (LDS) is one of marfanoid overgrowth syndromes, of which subtype IV is caused by haploinsufficiency of transforming growth factor beta 2 (TGFB2). We report on a girl with clinical phenotypes of overgrowth syndrome, including long and slim body habitus, macrodactyly of the big toe, scoliosis, ankle valgus deformity, coxa valga, slipped capital femoral epiphysis, and aortic root dilatation. Karyotyping revealed a balanced chromosomal translocation between 1q41 and 2q37.1, and the breakpoints could be mapped by targeted resequencing analysis. On chromosome 2q37.1, the translocation took place 200,365 bp downstream of NPPC, and serum level of the amino terminal of CNP was elevated. The contralateral site of translocation on chromosome 1q41 disrupted TGFB2 gene, presumed to cause its haploinsufficiency. This case supports the concept that NPPC is overexpressed because of the loss of a specific negative regulatory control in the normal chromosomal location, and demonstrates the effectiveness of targeted resequencing in the mapping of breakpoints. PMID:25728306

  5. Impact of personal and environmental factors on the rate of chromosome aberrations named translocations - Part 1: age, gender, smoking, alcohol

    International Nuclear Information System (INIS)

    The assessment of exposure to ionizing radiation, carried out long time after exposure, is currently performed by scoring of translocations, a specific type of chromosomal aberrations. The translocations rate observed in peripheral blood lymphocytes of exposed subjects is compared to that observed in a control population. However, the translocation specificity towards radiation exposure is not clearly identified. To avoid any hasty conclusion, it is necessary to identify all the factors likely to induce translocation. To our knowledge, no study has thus far examined the effects of all these different factors on translocation rates. A review of the literature thus allowed us to assess the impact of host factors and lifestyle on the production of translocations. This study confirms that age appears to be the factor having the greatest impact on the rate of translocations, especially over 60 years. To date, the factor 'age' is already considered in estimating the impact of radiation on the rate of translocation for all age groups. However, the study also shows that this rate varies significantly when the patient is exposed simultaneously and significantly towards many lifestyle agents. A precise threshold translocation rate should thus be established as a function of known behavioral exposures, below which it is impossible to conclude that radiological exposure has occurred. The effects of chemicals on the translocation rate after occupational exposure will be the subject of a second part. (authors)

  6. Asplenia syndrome in a child with a balanced reciprocal translocation of chromosomes 11 and 20 [46,XX,t(11;20)(q13.1;q13.13)

    Energy Technology Data Exchange (ETDEWEB)

    Freeman, S.B.; May, K.M.; Blackston, R.D.; Muralidharan, K. [Emory Univ., Atlanta, GA (United States)] [and others

    1996-02-02

    We present a 6-year-old girl with a balanced 11;20 translocation [46,XX,t(11;20)(q13.1;q13.13)pat], asplenia, pulmonic stenosis, Hirschsprung disease, minor anomalies, and mental retardation. This case represents the second report of an individual with situs abnormalities and a balanced chromosome rearrangement involving a breakpoint at 11q13. Segregation analysis of markers in the 11q13 region in the proposita and her phenotypically normal carrier sibs did not show a unique combination of maternal and paternal alleles in the patient. We discuss several possible explanations for the simultaneous occurrence of situs abnormalities and a balanced 11;20 translocation. These include (1) chance, (2) a further chromosome rearrangement in the patient, (3) gene disruption and random situs determination, and (4) gene disruption plus transmission of a recessive or imprinted allele from the mother. 30 refs., 1 fig., 2 tabs.

  7. BCL2 protein expression in follicular lymphomas with t(14;18) chromosomal translocations.

    Science.gov (United States)

    Masir, Noraidah; Campbell, Lisa J; Goff, Lindsey K; Jones, Margaret; Marafioti, Teresa; Cordell, Jacqueline; Clear, Andrew J; Lister, T Andrew; Mason, David Y; Lee, Abigail M

    2009-03-01

    The t(14;18)(q32;q21) chromosomal translocation induces BCL2 protein overexpression in most follicular lymphomas. However the expression of BCL2 is not always homogeneous and may demonstrate a variable degree of heterogeneity. This study analysed BCL2 protein expression pattern in 33 cases of t(14;18)-positive follicular lymphomas using antibodies against two different epitopes (i.e. the widely used antibody BCL2/124 and an alternative antibody E17). 16/33 (49%) cases demonstrated strong BCL2 expression. In 10/33 (30%) cases, BCL2 expression was heterogeneous and in some of these, its loss appeared to be correlated with cell proliferation, as indicated by Ki67 expression. Double immunofluorescence labelling confirmed an inverse BCL2/Ki67 relationship, where in 24/28 (86%) cases cellular expression of BCL2 and Ki67 was mutually exclusive. In addition, seven BCL2 'pseudo-negative' cases were identified in which immunostaining was negative with antibody BCL2/124, but positive with antibody E17. Genomic DNA sequencing of these 'pseudo-negative' cases demonstrated eleven mutations in four cases and nine of these were missense mutations. It can be concluded that in follicular lymphomas, despite carrying the t(14;18) translocations, BCL2 protein expression may be heterogeneous and loss of BCL2 could be related to cell proliferation. Secondly, mutations in translocated BCL2 genes appear to be common and may cause BCL2 pseudo-negative immunostaining. PMID:19120369

  8. The chromosome 14 breakpoint in neoplastic B cells with the t(11;14) translocation involves the immunoglobulin heavy chain locus.

    OpenAIRE

    Erikson, J; Finan, J; Tsujimoto, Y; Nowell, P C; Croce, C M

    1984-01-01

    We hybridized neoplastic cells from a patient with chromic lymphocytic leukemia of the B-cell type, which carried a reciprocal chromosomal translocation between chromosomes 11 (q13) and 14 (q32) with mouse plasmacytoma cells. The hybrid cells were studied for the presence, rearrangement, and expression of the human immunoglobulin mu chain locus. The results indicate that the expressed mu chain gene is located on the normal chromosome 14, whereas the 14q+ translocation chromosome carries the e...

  9. Transfer of Hessian fly resistance from rye to wheat via radiation-induced terminal and intercalary chromosomal translocations

    International Nuclear Information System (INIS)

    A new Hessian fly (Mayetiola destructor) resistance gene derived from 'Balbo' rye and its transfer to hexaploid wheat via radiation-induced terminal and intercalary chromosomal translocations are described. Crosses between resistant 'Balbo' rye and susceptible 'Suwon 92' wheat and between the F1 amphidiploids and susceptible 'TAM 106' and 'Amigo' wheats produced resistant BC2F3 lines that were identified by C-banding analysis as being 6RL telocentric addition lines. Comparative chromosomal analyses and resistance tests revealed that the resistance gene is located on the 6RL telocentric chromosome. X-irradiated pollen of 6RL addition plants was used to fertilize plants of susceptible wheats 'TAM 106,' 'TAM 101,' and 'Vona.' After several generations of selection for resistance, new sublines were obtained that were homogeneous for resistance. Thirteen of these lines were analyzed by C-banding, and three different wheat-6RL chromosomal translocations (T) were identified. Wheat chromosomes involved in the translocations were 6B, 4B, and 4A. Almost the complete 6RL arm is present in T6BS · 6BL-6RL. Only the distal half of 6RL is present in T4BS · 4BL-6RL, which locates the resistance gene in the distal half of 6RL. Only a very small segment (ca 1.0 μm) of the distal region of 6RL is present in an intercalary translocation (Ti) Ti4AS · 4AL-6RL-4AL. The 6RL segment is inserted in the intercalary region between the centromere of chromosome 4A and the large proximal C-band of 4AL. The break-points of the translocations are outside the region of the centromere, indicating that they were induced by the X-ray treatment. All three translocations are cytologically stable and can be used directly in wheat breeding programs

  10. Use of Y linked translocations in locating mutant loci (Bl, dp) on polytene salivary gland chromosomes of Anopheles stephensi Liston

    International Nuclear Information System (INIS)

    Using two Y linked translocations, in which the break points were tightly linked to the morphological mutants (Bl, dp), the location of mutant loci on polytene salivary gland chromosomes of Anopheles stephensi was determined. In searching for discontinuities in the polytene chromosomes of male larvae from the T(Y-3)20 translocation involving a black larva mutant, a single break point was found in region 36D/37 of 3R. Analysing the polytene chromosomes of male larvae from the T(Y-3)12 translocation involving the diamond palpus, the translocation break point was determined at position 34A of 3R. Because the Y/autosome breakpoint in T(Y-3)20 was tightly linked to the black larva mutant (Bl), and the break point in T(Y-3)12 was tightly linked to the diamond palpus mutant dp, it was concluded that gene Bl is located very close to the map reference 36D/37 of 3R and that the gene dp is located at position 34A of 3R. The mitotic chromosomes of these Y linked translocations are described. (author). 13 refs, 4 figs

  11. Identification by R-banding and FISH of chromosome arms involved in Robertsonian translocations in several deer species.

    Science.gov (United States)

    Bonnet-Garnier, A; Claro, F; Thévenon, S; Gautier, M; Hayes, H

    2003-01-01

    We constructed and analyzed the RBG-banded karyotype of five deer species: Chital (Axis axis), White-lipped deer (Cervus albirostris), Rusa deer (Cervus timorensis russa), Sambar deer (Cervus unicolor) and Eld's deer (Cervus eldi siamensis). Among these five species, only Eld's deer had been previously karyotyped using R-banding. In order to identify all the chromosome correspondences with cattle and precisely which chromosome arms are involved in Robertsonian translocations, we compared the karyotypes of these five species with those of the closely related and well-characterized species, cattle (Bos taurus) and Vietnamese Sika deer (Cervus nippon pseudaxis). Among these six deer species (the five above plus the Vietnamese Sika deer), we found thirteen different Robertsonian translocations involving nineteen different chromosome arms. Thirteen chromosome arms were identified by comparison of R-banding patterns only and the remaining six were either confirmed or identified by FISH-mapping of bovine or caprine probes previously localized in cattle. Finally, we observed that five of the thirteen Robertsonian translocations are shared by at least two species and that some chromosome arms are more frequently involved in Robertsonian translocations than others. PMID:14606627

  12. Robertsonian translocation between chromosomes (no.21/14) in relation to the history of spontaneous abortion in a family

    OpenAIRE

    Mohammad Hasanzadeh-NazarAbadi; Fatemeh Baghbani; Iman Namazi; Salmeh Mirzaee

    2014-01-01

    Background: Approximately 205 million pregnancies occur each year in the worldwide. On the other hand, Spontaneous abortion has been reported in 15-20% of all diagnosed pregnancies. The most common cause of spontaneous abortion is chromosomal abnormalities of the embryo. Robertsonian translocation carriers specially 21-14 are the most common balanced rearrangement among the carrier couples with the history of spontaneous abortion. In order to search for balanced chromosomal rearrangement and ...

  13. Expression of the bcl-2 oncogene protein is not specific for the 14;18 chromosomal translocation.

    OpenAIRE

    F. Pezzella(Istituto Nazionale di Fisica Nucleare, Sezione di Napoli, Complesso Universitario di Monte S. Angelo ed. 6, via Cintia, 80126 Napoli, Italy); Tse, A G; Cordell, J L; Pulford, K. A.; Gatter, K C; Mason, D Y

    1990-01-01

    It has been reported previously that the bcl-2 protooncogene protein is detectable in neoplastic cells from cases of human lymphoma in which the 14;18 chromosomal translocation is present, but not in lymphomas that lack this chromosomal rearrangement or in normal lymphoid tissue. In the present study we confirmed, by immunohistologic labeling with polyclonal and monoclonal antibodies, that bcl-2 protein is strongly expressed in many cases of follicular lymphoma and that these neoplastic folli...

  14. Autosomal dominant congenital cataract in a Libyan Jewish family: cosegregation with a reciprocal chromosomal translocation [t(3;5)(p22.3; p15.1)

    OpenAIRE

    Zafer, Emre; Meck, Jeanne; Gerrad, Liora; Pras, Elon; Frydman, Moshe; Reish, Orit; Avni, Isaac; Pras, Eran

    2008-01-01

    Purpose To describe a Jewish family of Libyan ancestry in which autosomal dominant congenital cataract segregates with an apparently balanced reciprocal chromosomal translocation. Methods Detailed family history and clinical data were recorded. Cytogenetic studies were performed on 13 family members. Results Embryonal cataracts cosegregated through three generations with a balanced chromosomal translocation [t(3;5)(p22.3; p15.1)] while the unbalanced translocation product, 46,XY,-5,+der(5)t(3...

  15. Gross congenital abnormality associated with an apparently balanced chromosomal translocation t(9;17)(q34;q11)

    OpenAIRE

    Dockery, Heather E; Neale, H C; Fitzgerald, P H

    1982-01-01

    Gross mental and physical abnormality is described in an adult female who had some features similar to those of Ehlers-Danlos syndrome. There was no family history of the disorder. The patient also carried a balanced chromosomal translocation t(9;17)(q34;q11).

  16. Mechanism of fragility at BCL2 gene minor breakpoint cluster region during t(14;18) chromosomal translocation.

    Science.gov (United States)

    Nambiar, Mridula; Raghavan, Sathees C

    2012-03-16

    The t(14;18) translocation in follicular lymphoma is one of the most common chromosomal translocations. Breaks in chromosome 18 are localized at the 3'-UTR of BCL2 gene or downstream and are mainly clustered in either the major breakpoint region or the minor breakpoint cluster region (mcr). The recombination activating gene (RAG) complex induces breaks at IgH locus of chromosome 14, whereas the mechanism of fragility at BCL2 mcr remains unclear. Here, for the first time, we show that RAGs can nick mcr; however, the mechanism is unique. Three independent nicks of equal efficiency are generated, when both Mg(2+) and Mn(2+) are present, unlike a single nick during V(D)J recombination. Further, we demonstrate that RAG binding and nicking at the mcr are independent of nonamer, whereas a CCACCTCT motif plays a critical role in its fragility, as shown by sequential mutagenesis. More importantly, we recapitulate the BCL2 mcr translocation and find that mcr can undergo synapsis with a standard recombination signal sequence within the cells, in a RAG-dependent manner. Further, mutation to the CCACCTCT motif abolishes recombination within the cells, indicating its vital role. Hence, our data suggest a novel, physiologically relevant, nonamer-independent mechanism of RAG nicking at mcr, which may be important for generation of chromosomal translocations in humans. PMID:22275374

  17. Abnormal pregnancy of balanced chromosomal translocation carriers%染色体平衡易位与异常孕产

    Institute of Scientific and Technical Information of China (English)

    李忻; 杨鑫; 张韫; 靳耀英

    2011-01-01

    目的 探讨染色体平衡易位与异常孕产的关系.方法 用常规方法制备外用血淋巴细胞染色体标本,对有异常孕产史的夫妇进行染色体G显带核型分析.结果 检出染色体平衡易位携带者15例中,女12例,男3例.平衡携带者表型及智力均无明显异常.结论 染色体平衡易位携带者妊娠结局以孕早期流产为主,染色体平衡易位是造成临床流产、死胎、生育畸形儿的重要原因之一.对平衡易位携带者再次妊娠时必须做产前诊断,控制不良遗传因素个体的出生.%Objective;To investigate the relationship between balanced chromosomal translocation and abnormal pregnancy. Methods: Chromosomal karyotypes were examined in married couples with a history of abnormal pregnancy by periphery blood lymphocyte culture and carried out C banding. Results;We detected IS cases with balanced chromosomal translocation, 12 cases were female and 3 cases were male. Phenotype and intelligence in the carriers of balanced chromosomal translocation were not significantly abnormal. Conclusion: Spontaneous abortion in the first trimester is the main mode of abnormal pregnancy in the carriers of balanced chromosomal translocation, there is a close relationship between balanced translocations and spontaneous abortions. Cvtogenetic deception is necessary for carriers and their families in fundamental hospital, it can be helpful for prenatal diagnosis and eugenic.

  18. Supernumerary Chromosome Marker Der(22t(11;22 Resulting from a Maternal Balanced Translocation

    Directory of Open Access Journals (Sweden)

    Jia-Woei Hou

    2003-01-01

    Full Text Available Derivative 22 [der(22] syndrome is a rare disorder associated with multiple congenitalanomalies including pre-auricular skin tags or pits, conotruncal heart defects, and profoundmental retardation. Der(22t(11;22 is one of the causes of supernumerary chromosomemarkers (mar in humans. We present a boy with developmental delay and multiple anomaliesconsistent with the supernumerary der(22 syndrome. Cytogenetic analysis showed anabnormal chromosome complement of 47, XY, +mar in all 50 cells analyzed. The karyotypeof his mother showed a reciprocal translocation over the distal bands 11q23 and 22q11,respectively, i.e., 46,XX,t(11;22(q23.3;q11.2, and that of his father was 46,XY. Thus, thenature of the supernumerary chromosome markers was of der(22t(11;22(q23.3;q11.2. Theclinical features, including craniofacial dysmorphism, hypotonia, psychomotor retardation,heart defects, and urogenital anomalies, were the combined effects of partial trisomies forboth distal 11q and pericentromeric 22q.

  19. Oncogenic conversion of a novel orphan nuclear receptor by chromosome translocation.

    Science.gov (United States)

    Labelle, Y; Zucman, J; Stenman, G; Kindblom, L G; Knight, J; Turc-Carel, C; Dockhorn-Dworniczak, B; Mandahl, N; Desmaze, C; Peter, M

    1995-12-01

    A recurrent t(9;22) (q22;q12) chromosome translocation has been described in extraskeletal myxoid chondrosarcoma (EMC). Fluorescent in situ hybridization experiments performed on one EMC tumour indicated that the chromosome 22 breakpoint occurred in the EWS gene. Northern blot analysis revealed an aberrant EWS transcript which is cloned by a modified RT-PCR procedure. This transcript consists of an in-frame fusion of the 5' end of EWS to a previously unidentified gene, which was named TEC. This fusion transcript was detected in six of eight EMC studied, and three different junction types between the two genes were found. In all junction types, the putative translation product contained the amino-terminal transactivation domain of EWS linked to the entire TEC protein. Homology analysis showed that the predicted TEC protein contains a DNA-binding domain characteristic of nuclear receptors. The highest identity scores were observed with the NURR1 family of orphan nuclear receptors. These receptors are involved in the control of cell proliferation and differentiation by modulating the response to growth factors and retinoic acid. This work provides, after the PML/RAR alpha gene fusion, the second example of the oncogenic conversion of a nuclear receptor and the first example involving the orphan subfamily. Analysis of the disturbance induced by the EWS/TEc protein in the nuclear receptor network and their target genes may lead to new approaches for EMC treatment. PMID:8634690

  20. First Birth after Sperm Selection through Discontinuous Gradient Centrifugation and Artificial Insemination from a Chromosomal Translocation Carrier

    Directory of Open Access Journals (Sweden)

    Alexandre Rouen

    2014-01-01

    Full Text Available Introduction. Balanced chromosomal carriers, though usually healthy, are confronted with recurrent spontaneous abortions and malformations in the offspring. Those are related to the transmission of an abnormal, chromosomally unbalanced genotype. We evidenced that the proportion of unbalanced spermatozoa can be significantly decreased through a sperm preparation process called discontinuous gradient centrifugation (DGC. We therefore started offering intrauterine inseminations with this procedure to couples with a male translocation carriers. Case Presentation. We report the case of a 37-year-old man carrying a t(3;10(q25;p13 reciprocal translocation. He and his partner had had trouble conceiving for ten years and had four spontaneous abortions. DGC in this patient decreased the proportion of unbalanced spermatozoa from 63.6% to 52.3%. They were therefore offered intrauterine insemination with DGC, which eventually led to the birth of a healthy female child carrying the paternal translocation. Conclusion. We showed that translocation carriers could be offered intrauterine inseminations with DGC. Before this, the only two options were natural conception with prenatal diagnosis and termination of chromosomally unbalanced fetuses or preimplantation genetic diagnosis, which is a much heavier and costly procedure. We are currently offering this option through a multicentric program in France, and this is the first birth originating from it.

  1. Haploinsufficiency of activation-induced deaminase for antibody diversification and chromosome translocations both in vitro and in vivo.

    Directory of Open Access Journals (Sweden)

    Isora V Sernández

    Full Text Available The humoral immune response critically relies on the secondary diversification of antibodies. This diversification takes places through somatic remodelling of the antibody genes by two molecular mechanisms, Class Switch Recombination (CSR and Somatic Hypermutation (SHM. The enzyme Activation Induced Cytidine Deaminase (AID initiates both SHM and CSR by deaminating cytosine residues on the DNA of immunoglobulin genes. While crucial for immunity, AID-catalysed deamination is also the triggering event for the generation of lymphomagenic chromosome translocations. To address whether restricting the levels of AID expression in vivo contributes to the regulation of its function, we analysed mice harbouring a single copy of the AID gene (AID(+/-. AID(+/- mice express roughly 50% of normal AID levels, and display a mild hyperplasia, reminiscent of AID deficient mice and humans. Moreover, we found that AID(+/- cells have an impaired competence for CSR and SHM, which indicates that AID gene dose is limiting for its physiologic function. We next evaluated the impact of AID reduction in AID(+/- mice on the generation of chromosome translocations. Our results show that the frequency of AID-promoted c-myc/IgH translocations is reduced in AID(+/- mice, both in vivo and in vitro. Therefore, AID is haploinsufficient for antibody diversification and chromosome translocations. These findings suggest that limiting the physiologic levels of AID expression can be a regulatory mechanism that ensures an optimal balance between immune proficiency and genome integrity.

  2. First Birth after Sperm Selection through Discontinuous Gradient Centrifugation and Artificial Insemination from a Chromosomal Translocation Carrier.

    Science.gov (United States)

    Rouen, Alexandre; Hyon, Capucine; Balet, Richard; Joyé, Nicole; Cassuto, Nino Guy; Siffroi, Jean-Pierre

    2014-01-01

    Introduction. Balanced chromosomal carriers, though usually healthy, are confronted with recurrent spontaneous abortions and malformations in the offspring. Those are related to the transmission of an abnormal, chromosomally unbalanced genotype. We evidenced that the proportion of unbalanced spermatozoa can be significantly decreased through a sperm preparation process called discontinuous gradient centrifugation (DGC). We therefore started offering intrauterine inseminations with this procedure to couples with a male translocation carriers. Case Presentation. We report the case of a 37-year-old man carrying a t(3;10)(q25;p13) reciprocal translocation. He and his partner had had trouble conceiving for ten years and had four spontaneous abortions. DGC in this patient decreased the proportion of unbalanced spermatozoa from 63.6% to 52.3%. They were therefore offered intrauterine insemination with DGC, which eventually led to the birth of a healthy female child carrying the paternal translocation. Conclusion. We showed that translocation carriers could be offered intrauterine inseminations with DGC. Before this, the only two options were natural conception with prenatal diagnosis and termination of chromosomally unbalanced fetuses or preimplantation genetic diagnosis, which is a much heavier and costly procedure. We are currently offering this option through a multicentric program in France, and this is the first birth originating from it. PMID:24587925

  3. Molecular localization of the t(11;22)(q24;q12) translocation of Ewing sarcoma by chromosomal in situ suppression hybridization

    International Nuclear Information System (INIS)

    Chromosome translocations are associated with a variety of human leukemias, lymphomas, and solid tumors. To localize molecular markers flanking the t(11;22)(q24;q12) breakpoint that occurs in virtually all cases of Ewing sarcoma and peripheral neuroepithelioma, high-resolution chromosomal in situ suppression hybridization was carried out using a panel of cosmid clones localized and ordered on chromosome 11q. The location of the Ewing sarcoma translocation breakpoint was determined relative to the nearest two cosmid markers on 11q, clones 23.2 and 5.8, through the analysis of metaphase chromosome hybridization. By in situ hybridization to interphase nuclei, the approximate physical separation of these two markers was determined. In both Ewing sarcoma and peripheral neuroepithelioma, cosmid clone 5.8 is translocated from chromosome 11q24 to the derivative chromosome 22 and a portion of chromosome 22q12 carrying the leukemia inhibitory factor gene is translocated to the derivative chromosome 11. The physical distance between the flanking cosmid markers on chromosome 11 was determined to be in the range of 1,000 kilobases, and genomic analysis using pulsed-field gel electrophoresis showed no abnormalities over a region of 650 kilobases in the vicinity of the leukemia inhibitory factor gene on chromosome 22. This approach localizes the Ewing sarcoma breakpoint to a small region on chromosome 11q24 and provides a rapid and precise technique for the molecular characterization of chromosomal aberrations

  4. A complex double translocation involving four chromosomes and five breakpoints in a child with mild mental retardation.

    OpenAIRE

    Couzin, D A; Watt, J L; Auchterlonie, I. A.

    1983-01-01

    A 6-year-old boy with speech delay and mild mental retardation (IQ 82) was found to have a complex double translocation involving four chromosomes and a total of five breakpoints, two being on the same arm. This resulted in the karyotype 46,XY,t(2;4;7)(7;8)(q14;q31;q11q22;q13). As far as the authors are aware this is the first time that such a complex double translocation has been reported. Both parents had normal karyotypes.

  5. Mechanism of the t(14;18) chromosomal translocation: structural analysis of both derivative 14 and 18 reciprocal partners

    International Nuclear Information System (INIS)

    To elucidate the mechanism of the t(14;18)(q32;q21) chromosomal translocation found in follicular lymphoma, the authors examined the structure of both derivative (der) chromosomal breakpoints as well as their germ-line predecessors. They noted that chromosome segment 18q21 was juxtaposed with immunoglobulin heavy (H) chain gene diversity (D/sub H/) regions on all five der(18) chromosomes they examined, and they confirmed the juncture with immunoglobulin H-chain gene joining (J/sub H/) regions on the der(14) chromosome. However, the t(14;18) was not fully reciprocal in that chromosome 14 DNA between the D/sub H/ and J/sub H/ regions was deleted. Furthermore, extra nucleotides, reminiscent of N segments, were present at the der(14) and possibly der(18) junctions. This indicates that despite the mature B-cell phenotype of follicular lymphoma, the t(14;18) occurs during attempted D/sub H/-J/sub H/ joining, the earliest event in immunoglobulin rearrangement in a pre-B-cell. The detailed analysis of the germ-line 18q21 region indicated that most breakpoints clustered within a 150-base-pair major breakpoint region. A direct repeat duplication of chromosome 18 sequences was discovered at both chromosomal junctures, typical of the repair of a naturally occurring staggered double-stranded DNA break. These results prompt a translocation model with illegitimate pairing of a staggered double-stranded DNA break at 18q21 and an immunoglobulin endonuclease-mediated break at 14q32 and with N-segment addition, repair, and ligation to generate der(14) and der(18) chromosomes

  6. Mechanism of the t(14; 18) chromosomal translocation: structural analysis of both derivative 14 and 18 reciprocal partners

    Energy Technology Data Exchange (ETDEWEB)

    Bakhshi, A.; Wright, J.J.; Graninger, W.; Seto, M.; Owens, J.; Cossman, J.; Jensen, J.P.; Goldman, P.; Korsmeyer, S.J.

    1987-04-01

    To elucidate the mechanism of the t(14;18)(q32;q21) chromosomal translocation found in follicular lymphoma, the authors examined the structure of both derivative (der) chromosomal breakpoints as well as their germ-line predecessors. They noted that chromosome segment 18q21 was juxtaposed with immunoglobulin heavy (H) chain gene diversity (D/sub H/) regions on all five der(18) chromosomes they examined, and they confirmed the juncture with immunoglobulin H-chain gene joining (J/sub H/) regions on the der(14) chromosome. However, the t(14;18) was not fully reciprocal in that chromosome 14 DNA between the D/sub H/ and J/sub H/ regions was deleted. Furthermore, extra nucleotides, reminiscent of N segments, were present at the der(14) and possibly der(18) junctions. This indicates that despite the mature B-cell phenotype of follicular lymphoma, the t(14;18) occurs during attempted D/sub H/-J/sub H/ joining, the earliest event in immunoglobulin rearrangement in a pre-B-cell. The detailed analysis of the germ-line 18q21 region indicated that most breakpoints clustered within a 150-base-pair major breakpoint region. A direct repeat duplication of chromosome 18 sequences was discovered at both chromosomal junctures, typical of the repair of a naturally occurring staggered double-stranded DNA break. These results prompt a translocation model with illegitimate pairing of a staggered double-stranded DNA break at 18q21 and an immunoglobulin endonuclease-mediated break at 14q32 and with N-segment addition, repair, and ligation to generate der(14) and der(18) chromosomes.

  7. Analysis of chromosome translocation in the residents of Namie Town after the accident of Fukushima Daiichi Nuclear Power Plant

    International Nuclear Information System (INIS)

    The dose estimation by behavior survey of the residents carried out by Fukushima Prefecture after the accident reported that there are no residents who were exposed by over 1 mSv radiation. However, a lot of the parents are worrying about the health condition of their children in future. Our Hirosaki University accepted the request of the local government of this Namie-Town in Fukushima which wants to know whether children were exposed by radiological substances or not and started the inspection about the contamination and exposure level and dose estimation at an accident using chromosomal translocation analysis for 855 out of 3700 children whose age was under 18 years old at the time of accident. In order to estimate radiation dose using chromosome aberration in the accidents, there are four kinds of cytogenetic method; dicentric assay, a translocation assay, the PCC-ring assay and micronucleus test. A dicentric assay is used for the dose estimation in acute and external exposure cases, the chromosomal translocation method for dose assessment in chronic and old exposure and the PCC method for high dose exposure, respectively. In the case of the residents in Namie-Town, since about one year and ten months had already passed after the accident when implementation of this inspection was determined, the chromosomal translocation method was applied for the dose estimation of the initial exposure level. The main purpose of this translocation analysis using their own cells is to take away affairs of the residents including parents and children and also to reduce the uneasiness which is not wiped away by the health check due to a behavioral survey. In this inspection, after the contents and process of this analysis were explained in the Tsushima, Namie-Town temporarily constructed clinic, 3∼4 ml of whole 5 blood were taken from each children whose parents agreed with this analysis. The lymphocytic cells are isolated from the whole blood using CPT (Cell Preparation Tube

  8. Studies on x-ray induced chromosomal translocations in Anopheles albimanus. II. Laboratory evaluation of sexual competitiveness of translocation males

    International Nuclear Information System (INIS)

    Success of a genetic control program in a sexually reproducing species depends largely on the mating competitiveness of the released individuals. The sexual vigor of male Anopheles albimanus mosquitoes carrying a Y-autosome translocation was evaluated in the laboratory and found to be equal to that of wild type males

  9. Identification of disrupted AUTS2 and EPHA6 genes by array painting in a patient carrying a de novo balanced translocation t(3;7) with intellectual disability and neurodevelopment disorder.

    Science.gov (United States)

    Schneider, Anouck; Puechberty, Jacques; Ng, Bee Ling; Coubes, Christine; Gatinois, Vincent; Tournaire, Magali; Girard, Manon; Dumont, Bruno; Bouret, Pauline; Magnetto, Julia; Baghdadli, Amaria; Pellestor, Franck; Geneviève, David

    2015-12-01

    Intellectual disability (ID) is a frequent feature but is highly clinically and genetically heterogeneous. The establishment of the precise diagnosis in patients with ID is challenging due to this heterogeneity but crucial for genetic counseling and appropriate care for the patients. Among the etiologies of patients with ID, apparently balanced de novo rearrangements represent 0.6%. Several mechanisms explain the ID in patients with apparently balanced de novo rearrangement. Among them, disruption of a disease gene at the breakpoint, is frequently evoked. In this context, technologies recently developed are used to characterize precisely such chromosomal rearrangements. Here, we report the case of a boy with ID, facial features and autistic behavior who is carrying a de novo balanced reciprocal translocation t(3;7)(q11.2;q11.22)dn. Using microarray analysis, array painting (AP) technology combined with molecular study, we have identified the interruption of the autism susceptibility candidate 2 gene (AUTS2) and EPH receptor A6 gene (EPHA6). We consider that the disruption of AUTS2 explains the phenotype of the patient; the exact role of EPHA6 in human pathology is not well defined. Based on the observation of recurrent germinal and somatic translocations involving AUTS2 and the molecular environment content, we put forward the hypothesis that the likely chromosomal mechanism responsible for the translocation could be due either to replicative stress or to recombination-based mechanisms. PMID:26333717

  10. Identification of a human transcription unit affected by the variant chromosomal translocations 2; 8 and 8; 22 of Burkitt lymphoma

    Energy Technology Data Exchange (ETDEWEB)

    Shtivelman, E.; Henglein, B.; Groitl, P.; Lipp, M.; Bishop, J.M. (Univ. of California, San Francisco (USA))

    1989-05-01

    Chromosomal translocations in Burkitt lymphoma and mouse plasmacytomas typically lie within or near the protooncogene MYC. In some instances, however, these tumors contain variant translocations with breakpoints located more distant from and downstream of MYC, in a domain commonly known as pvt-1. Until now, there has been no evidence that pvt-1 marks the location of a functional gene. Here the authors report the identification of a large transcriptional unit in human DNA that includes pvt-1. The authors have designated this unit as PVT. PVT begins 57 kilobase pairs downstream of MYC and occupies a minimum of 200 kilobase pairs of DNA. Some of the translocations that occur downstream of MYC in Burkitt lymphoma transect PVT; others lie between the two genes. None of the translocations they have studied appear to enhance transcription from an intact allele of PVT (indeed, they may inactivate that transcription), but some are associated with the production of abundant and anomalous 0.8- to 1.0-kilobase RNAs that contain the 5{prime} exon of PVT and sequences transcribed from the constant region of an immunoglobulin gene (the reciprocal participant in the translocation). Identification of PVT should facilitate the exploration of how translocations downstream of MYC and insertions of retroviral DNA in the vicinity of pvt-1 might contribute to tumorigenesis.

  11. Over half of breakpoints in gene pairs involved in cancer-specific recurrent translocations are mapped to human chromosomal fragile sites

    Directory of Open Access Journals (Sweden)

    Pierce Levi CT

    2009-01-01

    Full Text Available Abstract Background Gene rearrangements such as chromosomal translocations have been shown to contribute to cancer development. Human chromosomal fragile sites are regions of the genome especially prone to breakage, and have been implicated in various chromosome abnormalities found in cancer. However, there has been no comprehensive and quantitative examination of the location of fragile sites in relation to all chromosomal aberrations. Results Using up-to-date databases containing all cancer-specific recurrent translocations, we have examined 444 unique pairs of genes involved in these translocations to determine the correlation of translocation breakpoints and fragile sites in the gene pairs. We found that over half (52% of translocation breakpoints in at least one gene of these gene pairs are mapped to fragile sites. Among these, we examined the DNA sequences within and flanking three randomly selected pairs of translocation-prone genes, and found that they exhibit characteristic features of fragile DNA, with frequent AT-rich flexibility islands and the potential of forming highly stable secondary structures. Conclusion Our study is the first to examine gene pairs involved in all recurrent chromosomal translocations observed in tumor cells, and to correlate the location of more than half of breakpoints to positions of known fragile sites. These results provide strong evidence to support a causative role for fragile sites in the generation of cancer-specific chromosomal rearrangements.

  12. Identification by R-banding and FISH of chromosome arms involved in Robertsonian translocations in several deer species

    OpenAIRE

    Bonnet-Garnier, Amelie; Claro, F.; Thevenon, S.; Gautier, Mathieu; Hayes, Hélène

    2003-01-01

    We constructed and analyzed the RBG-banded karyotype of ¢ve deer species: Chital (Axis axis), White-lipped deer (Cervus albirostris), Rusa deer (Cervus timorensis russa), Sambar deer (Cervus unicolor) and Eld’s deer (Cervus eldi siamensis). Among these ¢ve species, only Eld’s deer had been previously karyotyped using R-banding. In order to identify all the chromosome correspondences with cattle and precisely which chromosome arms are involved in Robertsonian translocations, we compared the ka...

  13. Over half of breakpoints in gene pairs involved in cancer-specific recurrent translocations are mapped to human chromosomal fragile sites

    OpenAIRE

    Pierce Levi CT; Williams Laura E; Burrow Allison A; Wang Yuh-Hwa

    2009-01-01

    Abstract Background Gene rearrangements such as chromosomal translocations have been shown to contribute to cancer development. Human chromosomal fragile sites are regions of the genome especially prone to breakage, and have been implicated in various chromosome abnormalities found in cancer. However, there has been no comprehensive and quantitative examination of the location of fragile sites in relation to all chromosomal aberrations. Results Using up-to-date databases containing all cancer...

  14. Inheritance of a Chromosome 3 and 21 Translocation in the Fetuses, with One also Having Trisomy 21, in Three Pregnancies in One Family.

    Science.gov (United States)

    Pazarbasi, A; Demirhan, O; Alptekin, D; Ozgunen, Ft; Ozpak, L; Yilmaz, Mb; Nazlican, E; Tanriverdi, N; Luleyap, U; Gümürdülü, D

    2013-12-01

    The majority of chromosome rearrangements are balanced reciprocal and Robertsonian translocations. It is now known that such abnormalities cause no phenotypic effect on the carrier but lead to increased risk of producing unbalanced gametes. Here, we report the inheritance of a translocation between chromosomes 3 and 21 in a family with one of two fetuses with Down Syndrome carrying the same translocation and the other also carrying the same translocation without the additional chromosome 21. Chromosomal analysis from fetal amniotic fluid and peripheral blood lymphocytes from the family were performed at the Çukurova University Hospital at Adana, Turkey. We assessed a family in which the translocation between chromosomes 3 and 21 segregates: one of the three progenies carried the 47,XX,+21,t(3;21)(q21;q22) karyotype and presented with Down Syndrome; another of the three progenies carried the 46,XX,t(3;21) (q21;q22) karyotype and the third had the 46,XY karyotype. Their mother is phenotypically normal. Apparently this rearrangement occurred due to an unbalanced chromosome segregation of the mother [t(3;21)(q21;q22)mat]. This family will enable us to explain the behavior of segregation patterns and the mechanism for each type of translocation from carrier to carrier and their effects on reproduction and numerical aberrations. These findings can be used in clinical genetics and may be used as an effective tool for reproductive guidance and genetic counseling. PMID:24778571

  15. Asplenia syndrome in a child with a reciprocal translocation of chromosomes 11 and 20 [46,XX,t(11;20)(q13.1;q13.13)

    Energy Technology Data Exchange (ETDEWEB)

    Freeman, S.B.; Muraldharan, K.; Pettay, D. [Emory Univ. School of Medicine, Atlanta, GA (United States)] [and others

    1994-09-01

    Failure to establish the left-right embryonic axis results in abnormalities of laterality; situs solitus is replaced by situs inversus totalis or various degrees of heterotaxy involving the heart, great vessels, lungs, liver, spleen, and/or bowel. Laterality syndromes are likely to be genetically heterogeneous although specific human genes have not been identified. Families with dominant, recessive, and X-linked laterality syndromes have been reported as well as individuals with situs abnormalities and chromosome rearrangements. The latter offer the possibility of narrowing the gene search to specific chromosome regions. A recent report described an infant with polysplenia syndrome and a paracentric inversion of chromosome 11 [46,XX,inv(11)(q13q25)pat]. We report the second case of a child with laterality abnormalities and a chromosome rearrangement involving a similar breakpoint on chromosome 11. The proband is a 6 y/o female with mental retardation, dysmorphic features, pulmonic stenosis, asplenia, Hirschsprung disease, and a balanced, reciprocal translocation involving chromosomes 11 and 20 [46,XX,t(11;20)(q13,1;q13.13)pat]. Using DNA probes we have excluded uniparental disomy for chromosomes 11 and 20. If a gene for determination of laterality lies in the 11q13 region, the proband`s abnormalities could be the result of her receiving an allele disrupted by the paternal translocation as well as a mutant allele from her mother. To investigate this possibility, we are studying the segregation of maternal chromosome 11 markers in the proband and her balanced carrier and non-carrier siblings.

  16. Identification of 2nd chromosome region translocated onto the W chromosome by RFLP with EST-cDNA clones in the Gensei-kouken strains of the mulberry silkworm, Bombyx mori L

    Directory of Open Access Journals (Sweden)

    Sivaramakurup Sreekumar

    2010-01-01

    Full Text Available In silkworms, sex-limited strains are either obtained spontaneously or induced by X-rays or gamma rays. When a fragment of an autosome carrying a dominant allele of those genes responsible for certain characters is translocated onto a W chromosome, the female of the successive generations will express these phenotypic characters and sex discrimination can be facilitated. Gensei-kouken strains are sex-limited strains of silkworms developed by irradiating the pupae with gamma rays, by which a portion of the second chromosome is translocated onto the W chromosome. In these improved strains, the females are yellow-blooded and spin yellow cocoons. By using the EST-cDNA clones mapped on the Z chromosome, we identified the sex according to the polymorphic banding pattern or intensity of the signals. Furthermore, by using the clones on the second chromosome, the region of the second chromosome translocated onto the W chromosome was also defined. In both the A95 and A 96 strains selected for the present study, only the mid-portion of the second chromosome was translocated. The differences in length of the fragments translocated in these strains are discussed.

  17. Hormad1 mutation disrupts synaptonemal complex formation, recombination, and chromosome segregation in mammalian meiosis.

    Directory of Open Access Journals (Sweden)

    Yong-Hyun Shin

    2010-11-01

    Full Text Available Meiosis is unique to germ cells and essential for reproduction. During the first meiotic division, homologous chromosomes pair, recombine, and form chiasmata. The homologues connect via axial elements and numerous transverse filaments to form the synaptonemal complex. The synaptonemal complex is a critical component for chromosome pairing, segregation, and recombination. We previously identified a novel germ cell-specific HORMA domain encoding gene, Hormad1, a member of the synaptonemal complex and a mammalian counterpart to the yeast meiotic HORMA domain protein Hop1. Hormad1 is essential for mammalian gametogenesis as knockout male and female mice are infertile. Hormad1 deficient (Hormad1(-/ (- testes exhibit meiotic arrest in the early pachytene stage, and synaptonemal complexes cannot be visualized by electron microscopy. Hormad1 deficiency does not affect localization of other synaptonemal complex proteins, SYCP2 and SYCP3, but disrupts homologous chromosome pairing. Double stranded break formation and early recombination events are disrupted in Hormad1(-/ (- testes and ovaries as shown by the drastic decrease in the γH2AX, DMC1, RAD51, and RPA foci. HORMAD1 co-localizes with γH2AX to the sex body during pachytene. BRCA1, ATR, and γH2AX co-localize to the sex body and participate in meiotic sex chromosome inactivation and transcriptional silencing. Hormad1 deficiency abolishes γH2AX, ATR, and BRCA1 localization to the sex chromosomes and causes transcriptional de-repression on the X chromosome. Unlike testes, Hormad1(-/ (- ovaries have seemingly normal ovarian folliculogenesis after puberty. However, embryos generated from Hormad1(-/ (- oocytes are hyper- and hypodiploid at the 2 cell and 8 cell stage, and they arrest at the blastocyst stage. HORMAD1 is therefore a critical component of the synaptonemal complex that affects synapsis, recombination, and meiotic sex chromosome inactivation and transcriptional silencing.

  18. Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies

    DEFF Research Database (Denmark)

    Kim, Hyung-Goo; Kim, Hyun-Taek; Leach, Natalia T;

    2012-01-01

    development, and suppression of the latter led to both craniofacial abnormalities and neuronal apoptosis. Along with lysine-specific demethylase 1 (LSD1), PHF21A, also known as BHC80, is a component of the BRAF-histone deacetylase complex that represses target-gene transcription. In lymphoblastoid cell lines...... from two translocation subjects in whom PHF21A was directly disrupted by the respective breakpoints, we observed derepression of the neuronal gene SCN3A and reduced LSD1 occupancy at the SCN3A promoter, supporting a direct functional consequence of PHF21A haploinsufficiency on transcriptional...

  19. Characterization of Thinopyrum intermedium Alien Chromosomes and Their Translocations in Wheat Derivatives of Zhong 5 by Multicolor Fluorescence in situ Hybridization

    Institute of Scientific and Technical Information of China (English)

    2000-01-01

    Z1, Z2, Z3, Z4, Z5 and Z6 are alien addition lines to wheat involving Thinopyrum intermedium chromosomes. We have characterized the Thinopyrum intermedium chromosomes or segments in these lines using multi-color florescence in situ hybridization. The probes used included total genomic DNA of Pseudoroegneria stipfolia (St) and cloned probes of highly tandem repetitive DNA pSc119. 2 and pAs1. Disomic addition lines Z1, Z2 and Z6 have the same single pair of alien chromo-somes carrying the resistant gene(s) to barley yellow dwarf virus (BYDV). This alien chromosome is a St/E translocation; within the long arm, there is a big insertion of an E-genome chromosomalsegment (30%). Disomic addition line Z3 carries one pair of St/E Robertsonian translocation chromosomes ; on the short arm (E) there is a nuclear organizer region, which expresses in some cells. In Z5, the added chromosome is one pair of translocated chromosomes. Chromosomes 2D, 3D and 3Stwere involved in the translocation with great possibility[2IS · 3DL (0. 47) - 3StL (0. 53)]. The St segment is responsible for resistance to leaf and stem rusts. Addition line Z4 also carries the translo cated chromosome found in Z5, but in addition carries one pair of 7AS (0. 64) - 7StS (0. 36) · 7StL translocation chromosomes. The 7St fragment bears the stripe rust resistance, and replaces the normal 7A. All of the translocations in Z1, Z2, Z6 and Z3 existed in one of their parents, the wheat Th. intermedium partial amphiploid, Zhong 5. The two wheat-Th. intermedium translocations in Z4 and Z5 occurred during the backcrossing of Zhong 5 to the other wheat varieties in the development of the addition lines. Spontaneous homoeologous translocations showed a close genome relationship between wheat and Th. intermedium. This paper also demonstrated the potential of highly repetitive sequences DNA in verification and characterization of translocation chromosomes.

  20. Characterization of Thinopyrum intermedium Alien Chromosomes and Their Translocations in Wheat Derivatives of Zhong 5 by Multicolor Fluorescence in situ Hybridization

    Institute of Scientific and Technical Information of China (English)

    Zhang Xueyong; Phillip M Banks; P.J. Larkin

    2000-01-01

    Z1, Z2, Z3, Z4, Z5 and Z6 are alien addition lines to wheat involving Thinopyrum intermedium chromosomes. We have characterized the Thinopyrum intermedium chromosomes or segments in these lines using multi-color florescence in situ hybridization. The probes used included total genomic DNA of Pseudoroegneria stipfolia (St) and cloned probes of highly tandem repetitive DNA pSc119. 2 and pAs1. Disomic addition lines Z1, Z2 and Z6 have the same single pair of alien chromo-somes carrying the resistant gene(s) to barley yellow dwarf virus (BYDV). This alien chromosome is a St/E translocation; within the long arm, there is a big insertion of an E-genome chromosomalsegment (30%). Disomic addition line Z3 carries one pair of St/E Robertsonian translocation chromosomes ; on the short arm (E) there is a nuclear organizer region, which expresses in some cells. In Z5, the added chromosome is one pair of translocated chromosomes. Chromosomes 2D, 3D and 3Stwere involved in the translocation with great possibility〔2IS · 3DL (0. 47) - 3StL (0. 53)〕. The St segment is responsible for resistance to leaf and stem rusts. Addition line Z4 also carries the translo cated chromosome found in Z5, but in addition carries one pair of 7AS (0. 64) - 7StS (0. 36) · 7StL translocation chromosomes. The 7St fragment bears the stripe rust resistance, and replaces the normal 7A. All of the translocations in Z1, Z2, Z6 and Z3 existed in one of their parents, the wheat Th. intermedium partial amphiploid, Zhong 5. The two wheat-Th. intermedium translocations in Z4 and Z5 occurred during the backcrossing of Zhong 5 to the other wheat varieties in the development of the addition lines. Spontaneous homoeologous translocations showed a close genome relationship between wheat and Th. intermedium. This paper also demonstrated the potential of highly repetitive sequences DNA in verification and characterization of translocation chromosomes.

  1. Familial chromosome translocation t(3;18)(p21;p11).

    OpenAIRE

    Buchinger, G; Wettstein, A; Metze, H

    1981-01-01

    A familial translocation t(3;18)(p21;p11) was observed in a newborn male. He had multiple malformations resulting from partial trisomy 3 and partial monosomy 18. The mother, maternal uncle, and maternal grandmother were found to be balanced translocation carriers. A daughter of the maternal uncle with similar malformations probably had the same unbalanced karyotype as the proband.

  2. Roles of nonhomologous DNA end joining, V(D)J recombination, and class switch recombination in chromosomal translocations.

    Science.gov (United States)

    Lieber, Michael R; Yu, Kefei; Raghavan, Sathees C

    2006-09-01

    When a single double-strand break arises in the genome, nonhomologous DNA end joining (NHEJ) is a major pathway for its repair. When double-strand breaks arise at two nonhomologous sites in the genome, NHEJ also appears to be a major pathway by which the translocated ends are joined. The mechanism of NHEJ is briefly summarized, and alternative enzymes are also discussed. V(D)J recombination and class switch recombination are specialized processes designed to create double-strand DNA breaks at specific locations in the genomes of lymphoid cells. Sporadic Burkitt's lymphoma and myelomas can arise due to translocation of the c-myc gene into the Ig heavy chain locus during class switch recombination. In other lymphoid neoplasms, the RAG complex can create double-strand breaks that result in a translocation. Such RAG-generated breaks occur at very specific nucleotides that are directly adjacent to sequences that resemble canonical heptamer/nonamer sequences characteristic of normal V(D)J recombination. This occurs in some T cell leukemias and lymphomas. The RAG complex also appears capable of recognizing regions for their altered DNA structure rather than their primary sequence, and this may account for the action by RAGs at some chromosomal translocation sites, such as at the bcl-2 major breakpoint region in the follicular lymphomas that arise in B lymphocytes. PMID:16793349

  3. First-trimester combined screening is effective for the detection of unbalanced chromosomal translocations at 11 to 12 weeks of gestation.

    Science.gov (United States)

    Huang, Shangyu; Chang, Chialin; Cheng, Pojen; Hsiao, Chinghua; Soong, Yungkuei; Duan, Tao

    2014-05-01

    The first trimester combined screening, which analyzes fetal nuchal translucency and levels of free β-human chorionic gonadotropin (β-hCG) and pregnancy-associated plasma protein A (PAPP-A) in maternal serum, is routinely used to detect abnormal pregnancies associated with Down syndrome and other trisomy aneuploidies. Based on the hypothesis that major chromosomal translocations could lead to similar biochemical and developmental outcomes during early embryo development, we compared these markers among pregnancies with normal, balanced, or unbalanced fetal karyotypes. Among the parents, 71 (73%) carry balanced reciprocal translocation and 26 (27%) have Robertsonian translocation. Of the 97 pregnancies tested, 39 (40%), 37 (37%), and 22 (23%) fetuses had normal karyotype, balanced chromosomal translocations, and unbalanced chromosomal translocations, respectively. Importantly, we found that pregnancies with an unbalanced translocation had significantly higher free β-hCG multiple of the median (MoM) and larger nuchal translucency thickness than those with normal karyotype or balanced translocations. Analysis showed that the area under a receiver operating characteristic curve (AUC) is 0.716, 0.820, and 0.936 for free β-hCG MoM, PAPP-A MoM, and fetal nuchal translucency, respectively. When these 3 independent factors were combined, the AUC reached 0.976. In addition, logistic regression showed that the most optimal model for predicting an unbalanced chromosomal translocation is a combination of PAPP-A and nuchal translucency with an AUC of 0.980. Therefore, the first trimester combined screening is not only effective in the screening of Down syndrome and other trisomy abnormalities but also has high sensitivity for the detection of unbalanced chromosomal translocations in fetuses. PMID:24177714

  4. Multiplex Reverse Transcription-Polymerase Chain Reaction for Simultaneous Screening of 29 Chromosomal Translocation in Hematologic Malignancies

    Institute of Scientific and Technical Information of China (English)

    2006-01-01

    Multiplex reverse transcription-polymerase chain reaction (M-RT-PCR) has been proved to possess great clinical potential for simultaneous screening of 29 chromosomal translocations in acute leukemia. To evaluate the clinical value of M-RT-PCR in hematologic malignancies, bone marrow samples from 90 patients with various hematologic malignancies, including 25 acute myeloge nous leukemia (AML), 22 acute lymphoblastic leukemia (ALL), 27 chronic myelogenous leukemia (CML), 4 myeloproliferative diseases (MPD), 3 chronic lymphoblastic leukemia (CLL), 3 and 1 malignant histocytosis (MH) were subjected to both M-RT-PCR and chromosome karyotypic analysis. Some of cases were subjected to follow-up examination of M-RT-PCR during the period of ukemia. In our hand, 12 of 29chromosomal translocation transcripts including TEL/PDGFR, DEK/CAN, MLL/AF6, AML1/ETO,F9, BCR/ABL, MLL/MLL, PML/RARα, TLS/ERG, E2A/HLF, EVIl and HOXI1 were detected in 57 cases (63.3 %) of the 90 samples, which were in consistence with the results of karyore, M-RT-PCR had also shown good clinical relevance when used as an approach to detect minimal residual leukemia. We concluded that M-RT-PCR could be used as an effiy in the initial diagnosis of hematologic malignancies but also in subsequent monitor of minimal residual leukemia.

  5. Sorting nexin 3 (SNX3) is disrupted in a patient with a translocation t(6;13)(q21;q12) and microcephaly, microphthalmia, ectrodactyly, prognathism (MMEP) phenotype

    OpenAIRE

    Vervoort, V; Viljoen, D; Smart, R.; Suthers, G; Dupont, B.; Abbott, A.; Schwartz, C.

    2002-01-01

    A patient with microcephaly, microphthalmia, ectrodactyly, and prognathism (MMEP) and mental retardation was previously reported to carry a de novo reciprocal t(6;13)(q21;q12) translocation. In an attempt to identify the presumed causative gene, we mapped the translocation breakpoints using fluorescence in situ hybridisation (FISH). Two overlapping genomic clones crossed the breakpoint on the der(6) chromosome, locating the breakpoint region between D6S1594 and D6S1250. Southern blot analysis...

  6. Development and characterization of wheat-Ae. searsii Robertsonian translocations and a recombinant chromosome conferring resistance to stem rust.

    Science.gov (United States)

    Liu, Wenxuan; Jin, Yue; Rouse, Matthew; Friebe, Bernd; Gill, Bikram; Pumphrey, Michael O

    2011-05-01

    The emergence of a new highly virulent race of stem rust (Puccinia graminis tritici), Ug99, rapid evolution of new Ug99 derivative races overcoming resistance of widely deployed genes, and spread towards important wheat growing areas now potentially threaten world food security. Exploiting novel genes effective against Ug99 from wild relatives of wheat is one of the most promising strategies for the protection of the wheat crop. A new source of resistance to Ug99 was identified in the short arm of the Aegilops searsii chromosome 3S(s) by screening wheat- Ae. searsii introgression libraries available as individual chromosome and chromosome arm additions to the wheat genome. For transferring this resistance gene into common wheat, we produced three double-monosomic chromosome populations (3A/3S(s), 3B/3S(s) and 3D/3S(s)) and then applied integrated stem rust screening, molecular maker analysis, and cytogenetic analysis to identify resistant wheat-Ae. searsii Robertsonian translocation. Three Robertsonian translocations (T3AL·3S(s)S, T3BL·3S(s)S and T3DL·3S(s)S) and one recombinant (T3DS-3S(s)S·3S(s)L) with stem rust resistance were identified and confirmed to be genetically compensating on the basis of genomic in situ hybridization, analysis of 3A, 3B, 3D and 3S(s)S-specific SSR/STS-PCR markers, and C-banding. In addition, nine SSR/STS-PCR markers of 3S(s)S-specific were developed for marker-assisted selection of the resistant gene. Efforts to reduce potential linkage drag associated with 3S(s)S of Ae. searsii are currently under way. PMID:21347655

  7. Extra skeletal Soft Tissue Ewing’s Sarcoma with Variant Translocation of Chromosome t (4; 22) (q35; q12)-A Case Report

    Science.gov (United States)

    Nagaraj, Prashanth; H, Srinivas C; Rao, Raghavendra; Manohar, Sandesh

    2013-01-01

    Introduction: Ewing’s sarcomas is a rare primitive neuroectodermal tumour (PNET) which has an annual incidence of 2.9 /million population in USA 1Jeffery Toretsky et al (2008) They are very uncommon in African and Asian population. It is commonly associated with reciprocal translocation between chromosome 11 and 12 t (11:12) or less frequently the t(21;22)(q22;ql 2) translocation. It is highly aggressive tumor which is PAS- and CD99 (MIC2)-positive relatively few variant translocations have been reported in primary Ewing’s sarcomas (ES). Case Report: We are hereby presenting a case of extra skeletal soft tissue Ewing’s sarcoma with unusual translocation of chromosome t (4, 22) (q35, q12). Patient presented to us in advanced stage with pulmonary metastasis and lower limb neurological deficit. Relatively few variant translocations have been reported in primary Ewing’s sarcomas (ES). To date, 13 variants of the EWS fusion gene have been described in literature. They are extremely rare, representing altogether < 1% of the cases’ 23we are reporting a case of a variant simple translocation of chromosome t (4; 22) (q35;1 2). In our exhaustive literature search we could find only one case of complex translocation which was identified in a dysmorphic 15-year-old girl, t (4:11; 22)(q21; q24; q12) reported by Squire Jet al (1993). Conclusion: This type of translocation is extremely rare and has not been reported in the literature so far. Clinical presentation was initial indolent but later at the time patient presented to our institute he had developed pulmonary metastases and paraplegia due to involvement of spine. Our case report will provide new insight about rare translocation types in Ewing’s sarcoma and understand their clinical behavior of Ewing’s sarcoma with such type of translocation. PMID:27298923

  8. The structure-specific nicking of small heteroduplexes by the RAG complex: implications for lymphoid chromosomal translocations.

    Science.gov (United States)

    Raghavan, Sathees C; Gu, Jiafeng; Swanson, Patrick C; Lieber, Michael R

    2007-06-01

    During V(D)J recombination, the RAG complex binds at recombination signal sequences and creates double-strand breaks. In addition to this sequence-specific recognition of the RSS, the RAG complex has been shown to be a structure-specific nuclease, cleaving 3' overhangs and 3' flaps, and, more recently, 10 nucleotides (nt) bubble (heteroduplex) structures. Here, we assess the smallest size heteroduplex that core and full-length RAGs can cleave. We also test whether bubbles adjacent to a partial RSS are nicked any differently or any more efficiently than bubbles that are surrounded by random sequence. These points are important in considering what types and what size of non-B DNA structure that the RAG complex can nick, and this helps assess the role of the RAG complex in mediating lymphoid chromosomal translocations. We find that the smallest bubble nicked by the RAG complex is 3nt, and proximity to a partial or full RSS sequence does not affect the nicking by RAGs. RAG nicking efficiency increases with the size of the heteroduplex and is only about two-fold less efficient than an RSS when the bubble is 6nt. We consider these findings in the context of RAG nicking at non-B DNA structures in lymphoid chromosomal translocations. PMID:17307402

  9. Different regions of the immunoglobulin heavy-chain locus are involved in chromosomal translocations in distinct pathogenic forms of Burkitt lymphoma

    Energy Technology Data Exchange (ETDEWEB)

    Neri, A.; Barriga, F.; Knowles, D.M.; Magrath, I.T.; Dalla-Favera, R.

    1988-04-01

    The authors show that endemic (eBL), sporadic (sBL), and acquired immunodeficiency syndrome-associated (AIDS-BL) forms of Burkitt lymphoma (BL) carrying t(8; 14) chromosomal translocations display different breakpoints within the immunoglobulin heavy-chain locus (IGH) on chromosome 14. In sBL (7 out of 11) and AIDS-BL (5 out of 6), the breakpoints occurred within or near the IGH ..mu.. switch (S/sub mu/) region on chromosome 14 and within the c-myc locus (MYC) on chromosome 8. In most eBL (13 out of 16) the breakpoints were mapped within or 5' to the IGH joining J/sub H/ region on chromosome 14 and outside the MYC locus on chromosome 8. Cloning and sequencing of the (8; 14) chromosomal junctions from two eBL cell lines and one eBL biopsy sample show that the recombination do not involve IGH-specific recombination signals on chromosome 14 or homologous sequences on chromosome 8, suggesting that these events are not likely to be mediated by the same mechanisms or enzymes as in IGH rearrangements. In general, these data have implications for the timing of occurrence of chromosomal translocations during B-cell differentiation in different BL types.

  10. Chondromyxoid fibroma of rib with a novel chromosomal translocation: a report of four additional cases at unusual sites

    Directory of Open Access Journals (Sweden)

    Parwani Anil V

    2007-11-01

    Full Text Available Abstract Background Chondromyxoid fibromas (CMFs are rare benign chondroid/myxoid matrix-producing tumors that occur in metaphyses of long tubular bones, and very rarely in small bones of hands and feet. Flat bone involvement is even more uncommon. Prior cytogenetic analyses have identified complex abnormalities involving chromosome 6 in the majority of cases. Methods A search for CMF over an 8-year period (1999–2006 from the surgical pathology files of our institution yielded 16 cases. Four cases occurred in relatively unusual regions, three from the small bones of distal extremities and one from the rib. The rib lesion wassubmitted forroutinecytogenetic analysis. Results Radiographic studies revealed that all four lesions were well-defined expansile radiolucent lesions which expanded the bony cortices with lobulated margins, sclerotic rim, septation, and no calcification. Morphologically, all four lesions showed typical features of CMF and had low proliferative index with Ki-67. Cytogenetic analysis on the rib lesion revealed a novel chromosomal translocation, t(1;5(p13;p13. None of the four patients had a recurrence after a mean duration of follow-up of 24 months. Conclusion CMF originating in unusual locations should be distinguished from chondrosarcomas, especially on small biopsies, and should be included in the differential diagnosis. As previously noted in the literature, the cells can be positive for actin but unlike conventional chondroid neoplasms can be negative for S-100. To our knowledge, this is the first report describing a novel chromosomal translocation, t(1;5(p13;p13 in CMF.

  11. A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation

    DEFF Research Database (Denmark)

    Kalscheuer, Vera M; Musante, Luciana; Fang, Cheng;

    2009-01-01

    , which we now show binds phosphatidylinositol-3-phosphate (PI3P/PtdIns-3-P), a phosphoinositide with an emerging role in membrane trafficking and signal transduction, rather than phosphatidylinositol 3,4,5-trisphosphate (PIP3/PtdIns-3,4,5-P) as previously suggested in the "membrane activation model" of...... gephyrin clustering. Consistent with this finding, expression of truncated collybistin proteins in cultured neurons interferes with synaptic localization of endogenous gephyrin and GABA(A) receptors. These results suggest that collybistin has a key role in membrane trafficking of gephyrin and selected GABA...

  12. Cytogenetic and molecular identification of small-segment chromosome translocation lines from wheat-rye substitution lines to create wheat germplasm with beneficial traits

    OpenAIRE

    Song, Wei-Fu; Ding, Hai-Yan; Zhang, Xiao-Mei; Li, Ji-Lin; Xiao, Zhi-Min; Xin, Wen-Li; Song, Qing-Jie; Zhao, Hai-Bin; Zhang, Yan-bin; Zhang, Chun-Li

    2014-01-01

    ABSTRACT Intergeneric crop plant hybrid lines with small-segment chromosome translocations are very useful in plant genetic research and breeding. In this study, to create small-segment chromosome translocations with beneficial agronomic characters, the progeny of wheat-rye substitution lines 5R/5A and 6R/6A were selected from generations F2 to F5 for rye-specific characteristics. A PCR primer and specific simple sequence repeat marker for rye were used in F5 populations to detect rye chromat...

  13. The tumor suppressor gene TRC8/RNF139 is disrupted by a constitutional balanced translocation t(8;22(q24.13;q11.21 in a young girl with dysgerminoma

    Directory of Open Access Journals (Sweden)

    Fiorio Patrizia

    2009-07-01

    Full Text Available Abstract Background RNF139/TRC8 is a potential tumor suppressor gene with similarity to PTCH, a tumor suppressor implicated in basal cell carcinomas and glioblastomas. TRC8 has the potential to act in a novel regulatory relationship linking the cholesterol/lipid biosynthetic pathway with cellular growth control and has been identified in families with hereditary renal (RCC and thyroid cancers. Haploinsufficiency of TRC8 may facilitate development of clear cell-RCC in association with VHL mutations, and may increase risk for other tumor types. We report a paternally inherited balanced translocation t(8;22 in a proposita with dysgerminoma. Methods The translocation was characterized by FISH and the breakpoints cloned, sequenced, and compared. DNA isolated from normal and tumor cells was checked for abnormalities by array-CGH. Expression of genes TRC8 and TSN was tested both on dysgerminoma and in the proposita and her father. Results The breakpoints of the translocation are located within the LCR-B low copy repeat on chromosome 22q11.21, containing the palindromic AT-rich repeat (PATRR involved in recurrent and non-recurrent translocations, and in an AT-rich sequence inside intron 1 of the TRC8 tumor-suppressor gene at 8q24.13. TRC8 was strongly underexpressed in the dysgerminoma. Translin is underexpressed in the dysgerminoma compared to normal ovary. TRC8 is a target of Translin (TSN, a posttranscriptional regulator of genes transcribed by the transcription factor CREM-tau in postmeiotic male germ cells. Conclusion A role for TRC8 in dysgerminoma may relate to its interaction with Translin. We propose a model in which one copy of TRC8 is disrupted by a palindrome-mediated translocation followed by complete loss of expression through suppression, possibly mediated by miRNA.

  14. Novel Integrated Lab-on-Chip System for Chromosome Translocations Analysis

    DEFF Research Database (Denmark)

    Svendsen, Winnie Edith; Lange, Jacob Moresco; Shah, Pranjul Jaykumar;

    2009-01-01

    This presentation will focus on the development of a chromosome total analysis system (C-TAS) starting from the design strategy and simulations to the integration into a final monolithic plug and play device. Individual modules which perform the sample preprocessing and analysis tasks like - cell...... isolation, cell culture, cell lysing, chromosome extraction and Fluorescence In-Situ Hybridization will be presented. How we solved connecting the individual chips and adjusting the microfluidic flows, by using simulations will be discussed....

  15. Correlation between missed abortion and insertional translocation involving chromosomes 1 and 7

    OpenAIRE

    Ahmed Husseiny; Neveen Ashaat

    2012-01-01

    Background: Missed abortion (Silent miscarriage) is defined as intrauterine fetal death before twenty weeks gestation. One of the most common causes of early missed abortions (before 10 weeks gestation) is cytogenetic abnormalities. Objective: To asses if there is a correlation between chromosomal aberrations (especially in chromosome 7) and missed abortion among at least two generations. Materials and Methods: After exclusion of direct causes of missed abortion, this study included 60 women ...

  16. 基因位置与肿瘤染色体易位的关系%Relationship between gene positioning and chromosomal translocation in cancer

    Institute of Scientific and Technical Information of China (English)

    郑杰; 洪泽辉

    2012-01-01

    Chromosomal translocations are very common in human cancer. The molecular mechanisms of chromosomal translocations are complex and unclear. Recent studies show that the organization of genomes is higher-order in the nucleus and every chromosome or chromatin has its preferential position and territory. Intermingling of chromosome territories in interphase maintains the transcriptional networks of genes. The spatial arrangements of chromosomes and gene loci in the interphase nucleus are responsible for nonrandom chromosomal translocations in human cancer. Chromosomal translocations are favored in neighbor chromosomes or genes in spatial proximity within the nucleus. These findings may lead to new approaches in early diagnosis and target therapy of cancer.%染色体易位在肿瘤中很常见,但其发生的分子机制复杂,目前尚未完全阐明.近年的研究显示,细胞核基因组的组织结构是高度有序的,每条染色体或染色质都有自己的位置和领地,它们相互交错,共同维持着基因转录网.肿瘤细胞染色体易位的非随机性被认为与间期核内染色体或基因的空间位置密切相关.染色体易位通常发生在核内邻近的染色体或空间位置接近的基因.这些发现对肿瘤的早期诊断和靶向治疗具有重要意义.

  17. RAG-dependent recombination at cryptic RSSs within TEL–AML1 t(12;21)(p13;q22) chromosomal translocation region

    OpenAIRE

    Numata, Masashi; Saito, Shoko; Nagata, Kyosuke

    2010-01-01

    The recombination activating gene (RAG) is a lymphoid-specific endonuclease involved in the V(D)J recombination. It has long been proposed that mis-targeting of RAG proteins is one of the factors contributing to lymphoid chromosomal translocation bearing authentic recombination signal sequences (RSSs) in immunoglobulin (Ig) and T cell receptor (TCR) gene loci or cryptic RSSs (cRSSs). However, it is unclear whether primary sequence-dependent targeting mistake involved in the chromosomal transl...

  18. West syndrome associated with a novel chromosomal anomaly; partial trisomy 8P together with partial monosomy 9P, resulting from a familial unbalanced reciprocal translocation

    OpenAIRE

    Ilknur Erol; Semra Saygi; Senay Demir; Fusun Alehan; Feride Iffet Sahin

    2015-01-01

    West syndrome is classified according to the underlying etiology into an acquired West syndrome, a congenital/developmental West syndrome, and West syndrome of unknown etiology. Causes of a congenital/developmental West syndrome are extensive and include chromosomal anomalies. We report on a patient carrying a derivative chromosome originating from the reciprocal unbalanced translocation t (8;9) (p11.2;p22) and presenting with macrocephaly, West syndrome, severe mental motor retardation and h...

  19. Correlation between missed abortion and insertional translocation involving chromosomes 1 and 7

    Directory of Open Access Journals (Sweden)

    Ahmed Husseiny

    2012-01-01

    Full Text Available Background: Missed abortion (Silent miscarriage is defined as intrauterine fetal death before twenty weeks gestation. One of the most common causes of early missed abortions (before 10 weeks gestation is cytogenetic abnormalities. Objective: To asses if there is a correlation between chromosomal aberrations (especially in chromosome 7 and missed abortion among at least two generations.Materials and Methods: After exclusion of direct causes of missed abortion, this study included 60 women (the study group who had first trimestric missed abortion and 30 healthy women who did not suffer from any diseases during their pregnancy and had apparently normal outcome (the control group. All cases were diagnosed; the blood and tissue samples were collected from the mothers and abortuses from the Department of Obstetrics and Gynecology, Maternity Hospital, Ain Shams University. Cytogenetic analyses were performed by using conventional technique and G/T banding techniques and Fluorescence In Situ Hybridization (FISH analysis with a whole chromosome 7 painting probe (WCP7 and a 7q subterminal probe (7q36, qter, prepared by chromosome micro dissection technique was used for confirming the specific chromosomal abnormality.

  20. A driving and coupling “Pac-Man” mechanism for chromosome poleward translocation in anaphase A

    OpenAIRE

    Liu, Jian; Onuchic, José N.

    2006-01-01

    During mitosis, chromatid harnesses its kinetochore translocation at the depolymerizing microtubule ends for its poleward movement in anaphase A. The force generation mechanism for such movement remains unknown. Analysis of the current experimental results shows that the bending energy release from the bound tubulin subunits alone cannot provide sufficient driving force. Additional contribution from effective electrostatic attractions between the kinetochore and the microtubule is needed for ...

  1. Chronic Myeloid Leukemia with Variant Chromosomal Translocations: Results of Treatment with Imatinib Mesylate

    Directory of Open Access Journals (Sweden)

    Rohan Bhise

    2013-01-01

    Full Text Available Objective: To evaluate the efficacy of imatinib in chronic myeloid leukemia patients with variant translocations. Methods: Forty eight chronic myeloid leukemia patients carrying variant translocations and treated with imatinib at our institute were considered for the study. Survival and response rates were evaluated. Results: The median follow up was 48 months(m. Forty three (89.58% patients achieved complete hematologic response. Thirty one (64.58% patients achieved complete cytogenetic response and 19(39.58% achieved major molecular response anytime during their follow up period. Only 18.75% of the patients achieved complete cytogenetic response and major molecular response within the stipulated time frames.The estimated overall survival at 48 m median follow up was 81.2%.The progression free survival was also 81.2% and the event free survival was 79.1%.There was no significant survival difference between low vs intermediate and high risk sokal group. Conclusion: We report suboptimal responses to imatinib in chronic myeloid leukemia with variant translocations. Further studies with imatinib and the newer more active drugs dasatinib and nilotinib are justified.

  2. Missense Mutations Allow a Sequence-Blind Mutant of SpoIIIE to Successfully Translocate Chromosomes during Sporulation.

    Science.gov (United States)

    Bose, Baundauna; Reed, Sydney E; Besprozvannaya, Marina; Burton, Briana M

    2016-01-01

    SpoIIIE directionally pumps DNA across membranes during Bacillus subtilis sporulation and vegetative growth. The sequence-reading domain (γ domain) is required for directional DNA transport, and its deletion severely impairs sporulation. We selected suppressors of the spoIIIEΔγ sporulation defect. Unexpectedly, many suppressors were intragenic missense mutants, and some restore sporulation to near-wild-type levels. The mutant proteins are likely not more abundant, faster at translocating DNA, or sequence-sensitive, and rescue does not involve the SpoIIIE homolog SftA. Some mutants behave differently when co-expressed with spoIIIEΔγ, consistent with the idea that some, but not all, variants may form mixed oligomers. In full-length spoIIIE, these mutations do not affect sporulation, and yet the corresponding residues are rarely found in other SpoIIIE/FtsK family members. The suppressors do not rescue chromosome translocation defects during vegetative growth, indicating that the role of the γ domain cannot be fully replaced by these mutations. We present two models consistent with our findings: that the suppressors commit to transport in one arbitrarily-determined direction or delay spore development. It is surprising that missense mutations somehow rescue loss of an entire domain with a complex function, and this raises new questions about the mechanism by which SpoIIIE pumps DNA and the roles SpoIIIE plays in vivo. PMID:26849443

  3. Osteoclast nuclei of myeloma patients show chromosome translocations specific for the myeloma cell clone: a new type of cancer-host partnership?

    DEFF Research Database (Denmark)

    Levin Andersen, Thomas; Boissy, Patrice; Sondergaard, T E;

    2007-01-01

    study demonstrates that bone-resorbing osteoclasts from myeloma patients contain nuclei with translocated chromosomes of myeloma B-cell clone origin, in addition to nuclei without these translocations, by using combined FISH and immunohistochemistry on bone sections. These nuclei of malignant origin are...... proximity of myeloma cells. Similar hybrid cells were generated in myeloma cell-osteoclast co-cultures, as revealed by tracing myeloma nuclei using translocations, bromo-deoxyuridine, or the Y chromosome of male myeloma cells in female osteoclasts. These observations indicate that hybrid cells can originate......A major clinical manifestation of bone cancers is bone destruction. It is widely accepted that this destruction is not caused by the malignant cells themselves, but by osteoclasts, multinucleated cells of monocytic origin that are considered to be the only cells able to degrade bone. The present...

  4. 用FISH技术分析一例表型异常的 染色体平衡易位%Analysis of a case of balanced chromosome translocation and phenotypic abnormality by fluorescence in situ hybridization

    Institute of Scientific and Technical Information of China (English)

    2001-01-01

    Objective  To delineate the chromosome structural aberration in a case of chromosome translocation by fluorescence in situ hybridization(FISH) technique and precisely identify the breakpoints. Methods  The whole chromosome point 5(wcp5) and locus-specific probes derived from yeast artificial chromosomes(YACs) mapping the nearby region of breakpoints were used to delineate the translocation t(5;10) found by high resolution G-banding examination in a case with congenital abnormality. Results A balanced translocation was confirmed and the breakpoints were located in the 1.5 Mb area on chromosome 5 and within the approximately 3 Mb interval on chromosome 10. Conclusion  The phenotypic abnormality might result from the disruption of disease-associated gene(s) or microrearrangement(s) on the site of breakpoint(s).%目的应用荧光原位杂交技术对1例染色体结构异常患者进行分析,阐明结构异常性质,并精细定位断点。方法对一先天表型异常经细胞遗传学检查有t(5;10)的病例,分别选用5号染色体探针池以及用酵母人工染色体作为DNA来源制备的断点区位点特异性探针,进行荧光染色体原位杂交。结果证实患者染色体异常属平衡易位,并将5号和10号染色体的断点分别定位到1.5 Mb及约3 Mb的范围。结论患者的先天性表型异常可能由断点处染色体细微重排或致病基因断裂所致。

  5. West syndrome associated with a novel chromosomal anomaly; partial trisomy 8P together with partial monosomy 9P, resulting from a familial unbalanced reciprocal translocation

    Directory of Open Access Journals (Sweden)

    Ilknur Erol

    2015-01-01

    Full Text Available West syndrome is classified according to the underlying etiology into an acquired West syndrome, a congenital/developmental West syndrome, and West syndrome of unknown etiology. Causes of a congenital/developmental West syndrome are extensive and include chromosomal anomalies. We report on a patient carrying a derivative chromosome originating from the reciprocal unbalanced translocation t (8;9 (p11.2;p22 and presenting with macrocephaly, West syndrome, severe mental motor retardation and hypotonia. As far as we know, this is a new chromosomal anomaly associated with West syndrome.

  6. Enhanced Muscular Dystrophy from Loss of Dysferlin Is Accompanied by Impaired Annexin A6 Translocation after Sarcolemmal Disruption.

    Science.gov (United States)

    Demonbreun, Alexis R; Allen, Madison V; Warner, James L; Barefield, David Y; Krishnan, Swathi; Swanson, Kaitlin E; Earley, Judy U; McNally, Elizabeth M

    2016-06-01

    Dysferlin is a membrane-associated protein implicated in membrane resealing; loss of dysferlin leads to muscular dystrophy. We examined the same loss-of-function Dysf mutation in two different mouse strains, 129T2/SvEmsJ (Dysf(129)) and C57BL/6J (Dysf(B6)). Although there are many genetic differences between these two strains, we focused on polymorphisms in Anxa6 because these variants were previously associated with modifying a pathologically distinct form of muscular dystrophy and increased the production of a truncated annexin A6 protein. Dysferlin deficiency in the C57BL/6J background was associated with increased Evan's Blue dye uptake into muscle and increased serum creatine kinase compared to the 129T2/SvEmsJ background. In the C57BL/6J background, dysferlin loss was associated with enhanced pathologic severity, characterized by decreased mean fiber cross-sectional area, increased internalized nuclei, and increased fibrosis, compared to that in Dysf(129) mice. Macrophage infiltrate was also increased in Dysf(B6) muscle. High-resolution imaging of live myofibers demonstrated that fibers from Dysf(B6) mice displayed reduced translocation of full-length annexin A6 to the site of laser-induced sarcolemmal disruption compared to Dysf(129) myofibers, and impaired translocation of annexin A6 associated with impaired resealing of the sarcolemma. These results provide one mechanism by which the C57BL/6J background intensifies dysferlinopathy, giving rise to a more severe form of muscular dystrophy in the Dysf(B6) mouse model through increased membrane leak and inflammation. PMID:27070822

  7. Lethal osteochondrodysplasia and de novo autosomal translocation involving the long arm of chromosome 4

    Energy Technology Data Exchange (ETDEWEB)

    Fryns, J.P.; Legius, E.; Van den Berghe, H.; Moerman, P. [Center for Human Genetics, Leuven (Belgium); Vandenberghe, K. [Univ. of Leuven (Belgium); Maroteaux, P. [Hopital des Enfants Malades, Paris (France)

    1994-06-01

    Recently, we diagnosed a de noco t(4q;11q) with apparent breakpoints at 4q23 and 11q13 [karyotype: 46,XX,t(4;11)(q23;q13)] in a first trimester female fetus with a lethal chondrodysplasia. After the observation reported by Urioste et al. (1994) the presena finding of a de novo autosomal translocation with one breakpoint in the proximal part of 4q in another fetus with lethal osteochondrodysplasia may be a further indication toward the possible location of a gene cluster in this autosomal region. 1 ref.

  8. Supernumerary Chromosome Marker Der(22)t(11;22) Resulting from a Maternal Balanced Translocation

    OpenAIRE

    Jia-Woei Hou

    2003-01-01

    Derivative 22 [der(22)] syndrome is a rare disorder associated with multiple congenitalanomalies including pre-auricular skin tags or pits, conotruncal heart defects, and profoundmental retardation. Der(22)t(11;22) is one of the causes of supernumerary chromosomemarkers (mar) in humans. We present a boy with developmental delay and multiple anomaliesconsistent with the supernumerary der(22) syndrome. Cytogenetic analysis showed anabnormal chromosome complement of 47, XY, +mar in all 50 cells ...

  9. Association of Chromosomal Translocation and MiRNA Expression with The Pathogenesis of Multiple Myeloma

    OpenAIRE

    Najmaldin Saki; Saeid Abroun,; Saeideh Hajizamani; Fakher Rahim; Mohammad Shahjahani

    2014-01-01

    Multiple myeloma (MM), is the second most common blood cancer after non-Hodgkin’s lymphoma. Genetic changes, structural and numerical chromosome anomalies, are involved in pathogenesis of MM, and are among the most important prognostic factors of disease-associated patient survival. MicroRNAs (miRNAs) are small 19-22 nucleotide single-stranded RNAs involved in important cellular processes. Cytogenetic changes in plasma cells alter miRNA expression and function. MiRNAs act as tumor suppressors...

  10. Unbalanced three-way chromosomal translocation leading to deletion 18q and duplication 20p.

    Science.gov (United States)

    Oegema, Renske; van Zutven, Laura J C M; van Hassel, Daniella A C M; Huijbregts, Guido C M; Hoogeboom, A Jeannette M

    2012-04-01

    In 1980, a case report on a boy with cleft palate, club feet, dysmorphic features, and developmental delay was published by Bijlsma as a possible distinct syndrome. This case is listed in the London Medical Databases version 1.0. We have reevaluated this patient at adult age. Using high resolution karyotyping and Affymetrix 250k SNP array analysis we identified an unbalanced three-way translocation with breakpoints at 17q22, 18q22.1, and 20p12.2 leading to deletion 18q and duplication 20p. Also, a 715 kb duplication in 1p34.2 and a 245 kb deletion at 1p21.1 were found. Mental retardation, cleft palate, and club feet have repeatedly been reported in deletion 18q patients and therefore we conclude that most of the patient's features can be explained by an 18q deletion. PMID:22406089

  11. A recurrent chromosome translocation breakpoint in breast and pancreatic cancer cell lines targets the neuregulin/NRG1 gene.

    Science.gov (United States)

    Adélaïde, José; Huang, Huai-En; Murati, Anne; Alsop, Amber E; Orsetti, Béatrice; Mozziconacci, Marie-Joëlle; Popovici, Cornel; Ginestier, Christophe; Letessier, Anne; Basset, Céline; Courtay-Cahen, Céline; Jacquemier, Jocelyne; Theillet, Charles; Birnbaum, Daniel; Edwards, Paul A W; Chaffanet, Max

    2003-08-01

    The 8p11-21 region is a frequent target of alterations in breast cancer and other carcinomas. We surveyed 34 breast tumor cell lines and 9 pancreatic cancer cell lines for alterations of this region by use of multicolor fluorescence in situ hybridization (M-FISH) and BAC-specific FISH. We describe a recurrent chromosome translocation breakpoint that targets the NRG1 gene on 8p12. NRG1 encodes growth factors of the neuregulin/heregulin-1 family that are ligands for tyrosine kinase receptors of the ERBB family. Breakpoints within the NRG1 gene were found in four of the breast tumor cell lines: ZR-75-1, in a dic(8;11); HCC1937, in a t(8;10)(p12;p12.1); SUM-52, in an hsr(8)(p12); UACC-812, in a t(3;8); and in two of the pancreatic cancer cell lines: PaTu I, in a der(8)t(4;8); and SUIT-2, in a del(8)(p). Mapping by two-color FISH showed that the breaks were scattered over 1.1 Mb within the NRG1 gene. It is already known that the MDA-MB-175 breast tumor cell line has a dic(8;11), with a breakpoint in NRG1 that fuses NRG1 to the DOC4 gene on 11q13. Thus, we have found a total of seven breakpoints, in two types of cancer cell lines, that target the NRG1 gene. This suggests that the NRG1 locus is a recurring target of translocations in carcinomas. PCR analysis of reverse-transcribed cell line RNAs revealed an extensive complexity of the NRG1 transcripts but failed to detect a consistent pattern of mRNA isoforms in the cell lines with NRG1 breakpoint. PMID:12800145

  12. Do Non-Genomically Encoded Fusion Transcripts Cause Recurrent Chromosomal Translocations?

    International Nuclear Information System (INIS)

    We among others have recently demonstrated that normal cells produce “fusion mRNAs”. These fusion mRNAs do not derive from rearranged genomic loci, but rather they are derived from “early-terminated transcripts” (ETTs). Premature transcriptional termination takes place in intronic sequences that belong to “breakpoint cluster regions”. One important property of ETTs is that they exhibit an unsaturated splice donor site. This results in: (1) splicing to “cryptic exons” present in the final intron; (2) Splicing to another transcript of the same gene (intragenic trans-splicing), resulting in “exon repetitions”; (3) splicing to a transcript of another gene (intergenic trans-splicing), leading to “non-genomically encoded fusion transcripts” (NGEFTs). These NGEFTs bear the potential risk to influence DNA repair processes, since they share identical nucleotides with their DNA of origin, and thus, could be used as “guidance RNA” for DNA repair processes. Here, we present experimental data about four other genes. Three of them are associated with hemato-malignancies (ETV6, NUP98 and RUNX1), while one is associated with solid tumors (EWSR1). Our results demonstrate that all genes investigated so far (MLL, AF4, AF9, ENL, ELL, ETV6, NUP98, RUNX1 and EWSR1) display ETTs and produce transpliced mRNA species, indicating that this is a genuine property of translocating genes

  13. Do Non-Genomically Encoded Fusion Transcripts Cause Recurrent Chromosomal Translocations?

    Energy Technology Data Exchange (ETDEWEB)

    Kowarz, Eric; Dingermann, Theo; Marschalek, Rolf, E-mail: Rolf.Marschalek@em.uni-frankfurt.de [Institute of Pharmaceutical Biology/ZAFES/DCAL, Goethe-University of Frankfurt, Biocenter, Max-von-Laue-Str. 9, D-60438 Frankfurt/Main (Germany)

    2012-10-18

    We among others have recently demonstrated that normal cells produce “fusion mRNAs”. These fusion mRNAs do not derive from rearranged genomic loci, but rather they are derived from “early-terminated transcripts” (ETTs). Premature transcriptional termination takes place in intronic sequences that belong to “breakpoint cluster regions”. One important property of ETTs is that they exhibit an unsaturated splice donor site. This results in: (1) splicing to “cryptic exons” present in the final intron; (2) Splicing to another transcript of the same gene (intragenic trans-splicing), resulting in “exon repetitions”; (3) splicing to a transcript of another gene (intergenic trans-splicing), leading to “non-genomically encoded fusion transcripts” (NGEFTs). These NGEFTs bear the potential risk to influence DNA repair processes, since they share identical nucleotides with their DNA of origin, and thus, could be used as “guidance RNA” for DNA repair processes. Here, we present experimental data about four other genes. Three of them are associated with hemato-malignancies (ETV6, NUP98 and RUNX1), while one is associated with solid tumors (EWSR1). Our results demonstrate that all genes investigated so far (MLL, AF4, AF9, ENL, ELL, ETV6, NUP98, RUNX1 and EWSR1) display ETTs and produce transpliced mRNA species, indicating that this is a genuine property of translocating genes.

  14. Association of Chromosomal Translocation and MiRNA Expression with The Pathogenesis of Multiple Myeloma

    Directory of Open Access Journals (Sweden)

    Najmaldin Saki

    2014-06-01

    Full Text Available Multiple myeloma (MM, is the second most common blood cancer after non-Hodgkin’s lymphoma. Genetic changes, structural and numerical chromosome anomalies, are involved in pathogenesis of MM, and are among the most important prognostic factors of disease-associated patient survival. MicroRNAs (miRNAs are small 19-22 nucleotide single-stranded RNAs involved in important cellular processes. Cytogenetic changes in plasma cells alter miRNA expression and function. MiRNAs act as tumor suppressors and oncogenes by affecting intracellular signaling pathways. MiRNA expression is associated with a specific genetic change and may assist with diagnosis and disease prognosis. This study aims to evaluate recent findings in MM-associated cytogenetic changes and their relationship with changes in the expression of miRNAs. We have determined that MM-associated cytogenetic changes are related to changes in the expression of miRNAs and CD markers (cluster of differentiation are associated with disease survival. Information about these changes can be used for therapeutic purposes and disease prognosis.

  15. First-Trimester Combined Screening Is Effective for the Detection of Unbalanced Chromosomal Translocations at 11 to 12 Weeks of Gestation

    OpenAIRE

    Huang, ShangYu; Chang, Chialin; Cheng, PoJen; Hsiao, ChingHua; Soong, YungKuei; Duan, Tao

    2014-01-01

    The first trimester combined screening, which analyzes fetal nuchal translucency and levels of free β-human chorionic gonadotropin (β-hCG) and pregnancy-associated plasma protein A (PAPP-A) in maternal serum, is routinely used to detect abnormal pregnancies associated with Down syndrome and other trisomy aneuploidies. Based on the hypothesis that major chromosomal translocations could lead to similar biochemical and developmental outcomes during early embryo development, we compared these mar...

  16. Are submicroscopic chromosomal inversions predisposing factors for the t(9;22)(q34;q11.2) translocation in chronic myeloid leukemia?

    OpenAIRE

    González García, Juan Ramón; Cruz, Martín Daniel Domínguez; Gutiérrez, César Borjas

    2015-01-01

    A complex chromosomal rearrangement observed in a patient with chronic myeloid leukemia was explained as the consequence of a multistep process. The explanation involved an initial t(9;22) translocation with breakpoints distant from the BCR and ABL1 genes followed by genomic deletions that produced the BCR-ABL1 hybrid gene. We present an alternative model that fits the origin of the patient’s rearrangement better. The present model links submicroscopic inversions with the occurrence of the t(...

  17. Cucurbitacin B inhibits human breast cancer cell proliferation through disruption of microtubule polymerization and nucleophosmin/B23 translocation

    Directory of Open Access Journals (Sweden)

    Duangmano Suwit

    2012-10-01

    Full Text Available Abstract Background Cucurbitacin B, an oxygenated tetracyclic triterpenoid compound extracted from the Thai medicinal plant Trichosanthes cucumerina L., has been reported to have several biological activities including anti-inflammatory, antimicrobial and anticancer. Cucurbitacin B is great of interest because of its biological activity. This agent inhibits growth of various types of human cancer cells lines. Methods In this study, we explored the novel molecular response of cucurbitacin B in human breast cancer cells, MCF-7 and MDA-MB-231. The growth inhibitory effect of cucurbitacin B on breast cancer cells was assessed by MTT assay. The effects of cucurbitacin B on microtubules morphological structure and tubulin polymerization were analyzed using immunofluorescence technique and tubulin polymerization assay kit, respectively. Proteomic analysis was used to identify the target-specific proteins that involved in cucurbitacin B treatment. Some of the differentially expressed genes and protein products were validated by real-time RT-PCR and western blot analysis. Cell cycle distributions and apoptosis were investigated using flow cytometry. Results Cucurbitacin B exhibited strong antiproliferative effects against breast cancer cells in a dose-dependent manner. We show that cucurbitacin B prominently alters the cytoskeletal network of breast cancer cells, inducing rapid morphologic changes and improper polymerization of the microtubule network. Moreover, the results of 2D-PAGE, real-time RT-PCR, and western blot analysis revealed that the expression of nucleophosmin/B23 and c-Myc decreased markedly after cucurbitacin B treatment. Immunofluorescence microscopy showed that cucurbitacin B induced translocation of nucleophosmin/B23 from the nucleolus to nucleoplasm. Treatment with cucurbitacin B resulted in cell cycle arrest at G2/M phase and the enhancement of apoptosis. Conclusions Our findings suggest that cucurbitacin B may inhibit the

  18. Delineation of chromosome translocations by fluorescence in situ hybridization%用荧光原位杂交技术显示染色体易位

    Institute of Scientific and Technical Information of China (English)

    朱冠山; Barts.,O

    2000-01-01

    目的:应用荧光原位杂交技术(fl uorescence in situ hybridization,FISH)对G显带提示有染色体易位的病例进行分析 ,阐明易位本质.方法:以定位于待研究染色体区段的酵母人工染色体(yeast artificialchromosome,YAC)作为DNA来源,采用DOP-PCR(degenerate oligonucl eotide-primed,PCR)方法制备荧光标记的位点特异性探针,进行染色体原位杂交.结果:两例经G显带未能明确显示的染色体结构异常,经FISH证实,一例为发生于11号染色体与13号染色体之间的平衡易位;另一例为发生于6号染色体与X染色体之间的不平衡易位.结论:FISH技术以其高度的灵敏性及特异性,成为常规染色体显带技术的一个重要补充,特别适用于对微小染色体结构重排以及染色体片段起源的阐明.%Objective:To delineate the G-banding-sug gested chromosome translocations by fluorescence in situ hybridization (FISH ) technique. Methods: Locus-specific probes, generated by degen erate oligonucleotide-primed PCR (DOP-PCR) technique from yeast artificial chr omosomes (YACs) mapping the regions in question, were used for FISH tests. Results: Among the 2 cases unresolved by G-banding, FISH confirm ed that one had a balanced translocation between chromosome 11 and chromosome 13 , the other had an unbalanced translocation between chromosome 6 and chromosome X.Conclusion: Because of its high sensitivity and specificity, FISH technique is a powerful adjunct to chromosome banding techniques, particula rly for the delineation of subtle chromosome rearrangement(s) and the origin of segment(s).

  19. Mutation of histone H3 serine 86 disrupts GATA factor Ams2 expression and precise chromosome segregation in fission yeast.

    Science.gov (United States)

    Lim, Kim Kiat; Ong, Terenze Yao Rui; Tan, Yue Rong; Yang, Eugene Guorong; Ren, Bingbing; Seah, Kwi Shan; Yang, Zhe; Tan, Tsu Soo; Dymock, Brian W; Chen, Ee Sin

    2015-01-01

    Eukaryotic genomes are packed into discrete units, referred to as nucleosomes, by organizing around scaffolding histone proteins. The interplay between these histones and the DNA can dynamically regulate the function of the chromosomal domain. Here, we interrogated the function of a pair of juxtaposing serine residues (S86 and S87) that reside within the histone fold of histone H3. We show that fission yeast cells expressing a mutant histone H3 disrupted at S86 and S87 (hht2-S86AS87A) exhibited unequal chromosome segregation, disrupted transcriptional silencing of centromeric chromatin, and reduced expression of Ams2, a GATA-factor that regulates localization of the centromere-specific histone H3 variant CENP-A. We found that overexpression of ams2(+) could suppress the chromosome missegregation phenotype that arose in the hht2-S86AS87A mutant. We further demonstrate that centromeric localization of SpCENP-A(cnp1-1) was significantly compromised in hht2-S86AS87A, suggesting synergism between histone H3 and the centromere-targeting domain of SpCENP-A. Taken together, our work presents evidence for an uncharacterized serine residue in fission yeast histone H3 that affects centromeric integrity via regulating the expression of the SpCENP-A-localizing Ams2 protein. [173/200 words]. PMID:26369364

  20. Translocações cromossômicas entre trigo e centeio: uma alternativa ao melhoramento Chromosomes translocations between wheat and rye: an alternative to plant breeding

    Directory of Open Access Journals (Sweden)

    Alice Casassola

    2011-08-01

    Full Text Available Translocações são rearranjos cromossômicos estruturais que envolvem segmentos cromossômicos de extensão variada pertencentes a cromossomos homólogos ou não homólogos. Tanto a ocorrência natural quanto a induzida de translocações tem possibilitado um avanço no melhoramento varietal, uma vez que esses segmentos translocados podem carregar genes de resistência a estresses bióticos e abióticos. O centeio é uma espécie da famíla Triticeae muito utilizada para transferência de genes para o trigo como, por exemplo, genes de resistência às ferrugens da folha e do colmo e também genes que favorecem o rendimento, tanto em quantidade como em qualidade de grãos. Assim, o objetivo deste artigo foi o de revisar as principais translocações envolvendo o trigo e o centeio, no qual se verificou, a partir dos dados analisados, que as translocações envolvendo os cromossomos 1 e 2 mostraram-se mais vantajosas para o rendimento de grãos em trigo e que as demais foram importantes, principalmente, na transferência de genes de resistência a estresses. Portanto, essa estratégia tem demonstrado efetividade na busca de novos genes que favorecem o cultivo de trigo e sua utilização vem crescendo grandemente nos últimos anos.Translocations are structural chromosomal rearrangements which involve segments with different length belonging to homologous or non homologous chromosomes. Either natural or induced occurrence of translocations have been enabled an improvement in the plant breeding, when these translocated segments carry resistance genes to biotic and abiotic stress. Rye is a grass largely used to transfer genes to wheat such as resistance genes to leaf rust, stem rust and genes that support the wheat yield, either in grain quantity or in quality. Thus, the aim of this paper was to review the main translocations involving wheat and rye, which demonstrated, from the data analyzed, that translocations involving chromosomes 1 and 2 were

  1. Mouse Af9 Is a Controller of Embryo Patterning, Like Mll, Whose Human Homologue Fuses with AF9 after Chromosomal Translocation in Leukemia

    OpenAIRE

    Collins, Emma C.; Appert, Alexandre; Ariza-McNaughton, Linda; Pannell, Richard; Yamada, Yoshihiro; Rabbitts, Terence H.

    2002-01-01

    Chromosomal translocation t(9;11)(p22;q23) in acute myeloid leukemia fuses the MLL and AF9 genes. We have inactivated the murine homologue of AF9 to elucidate its normal role. No effect on hematopoiesis was observed in mice with a null mutation of Af9. However, an Af9 null mutation caused perinatal lethality, and homozygous mice exhibited anomalies of the axial skeleton. Both the cervical and thoracic regions were affected by anterior homeotic transformation. Strikingly, mice lacking function...

  2. Genetic effects from radioactive isotopes. II.Chromosomal anomalies (translocations) induced by iodine 131 and strontium 89 in rats male germ cells

    International Nuclear Information System (INIS)

    Male sexually mature rats are treated intraperitoneally with a single dose of 3.5 μCi/g bodyweight of iodine-131 or 1.0 μCi/g bodyweight of strontium-89 in the form of aqueous sodium iodine, resp. strontium bichloride solution without carrier. Cytogenetic analysis is performed after six months on primordial spermatocytes in diakinesis metaphase I. The chromosomal translocations - 3/230 and 16/420 demonstrable in the gonadal cells of iodine-131, resp. strontium-89 - treated rats are a manifestation of severe damage to hereditary structures in gonadal cells of premeitic (spermatogonial) phase. (Ch.K.)

  3. A disseminated alveolar rhabdomyosarcoma in a 9-year-old boy disclosed by chromosomal translocation (2;13) (q35;q14)

    Science.gov (United States)

    Brichard, B; Ninane, J; Gosseye, S; Verellen-Dumoulin, C; Vermylen, C; Rodhain, J; Cornu, G

    1991-01-01

    A 9-year-old boy presented with a small subcutaneous tumor of the trunk and diffuse bone marrow involvement. The first histological diagnosis given was undifferentiated malignancy possibly of neural crest origin and chemotherapy was started immediately using vincristine, cyclophosphamide, cisplatin, and teniposide (OPEC). Complete response was achieved after four courses of chemotherapy. Histological slides were then reviewed and the final diagnosis of alveolar rhabdomyosarcoma (RMS) was retained. Moreover, chromosome analysis of malignant cells in the bone marrow revealed a translocation involving chromosomes 2 and 13:t(2;13) (q35;q14). This specific karyotype finding has been recently reported in a few cases and could be specific for alveolar RMS. The patient had a relapse 7 months after diagnosis and died 4 months later. PMID:1742179

  4. Multiple translocation of the AVR-Pita effector gene among chromosomes of the rice blast fungus Magnaporthe oryzae and related species.

    Directory of Open Access Journals (Sweden)

    Izumi Chuma

    2011-07-01

    Full Text Available Magnaporthe oryzae is the causal agent of rice blast disease, a devastating problem worldwide. This fungus has caused breakdown of resistance conferred by newly developed commercial cultivars. To address how the rice blast fungus adapts itself to new resistance genes so quickly, we examined chromosomal locations of AVR-Pita, a subtelomeric gene family corresponding to the Pita resistance gene, in various isolates of M. oryzae (including wheat and millet pathogens and its related species. We found that AVR-Pita (AVR-Pita1 and AVR-Pita2 is highly variable in its genome location, occurring in chromosomes 1, 3, 4, 5, 6, 7, and supernumerary chromosomes, particularly in rice-infecting isolates. When expressed in M. oryzae, most of the AVR-Pita homologs could elicit Pita-mediated resistance, even those from non-rice isolates. AVR-Pita was flanked by a retrotransposon, which presumably contributed to its multiple translocation across the genome. On the other hand, family member AVR-Pita3, which lacks avirulence activity, was stably located on chromosome 7 in a vast majority of isolates. These results suggest that the diversification in genome location of AVR-Pita in the rice isolates is a consequence of recognition by Pita in rice. We propose a model that the multiple translocation of AVR-Pita may be associated with its frequent loss and recovery mediated by its transfer among individuals in asexual populations. This model implies that the high mobility of AVR-Pita is a key mechanism accounting for the rapid adaptation toward Pita. Dynamic adaptation of some fungal plant pathogens may be achieved by deletion and recovery of avirulence genes using a population as a unit of adaptation.

  5. Comparison of BAC FISH with specific telomeres and centromere probes and chromosome painting on detection of chromosome translocation induced by irradiation%BAC FISH与PAINT法检测辐射诱发染色体易位的比较

    Institute of Scientific and Technical Information of China (English)

    刘青杰; 陆雪; 封江彬; 王晓维; 陈德清

    2008-01-01

    Objective To compare the efficiency of BAC FISH established in our lab and conventional chromosome painting(PAINT)on detection of radiation-induced chromosome translocation.Methods Healthy human peripheral blood samples were irradiated with 0~5.0 Gy 60Co γ-rays.Then chromosome translocations in these samples were detected with BAC FISH and PAINT using chromosomes 1.2 and 4.The genome translocation rates were calculated with observed chromosome translocation rates,and the dose-response curve of two methods were established.Results The genome translocation rates induced by 0~5.0 Gy 60Co γ-rays detected by BAC FISH and PAINT were increased with absorbed doses.The observed translocation rates with BAC FISH were higher than that with PAINT at each dose level.The dose-response curve were Y=0.043 D2+0.0008D+0.0048 for BAC FISH and Y=0.043D2+0.006D+0.0027 for PAINT.Conclusions The translocation rate detected by BAC FISH was higher than that by PAINT,and the parameters β in dose-response curve equation were same by two methods.%目的 比较自行建立的BAC FISH方法和常规染色体涂染(PAINT)方法分析辐射诱发染色体易位有效性的不同.方法 对正常人外周血照射不同剂量(0~5.0 Gy)的60Co γ射线,用1、2和4号染色体特异性端粒和着丝粒探针BAC FISH及PAINT分析染色体易位,将观察到的染色体易位率换算为全基因组易位率,并建立两种方法分析辐射诱发的染色体易位率剂量-效应曲线.结果 用两种方法分析0~5.0 Gy 60Coγ射线诱发的全基因组易位率均随着吸收剂量的增加而增高;在相同的剂量点,BAC FISH染色体易位检出率高于PAINT方法.两种方法分析吸收剂量和全基因组易位率之间的剂量-效应曲线均为二次方程模式,分别为Y=0.043D2+0.0008D+0.0048(BAC FISH)和Y=0.043D2+0.006D+0.0027(PAINT).结论 自行建立的BAC FISH方法分析辐射诱发染色体易位检出率高于常规染色体涂染方法,两种方法建立的

  6. Mutation of histone H3 serine 86 disrupts GATA factor Ams2 expression and precise chromosome segregation in fission yeast

    OpenAIRE

    Kim Kiat Lim; Terenze Yao Rui Ong; Yue Rong Tan; Eugene Guorong Yang; Bingbing Ren; Kwi Shan Seah; Zhe Yang; Tsu Soo Tan; Dymock, Brian W.; Ee Sin Chen

    2015-01-01

    Eukaryotic genomes are packed into discrete units, referred to as nucleosomes, by organizing around scaffolding histone proteins. The interplay between these histones and the DNA can dynamically regulate the function of the chromosomal domain. Here, we interrogated the function of a pair of juxtaposing serine residues (S86 and S87) that reside within the histone fold of histone H3. We show that fission yeast cells expressing a mutant histone H3 disrupted at S86 and S87 (hht2-S86AS87A) exhibit...

  7. A non-B DNA can replace heptamer of V(D)J recombination when present along with a nonamer: implications in chromosomal translocations and cancer.

    Science.gov (United States)

    Nishana, Mayilaadumveettil; Raghavan, Sathees C

    2012-11-15

    The RAG (recombination-activating gene) complex is responsible for the generation of antigen receptor diversity by acting as a sequence-specific nuclease. Recent studies have shown that it also acts as a structure-specific nuclease. However, little is known about the factors regulating this activity at the genomic level. We show in the present study that the proximity of a V(D)J nonamer to heteroduplex DNA significantly increases RAG cleavage and binding efficiencies at physiological concentrations of MgCl(2). The position of the nonamer with respect to heteroduplex DNA was important, but not orientation. A spacer length of 18 bp between the nonamer and mismatch was optimal for RAG-mediated DNA cleavage. Mutations to the sequence of the nonamer and deletion of the nonamer-binding domain of RAG1 reinforced the role of the nonamer in the enhancement in RAG cleavage. Interestingly, partial mutation of the nonamer did not significantly reduce RAG cleavage on heteroduplex DNA, suggesting that even cryptic nonamers were sufficient to enhance RAG cleavage. More importantly, we show that the fragile region involved in chromosomal translocations associated with BCL2 (B-cell lymphoma 2) can be cleaved by RAGs following a nonamer-dependent mechanism. Hence our results from the present study suggest that a non-B DNA can replace the heptamer of RSS (recombination signal sequence) when present adjacent to nonamers, explaining the generation of certain chromosomal translocations in lymphoid malignancies. PMID:22891626

  8. Molecular cloning of t(2;7)(p24.3;p14.2), a novel chromosomal translocation in myelodysplastic syndrome-derived acute myeloid leukemia.

    Science.gov (United States)

    Fujita, Kazuhiro; Sanada, Masashi; Harada, Hiroshi; Mori, Hiraku; Niikura, Haruo; Omine, Mitsuhiro; Inazawa, Johji; Imoto, Issei

    2009-06-01

    In this study, we report the molecular structure of the breakpoint region in a new chromosomal translocation, t(2;7)(p24.3;p14.2), in a case of acute myeloid leukemia transformed from myelodysplastic syndrome (MDS). An extensive fluorescence in situ hybridization (FISH) analysis showed that NAG (2p24.3) and ELMO1 (7p14.2) were involved at the breakpoints of t(2;7)(p24.3;p14.2). Furthermore, we detected a novel chimeric transcript consisting of NAG and ELMO1. Interestingly, this transcript encoded a truncated molecular form of 3'ELMO1 as the result of a frameshift caused by the chromosomal translocation. Although this study does not provide direct evidence that a defect in NAG-ELMO1 plays a role in the pathogenesis or the leukemic change in MDS, it does suggest that defects in NAG-ELMO1 potentially contributed to the leukemic progression in this case. PMID:19407829

  9. The 18-kDa Translocator Protein (TSPO) Disrupts Mammary Epithelial Morphogenesis and Promotes Breast Cancer Cell Migration

    OpenAIRE

    Xiaoting Wu; Gallo, Kathleen A.

    2013-01-01

    Mitochondria play important roles in cancer progression and have emerged as viable targets for cancer therapy. Increasing levels of the outer mitochondrial membrane protein, 18-kDa translocator protein (TSPO), are associated with advancing breast cancer stage. In particular, higher TSPO levels are found in estrogen receptor (ER)-negative breast tumors, compared with ER-positive tumors. In this study, we sought to define the roles of TSPO in the acquisition of breast cancer malignancy. Using a...

  10. Impact of personal and environmental factors on the rate of chromosome aberrations named translocations - Part 1: age, gender, smoking, alcohol; Impact des facteurs individuels et environnementaux sur le taux d'aberrations chromosomiques de type translocations - Partie 1: age, sexe, tabac, alcool

    Energy Technology Data Exchange (ETDEWEB)

    Gregoire, E.; Gruel, G.; Martin, C.; Roch-Lefevre, S.; Vaurijoux, A.; Voisin, P.; Roy, L. [IRSN, Laboratoire de Dosimetrie Biologique, 92 - Fontenay-aux-Roses (France)

    2010-04-15

    The assessment of exposure to ionizing radiation, carried out long time after exposure, is currently performed by scoring of translocations, a specific type of chromosomal aberrations. The translocations rate observed in peripheral blood lymphocytes of exposed subjects is compared to that observed in a control population. However, the translocation specificity towards radiation exposure is not clearly identified. To avoid any hasty conclusion, it is necessary to identify all the factors likely to induce translocation. To our knowledge, no study has thus far examined the effects of all these different factors on translocation rates. A review of the literature thus allowed us to assess the impact of host factors and lifestyle on the production of translocations. This study confirms that age appears to be the factor having the greatest impact on the rate of translocations, especially over 60 years. To date, the factor 'age' is already considered in estimating the impact of radiation on the rate of translocation for all age groups. However, the study also shows that this rate varies significantly when the patient is exposed simultaneously and significantly towards many lifestyle agents. A precise threshold translocation rate should thus be established as a function of known behavioral exposures, below which it is impossible to conclude that radiological exposure has occurred. The effects of chemicals on the translocation rate after occupational exposure will be the subject of a second part. (authors)

  11. First Birth after Sperm Selection through Discontinuous Gradient Centrifugation and Artificial Insemination from a Chromosomal Translocation Carrier

    OpenAIRE

    Alexandre Rouen; Capucine Hyon; Richard Balet; Nicole Joyé; Nino Guy Cassuto; Jean-Pierre Siffroi

    2014-01-01

    Introduction. Balanced chromosomal carriers, though usually healthy, are confronted with recurrent spontaneous abortions and malformations in the offspring. Those are related to the transmission of an abnormal, chromosomally unbalanced genotype. We evidenced that the proportion of unbalanced spermatozoa can be significantly decreased through a sperm preparation process called discontinuous gradient centrifugation (DGC). We therefore started offering intrauterine inseminations with this proced...

  12. New Complex Chromosomal Translocation in Chronic Myeloid Leukaemia: t(9;18;22)(q34;p11;q11)

    OpenAIRE

    Abdeljabar El Andaloussi; Chrystele Bilhou-Nabera

    2007-01-01

    A Chronic myeloid leukaemia (CML) case with a new complex t(9;18;22)(q34;p11;q11) of a 29-year-old man is being reported. For the first time, this translocation has been characterized by karyotype complemented with fluorescence in situ hybridization (FISH). In CML, the complex and standard translocations have the same prognosis. The patient was treated with standard initial therapy based on hydroxyurea before he died due to heart failure four months later. Our finding indicates the importa...

  13. New Complex Chromosomal Translocation in Chronic Myeloid Leukaemia: t(9;18;22(q34;p11;q11

    Directory of Open Access Journals (Sweden)

    Abdeljabar El Andaloussi

    2007-01-01

    Full Text Available A Chronic myeloid leukaemia (CML case with a new complex t(9;18;22(q34;p11;q11 of a 29-year-old man is being reported. For the first time, this translocation has been characterized by karyotype complemented with fluorescence in situ hybridization (FISH. In CML, the complex and standard translocations have the same prognosis. The patient was treated with standard initial therapy based on hydroxyurea before he died due to heart failure four months later. Our finding indicates the importance of combined cytogenetic analysis for diagnosis and guidance of treatment in clinical diagnosis of CML.

  14. Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies

    NARCIS (Netherlands)

    Kim, H.G.; Kim, H.T.; Leach, N.T.; Lan, F.; Ullmann, R.; Silahtaroglu, A.; Kurth, I.; Nowka, A.; Seong, I.S.; Shen, Y.; Talkowski, M.E.; Ruderfer, D.; Lee, J.H.; Glotzbach, C.; Ha, K.; Kjaergaard, S.; Levin, A.V.; Romeike, B.F.; Kleefstra, T.; Bartsch, O.; Elsea, S.H.; Jabs, E.W.; MacDonald, M.E.; Harris, D.J.; Quade, B.J.; Ropers, H.H.; Shaffer, L.G.; Kutsche, K.; Layman, L.C.; Tommerup, N.; Kalscheuer, V.M.; Shi, Y.; Morton, C.C.; Kim, C.H.; Gusella, J.F.

    2012-01-01

    Potocki-Shaffer syndrome (PSS) is a contiguous gene disorder due to the interstitial deletion of band p11.2 of chromosome 11 and is characterized by multiple exostoses, parietal foramina, intellectual disability (ID), and craniofacial anomalies (CFAs). Despite the identification of individual genes

  15. The Presence of Translocation [t(16;19(q24;q12x2] between Two Copy of Non-homologous Chromosomes at a Case with Atypical Facial Appearance and Mental Retardation

    Directory of Open Access Journals (Sweden)

    Nilgun Tanriverdi

    2013-06-01

    Full Text Available Purpose: Mental retardation is a common handicap (2-3% of the general population with an unknown cause in more than 50% of mentally retarded patients. Important causes are chromosome abnormalities which are detectable in 4-28% of cases, depending on the patient selection and techniques used. Aim of the study was to determine possible association between atypic facial appearance, mental retardation and the translocation [t(16;19(q24;q12x2] between two copy of non homolog chromosomes. Materials and Methods: Chromosomal analysis of peripheral blood lymphocytes from the proband and her family were performed with standart protocols at the Cukurova University hospital in Turkey. Results: We assessed the second and third generation of the family in which the translocation between chromosomes 16 and 19 segregates: one of the three progenies with the karyotype 46,XY, t(16;19(q24;q12 was heterozygote for the translocation and presented normal phenotype. One of the three progenies with the karyotype 46,XY presented normal phenotype also and the third with the karyotype 46,XY [t(16;19(q24;q12x2] was the proband. The parents were consanguinous, heterozygote for the translocation, and presented normal phenotype. Conclusions: Atypialc facial appearance and mental retardation could be associated with the homozygote translocation. These findings can be used in clinical genetics and may be used as an effective tool for reproductive guidance and genetic counseling. [Cukurova Med J 2013; 38(3.000: 540-542

  16. Elucidation of intergenomic recombination and chromosome translocation: meiotic evidence from interspecific hybrids of Lilium through GISH analysis

    NARCIS (Netherlands)

    Xie, S.L.; Ramanna, M.S.; Visser, R.G.F.; Arens, P.; Tuyl, van J.M.

    2013-01-01

    Intergenomic exchange has been found to be a normal phenomenon in sexual polyploids. In order to distinguish whether such exchanges are derived from intergenomic recombination or translocation, 13 genotypes of an interspecific hybrid, which were previously used as parents to generate sexual polyploi

  17. A t(3;8) chromosomal translocation associated with hepatitis B virus intergration involves the carboxypeptidase N locus.

    OpenAIRE

    Pineau, P.; Marchio, A; Terris, B; Mattei, M G; Tu, Z X; Tiollais, P; Dejean, A

    1996-01-01

    Integrated hepatitis B virus (HBV) DNA is found in the great majority of human hepatocellular carcinomas, suggesting that these viral integrations may be implicated in liver oncogenesis. Besides the insertional mutagenesis characterized in a few selected cases and the contribution of viral transactivators to cell transformation to malignancy, HBV has been shown to generate gross chromosomal rearrangements potentially involved in carcinogenesis. Here, we report a t(3;8) chromosomal translocati...

  18. Major translocations in genetic counselling

    Institute of Scientific and Technical Information of China (English)

    József Gábor Joó; Ákos Csaba; Zsanett Szigeti; Judit Nagy Oroszné; János Rigó jr

    2012-01-01

    Objective:To review major chromosome translocation, with special regard to the clinical differences between balanced and unbalanced, as well as de novo and inherited cases.Methods:The authors have included cases of major chromosome translocations detected during a20-year period.Among the28 cases,25 patients carried balanced and3 were affected by unbalanced translocations.Results:In cases of balanced translocation, maternal age ranged between26 and42 years, with a median age value of(30.5±2.67) years, while in unbalanced translocations the values were between24-37 with a median age of(30.5±4.59) years.In three cases(13%) of balanced translocations in the patient’s history previous chromosomal aberrations had been recorded.In nine cases of the same group(39%) previous miscarriages were reported.In cases in which balanced translocation was suspected, karyotyping was done in the16th-23rdgestational weeks.In three cases of unbalanced translocation, karyotyping was performed in weeks18 or19. Among the28 cases examined by us,12 carried reciprocal and16 were affected byRobertsonian translocations.If the involvement of chromosomes in balanced translocations was concerned, chromosome14was found to be overwhelmingly affected.In14 of the25 cases(56%) examined by us, this chromosome was definitely affected by translocation.Frequently occurring translocations in chromosomes1,13 and22 are also worth mentioning.Conclusions:Ultrasonography performed after karyotyping-in the cases of balanced translocations-and the results of fetal echocardiography-if such imaging was done at all-provide important information about the prognosis of the fetus.In case of sonographically normal fetal anatomy the good outcome of pregnancy is probable, while in cases of unbalanced translocations the sonography reconfirms the chances of poor outcome.

  19. Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities

    OpenAIRE

    Hodge, Jennelle C.; Mitchell, Elyse; Pillalamarri, Vamsee; Toler, Tomi L.; Bartel, Frank; Hutton M Kearney; Zou, Ying S; Tan, Wen-Hann; Hanscom, Carrie; Kirmani, Salman; Hanson, Rae R.; Skinner, Steven A.; Rogers, Curtis; Everman, David B.; Boyd, Ellen

    2013-01-01

    Microdeletions of chromosomal region 2q23.1 that disrupt MBD5 contribute to a spectrum of neurodevelopmental phenotypes, however the impact of this locus in human psychopathology has not been described. To characterize the structural variation landscape of MBD5 disruptions and the associated psychopathology, 22 individuals with genomic disruption of MBD5 (translocation, point mutation, and deletion) were identified through whole-genome sequencing or cytogenomic microarray at 11 molecular diag...

  20. Mitotic Spindle Disruption by Alternating Electric Fields Leads to Improper Chromosome Segregation and Mitotic Catastrophe in Cancer Cells.

    Science.gov (United States)

    Giladi, Moshe; Schneiderman, Rosa S; Voloshin, Tali; Porat, Yaara; Munster, Mijal; Blat, Roni; Sherbo, Shay; Bomzon, Zeev; Urman, Noa; Itzhaki, Aviran; Cahal, Shay; Shteingauz, Anna; Chaudhry, Aafia; Kirson, Eilon D; Weinberg, Uri; Palti, Yoram

    2015-01-01

    Tumor Treating Fields (TTFields) are low intensity, intermediate frequency, alternating electric fields. TTFields are a unique anti-mitotic treatment modality delivered in a continuous, noninvasive manner to the region of a tumor. It was previously postulated that by exerting directional forces on highly polar intracellular elements during mitosis, TTFields could disrupt the normal assembly of spindle microtubules. However there is limited evidence directly linking TTFields to an effect on microtubules. Here we report that TTFields decrease the ratio between polymerized and total tubulin, and prevent proper mitotic spindle assembly. The aberrant mitotic events induced by TTFields lead to abnormal chromosome segregation, cellular multinucleation, and caspase dependent apoptosis of daughter cells. The effect of TTFields on cell viability and clonogenic survival substantially depends upon the cell division rate. We show that by extending the duration of exposure to TTFields, slowly dividing cells can be affected to a similar extent as rapidly dividing cells. PMID:26658786

  1. Influence of HLA DQ 2/8 genotypes in predisposing type 1 diabetes in siblings of a Saudi family with paternally inherited chromosomal translocations.

    Science.gov (United States)

    Cherian, Mathew P

    2012-01-01

    Type 1 diabetes is one of the most widely studied complex genetic disorders and the genes in human leukocyte antigen (HLA) locus are reported to account approximately 40%-50% of familial aggregation of type 1 diabetes. Genetic markers are helpful in assessing the risk of type 1 diabetes in the general population as well as in close relatives of a patient with type 1 diabetes. The major genetic determinants of this disease are polymorphisms of class II HLA genes encoding DQ and DR. The major susceptibility genes for type 1 diabetes are in the HLA region, and over 90% of patients carry genotypes DR4, DQ8 and/or DR3, DQ2. Absence of the above alleles makes type 1 diabetes very unlikely, especially if the subject carries protective genotypes such as DR2 and/or DQ6. In this brief report of a consanguineous Saudi family, four offsprings inherited one or both of balanced reciprocal translocations from their father. Two offsprings, one with a translocation and the other without, developed type 1 diabetes during early childhood. Both these diabetic children were found to have HLA genotype DQ 2/8, whereas the father and the youngest daughter, both carrying two sets of balanced translocations as well as the protective HLA genotype DQ6, were free of diabetes during several years of observation. This underscores the influence of HLA genotype DQ 2/8 in the susceptibility and DQ6 in the protective effect on type 1 diabetes even in individuals with gross chromosomal abnormalities. PMID:22876559

  2. Chromosomal jumping from the DXS165 locus allows molecular characterization of four microdeletions and a de novo chromosome X/13 translocation associated with choroideremia.

    OpenAIRE

    Cremers, F P; van de Pol, D J; Wieringa, B; Collins, F S; Sankila, E M; Siu, V. M.; Flintoff, W F; Brunsmann, F.; Blonden, L A; Ropers, H H

    1989-01-01

    Choroideremia (tapeto-choroidal dystrophy, TCD), an X chromosome-linked disorder of retina and choroid, causes progressive nightblindness and central blindness in affected males by the third to fourth decade of life. Recently, we have been able to map the TCD gene to a small region of overlap between five different, male-viable Xq21 deletions that were found in patients with TCD and other clinical features. Two families were identified in which classical, nonsyndromic TCD is associated with s...

  3. Disruption of Maternal DNA Repair Increases Sperm-DerivedChromosomal Aberrations

    Energy Technology Data Exchange (ETDEWEB)

    Marchetti, Francesco; Essers, Jeroun; Kanaar, Roland; Wyrobek,Andrew J.

    2007-02-07

    The final weeks of male germ cell differentiation occur in aDNA repair-deficient environment and normal development depends on theability of the egg to repair DNA damage in the fertilizing sperm. Geneticdisruption of maternal DNA double-strand break repair pathways in micesignificantly increased the frequency of zygotes with chromosomalstructural aberrations after paternal exposure to ionizing radiation.These findings demonstrate that radiation-induced DNA sperm lesions arerepaired after fertilization by maternal factors and suggest that geneticvariation in maternal DNA repair can modulate the risk of early pregnancylosses and of children with chromosomal aberrations of paternalorigin.

  4. The 18-kDa translocator protein (TSPO disrupts mammary epithelial morphogenesis and promotes breast cancer cell migration.

    Directory of Open Access Journals (Sweden)

    Xiaoting Wu

    Full Text Available Mitochondria play important roles in cancer progression and have emerged as viable targets for cancer therapy. Increasing levels of the outer mitochondrial membrane protein, 18-kDa translocator protein (TSPO, are associated with advancing breast cancer stage. In particular, higher TSPO levels are found in estrogen receptor (ER-negative breast tumors, compared with ER-positive tumors. In this study, we sought to define the roles of TSPO in the acquisition of breast cancer malignancy. Using a three-dimensional Matrigel culture system, we determined the impact of elevated TSPO levels on mammary epithelial morphogenesis. Our studies demonstrate that stable overexpression of TSPO in mammary epithelial MCF10A acini drives proliferation and provides partial resistance to luminal apoptosis, resulting in enlarged acinar structures with partially filled lumen that resemble early stage breast lesions leading to breast cancer. In breast cancer cell lines, TSPO silencing or TSPO overexpression significantly altered the migratory activity. In addition, we found that combination treatment with the TSPO ligands (PK 11195 or Ro5-4864 and lonidamine, a clinical phase II drug targeting mitochondria, decreased viability of ER-negative breast cancer cell lines. Taken together, these data demonstrate that increases in TSPO levels at different stages of breast cancer progression results in the acquisition of distinct properties associated with malignancy. Furthermore, targeting TSPO, particularly in combination with other mitochondria-targeting agents, may prove useful for the treatment of ER-negative breast cancer.

  5. Tourette syndrome in a pedigree with a 7;18 translocation: Identification of a YAC spanning the translocation breakpoint at 18q22.3

    Energy Technology Data Exchange (ETDEWEB)

    Boghosian-Sell, L.; Overhauser, J. [Thomas Jefferson Univ., Philadelphia, PA (United States); Comings, D.E. [City of Hope Medical Center, Duarte, CA (United States)

    1996-11-01

    Tourette syndrome is a neuropsychiatric disorder characterized by the presence of multiple, involuntary motor and vocal tics. Associated pathologies include attention deficit disorder and obsessive-compulsive disorder (OCD). Extensive linkage analysis based on an autosomal dominant mode of transmission with reduced penetrance has failed to show linkage with polymorphic markers, suggesting either locus heterogeneity or a polygenic origin for Tourette syndrome. An individual diagnosed with Tourette syndrome has been described carrying a constitutional chromosome translocation. Other family members carrying the translocation exhibit features seen in Tourette syndrome including motor tics, vocal tics, and OCD. Since the disruption of specific genes by a chromosomal rearrangement can elicit a particular phenotype, we have undertaken the physical mapping of the 7;18 translocation such that genes mapping at the site of the breakpoint can be identified and evaluated for a possible involvement in Tourette syndrome. Using somatic cell hybrids retaining either the der(7) or the der(18), a more precise localization of the breakpoints on chromosomes 7 and 18 have been determined. Furthermore, physical mapping has identified two YAC clones that span the translocation breakpoint on chromosome 18 as determined by FISH. These YAC clones will be useful for the eventual identification of genes that map to chromosomes 7 and 18 at the site of the translocation. 41 refs., 3 figs., 1 tab.

  6. Clinical Analysis of the Relationship between Balanced Chromosomal Translocation and Abnormal Pregnancy%染色体平衡易位携带者引起不良孕育的临床分析

    Institute of Scientific and Technical Information of China (English)

    沈红霞; 尹坤

    2015-01-01

    目的:通过对2450例有自然流产、死胎、畸胎、少精等不良孕育史的患者的染色体结果调查,探讨平衡易位与不良孕育史的关系。方法:取外周血进行淋巴细胞培养,染色体G显带分析。结果:2450例患者中检出染色体平衡易位22例(罗伯逊易位3例),占0.90%。患者表现为自然流产、死胎、畸形儿、少精等不良孕育史。结论:染色体平衡易位是导致患者不良孕育史的重要原因之一。对这类人群进行遗传优生和产前诊断及辅助生殖指导等有针对性的检查和临床干预是非常必要的。%Objective: To investigate 2 450 patients' chromosomes with a history of abnormal pregnancy such as spontaneous abortion, fetal death, teratism, and oligospermia and to explore the relationship between balanced chromosomal translocation and abnormal pregnancy. Methods:Chromosomal analysis was made by peripheral lymphocytes culture and G-banding. Results:22 cases of balanced translocation were discovered(3 cases of robertsonian translocation)accounting for 0.90%. Spontaneous abortion, fetal death, teratism, and oligospermia were main manifestations of abnormal pregnancy. Conclusion:Balanced chromosomal translocation was a major reason for abnormal pregnancy. Examination of heredity and prepotency, prenatal diagnosis, guidance on assisted production were necessary for balanced chromosomal translocation carriers.

  7. γ-H2AX induced by linear alkylbenzene sulfonates is due to deoxyribonuclease-1 translocation to the nucleus via actin disruption

    International Nuclear Information System (INIS)

    Graphical abstract: - Highlights: • Non-genotoxic linear alkylbenzene sulfonates (LAS) generated γ-H2AX. • The γ-H2AX was not induced through direct LAS-induced DNA damage. • LAS weakened interactions between actin and DNase I. • Released DNase I translocated to nucleus and broke DNA strands, generating γ-H2AX. • This is a novel pathway for chemically induced γ-H2AX. - Abstract: Phosphorylation of histone H2AX (γ-H2AX) occurs following formation of DNA double strand breaks (DSBs). Other types of DNA damage also generate DSBs through DNA replication and repair, leading to the production of γ-H2AX. In the present study, we demonstrated that linear alkylbenzene sulfonates (LAS), the most widely used and non-genotoxic anionic surfactants, could generate γ-H2AX via a novel pathway. Breast adenocarcinoma MCF-7 cells were treated with five kinds of LAS with alkyl chains ranging from 10 to 14 carbon units (C10–C14LAS). The generation of DSBs and subsequent production of γ-H2AX increased in a manner that depended on the number of carbon units in LAS. γ-H2AX could also be generated with non-cytotoxic doses of LAS and was independent of the cell cycle, indicating the non-apoptotic and DNA replication-independent formation of DSBs. The generation of γ-H2AX could be attenuated by EGTA and ZnCl2, deoxyribonuclease-1 (DNase I) inhibitors, as well as by the knockdown of DNase I. LAS weakened the interaction between DNase I and actin, and the enhanced release of DNase I was dependent on the number of carbon units in LAS. DNase I released by the LAS treatment translocated to the nucleus, in which DNase I attacked DNA and generated γ-H2AX. These results suggested that the LAS-induced generation of γ-H2AX could be attributed to the translocation of DNase I to the nucleus through the disruption of actin, and not to LAS-induced DNA damage

  8. γ-H2AX induced by linear alkylbenzene sulfonates is due to deoxyribonuclease-1 translocation to the nucleus via actin disruption

    Energy Technology Data Exchange (ETDEWEB)

    Zhao, Xiaoxu; Toyooka, Tatsushi; Kubota, Toru; Yang, Guang; Ibuki, Yuko, E-mail: ibuki@u-shizuoka-ken.ac.jp

    2015-07-15

    Graphical abstract: - Highlights: • Non-genotoxic linear alkylbenzene sulfonates (LAS) generated γ-H2AX. • The γ-H2AX was not induced through direct LAS-induced DNA damage. • LAS weakened interactions between actin and DNase I. • Released DNase I translocated to nucleus and broke DNA strands, generating γ-H2AX. • This is a novel pathway for chemically induced γ-H2AX. - Abstract: Phosphorylation of histone H2AX (γ-H2AX) occurs following formation of DNA double strand breaks (DSBs). Other types of DNA damage also generate DSBs through DNA replication and repair, leading to the production of γ-H2AX. In the present study, we demonstrated that linear alkylbenzene sulfonates (LAS), the most widely used and non-genotoxic anionic surfactants, could generate γ-H2AX via a novel pathway. Breast adenocarcinoma MCF-7 cells were treated with five kinds of LAS with alkyl chains ranging from 10 to 14 carbon units (C{sub 10}–C{sub 14}LAS). The generation of DSBs and subsequent production of γ-H2AX increased in a manner that depended on the number of carbon units in LAS. γ-H2AX could also be generated with non-cytotoxic doses of LAS and was independent of the cell cycle, indicating the non-apoptotic and DNA replication-independent formation of DSBs. The generation of γ-H2AX could be attenuated by EGTA and ZnCl{sub 2}, deoxyribonuclease-1 (DNase I) inhibitors, as well as by the knockdown of DNase I. LAS weakened the interaction between DNase I and actin, and the enhanced release of DNase I was dependent on the number of carbon units in LAS. DNase I released by the LAS treatment translocated to the nucleus, in which DNase I attacked DNA and generated γ-H2AX. These results suggested that the LAS-induced generation of γ-H2AX could be attributed to the translocation of DNase I to the nucleus through the disruption of actin, and not to LAS-induced DNA damage.

  9. p53's mitochondrial translocation and MOMP action is independent of Puma and Bax and severely disrupts mitochondrial membrane integrity

    Institute of Scientific and Technical Information of China (English)

    Sonja Wolff; Susan Erster; Gustavo Palacios; Ute M Moll

    2008-01-01

    p53's apoptotic program consists of transcription-dependent and transcription-independent pathways. In the latter, physical interactions between mitochondrial p53 and anti-and pro-apoptotic members of the Bcl2 family of mitochondrial permeability regulators are central. Using isogenic cell systems with defined deficiencies, we characterize in detail how mitochondrial p53 contributes to mitochondrial permeabilization, to what extent its action depends on other key Bcl2 family members and define its release activity. We show that mitochondrial p53 is highly efficient in inducing the release of soluble and insoluble apoptogenic factors by severely disrupting outer and inner mitochondrial membrane integrity. This action is associated with wild-type p53-induced oligomerization of Bax, Bak and VDAC and the formation of a stress-induced endogenous complex between p53 and cyclophilin D, normally located at the inner membrane. Tumor-derived p53 mutants are deficient in activating the Bax/Bak lipid pore. These actions are independent of Puma and Bax. Importantly, the latter distinguishes the mitochondrial from the cytosolic p53 death pathway.

  10. A Novel Four-Way Complex Variant Translocation Involving Chromosome 46,XY,t(4;9;19;22)(q25:q34;p13.3;q11.2) in a Chronic Myeloid Leukemia Patient

    Science.gov (United States)

    Asif, Muhammad; Jamal, Mohammad Sarwar; Khan, Abdul Rehman; Naseer, Muhammad Imran; Hussain, Abrar; Choudhry, Hani; Malik, Arif; Khan, Shahida Aziz; Mahmoud, Maged Mostafa; Ali, Ashraf; Iram, Saima; Kamran, Kashif; Iqbal, Asim; Abduljaleel, Zainularifeen; Pushparaj, Peter Natesan; Rasool, Mahmood

    2016-01-01

    Philadelphia (Ph) chromosome (9;22)(q34;q11) is well established in more than 90% of chronic myeloid leukemia (CML) patients, and the remaining 5–8% of CML patients show variant and complex translocations, with the involvement of third, fourth, or fifth chromosome other than 9;22. However, in very rare cases, the fourth chromosome is involved. Here, we found a novel case of four-way Ph+ chromosome translocation involving 46,XY,t(4;9;19;22)(q25:q34;p13.3;q11.2) with CML in the chronic phase. Complete blood cell count of the CML patient was carried out to obtain total leukocytes count, hemoglobin, and platelets. Fluorescence in situ hybridization technique was used for the identification of BCR–ABL fusion gene, and cytogenetic test for the confirmation of Ph (9;22)(q34;q11) and the mechanism of variant translocation in the bone marrow. The patient is successfully treated with a dose of 400 mg/day imatinib mesylate (Gleevec). We observed a significant decrease in white blood cell count of 11.7 × 109/L after 48-month follow-up. Patient started feeling better generally. There was a reduction in the swelling of the body, fatigue, and anxiety. PMID:27303656

  11. Reciprocal Translocations in Cattle: frequency estimation

    OpenAIRE

    De Lorenzi, Lisa; Morando, Paola; Planas Cuchi, Jordi; Zannotti, Michele; Molteni, Luciano; Parma, Pietro

    2010-01-01

    Chromosomal anomalies, like Robertsonian and reciprocal translocations represent a big problem in cattle breeding as their presence induces, in the carrier subjects, a well documented fertility reduction. In cattle reciprocal translocations (RCPs, a chromosome abnormality caused by an exchange of material between nonhomologous chromosomes) are considered rare as to date only 19 reciprocal translocations have been described. In cattle it is common knowledge that the Robertson...

  12. Characterization of two ectrodactyly-associated translocation breakpoints separated by 2.5 Mb on chromosome 2q14.1–q14.2

    OpenAIRE

    David, Dezső; Marques, Bárbara; Ferreira, Cristina; Vieira, Paula; Corona-Rivera, Alfredo; Ferreira, José Carlos; Van Bokhoven, Hans

    2009-01-01

    Split hand-split foot malformation or ectrodactyly is a heterogeneous congenital defect of digit formation. The aim of this study is the mapping of the breakpoints and a detailed molecular characterization of the candidate genes for an isolated and syndromic form of ectrodactyly, both associated with de novo apparently balanced chromosome translocations involving the same chromosome 2 band, [t(2;11)(q14.2;q14.2)] and [t(2;4)(q14.1;q35)], respectively. Breakpoints were mapped by fluorescence i...

  13. Analysis of relationship between patients with chromosomal translocation and the outcome of pregnancy%染色体易位携带者核型分析与妊娠结局的关系

    Institute of Scientific and Technical Information of China (English)

    张磷; 任梅宏; 张晓红; 宋桂宁; 王建六

    2013-01-01

    目的 探讨不同染色体间易位与临床效应的关系,为优生和辅助生殖提供理论指导.方法 收集2005年1月至2011年12月在北京大学人民医院不孕不育和产前诊断中心进行咨询的患者3067例,对其染色体核型及临床资料进行综合分析.结果 72例染色体易位患者中,17例妊娠后检测胎儿染色体易位位点与夫妻一方一致,继续妊娠(17例中70.59%有多次不良孕产史);另40例染色体易位患者有1~5次不良妊娠史,导致不育结局;还有15例染色体易位患者表现为不同程度的生殖器形态或功能障碍,致原发不孕.结论 染色体易位携带者是男女不孕不育的重要因素之一,对其自然受孕或辅助生殖者应行产前诊断,以避免染色体异常患儿出生.%Objective To explore the relationship between chromosome translocation and their phenotypic effect by analyzing the patients with loss pregnancy and avoiding fetuses with chromosomal abnormalities.Methods A total of 3067 cases with infertility or loss pregnancy were recruited to receive chromosome examination during January 2005 to December 2011 at Center of Prenatal Diagnosis,Peking University People's Hospital.Retrospective study was used to analyze the chromosome karyotypes and infertility or loss pregnancy.Results In 72 cases of patients with chromosome translocation,there were 17 pregnancies with homology translocation in fetus.And the numbers of patients with loss pregnancy and sex apparatus malformations were 40 and 15 respectively.Conclusion Chromosome translocation plays an important role in patients with loss pregnancy or infertility.And chromosome examination should be performed to exclude the possibility of chromosome abnormities in patients with obstinate infertility.

  14. The Presence of Translocation [t(16;19)(q24;q12)x2] between Two Copy of Non-homologous Chromosomes at a Case with Atypical Facial Appearance and Mental Retardation

    OpenAIRE

    Nilgun Tanriverdi; Ayfer Pazarbasi; Dilara Suleymanova Karahan; Ilker Guney; Deniz Tastemir; Erdal Tunc; Osman Demirhan; Ozlem Herguner

    2013-01-01

    Purpose: Mental retardation is a common handicap (2-3% of the general population) with an unknown cause in more than 50% of mentally retarded patients. Important causes are chromosome abnormalities which are detectable in 4-28% of cases, depending on the patient selection and techniques used. Aim of the study was to determine possible association between atypic facial appearance, mental retardation and the translocation [t(16;19)(q24;q12)x2] between two copy of non homolog chromosomes. Materi...

  15. The Presence of Translocation [t(16;19)(q24;q12)x2] between Two Copy of Non-homologous Chromosomes at a Case with Atypical Facial Appearance and Mental Retardation

    OpenAIRE

    Tanrıverdi, Nilgün; Pazarbaşı, Ayfer; Karahan, Dilara Süleymanova; Güney, İlker; Taştemir, Deniz; Tunç, Erdal; DEMIRHAN, OSMAN; Hergüner, Özlem

    2013-01-01

    Purpose: Mental retardation is a common handicap (2-3% of the general population) with an unknown cause in more than 50% of mentally retarded patients. Important causes are chromosome abnormalities which are detectable in 4-28% of cases, depending on the patient selection and techniques used. Aim of the study was to determine possible association between atypic facial appearance, mental retardation and the translocation [t(16;19)(q24;q12)x2] between two copy of non homolog chromosomes. Mate...

  16. A Novel Non-Immunoglobulin (non-Ig)/BCL6 Translocation in Diffuse Large B-Cell Lymphoma Involving Chromosome 10q11.21 Loci and Review on Clinical Consequences of BCL6 Rearrangements.

    Science.gov (United States)

    Jarosova, Marie; Kriegova, Eva; Schneiderova, Petra; Fillerova, Regina; Prochazka, Vit; Mikesova, Michaela; Flodr, Patrik; Indrak, Karel; Papajik, Tomas

    2016-04-01

    BCL6 rearrangements (3q27) are the most common chromosomal abnormalities in diffuse large B-cell lymphoma (DLBCL), with numerous immunoglobulin (Ig) and non-Ig genes as partners. In DLBCL, the translocations occur predominantly in the "major breakpoint region" encompassing the first noncoding exon and a part of the first intron of BCL6; few cases with "alternative breakpoint cluster" located 245-285 kb 5' BCL6 were also described. The regulatory sequences of known Ig and non-Ig partners replace the 5' untranslated region of the BCL6 in the same transcriptional orientation. Contrary to Ig/BCL6 fusions typical by high BCL6 gene expression, in non-Ig/BCL6 translocations were observed unexpectedly low BCL6 mRNA levels. From the clinical point of view, the survival rate of DLBCL patients with non-Ig partners is inferior to those with Ig/BCL6 translocations, suggesting that non-Ig/BCL6 fusion is a poor prognostic indicator. Hereby we provide comprehensive information about known non-Ig translocation partners and clinical consequences of BCL6 rearrangements in DLBCL. Moreover, we describe a novel reciprocal translocation t(3;10) in refractory patient with DLBCL with the breaking points at 5' untranslated region of BCL6 and 5' untranslated region of the RASGEF1A gene on chromosome 10q11.21 loci; this rearrangement was associated with low BCL6 and RASGEF1A gene expressions. Our patient harbouring dual chromosomal rearrangement involving BCL2 and BCL6 genes relapsed three-times and died soon; thus, further supporting the notion that non-Ig/BCL6 fusion is a poor prognostic indicator of DLBCL. There is evidence of prognostic value of BCL6 rearrangements also in rituximab era. PMID:26319027

  17. Chromatid Painting for Chromosomal Inversion Detection Project

    Data.gov (United States)

    National Aeronautics and Space Administration — We propose the continued development of a novel approach to the detection of chromosomal inversions. Transmissible chromosome aberrations (translocations and...

  18. Chromatid Painting for Chromosomal Inversion Detection Project

    Data.gov (United States)

    National Aeronautics and Space Administration — We propose a novel approach to the detection of chromosomal inversions. Transmissible chromosome aberrations (translocations and inversions) have profound genetic...

  19. Risk evaluation of carriers with chromosome reciprocal translocation t(7;13)(q34;q13) and concomitant meiotic segregation analyzed by FISH on ejaculated spermatozoa.

    Science.gov (United States)

    Midro, Alina T; Wiland, Ewa; Panasiuk, Barbara; Leśniewicz, Ryszard; Kurpisz, Maciej

    2006-02-01

    We performed the segregation analysis of a relatively large pedigree of t(7;13)(q34;q13) carriers together with the sperm karyotype analysis of the one carrier using a tri-color fluorescence in situ hybridization (FISH) method. The risk assessments for unfavorable pregnancy outcomes in a series of 36 pregnancies in eight reciprocal chromosome translocation (RCT) couples of carriers were estimated directly from a pedigree after ascertainment correction. The individual probability rate for unbalanced child was predicted according to Stengel-Rutkowski and co-workers. The unbalanced karyotypes in the form of monosomy 7q34-->qter and trisomy 13q13-->qter were detected among stillborn/early death newborns with holoprosencephaly (HPE), cyclopia and other malformations. Based on clinical description of unkaryotyped stillbirth progeny, it can be assumed that the phenotype distinctions were connected with the unbalanced karyotype from 2:2 segregation (monosomy 7q with trisomy 13q) and 3:1 segregation as interchange trisomy 13 (Patau syndrome). Probability rates for miscarriages, stillbirth/early death were 12.9 +/- 6% (4/31) and 29 +/- 8.2% (9/31), respectively. The results of the meiotic segregation pattern indicated the rate of unbalanced spermatozoa for about 60%, with the unusual high rate (29.4%) of 3:1 segregant (i.e., 13.4% of the tertiary segregation and 16% of the interchange segregation). Adjacent-1 segregation followed with 23.5% and adjacent-2 followed with 7.2% of analyzed spermatozoa. The high rate of unbalanced gametes in comparison to the number of stillborn/early death and miscarriages detected in pedigree suggests a strong selection against unbalanced chromosomal constitutions during fetal development. It corresponds to a very small probability rate (about 0.3%) of viable unbalanced progeny from 3:1 meiotic segregation predicted for maternal carriers. This knowledge can be used in genetic counseling of families with similar RCT ascertained in a different

  20. Structural and functional studies of FKHR-PAX3, a reciprocal fusion gene of the t(2;13 chromosomal translocation in alveolar rhabdomyosarcoma.

    Directory of Open Access Journals (Sweden)

    Qiande Hu

    Full Text Available Alveolar rhabdomyosarcoma (ARMS is an aggressive pediatric cancer of skeletal muscle. More than 70% of ARMS tumors carry balanced t(2;13 chromosomal translocation that leads to the production of two novel fusion genes, PAX3-FKHR and FKHR-PAX3. While the PAX3-FKHR gene has been intensely studied, the reciprocal FKHR-PAX3 gene has rarely been described. We report here the cloning and functional characterization of the FKHR-PAX3 gene as the first step towards a better understanding of its potential impact on ARMS biology. From RH30 ARMS cells, we detected and isolated three versions of FKHR-PAX3 cDNAs whose C-terminal sequences corresponded to PAX3c, PAX3d, and PAX3e isoforms. Unlike the nuclear-specific localization of PAX3-FKHR, the reciprocal FKHR-PAX3 proteins stayed predominantly in the cytoplasm. FKHR-PAX3 potently inhibited myogenesis in both non-transformed myoblast cells and ARMS cells. We showed that FKHR-PAX3 was not a classic oncogene but could act as a facilitator in oncogenic pathways by stabilizing PAX3-FKHR expression, enhancing cell proliferation, clonogenicity, anchorage-independent growth, and matrix adhesion in vitro, and accelerating the onset of tumor formation in xenograft mouse model in vivo. In addition to these pro-oncogenic behaviors, FKHR-PAX3 also negatively affected cell migration and invasion in vitro and lung metastasis in vivo. Taken together, these functional characteristics suggested that FKHR-PAX3 might have a critical role in the early stage of ARMS development.

  1. De Novo ring chromosome 11 and non-reciprocal translocation of 11p15.3-pter to 21qter in a patient with congenital heart disease

    OpenAIRE

    PENG, YING; Ma, Ruiyu; Zhou, Yingjie; Xia, Yan; Wen, Juan; Zhang, Yanghui; Guo, Ruolan; Li, Haoxian; Pan, Qian; Zhang, Rui; Tang, Chengyuan; Liang, Desheng; Wu, Lingqian

    2015-01-01

    Background Ring chromosome 11[r (11)] is a rare chromosomal abnormality that forms when both arms of chromosome 11 break, and then reunite with each other. Once a ring chromosome forms, the distal ends of both arms of the chromosome are usually lost. Case Presentation We reported a 12 years old girl patient with congenital heart disease and distinctive facial features. Cytogenetic and molecular analyses using standard G-banding, fluorescence in situ hybridization and Single nucleotide polymor...

  2. High-performance analysis of single interphase cells with custom DNA probes spanning translocation break points

    Science.gov (United States)

    Weier, Heinz-Ulli G.; Munne, S.; Lersch, Robert A.; Marquez, C.; Wu, J.; Pedersen, Roger A.; Fung, Jingly

    1999-06-01

    The chromatin organization of interphase cell nuclei, albeit an object of intense investigation, is only poorly understood. In the past, this has hampered the cytogenetic analysis of tissues derived from specimens where only few cells were actively proliferating or a significant number of metaphase cells could be obtained by induction of growth. Typical examples of such hard to analyze cell systems are solid tumors, germ cells and, to a certain extent, fetal cells such as amniocytes, blastomeres or cytotrophoblasts. Balanced reciprocal translocations that do not disrupt essential genes and thus do not led to disease symptoms exit in less than one percent of the general population. Since the presence of translocations interferes with homologue pairing in meiosis, many of these individuals experience problems in their reproduction, such as reduced fertility, infertility or a history of spontaneous abortions. The majority of translocation carriers enrolled in our in vitro fertilization (IVF) programs carry simple translocations involving only two autosomes. While most translocations are relatively easy to spot in metaphase cells, the majority of cells biopsied from embryos produced by IVF are in interphase and thus unsuitable for analysis by chromosome banding or FISH-painting. We therefore set out to analyze single interphase cells for presence or absence of specific translocations. Our assay, based on fluorescence in situ hybridization (FISH) of breakpoint-spanning DNA probes, detects translocations in interphase by visual microscopic inspection of hybridization domains. Probes are prepared so that they span a breakpoint and cover several hundred kb of DNA adjacent to the breakpoint. On normal chromosomes, such probes label a contiguous stretch of DNA and produce a single hybridization domain per chromosome in interphase cells. The translocation disrupts the hybridization domain and the resulting two fragments appear as physically separated hybridization domains in

  3. Combined use of molecular cytogenetic techniques to detect a small chromosomal translocation%综合应用分子细胞遗传学技术检测一例染色体微小易位

    Institute of Scientific and Technical Information of China (English)

    谢英俊; 陈宝江; 吴坚柱; 陈争; 林少宾; 方群

    2011-01-01

    Objective Comprehensive use of molecular cytogenetic techniques for the detection of 1 case of small chromosome translocation.Methods Following conventional chromosome preparation,G-banding karyotype analysis, spectral karyotyping (SKY), whole chromosome painting, two-color fluorescence in situ hybridization (FISH) and subtelomeric probe FISH were performed.Results G-banded karyotype was 46,XX,? (22q11.3),SKY karyotype analysis was 46,XX,der (4) t (4 ; 6) and found no abnormalities on chromosome 22,staining signal was not found with any abnormalities on chromosome 6.Two-color FISH indicated a chromosomal translocation segment of 22q13.3 to one end of the short arm of chromosome 4.Subtelomeric FISH probe showed the end of the long arm of chromosome 22 and the end of the short arm of chromosome 4 reciprocal translocation. High resolution G-banding and FISH result indicated 46,XX,t(4;22)(p15.3;q13.2).Conclusion The testing of small chromosomal translocation should be combined with clinical information and integrated use of molecular cytogenetic techniques to improve the accuracy of diagnosis of chromosomal diseases.%目的 综合应用分子细胞遗传学技术对1例染色体微小易位的病例进行检测.方法 按常规制备染色体,G显带进行核型分析,并先后进行光谱核型分析(spectral karyotyping,SKY),染色体涂染,双色荧光原位杂交技术(fluorescence in situ hybridisation,FISH)检测,亚端粒探针FISH检测.结果 常规G显带染色体核型为46,XX,?(22q11.3),SKY核型分析结果:46,XX,der(4)t(4;6),未发现22号染色体异常,染色体涂染未发现6号染色体信号异常.双色FISH提示其中1个22号染色体22q13.3片段易位到另外1条4号染色体短臂末端.亚端粒探针FISH显示22号染色体长臂末端和4号染色体短臂末端的相互易位.综合上述结果结合染色体高分辨分析,得出染色体核型为:46,XX,t(4;22)(p15.3;q13.2).结论 对于染色体微小易位的病例,应结合相关

  4. Zinc Finger Domain of the PRDM9 Gene on Chromosome 1 Exhibits High Diversity in Ruminants but Its Paralog PRDM7 Contains Multiple Disruptive Mutations

    Science.gov (United States)

    Ahlawat, Sonika; Sharma, Priyanka; Sharma, Rekha; Arora, Reena; De, Sachinandan

    2016-01-01

    PRDM9 is the sole hybrid sterility gene identified so far in vertebrates. PRDM9 gene encodes a protein with an immensely variable zinc-finger (ZF) domain that determines the site of meiotic recombination hotspots genome-wide. In this study, the terminal ZF domain of PRDM9 on bovine chromosome 1 and its paralog on chromosome 22 were characterized in 225 samples from five ruminant species (cattle, yak, mithun, sheep and goat). We found extraordinary variation in the number of PRDM9 zinc fingers (6 to 12). We sequenced PRDM9 ZF encoding region from 15 individuals (carrying the same ZF number in both copies) and found 43 different ZF domain sequences. Ruminant zinc fingers of PRDM9 were found to be diversifying under positive selection and concerted evolution, specifically at positions involved in defining their DNA-binding specificity, consistent with the reports from other vertebrates such as mice, humans, equids and chimpanzees. ZF-encoding regions of the PRDM7, a paralog of PRDM9 on bovine chromosome 22 and on unknown chromosomes in other studied species were found to contain 84 base repeat units as in PRDM9, but there were multiple disruptive mutations after the first repeat unit. The diversity of the ZFs suggests that PRDM9 may activate recombination hotspots that are largely unique to each ruminant species. PMID:27203728

  5. Report of a female patient with mental retardation and tall stature due to a chromosomal rearrangement disrupting the OPHN1 gene on Xq12

    Science.gov (United States)

    Menten, Björn; Buysse, Karen; Vermeulen, Stefan; Meersschaut, Valerie; Vandesompele, Jo; Ng, Bee L.; P.Carter, Nigel; Mortier, Geert R.; Speleman, Frank

    2009-01-01

    We report on a patient with mental retardation, seizures and tall stature with advanced bone age in whom a de novo apparently balanced chromosomal rearrangement 46,XX,t(X;9)(q12;p13.3) was identified. Using array CGH on flow-sorted derivative chromosomes (array painting) and subsequent FISH and qPCR analysis, we mapped and sequenced both breakpoints. The Xq12 breakpoint was located within the gene coding for oligophrenin 1 (OPHN1) whereas the 9p13.3 breakpoint was assigned to a non-coding segment within a gene dense region. Disruption of OPHN1 by the Xq12 breakpoint was considered the major cause of the abnormal phenotype observed in the proband. PMID:17845870

  6. Third Chromosome Balancer Inversions Disrupt Protein-Coding Genes and Influence Distal Recombination Events in Drosophila melanogaster

    Directory of Open Access Journals (Sweden)

    Danny E. Miller

    2016-07-01

    Full Text Available Balancer chromosomes are multiply inverted chromosomes that suppress meiotic crossing over and prevent the recovery of crossover products. Balancers are commonly used in Drosophila melanogaster to maintain deleterious alleles and in stock construction. They exist for all three major chromosomes, yet the molecular location of the breakpoints and the exact nature of many of the mutations carried by the second and third chromosome balancers has not been available. Here, we precisely locate eight of 10 of the breakpoints on the third chromosome balancer TM3, six of eight on TM6, and nine of 11 breakpoints on TM6B. We find that one of the inversion breakpoints on TM3 bisects the highly conserved tumor suppressor gene p53—a finding that may have important consequences for a wide range of studies in Drosophila. We also identify evidence of single and double crossovers between several TM3 and TM6B balancers and their normal-sequence homologs that have created genetic diversity among these chromosomes. Overall, this work demonstrates the practical importance of precisely identifying the position of inversion breakpoints of balancer chromosomes and characterizing the mutant alleles carried by them.

  7. Chromosomal translocation t(X;18) in human synovial sarcomas analyzed by fluorescence in situ hybridization using paraffin-embedded tissue.

    OpenAIRE

    Nagao, K; Ito, H.; Yoshida, H.

    1996-01-01

    Synovial sarcoma is characterized cytogenetically by translocation t(X;18)(p11.2;q11.2). In this study, 28 cases that had been diagnosed initially as synovial sarcoma, including 2 fibrosarcomas, and 1 leiomyosarcoma were collected and examined for translocation t(X;18) on paraffin-embedded tissues by fluorescence in situ hybridization (FISH). Of the synovial sarcomas, 25 showed findings consistent with translocation t(X;18) with an additional copy signal for the total probe of X and 18 chromo...

  8. 小麦-黑麦1BL/1RS 易位染色体和外源染色体在两个三属杂种中的减数分裂行为%Meiotic Behavior of 1BL/1RS Translocation Chromosome and Alien Chromosome in Two Tri-genera Hybrids

    Institute of Scientific and Technical Information of China (English)

    李义文; 李振声; 贾旭

    2002-01-01

    The behavior of wheat-rye translocation chromosome and alien chromosome including Thinopyrum and Haynaldia chromosome at meiosis was investigated in two hybrids by fluorescence in situ hybridization (FISH). Misdivision of translocation chromosome at anaphase Ⅰ and rye chromatin micronucleus at tetrad stage were observed. A plant with one normal 1BL/1RS translocation chromosome and one 1BL/1RS translocation chromosome deleted about 1/3 of rye chromosome arm in length was identified. One plant with wheat-Thinopyrum non-Robertson translocation chromosome was also detected in the F2 population of Yi4212×Yi4095. That could be the results of unequal misdivision of wheat-rye 1BL/1RS translocation chromosome and Thinopyrum chromosome during meiosis. No interaction between translocation chromosome and alien chromosome at meiosis was supported by the data of the distribution frequencies of translocation chromosome and Thinopyrum or Haynaldia chromosome in the progeny of two hybrids. The results may be useful to cultivate new germplasms with different length of rye 1R short arm and wheat-alien non-Robertson translocation lines under wheat background.%利用荧光原位杂交技术分析了两个小麦-外源种杂种花粉母细胞中1BL/1RS 小麦-黑麦易位染色体和外源染色体包括中间偃麦草(Thinopyrum intermedium (Host) Barkworth & DR Dewey)、簇毛麦(Haynaldia villosa (L.) Schur)染色体的减数分裂行为. 我们首次发现:在减数分裂后期, 1BL/1RS 小麦-黑麦易位染色体发生错分裂,形成两个易位染色单体. 这种错分裂导致易位染色单体在末期Ⅰ分配到两个正在形成的细胞核内,错分裂的易位染色单体进一步形成微核,并在四分体期观察到黑麦的微核出现.从贵农22×遗4095 的F2代植株中检测到一个2n=41的植株,其含有一对1BL/1RS 小麦-黑麦易位染色体,核型分析表明,其中一条黑麦染色体臂比另一条的黑麦染色体臂短1/3左右.在遗4212

  9. Sequence analysis of the MYC oncogene involved in the t(8;14)(q24;q11) chromosome translocation in a human leukemia T-cell line indicates that putative regulatory regions are not altered

    International Nuclear Information System (INIS)

    The authors cloned the translocation-associated and homologous normal MYC alleles from SKW-3, a leukemia T-cell line with the t(8; 14)(q24; q11) translocation, and determined the sequence of the MYC oncogene first exon and flanking 5' putative regulatory regions. S1 nuclease protection experiments utilizing a MYC first exon probe demonstrated transcriptional deregulation of the MYC gene associated with the T-cell receptor α locus on the 8q + chromosome of SKW-3 cells. Nucleotide sequence analysis of the translocation-associated (8q +) MYC allele identified a single base substitution within the upstream flanking region; the homologous nontranslocated allele contained an additional substitution and a two-base deletion. None of the deletions or substitutions localized to putative 5' regulatory regions. The MYC first exon sequence was germ line in both alleles. These results demonstrate that alterations within the putative 5' MYC regulatory regions are not necessarily involved in MYC deregulation in T-cell leukemias, and they show that juxtaposition of the T-cell receptor α locus to a germ-line MYC oncogene results in MYC deregulation

  10. 小麦-簇毛麦属间染色体易位系的高效诱导%High Induction of Intergeneric Chromosome Translocation Lines Between Wheat and Haynaldia villosa

    Institute of Scientific and Technical Information of China (English)

    曹亚萍; 别同德; 陈佩度; 范绍强; 周元成; 张姝敏

    2011-01-01

    A set of materials with Triticum aestivum-Haynaldia villosa translocation chromosomes were created using cv. ‘ Chinese Spring’ (CS)as female and Triticum durum-Haynaldia villosa amphiploid as male whose pollen was treated with 60Co-γ-ray in different dose. Then the set of materials were backcrossed with CS or self-crossed, H.villosa chromosome segments were reserved in M1 or BC1so that alien genes were transferred into wheat. The results showed that frequency of induced translocation chromosomes were significant different using different irradiation doses of 60Co-γ-ray. The plants with T. aestivum-H. villosa translocations induced by 12 Gy and 8 Gy hold 76. 7%and 50. 0% in M1 generation,respectively, and better translocations types were induced by 60Co-γ-ray with 12 Gy dose. 67.6% of these translocations were passed from M1 to BC1 ,and 96. 4% from BC1 to BC2. Alien whole chromosomes were rapidly lost, some pure translocations were obtained in BC2F2.%利用60Coγ射线以不同剂量照射硬粒小麦-簇毛麦双二倍体即将成熟的花粉,将其授于母本中国春,创造出一批包含小麦-簇毛麦易住染色体的材料,对这些材料用中国春进行连续回交或自交,可有效保留簇毛麦染色体片段,实现外源基因的转移.研究结果表明,60Coγ射线照射花粉后产生易位染色体的频率因剂量不同而有显著差异,12 Gy和8 Gy剂量照射后杂交的M1群体中,产生小麦-簇毛麦易位染色体的单株分别占调查总数的76.7%和50.0%,均显著高于用其他方法创造易住的频率,并且12 Gy较8 Gy产生了更优的易住类型;创制的易位染色体有67.6%可以从M1传递到BC1,BC1的易位染色体有96.4%可传递到BC,;在回交后代中,加以人为选择,整条簇毛麦染色体很快丢失,至BC2F2即有纯合易位株出现.

  11. The Study on Induced Chromosome Translocation by Hybridized Among Wheat-Rye Disomic Substitution Lines%小麦-黑麦二体代换系间杂交诱导染色体易位的研究

    Institute of Scientific and Technical Information of China (English)

    李宇欣; 张利国; 厉永鹏; 李集临; 张延明

    2013-01-01

    Hybridization among wheat-rye disomic substitutions is an important way to induce wheat-rye translocation, which has important theory value and practical significance. In this study, translocation lines were bred from hybrid offspring that the hybridization of wheat-rye disomic substitution between 1R/1D, 5R/5A and 6R/6A. The results showed that F1 had 19 bivalents and 4 univalents in meiosis; homoeologous chromosome pairing and chromosome translocation phenomenon appeared. In F2, 24 common wheat types with rye traits plants were detected by genome in situ hybridization and obtained 10 plants with chromosomal translocation, and the translocation frequency was 41.6%. Translocation lines was 06-15-7, 06-16-3, 06-16-5, 06-16-7, 06-16-8, 06-17-7, 0617-11, 06-17-15, 06-17-16 and 06-18-5, respectively. Because parent selection and testing plant had a definite purpose, translocation plants could have a practical applications as well as the basis material for wheat breeding.%小麦-黑麦二体代换系间杂交,是诱导小麦-黑麦染色体易位的重要途径,有理论与应用价值。利用小麦-黑麦二体代换系1R/1D与5R/5A、6R/6A杂交,从杂交后代中,选育易位系。结果表明,F1减数分裂有19个二价体、4个单价体,有部分同源染色体配对和染色体易位现象;F2对普通小麦类型带有黑麦性状的24株杂交材料,进行原位杂交检测,共检测出10株有染色体易位,易位频率为41.6%。易位株系为:06-15-7、06-16-3、06-16-5、06-16-7、06-16-8、06-17-7、0617-11、06-17-15、06-17-16、06-18-5。由于亲本选配与植株检测有一定的目的性,易位植株均表现有应用价值,可作为小麦品种选育的基础材料。

  12. A dynamic meiotic SUN belt includes the zygotene-stage telomere bouquet and is disrupted in chromosome segregation mutants of maize (Zea mays L..

    Directory of Open Access Journals (Sweden)

    Shaun Patrick Murphy

    2014-07-01

    Full Text Available The nuclear envelope (NE plays an essential role in meiotic telomere behavior and links the cytoplasm and nucleoplasm during homologous chromosome pairing and recombination in many eukaryotic species. Resident NE proteins including SUN (Sad-1/UNC-84 and KASH (Klarsicht/ANC-1/Syne-homology domain proteins are known to interact forming the Linker of Nucleoskeleton and Cytoskeleton (LINC complex that connects chromatin to the cytoskeleton. To investigate the possible cross-kingdom conservation of SUN protein functions in plant meiosis, we immunolocalized maize SUN2 using 3D microscopy of pollen mother cells from maize (Zea mays L., a large-genome plant model with a canonical NE zygotene-stage telomere bouquet. We detected SUN2 at the nuclear periphery and found that it exhibited a distinct belt-like structure that transitioned to a half-belt during the zygotene stage and back to a full belt during and beyond the pachytene stage. The zygotene-stage half-belt SUN structure was shown by 3D immuno-FISH to include the NE-associated telomere cluster that defines the bouquet stage and coincides with homologous chromosome synapsis. Microtubule and filamentous actin staining patterns did not show any obvious belt or a retracted-like structure other than a general enrichment of tubulin staining distributed widely around the nucleus and throughout the cytoplasm. Genetic disruption of the meiotic SUN belt staining patterns with three different meiosis-specific mutants, desynaptic (dy1, asynaptic1 (as1, and divergent spindle1 (dv1 provides additional evidence for the role of the nuclear envelope in meiotic chromosome behavior. Taking into account all of the observations from this study, we propose that the maize SUN belt is directly or indirectly involved in meiotic telomere dynamics, chromosome synapsis, and possibly integration of signals and forces across the meiotic prophase nuclear envelope.

  13. Mitotic Spindle Disruption by Alternating Electric Fields Leads to Improper Chromosome Segregation and Mitotic Catastrophe in Cancer Cells

    OpenAIRE

    Moshe Giladi; Schneiderman, Rosa S; Tali Voloshin; Yaara Porat; Mijal Munster; Roni Blat; Shay Sherbo; Zeev Bomzon; Noa Urman; Aviran Itzhaki; Shay Cahal; Anna Shteingauz; Aafia Chaudhry; Kirson, Eilon D.; Uri Weinberg

    2015-01-01

    Tumor Treating Fields (TTFields) are low intensity, intermediate frequency, alternating electric fields. TTFields are a unique anti-mitotic treatment modality delivered in a continuous, noninvasive manner to the region of a tumor. It was previously postulated that by exerting directional forces on highly polar intracellular elements during mitosis, TTFields could disrupt the normal assembly of spindle microtubules. However there is limited evidence directly linking TTFields to an effect on mi...

  14. Fetal chromosome analysis: screening for chromosome disease?

    DEFF Research Database (Denmark)

    Philip, J; Tabor, Ann; Bang, J;

    1983-01-01

    A + B). Pregnant women 35 years of age, women who previously had a chromosomally abnormal child, families with translocation carriers or other heritable chromosomal disease, families where the father was 50 years or more and women in families with a history of Down's syndrome (group A), were...... unbalanced chromosome abnormality in group A (women with elevated risk) is significantly higher than in group B + C (women without elevated risk) (relative risk 2.4). Women with a known familial translocation and women 40 years or more have a relative risk of 5.7 of having an unbalanced chromosome......The aim of the study was to investigate the rationale of the current indications for fetal chromosome analysis. 5372 women had 5423 amniocentesis performed, this group constituting a consecutive sample at the chromosome laboratory, Rigshospitalet, Copenhagen from March 1973 to September 1980 (Group...

  15. Precursor B-Cell Acute Lymphoblastic Leukemia/Lymphoma with L3 Morphology, Philadelphia Chromosome, MYC Gene Translocation, and Coexpression of TdT and Surface Light Chains: A Case Report

    Directory of Open Access Journals (Sweden)

    Alicia C. Hirzel

    2013-01-01

    Full Text Available Acute lymphoblastic leukemia is predominantly found in children. It is a neoplasm of precursor cells or lymphoblasts committed to either a B- or T-cell lineage. The immature cells in B-acute lymphoblastic leukemia/lymphoma can be small or medium sized with scant or moderate cytoplasm and typically express B-cell markers such as CD19, cytoplasmic CD79a, and TdT without surface light chains. These markers, along with cytogenetic studies, are vital to the diagnosis, classification, and treatment of these neoplasms. We present an unusual case of a precursor B-cell ALL, in an 82-year-old woman, who presented with pancytopenia and widespread lymphadenopathy. The cells show L3 morphology (Burkitt-like lymphoma with coexpression of TdT and surface light chains in addition to an MYC gene translocation and Philadelphia chromosome.

  16. Disruption of the stress response in wastewater treatment works effluent-exposed three-spined sticklebacks persists after translocation to an unpolluted environment.

    Science.gov (United States)

    Pottinger, Tom G; Matthiessen, Peter

    2016-04-01

    The hypothalamic-pituitary-adrenal/interrenal (HPA/I) axis plays a key role in responding to biotic and abiotic challenges in all vertebrates. Recent studies have shown that the apical response of the HPI axis to stressors in three-spined sticklebacks varies in proportion to the concentration of wastewater treatment works (WWTW) effluent to which the fish are exposed. This study was conducted to determine whether between-site variation in stress responsiveness among WWTW effluent-exposed sticklebacks is persistent or reversible. Sticklebacks from eight sites in north-west England affected by WWTW effluent and exhibiting between-population variation in HPI axis reactivity, were moved to a clean-water aquarium environment. After five months in the contaminant-free environment the responsiveness of these fish to a standardised stressor was determined, by measuring the rate of stress-induced cortisol release across the gills, and compared with the responses of fish newly sampled from the eight original capture sites. Inter-site differences in the reactivity of the HPI axis, proportional to the effluent concentration at each site, persisted among the translocated female sticklebacks for at least 5 months. In male fish however, the direct relationship between stress responsiveness and site-specific effluent was not evident 5 months post-translocation. These results support previous observations that the HPA/I axis, a non-reproductive endocrine system, is vulnerable to modulation by anthropogenic factors in fish and show for the first time that, in female fish at least, this modulation is not transient. The mechanisms underlying these observations, and the implications for the fitness and resilience of affected populations, requires investigation. PMID:26821232

  17. Partners with reciprocal translocations: genetic counseling for the 'double translocation'.

    Science.gov (United States)

    Cook, L; Hartsfield, J K; Vance, G H

    1998-05-01

    SV at age 2 years presented with multiple congenital anomalies including an absent left kidney, anal stenosis, vertebral abnormalities, partial sacral agenesis, microcephaly, dysmorphic facial features, growth deficiency, and developmental delay. She was found to have a complex chromosomal rearrangement derived from balanced translocations in each parent. PMID:9660061

  18. Reciprocal chromosome translocation associated with TDNA-insertion mutation in Arabidopsis: genetic and cytological analyses of consequences for gametophyte development and for construction of doubly mutant lines

    OpenAIRE

    Curtis, Marc J.; Belcram, Katia; Stephanie R Bollmann; Tominey, Colin M.; Hoffman, Peter D.; Mercier, Raphael; Hays, John B.

    2008-01-01

    Chromosomal rearrangements may complicate construction of Arabidopsis with multiple TDNA-insertion mutations. Here, crossing two lines homozygous for insertions in AtREV3 and AtPOLH (chromosomes I and V, respectively) and selfing F1 plants yielded non-Mendelian F2 genotype distributions: frequencies of +/++/+ and 1/1 2/2 progeny were only 0.42 and 0.25%. However, the normal development and fertility of double mutants showed AtPOLH-1 and AtREV3-2 gametes and 1/1 2/2 embryos to be fully viable....

  19. Chromosomal rearrangements in cattle and pigs revealed by chromosome microdissection and chromosome painting

    Directory of Open Access Journals (Sweden)

    Yerle Martine

    2003-11-01

    Full Text Available Abstract A pericentric inversion of chromosome 4 in a boar, as well as a case of (2q-;5p+ translocation mosaicism in a bull were analysed by chromosome painting using probes generated by conventional microdissection. For the porcine inversion, probes specific for p arms and q arms were produced and hybridised simultaneously on metaphases of a heterozygote carrier. In the case of the bovine translocation, two whole chromosome probes (chromosome 5, and derived chromosome 5 were elaborated and hybridised independently on chromosomal preparations of the bull who was a carrier of the mosaic translocation. The impossibility of differentiating chromosomes 2 and der(2 from other chromosomes of the metaphases did not allow the production of painting probes for these chromosomes. For all experiments, the quality of painting was comparable to that usually observed with probes obtained from flow-sorted chromosomes. The results obtained allowed confirmation of the interpretations proposed with G-banding karyotype analyses. In the bovine case, however, the reciprocity of the translocation could not be proven. The results presented in this paper show the usefulness of the microdissection technique for characterising chromosomal rearrangements in species for which commercial probes are not available. They also confirmed that the main limiting factor of the technique is the quality of the chromosomal preparations, which does not allow the identification of target chromosomes or chromosome fragments in all cases.

  20. Next-generation sequencing of flow-sorted wheat chromosome 5D reveals lineage-specific translocations and widespread gene duplications

    Czech Academy of Sciences Publication Activity Database

    Lucas, S. J.; Akpinar, B. A.; Šimková, Hana; Kubaláková, Marie; Doležel, Jaroslav; Budak, H.

    2014-01-01

    Roč. 15, DEC 9 2014 (2014). ISSN 1471-2164 R&D Projects: GA ČR GBP501/12/G090 Institutional support: RVO:61389030 Keywords : Wheat genome * Chromosome sorting * Triticum aestivum Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 3.986, year: 2014

  1. 14q12 translocation in a non-Burkitt lymphoma.

    Directory of Open Access Journals (Sweden)

    Miyamoto,Kanji

    1981-10-01

    Full Text Available Chromosome analysis was performed on cells from a patient of null cell lymphoma, well-differentiated type. A 14q12 translocation was observed in all the banded cells. In addition, there were multiple chromosome abnormalities. This case will be useful in considering the significance of the 14q1(1-3 translocation in malignant lymphoma disease.

  2. Frequencies of Dicentric Chromosome and Translocation in Lymphocytes from Residents in Radio-contaminated Villages near Semipalatinsk Nuclear Explosion Test Site

    OpenAIRE

    Tanaka, Kimio; Iida, Shozho; Takeichi, Nobuo; Hoshi, Masaharu

    2012-01-01

    More than 400 above-ground and underground nuclear explosion tests were conducted at Semipalatinsk nuclear explosion test site (SNETS). The significant radioactive substances was released and radioactive plumes moved on villages at the time of explosion test, then residents in villages near SNETS are considered to be exposed internally and externally. In order to assess the biological effects on residents, frequencies of chromosome aberrations in peripheral blood lymphocytes were observed in ...

  3. Molecular mapping of chromosomes 17 and X

    Energy Technology Data Exchange (ETDEWEB)

    Barker, D.F.

    1989-01-01

    The basic aims of this project are the construction of high density genetic maps of chromosomes 17 and X and the utilization of these maps for the subsequent isolation of a set of physically overlapping DNA segment clones. The strategy depends on the utilization of chromosome specific libraries of small (1--15 kb) segments from each of the two chromosomes. Since the time of submission of our previous progress report, we have refined the genetic map of markers which we had previously isolated for chromosome 17. We have completed our genetic mapping in CEPH reference and NF1 families of 15 markers in the pericentric region of chromosome 17. Physical mapping results with three probes, were shown be in very close genetic proximity to the NF1 gene, with respect to two translocation breakpoints which disrupt the activity of the gene. All three of the probes were found to lie between the centromere and the most proximal translocation breakpoint, providing important genetic markers proximal to the NF1 gene. Our primary focus has shifted to the X chromosome. We have isolated an additional 30 polymorphic markers, bringing the total number we have isolated to over 80. We have invested substantial effort in characterizing the polymorphisms at each of these loci and constructed plasmid subclones which reveal the polymorphisms for nearly all of the loci. These subclones are of practical value in that they produce simpler and stronger patterns on human genomic Southern blots, thus improving the efficiency of the genetic mapping experiments. These subclones may also be of value for deriving DNA sequence information at each locus, necessary for establishing polymerase chain reaction primers specific for each locus. Such information would allow the use of each locus as a sequence tagged site.

  4. Chromosomal abnormalities in patients with sperm disorders

    Directory of Open Access Journals (Sweden)

    L. Y. Pylyp

    2013-02-01

    Full Text Available Chromosomal abnormalities are among the most common genetic causes of spermatogenic disruptions. Carriers of chromosomal abnormalities are at increased risk of infertility, miscarriage or birth of a child with unbalanced karyotype due to the production of unbalanced gametes. The natural selection against chromosomally abnormal sperm usually prevents fertilization with sperm barring in cases of serious chromosomal abnormalities. However, assisted reproductive technologies in general and intracytoplasmic sperm injection in particular, enable the transmission of chromosomal abnormalities to the progeny. Therefore, cytogenetic studies are important in patients with male factor infertility before assisted reproduction treatment. The purpose of the current study was to investigate the types and frequencies of chromosomal abnormalities in 724 patients with infertility and to estimate the risk of chromosomal abnormalities detection in subgroups of patients depending on the severity of spermatogenic disruption, aiming at identifying groups of patients in need of cytogenetic studies. Karyotype analysis was performed in 724 blood samples of men attending infertility clinic. Chromosomal preparation was performed by standard techniques. At least 20 GTG-banded metaphase plates with the resolution from 450 to 750 bands per haploid set were analysed in each case. When chromosomal mosaicism was suspected, this number was increased to 50. Abnormal karyotypes were observed in 48 (6.6% patients, including 67% of autosomal abnormalities and 33% of gonosomal abnormalities. Autosomal abnormalities were represented by structural rearrangements. Reciprocal translocations were the most common type of structural chromosomal abnormalities in the studied group, detected with the frequency of 2.6% (n = 19, followed by Robertsonian translocation, observed with the frequency of 1.2% (n = 9. The frequency of inversions was 0.6% (n = 4. Gonosomal abnormalities included 14 cases

  5. The role of the Philadelphia translocation in chronic myeloid leukemia

    OpenAIRE

    Geurts Van Kessel, Ad

    1983-01-01

    textabstractDuring the last two decades evidence for a close association between the presence of specific chromosomal abnormalities and the occurrence of several types of cancers and leukemias has accumulated. The Philadelphia (Ph 1) translocation, present in about 90% of the patients with chronic myeloid leukemia (CML), is one of the most typical and best documented examples of such an aberration. Usually this translocation involves chromosome 9 and 22: t(9;22)(q34;q11). The translocation pr...

  6. Mapping RFLP Loci in Maize Using B-a Translocations

    OpenAIRE

    Weber, D.; Helentjaris, T

    1989-01-01

    Plants hypoploid for specific segments of each of the maize (Zea mays L.) chromosomes were generated using 24 different B-A translocations. Plants carrying each of the B-A translocations were crossed as male parents to inbreds, and sibling progeny hypoploid or not hypoploid for specific chromosomal segments were recovered. Genomic DNAs from the parents, hypoploid progeny, and nonhypoploid (euploid or hyperploid) progeny for each of these B-A translocations were digested with restriction enzym...

  7. Fragility in the 14q21q translocation region

    Directory of Open Access Journals (Sweden)

    Stacy R. Denison

    2002-01-01

    Full Text Available Aphidicolin (APC-induced chromosomal breakage was analyzed for women representing three generations of a single family and carrying a Robertsonian translocation rob(14q21q. Fluorescence in situ hybridization (FISH analysis confirmed the dicentric constitution of the derived chromosome and indicated the absence of beta-satellite signal at the translocation region. Per-individual analysis of metaphases from APC-treated peripheral blood lymphocyte cultures identified significantly nonrandom chromosomal breakage at the translocation region in all three individuals examined. The APC-inducible fragility at the 14q21q translocation region suggests that this rearrangement was the result of chromosomal mutation at fragile site(s in the progenitor chromosomes, or that this fragility was the result of the fusion of nonfragile progenitor chromosomes.

  8. The Use of Double-Monotelodisomics to Identify Translocations in Triticum aestivum

    DEFF Research Database (Denmark)

    Linde-Laursen, Ib; Larsen, J.

    1974-01-01

    By analysing metaphase I of double-monotelodisomic hybrids between two varieties of hexaploid wheat differentiated by reciprocal translocations it is possible to establish reliably the chromosomes involved in each translocation. Also the chromosome parts translocated may be identified. The use of...

  9. The YopB protein of Yersinia pseudotuberculosis is essential for the translocation of Yop effector proteins across the target cell plasma membrane and displays a contact-dependent membrane disrupting activity.

    Science.gov (United States)

    Håkansson, S; Schesser, K; Persson, C; Galyov, E E; Rosqvist, R; Homblé, F; Wolf-Watz, H

    1996-11-01

    During infection of cultured epithelial cells, surface-located Yersinia pseudotuberculosis deliver Yop (Yersinia outer protein) virulence factors into the cytoplasm of the target cell. A non-polar yopB mutant strain displays a wild-type phenotype with respect to in vitro Yop regulation and secretion but fails to elicit a cytotoxic response in cultured HeLa cells and is unable to inhibit phagocytosis by macrophage-like J774 cells. Additionally, the yopB mutant strain was avirulent in the mouse model. No YopE or YopH protein were observed within HeLa cells infected with the yopB mutant strain, suggesting that the loss of virulence of the mutant strain was due to its inability to translocate Yop effector proteins through the target cell plasma membrane. Expression of YopB is necessary for Yersinia-induced lysis of sheep erythrocytes. Purified YopB was shown to have membrane disruptive activity in vitro. YopB-dependent haemolytic activity required cell contact between the bacteria and the erythrocytes and could be inhibited by high, but not low, molecular weight carbohydrates. Similarly, expression of YopE reduced haemolytic activity. Therefore, we propose that YopB is essential for the formation of a pore in the target cell membrane that is required for the cell-to-cell transfer of Yop effector proteins. PMID:8918459

  10. Inhibition of Epithelial CC-Family Chemokine Synthesis by the Synthetic Chalcone DMPF-1 via Disruption of NF-κB Nuclear Translocation and Suppression of Experimental Asthma in Mice

    Directory of Open Access Journals (Sweden)

    Revathee Rajajendram

    2015-01-01

    Full Text Available Asthma is associated with increased pulmonary inflammation and airway hyperresponsiveness. The interaction between airway epithelium and inflammatory mediators plays a key role in the pathogenesis of asthma. In vitro studies evaluated the inhibitory effects of 3-(2,5-dimethoxyphenyl-1-(5-methylfuran-2-ylprop-2-en-1-one (DMPF-1, a synthetic chalcone analogue, upon inflammation in the A549 lung epithelial cell line. DMPF-1 selectively inhibited TNF-α-stimulated CC chemokine secretion (RANTES, eotaxin-1, and MCP-1 without any effect upon CXC chemokine (GRO-α and IL-8 secretion. Western blot analysis further demonstrated that the inhibitory activity resulted from disruption of p65NF-κB nuclear translocation without any effects on the mitogen-activated protein kinase (MAPK pathway. Treatment of ovalbumin-sensitized and ovalbumin-challenged BALB/c mice with DMPF-1 (0.2–100 mg/kg demonstrated significant reduction in the secretion and gene expression of CC chemokines (RANTES, eotaxin-1, and MCP-1 and Th2 cytokines (IL-4, IL-5, and IL-13. Furthermore, DMPF-1 treatment inhibited eosinophilia, goblet cell hyperplasia, peripheral blood total IgE, and airway hyperresponsiveness in ovalbumin-sensitized and ovalbumin-challenged mice. In conclusion, these findings demonstrate the potential of DMPF-1, a nonsteroidal compound, as an antiasthmatic agent for further pharmacological evaluation.

  11. A de novo Reciprocal X; 9 Translocation in A Patient with Premature Ovarian Failure

    Directory of Open Access Journals (Sweden)

    Faezeh Azizi

    2013-01-01

    Full Text Available Premature ovarian failure (POF causes hypergonadotrophic amenorrhea in 1-3%of females, occurring before the age of 40 among women with chromosomal rearrangementsin the long arm of the X chromosome 'critical region'. In this article,we report a case of POF and primary amenorrheain a girl with a de novo reciprocaltranslocation between chromosomes X and 9. The proband was a 17 years oldgirl with a history of irregular menstruation and high level of follicle-stimulatinghormone (FSH (151 mlU/mL and luteinizing hormone (LH (56 mlU/mL. In ultrasoundexamination, left ovarian gonad was atrophic without any follicles. Rightovarian gonad was not seen. Cytogenetical analysis was performed on the patientand her parents. Her karyotype results was 46, X, rcp (X; 9 (q24; q13 dn. Herparents had normal karyotype. This reciprocal translocation between chromosomeX and 9 and observed POF in the patient suggest either the disruption of a criticalgene expression due to 'position effect' or deletion of one or more POF-related genesin the disrupted long arm of the affected X chromosome.

  12. Translocation Renal Cell Carcinomas in Adults: A Single Institution Experience

    OpenAIRE

    Zhong, Minghao; De Angelo, Patricia; Osborne, Lisa; Mondolfi, Paniz; Geller, Matthew; Yang, Youfeng; Linehan, W. Marston; Merino, Maria J.; Cordon-Cardo, Carlos; Cai, Dongming

    2012-01-01

    Translocation renal cell carcinoma is a newly recognized subtype of renal cell carcinoma (RCC) with chromosomal translocations involving TFE3 (Xp11.2) or, less frequently, TFEB (6p21). Xp11 translocation RCC was originally described as a pediatric neoplasm representing 20–40% of pediatric RCCs with a much lower frequency in the adult population. TFEB translocation RCC is very rare, with approximately 10 cases reported in the literature. Here, we describe the clinicopathological features of ad...

  13. Cloning of the Koi Herpesvirus Genome as an Infectious Bacterial Artificial Chromosome Demonstrates That Disruption of the Thymidine Kinase Locus Induces Partial Attenuation in Cyprinus carpio koi▿

    Science.gov (United States)

    Costes, B.; Fournier, G.; Michel, B.; Delforge, C.; Raj, V. Stalin; Dewals, B.; Gillet, L.; Drion, P.; Body, A.; Schynts, F.; Lieffrig, F.; Vanderplasschen, A.

    2008-01-01

    Koi herpesvirus (KHV) is the causative agent of a lethal disease in koi and common carp. In the present study, we describe the cloning of the KHV genome as a stable and infectious bacterial artificial chromosome (BAC) clone that can be used to produce KHV recombinant strains. This goal was achieved by the insertion of a loxP-flanked BAC cassette into the thymidine kinase (TK) locus. This insertion led to a BAC plasmid that was stably maintained in bacteria and was able to regenerate virions when permissive cells were transfected with the plasmid. Reconstituted virions free of the BAC cassette but carrying a disrupted TK locus (the FL BAC-excised strain) were produced by the transfection of Cre recombinase-expressing cells with the BAC. Similarly, virions with a wild-type revertant TK sequence (the FL BAC revertant strain) were produced by the cotransfection of cells with the BAC and a DNA fragment encoding the wild-type TK sequence. Reconstituted recombinant viruses were compared to the wild-type parental virus in vitro and in vivo. The FL BAC revertant strain and the FL BAC-excised strain replicated comparably to the parental FL strain. The FL BAC revertant strain induced KHV infection in koi carp that was indistinguishable from that induced by the parental strain, while the FL BAC-excised strain exhibited a partially attenuated phenotype. Finally, the usefulness of the KHV BAC for recombination studies was demonstrated by the production of an ORF16-deleted strain by using prokaryotic recombination technology. The availability of the KHV BAC is an important advance that will allow the study of viral genes involved in KHV pathogenesis, as well as the production of attenuated recombinant candidate vaccines. PMID:18337580

  14. Epstein–Barr virus growth-transformed cells are converted to malignancy following transfection of a 1.3-kb CATR1 antisense construct independent of a change in the level of c-myc expression followed by a 8;14 chromosomal translocation

    OpenAIRE

    Li, Dawei; Sun, Xiao Li; Casto, Bruce; Fang, Jin; Theil, Karl; Glaser, Ronald; Milo, George

    1998-01-01

    The AGLCL Epstein–Barr virus (EBV) growth-transformed cell line is incapable of inducing tumors in nude mice. When the cells were transfected with a 1.3-kb CATR1 antisense cDNA construct, progressively growing lymphomas could be induced in nude mice. Chromosome analysis of the parental, transfected, and tumor cells revealed that a chromosomal translocation t(8;14)(q24.1;q32) had occurred in the transfected cells and was retained in cells derived from tumors. Moreover, enhanced c-myc expressio...

  15. Study of a familial insertional translocation involving chromosomes 1 and 7 by using fluorescence in situ hybridization%一个涉及1号和7号染色体插入易位家系的鉴定

    Institute of Scientific and Technical Information of China (English)

    谭跃球; 李秀蓉; 李麓芸; 卢光璓

    2001-01-01

    Objective To determine the karyotype of a case with a history of spontaneous abortion and terminal deletion by using of conventional G-banding method and search the cause of insertional translocation of chromosomal terminal region. Methods Fluorescence in situ hybridization (FISH) technique was performed to analyze the case by using whole chromosome 7 painting probe and subterminal probe of 7q36→qter which was generated by chromosome microdissection technique. Results  The case was a carrier with a very rare insertional translocation involving chromosomes 1 and 7. The region of chromosome 7q36→qter was not inserted into chromosome 1. The abnormal chromosome was inherited from her mother. Conclusion  The present authors provided an experiment evidence that in this case the chromosome insertional translocation including the terminal region was still a three breakage rearrangement and the terminal deletion found by cytogenetics should be an interstitial deletion. Combining with chromosome microdissection, FISH technique is a powerful diagnostic method for detecting the chromosome structural abnormality.%目的确定一个有反复流产史且常规G显带发现有7q末端缺失病例的核型,探讨染色体末端区域插入易位的形成机理。方法应用显微切割制备的7号特异性全染色体探针和7q亚端粒(7q36→qter)探针,与病例的中期分裂相进行荧光原位杂交(fluorescence in situ hybridization, FISH)。结果发现了该病例为常规G显带难以发现的1号和7号染色体之间的插入易位,7q36→qter区域没有插入到1号染色体中,其异常核型来源于其母亲。结论为染色体末端区域的插入易位仍然为一个三断裂重排,细胞遗传学上见到的末端缺失为中间缺失提供了实验证据,FISH与显微切割技术相结合,是检出染色体微小结构异常的一个强有力的工具。

  16. Chromosomal rearrangements in cattle and pigs revealed by chromosome microdissection and chromosome painting

    OpenAIRE

    Yerle Martine; Ducos Alain; Pinton Alain

    2003-01-01

    Abstract A pericentric inversion of chromosome 4 in a boar, as well as a case of (2q-;5p+) translocation mosaicism in a bull were analysed by chromosome painting using probes generated by conventional microdissection. For the porcine inversion, probes specific for p arms and q arms were produced and hybridised simultaneously on metaphases of a heterozygote carrier. In the case of the bovine translocation, two whole chromosome probes (chromosome 5, and derived chromosome 5) were elaborated and...

  17. Study on Homoeologous Chromosome Pairing and Translocation Induced by 5A/5R×6A/6R Wheat-Rye Substitution Lines%小麦-黑麦代换系5A/5R与6A/6R杂交诱导同祖染色体配对与易位的研究

    Institute of Scientific and Technical Information of China (English)

    李集临; 王晓萍; 钟丽; 徐香玲

    2006-01-01

    利用两个小麦-黑麦异源双代换系DS 5A/5R与DS 6A/6R杂交,探讨同祖染色体配对的可能性与创制小麦黑麦异源易位系.在方法上对杂种F1的减数分裂行为进行研究,观察5R与5A、6R与6A配对频率,探讨同祖染色体配对规律.实验结果看到:杂交F1减数分裂中有22.91%的花粉母细胞有小麦染色体(ABD组)与黑麦染色体(R组)发生同祖配对.在F2及以后世代,通过染色体C分带、原位杂交检测,选择小麦-黑麦易位系.在F2代的45株中检测到9株有易位,易位频率为20%,是目前小麦-黑麦染色体易位频率最高的.染色体易位有的来源于同祖配对的交换,有的来源于单价体错分裂或断裂的重建.%This article aims to study the homoeologous chromosome pairing and translocation induced by 5A/5R×6A/6R wheat-rye substitution lines. To clarify the mechanism of homoeologous chromosome pairing and create wheat-rye translocation lines, two wheat-rye substitution lines, 5A/5R and 6A/6R were crossed. The chromosome behavior of pollen mother cells (PMCs) in meiosis was investigated in hybrid F1. Homoeologous chromosome pairing between wheat and rye occurred in 22.9 1% of PMC. Wheat-rye translocation lines were identified via C-banding and in situ hybridization (GISH) in hybrid F2 and later generations. In F2 generation, translocations happened in 9 of 45 plants, reached to 20%. These translocation lines were generated from homoeologous chromosome pairing, or mis-division and reconstruction of univalent chromosomes.

  18. 8-14 translocation in a Japanese Burkitt's lymphoma.

    OpenAIRE

    Miyamoto,Kanji; Sato, Jiro; Miyoshi, Isao; Nishihara,Ryuji; Terao, Seiya; Hara, Masamichi; Kimura,Ikuro

    1980-01-01

    Chromosome analysis was performed on cells obtained from the pleural effusion of a Japanese patient with Burkitt's lymphoma. Two modal chromosomal numbers were found: 45 and 46. Five different karyotypes were present, all having a t (8q-;14q+) translocation. This case illustrates that Burkitt's lymphomas of Japanese are no exception to the frequent association of this chromosomal abnormality with Burkitt's lymphomas.

  19. Genetic reporter system for oncogenic Igh–Myc translocations in mice

    OpenAIRE

    Takizawa, M.; Kim, JS; Tessarollo, L; McNeil, N; Waldschmidt, TJ; Casellas, R; Ried, T; Janz, S.

    2010-01-01

    The Myc-deregulating chromosomal T(12;15)(Igh–Myc) translocation, the hallmark mutation of inflammation- and interleukin 6-dependent mouse plasmacytoma (PCT), is the premier model of cancer-associated chromosomal translocations because it is the only translocation in mice that occurs spontaneously (B lymphocyte lineage) and with predictably high incidence (~85% of PCT), and has a direct counterpart in humans: Burkitt lymphoma t(8;14)(q24;q32) translocation. Here, we report on the development ...

  20. Human Lymphoid Translocation Fragile Zones Are Hypomethylated and Have Accessible Chromatin

    OpenAIRE

    Lu, Zhengfei; Lieber, Michael R.; Tsai, Albert G.; Pardo, Carolina E.; Müschen, Markus; Kladde, Michael P.; Hsieh, Chih-Lin

    2015-01-01

    Chromosomal translocations are a hallmark of hematopoietic malignancies. CG motifs within translocation fragile zones (typically 20 to 600 bp in size) are prone to chromosomal translocation in lymphomas. Here we demonstrate that the CG motifs in human translocation fragile zones are hypomethylated relative to the adjacent DNA. Using a methyltransferase footprinting assay on isolated nuclei (in vitro), we find that the chromatin at these fragile zones is accessible. We also examined in vivo ac...

  1. Characterization of a t(5;8)(q31;q21) translocation in a patient with mental retardation and congenital heart disease: implications for involvement of RUNX1T1 in human brain and heart development

    OpenAIRE

    ZHANG, LITU; Tümer, Zeynep; Møllgård, Kjeld; Barbi, Gotthold; Rossier, Eva; Bendsen, Eske; Møller, Rikke Steensbjerre; Ullmann, Reinhard; He, Jian; Papadopoulos, Nickolas; Tommerup, Niels; Larsen, Lars Allan

    2009-01-01

    The chromosome break points of the t(8;21)(q21.3;q22.12) translocation associated with acute myeloid leukemia disrupt the RUNX1 gene (also known as AML1) and the RUNX1T1 gene (also known as CBFA2T3, MTG8 and ETO) and generate a RUNX1–RUNX1T1 fusion protein. Molecular characterization of the translocation break points in a t(5;8)(q32;q21.3) patient with mild-to-moderate mental retardation and congenital heart disease revealed that one of the break points was within the RUNX1T1 gene. Analysis o...

  2. The Use of Double-Monotelodisomics to Identify Translocations in Triticum aestivum

    DEFF Research Database (Denmark)

    Linde-Laursen, Ib; Larsen, J.

    1974-01-01

    By analysing metaphase I of double-monotelodisomic hybrids between two varieties of hexaploid wheat differentiated by reciprocal translocations it is possible to establish reliably the chromosomes involved in each translocation. Also the chromosome parts translocated may be identified. The use of...... the double-monotelodisomic method should be especially valuable when the monosomic method has identified four or more chromosomes participating in multivalent formation in roughly similar frequencies. The method was used to confirm the 5BL-7BL translocation differentiating Cappelle Desprez from...... Chinese Spring and Starke and to show a 7AL-7DS translocation differentiating Starke from Cappelle Desprez and Chinese Spring....

  3. Clinical investigation to compare aCGH and FISH in preimplantationgenetic diagnosis of chromosome translocation carriers%微阵列芯片比较基因组杂交技术在染色体易位携带者胚胎植入前遗传学诊断中的应用

    Institute of Scientific and Technical Information of China (English)

    谢言信; 徐艳文; 苗本郁; 曾艳红; 王静; 周灿权

    2014-01-01

    Robertsonian translocation carrier couples,including 33 cycles for reciprocal translocation carriers and 22 cycles for Robertsonian translocation carriers performed using array CGH,and 119 cycles for reciprocal translocation carriers and 46 cycles for Robertsonian translocation carriers performed using FISH were retrospectively studied.The rate of accurate diagnosis was compared between two methods.Results Normal and/or balance rates of the two translocated chromosomes detected by aCGH for both reciprocal and Robertsonian translocation carriers were 38.20% (123/322) and 67.20% (127/189),significantly higher than 15.39% (195/1 267) and 30.75% (202/657) by FISH (all P <0.05).Abnormal rates of the two translocated chromosomes detected by aCGH for both reciprocal and Robertsonian translocation carriers were 59.32% (191/322) and 30.69% (58/189),significantly lower than 83.03% (1 052/1 267) and 67.43% (443/657) by FISH (all P < 0.05).And the rate of aneu ploidy in non-translocated chromosome from reciprocal translocation embryos was 20.19% (65/322),which was significantly lower than 38.62% (13/189) from Robertsonian translocation embryos (P < 0.01).Conclusions Normal and/or balance rates of the two translocated chromosomes detected by array CGH were significantly higher than FISH.And the rate of aneuploidy in non-translocated chromosomes from reciprocal translocation embryos was significantly lower than that from Robertsonian translocation embryos.

  4. Effects of the 6VS/6AL Translocation Chromosome on Agronomic Characteristics of Wheat%小麦-簇毛麦6VS/6AL易位染色体对小麦农艺性状的影响

    Institute of Scientific and Technical Information of China (English)

    李桂萍; 陈佩度; 张守忠; 赵和

    2011-01-01

    利用3类试验材料,即由不同生态类型的推广品种与小麦-簇毛麦6VS/6AL易位系经过杂交回交选育的高代品系(种),3份涉及6VS/6AL的高代分离品系以及5个以小麦-簇毛麦6VS/6AL易位系作杂交亲本的F2群体,对含有与不含有6VS/6AL易位染色体材料的产量、株高、穗长、德粒数、穗粒重和千粒重等农艺性状进行方差分析.结果表明,6VS/6AL易位染色体对后代的小穗数、穗粒数、穗粒重和产量等农艺性状没有表现出明显的影响,对穗长和千粒重表现出一定的正向效应.多数6VS/6AL衍生品系的株高与亲本相比有所增加,但在同一组合的不同品系之间表现出一定的差异,在育种过程中通过选择可改变增高趋势.6VS/6AL易位系对白粉病免疫,并且遗传稳定,对小麦的抗病育种是很有潜力的抗源亲本.%Three types of materials were selected including derived advanced lines carrying 6VS/6AL translo-cation chromosome and their respective parents, three segregation advanced lines and five F2 population derived from wheat-H, villosa 6VS/6AL translocation line. The F-test of their agronomic characteristics were done using the SAS8. 2 System. The results showed that there were no significant differences between 6VS/6AL lines and their recurrent parents in agronomic traits, including grain yield, spikelets, grains/spike and grain weight/spike. 6VS/ 6AL lines showed slightly but significantly higher 1000-grain weight and spike length. Most 6VS/6AL derivatives showed higher plant height than their control parents. However, significant variation occurred for this trait among sister lines from the same cross, indicating that additional selection could lead to further improvements. It was concluded that the 6VS/6AL translocation can be used in wheat breeding programs as a donor of resistance to powdery mildew with no obvious undesirable effects on agronomic characteristics.

  5. Measurement of background translocation frequencies in individuals with clones

    Energy Technology Data Exchange (ETDEWEB)

    Wade, M.J.

    1996-08-01

    In the leukemia case the unseparated B and T lymphocytes had a high translocation frequency even after 0.0014, respectively. After purging all clones from the data, the translocation frequencies for Bio 8 and Bio 23 were 0.00750.0014 and 0.0073 metaphases were scored for chromosomal aberrations,, specifically reciprocal translocations, using fluorescence in situ hybridization (FISH). Metaphase spreads were used from two healthy, unexposed individuals (not exposed to radiation, chemotherapy or radiotherapy) and one early B- precursor acute lymphocytic leukemia (ALL) patient (metaphase spreads from both separated T lymphocytes and unseparated B and T lymphocytes were scored). All three individuals had an abnormally high translocation frequency. The high translocation frequencies resulted from clonal expansion of specific translocated chromosomes. I show in this thesis that by purging (discounting or removing) clones from the data of unexposed individuals, one can obtain true background translocation frequencies. In two cases, Bio 8 and Bio 23, the measured translocation frequency for chromosomes 1, 2 and 4 was 0.0124 purging all of the clones from the data. This high translocation frequency may be due to a low frequency of some clones and may not be recognized. The separated T lymphocytes had a higher translocation frequency than expected.

  6. 普通小麦-大赖草-簇毛麦异附加、易位系的选育和鉴定%Development of Wheat-alien Lines with Added Leymus racemosus Chromosomes and 6VS/6AL Translocation Chromosomes

    Institute of Scientific and Technical Information of China (English)

    陈发棣; 陈佩度; 王苏玲

    2001-01-01

    By chromosome C-banding and bi-color fluorescence in situhybridization (FISH) using digoxigenin-labelled total genomic DNA of Leymus racemosus (Lam.) Tzvel. and biotinylated total genomic DNA of Haynaldia villosa (L.) Schur as probes, three wheat-alien lines with L. racemosus Lr.7 addition and H. villosa 6VS/6AL translocated chromosomes, and eight lines with L. racemosus Lr.14 addition and H. villosa 6VS/6AL translocated chromosomes were respectively identified from DALr.7×T6VS/6AL (93G51-4×P64) and DALr.14×T6VS/6AL (94G15×P64) F2 or F3 hybrids. Fluorescein-isothiocyanate-conjugated avidin and rhodamine-conjugated sheep anti-digoxigenin Fab fragment were used in bi-color FISH detection. The chromosomes of L.racemosus and 6VS fragment of H. villosa were simultaneously detected by their red and green fluorescence. Powdery mildew and scab resistance were also evaluated. The result showed that the obtained plants had high resistance to these two diseases. The potential usage of bi-color FISH in identifying chromatin of L.racemosus and H.villosa was discussed.%利用根尖细胞(RTC)有丝分裂中期染色体和花粉母细胞减数分裂中期Ⅰ(PMCMⅠ)染色体C分带和以生物素标记的簇毛麦基因组DNA及以地高辛标记的大赖草基因组DNA为探针的双色荧光原位杂交(bi-colorFISH),从DALr.7×T6VS/6AL(93G51-4×P64)F2和F3群体中筛选出3株普通小麦(Triticum aestivum L.)-大赖草(Leymus racemosus (Lam.) Tzvel.)Lr.7二体附加、普通小麦-簇毛麦(Haynaldia villosa (L.)Schur)6VS/6AL易位系;从DALr.14×T6VS/6AL(94G15×P64)F2和F3群体中选出8株普通小麦-大赖草Lr.14二体附加、普通小麦-簇毛麦6VS/6AL易位系。通过温室白粉病抗性鉴定和单花滴注赤霉病抗性鉴定,结果表明:所选育的普通小麦-大赖草-簇毛麦异附加、易位系对白粉病表现免疫,对赤霉病有较高抗性。还对利用双色FISH鉴定大赖草和簇毛麦染色质的

  7. Fragility in the 14q21q translocation region

    OpenAIRE

    Stacy R. Denison; Multani, Asha S.; Sen Pathak; Ira F. Greenbaum

    2002-01-01

    Aphidicolin (APC)-induced chromosomal breakage was analyzed for women representing three generations of a single family and carrying a Robertsonian translocation rob(14q21q). Fluorescence in situ hybridization (FISH) analysis confirmed the dicentric constitution of the derived chromosome and indicated the absence of beta-satellite signal at the translocation region. Per-individual analysis of metaphases from APC-treated peripheral blood lymphocyte cultures identified significantly nonrandom c...

  8. Molecular mapping of chromosomes 17 and X. Progress report

    Energy Technology Data Exchange (ETDEWEB)

    Barker, D.F.

    1989-12-31

    The basic aims of this project are the construction of high density genetic maps of chromosomes 17 and X and the utilization of these maps for the subsequent isolation of a set of physically overlapping DNA segment clones. The strategy depends on the utilization of chromosome specific libraries of small (1--15 kb) segments from each of the two chromosomes. Since the time of submission of our previous progress report, we have refined the genetic map of markers which we had previously isolated for chromosome 17. We have completed our genetic mapping in CEPH reference and NF1 families of 15 markers in the pericentric region of chromosome 17. Physical mapping results with three probes, were shown be in very close genetic proximity to the NF1 gene, with respect to two translocation breakpoints which disrupt the activity of the gene. All three of the probes were found to lie between the centromere and the most proximal translocation breakpoint, providing important genetic markers proximal to the NF1 gene. Our primary focus has shifted to the X chromosome. We have isolated an additional 30 polymorphic markers, bringing the total number we have isolated to over 80. We have invested substantial effort in characterizing the polymorphisms at each of these loci and constructed plasmid subclones which reveal the polymorphisms for nearly all of the loci. These subclones are of practical value in that they produce simpler and stronger patterns on human genomic Southern blots, thus improving the efficiency of the genetic mapping experiments. These subclones may also be of value for deriving DNA sequence information at each locus, necessary for establishing polymerase chain reaction primers specific for each locus. Such information would allow the use of each locus as a sequence tagged site.

  9. Putative cruciform DNA structures at BCL6 breakpoint region may explain BCL6 translocation in diffuse large B-Cell lymphoma

    International Nuclear Information System (INIS)

    Cancer is a disease characterized by uncontrolled proliferation of cells, caused by genetic alterations such as chromosomal translocations, which are present in almost all hematological malignancies. Diffuse Large B-cell Lymphoma (DLBL) is the most common non-Hodgkin's lymphoma, comprising 40-50% of all lymphomas both in India and worldwide, and is characterized by BCL6 chromosomal translocation. However, the mechanism of this translocation is completely unknown. By mapping of translocation breakpoints from patients, we have identified three breakpoint cluster regions at 5' UTR of BCL6 gene. Bioinformatics analysis of cluster II, which possesses majority of breakpoints, this region may form cruciform DNA structures. Gel mobility shift assays using oligomeric DNA from the region suggested that a portion of cluster II folded into hairpin structures. Mutations to the wild type sequences disrupted hairpin formation. Circular dichroism studies on BCL6 oligomers resulted in a spectra containing two overlapping peaks at 265 nm and 285 nm, confirming hairpin structure. Further, the structure was destroyed upon heating, and reformed when appropriate conditions were provided. P1 nuclease assay in conjunction with KMnO4 probing suggested that the structure possessed an eight nucleotide double-stranded stem and a nine nucleotide loop. To further understand the mechanism of BCL6 translocation in vivo, human cells were transfected with episomes harboring cluster II region and the results obtained will be discussed. Hence, our results suggest the formation of a putative cruciform DNA structure at BCL6 breakpoint region and that may facilitate breakage at BCL6 gene explaining chromosomal translocations in DLBL. (author)

  10. Treatment with Sodium Orthovanadate Reduces Blood-Brain Barrier Disruption via Phosphatase and Tensin Homolog Deleted on Chromosome 10 (PTEN) Phosphorylation in Experimental Subarachnoid Hemorrhage

    OpenAIRE

    Hasegawa, Yu; Suzuki, Hidenori; Altay, Orhan; Chen, Hank; Zhang, John H.

    2011-01-01

    Attenuation of blood-brain barrier (BBB) disruption is one of the therapeutic candidates for treatment of subarachnoid hemorrhage (SAH). In this study, the protective effect of sodium orthovanadate (SOV) on BBB disruption was investigated in SAH using the endovascular perforation model. Fifty-five rats were randomly assigned to sham-operated, SAH treated with saline (as a vehicle) or 10mg/kg SOV groups, and evaluated for neurofunction and Evans blue dye extravasation. The phosphorylation of p...

  11. Meiotic behaviour of two human reciprocal translocations.

    OpenAIRE

    Egozcue, J; S Marina; Templado, C

    1981-01-01

    The meiotic behaviour of two male human reciprocal translocations is described. One patient had an unbalanced son and a chain configuration. The second had a stillborn child and a ring corresponding to an adjacent I segregation. The meiotic behaviour of chromosomal rearrangements must be investigated for proper genetic counselling.

  12. Breeding of Chromosome Translocation Line and F1 Hybrid with Reduced Seed in the Fruit of Watermelon%诱变选育西瓜染色体易位系的步骤及其杂交1代少籽组合的选配

    Institute of Scientific and Technical Information of China (English)

    吴进义; 吴逸华; 谢锡林

    2013-01-01

    用60Coγ射线辐照干种子诱变培育西瓜染色体易位系,并用其进行选配少籽杂交子1代研究,对克服三倍体无籽西瓜种子发芽率低、成苗率低、制种成本高、育苗技术较复杂的缺陷具有重要的意义;易位系杂交子1代西瓜保持了二倍体杂交1代的优良特性,减少了单瓜籽粒数,提高了果实可溶性固形物含量,从而提高了西瓜品质和商品价值.详细介绍了诱变选育西瓜易位系的步骤和技术、易位系的特征特性和优良的西瓜染色体易位杂交1代组合,并针对选育的科丰黑美人、红牡丹等易位系杂交1代分析阐述了染色体易位系杂交一代的优点和应用前景.%The hybrids of watermelon chromosome translocation lines induced by 60Coγ radiation can produce fruit with few seed. This is a favorable option over the triploid seedless watermelon with the challenges of low germination, poor seedling establishment,high cost of seed production,and high technical requirement of transplant production. The F1 hybrid of chromosome translocation lines,in addition to the benefits of regular diploids hybrids,produce fruits with significantly reduced number of seed but increased soluble solid contents,therefore better fruit quality and commercial value. We here describe the procedure and techniques of chromosome translocation induction and selection. We use the examples of Kefeng Heimeiren and Hong Mudan to illustrate the benefits and application of hybrid watermelon with chromosome translocation.

  13. Reciprocal translocation 14q;21q in a patient with the Brachmann-de Lange syndrome.

    OpenAIRE

    Wilson, W G; Kennaugh, J M; Kugler, J P; Wyandt, H E

    1983-01-01

    A patient with the Brachmann-de Lange syndrome was found to have an apparently balanced de novo translocation 14q; 21q. The relationship between this uncommon translocation and the patient's phenotype is unclear. Although most patients with the Brachmann-de Lange syndrome have normal chromosomes, the possibility of aetiological heterogeneity, including some rare chromosomal abnormalities, cannot be dismissed.

  14. X monosomy and balanced Robertsonian translocation in a girl with Turner Syndrome

    Directory of Open Access Journals (Sweden)

    Aline Lourenço da Silva

    2006-01-01

    Full Text Available We describe a case of X monosomy associated with a maternally inherited t(13;14 Robertsonian translocation in a girl with Turner syndrome. The girl's X chromosome was demonstrated to be maternally inherited, ruling out the hypothesis that the translocation exerted an interchromosomal effect on the origin of the monosomy. Chromosomes 13 and 14 showed biparental inheritance.

  15. Tn5401 disruption of the spo0F gene, identified by direct chromosomal sequencing, results in CryIIIA overproduction in Bacillus thuringiensis.

    OpenAIRE

    Malvar, T.; Baum, J A

    1994-01-01

    The Bacillus thuringiensis spo0F gene was identified by chromosomal DNA sequencing of sporulation mutants derived from a B. thuringiensis transposon insertion library. A spo0F defect in B. thuringiensis, which was suppressed by multicopy hknA or kinA, resulted in the overproduction of the CryIIIA insecticidal crystal protein.

  16. Telomere dysfunction and chromosome instability

    Energy Technology Data Exchange (ETDEWEB)

    Murnane, John P., E-mail: jmurnane@radonc.ucsf.edu [Department of Radiation Oncology, University of California San Francisco, 2340 Sutter Street, San Francisco, CA 94143-1331 (United States)

    2012-02-01

    The ends of chromosomes are composed of a short repeat sequence and associated proteins that together form a cap, called a telomere, that keeps the ends from appearing as double-strand breaks (DSBs) and prevents chromosome fusion. The loss of telomeric repeat sequences or deficiencies in telomeric proteins can result in chromosome fusion and lead to chromosome instability. The similarity between chromosome rearrangements resulting from telomere loss and those found in cancer cells implicates telomere loss as an important mechanism for the chromosome instability contributing to human cancer. Telomere loss in cancer cells can occur through gradual shortening due to insufficient telomerase, the protein that maintains telomeres. However, cancer cells often have a high rate of spontaneous telomere loss despite the expression of telomerase, which has been proposed to result from a combination of oncogene-mediated replication stress and a deficiency in DSB repair in telomeric regions. Chromosome fusion in mammalian cells primarily involves nonhomologous end joining (NHEJ), which is the major form of DSB repair. Chromosome fusion initiates chromosome instability involving breakage-fusion-bridge (B/F/B) cycles, in which dicentric chromosomes form bridges and break as the cell attempts to divide, repeating the process in subsequent cell cycles. Fusion between sister chromatids results in large inverted repeats on the end of the chromosome, which amplify further following additional B/F/B cycles. B/F/B cycles continue until the chromosome acquires a new telomere, most often by translocation of the end of another chromosome. The instability is not confined to a chromosome that loses its telomere, because the instability is transferred to the chromosome donating a translocation. Moreover, the amplified regions are unstable and form extrachromosomal DNA that can reintegrate at new locations. Knowledge concerning the factors promoting telomere loss and its consequences is

  17. 8-14 translocation in a Japanese Burkitt's lymphoma.

    Directory of Open Access Journals (Sweden)

    Miyamoto,Kanji

    1980-04-01

    Full Text Available Chromosome analysis was performed on cells obtained from the pleural effusion of a Japanese patient with Burkitt's lymphoma. Two modal chromosomal numbers were found: 45 and 46. Five different karyotypes were present, all having a t (8q-;14q+ translocation. This case illustrates that Burkitt's lymphomas of Japanese are no exception to the frequent association of this chromosomal abnormality with Burkitt's lymphomas.

  18. 小麦易位系1BL/1RS×7DL.7Ag的F2分子检测及其农艺和品质性状分析%F2 Molecular Detection and the Agronomic and Quality Traits of Chromosome Translocations 1BL/1RS× 7DL.7Ag in Common Wheat

    Institute of Scientific and Technical Information of China (English)

    李佳彬; 胡阳杰; 王宇娟; 宋全昊; 田芳慧; 李法计; 孙道杰

    2012-01-01

    The 1BL/1RS translocation and 7DL. 7Ag translocation have been widely used by wheat breeders to enhance agronomic performance and disease resistance. In the past decades,the introduction and application of 1BL/1RS translocation significantly increased yield potentials and adaptability in China;now it still plays an important role in wheat breeding and production. Currently,the positive effects of 7DL. 7Ag translocation in terms of increasing the yield have caused attention of wheat breeders over the world. The objective of this study was to analysis the effects of 1BL/1RS and 7DL. 7Ag chromosome translocations on the main agronomic,yield and quality traits in wheat. A total of 900 F2 population and F2:3 family derived from the cross 'Yunong 982'(1BL/1RS translocation)/wheatear(7DL. 7Ag translocation) were planted in Yan-gling of Shaanxi Province during 2009-2011. This study identified the chromosome translocation types of F2 population using SSR and STS. In addition,a total of 15 traits of the two parents,F2 population and F2:3 family, such as plant height, spike length, grain number per spike, thousand-grain weight, grain weight per spike and days from emerge to maturity,were investigated (this study took the agronomic traits of F2 population as a reference, the main agronomic traits of F2:3 family were this study's key point). The F-test and multiple comparisons of the agronomic traits of no-translocation lines,homozygous 1BL/1RS translocation lines,homozygous 7DL. 7Ag translocation lines and Double Translocation Lines (1BL/1RS, 7DL. 7Ag) in F2:3 family were done using the SAS8. 2 System. At the same time, the effects of 1BL/1RS translocation and 7DL. 7Ag translocation on wheat quality were tested. The results showed that;STS Lrl9130 maker and Xgwm428 marker were identified,which could effectively distinguish the heterozygous 7DL. 7Ag translocation from homozygous 7DL. 7Ag translocation when they were used together. In terms of agronomic traits and yield traits

  19. Specific deletion of Cdc42 does not affect meiotic spindle organization/migration and homologous chromosome segregation but disrupts polarity establishment and cytokinesis in mouse oocytes

    DEFF Research Database (Denmark)

    Wang, Zhen-Bo; Jiang, Zong-Zhe; Zhang, Qing-Hua;

    2013-01-01

    female infertility in mice. Cdc42 deletion has little effect on meiotic spindle organization and migration to the cortex but inhibits polar body emission, although homologous chromosome segregation occurs. The failure of cytokinesis is due to the loss of polarized Arp2/3 accumulation and actin cap...... polarized actin cap and oocyte polarity, and it determines asymmetric divisions resulting in two polar bodies. Here we investigate the functions of Cdc42 in oocyte meiotic maturation by oocyte-specific deletion of Cdc42 through Cre-loxP conditional knockout technology. We find that Cdc42 deletion causes...

  20. Nucleolar organization, ribosomal DNA array stability, and acrocentric chromosome integrity are linked to telomere function.

    Directory of Open Access Journals (Sweden)

    Kaitlin M Stimpson

    Full Text Available The short arms of the ten acrocentric human chromosomes share several repetitive DNAs, including ribosomal RNA genes (rDNA. The rDNA arrays correspond to nucleolar organizing regions that coalesce each cell cycle to form the nucleolus. Telomere disruption by expressing a mutant version of telomere binding protein TRF2 (dnTRF2 causes non-random acrocentric fusions, as well as large-scale nucleolar defects. The mechanisms responsible for acrocentric chromosome sensitivity to dysfunctional telomeres are unclear. In this study, we show that TRF2 normally associates with the nucleolus and rDNA. However, when telomeres are crippled by dnTRF2 or RNAi knockdown of TRF2, gross nucleolar and chromosomal changes occur. We used the controllable dnTRF2 system to precisely dissect the timing and progression of nucleolar and chromosomal instability induced by telomere dysfunction, demonstrating that nucleolar changes precede the DNA damage and morphological changes that occur at acrocentric short arms. The rDNA repeat arrays on the short arms decondense, and are coated by RNA polymerase I transcription binding factor UBF, physically linking acrocentrics to one another as they become fusogenic. These results highlight the importance of telomere function in nucleolar stability and structural integrity of acrocentric chromosomes, particularly the rDNA arrays. Telomeric stress is widely accepted to cause DNA damage at chromosome ends, but our findings suggest that it also disrupts chromosome structure beyond the telomere region, specifically within the rDNA arrays located on acrocentric chromosomes. These results have relevance for Robertsonian translocation formation in humans and mechanisms by which acrocentric-acrocentric fusions are promoted by DNA damage and repair.

  1. Fluorescence in situ hybridization detection of chromosome translocations induced by 60Co γ-rays in human lymphocytes dose-response curve and persistence%用荧光原位杂交技术建立60Coγ射线诱发人外周血淋巴细胞染色体易位率剂量效应曲线及易位的持续性研究

    Institute of Scientific and Technical Information of China (English)

    王晓琳; 李进; 王知权

    2001-01-01

    Objective To study dose-response relationship for chromosome translocation and its persistence measured in human lymphocytes exposed to 60Co γ-rays.Methods The chromosome translocations in human peripheral lymphocytes were detected by fluorescence in situ hybridization using 4# and 7# combination of composite whole chromosome-specific DNA probes and Giemsa stain.Results The dose-response relationship for chromosome translocation induced by 60Co γ-rays in vitro could be described by the function:Y=0.0030+0.0134D+0.0165D2.The frequencies of chromosome translocations induced by 0.5 and 2 Gy γ-irradiation did not diminish over time,so it exhibited excellent persistence.Conclusions The results indicate that retrospective dose-reconstruction can be accomplished using chromosome translocation frequency.%目的研究不同剂量60Coγ射线诱发人外周血淋巴细胞染色体易位率和辐射剂量间的剂量效应关系以及观察易位率在同一剂量、不同时相点的变化。方法采用荧光原位杂交技术和连续Giemsa法,用4号和7号全染色体探针分析0、0.25、0.5、0.75、1和2 Gy 60Coγ射线离体照射诱发人外周血淋巴细胞染色体易位率,同时对两个剂量点进行52和72 h培养,比较其易位率。结果易位率和辐射剂量间的量效关系可以用一个二次多项式方程Y=0.0030+0.0134D+0.0165D2来描述;易位率在52和72 h培养时差异无显著性。结论易位率和辐射剂量间存在良好的量效关系,可作为进行早先照射剂量重建的理论依据。

  2. Dominant-lethal mutations and heritable translocations in mice

    International Nuclear Information System (INIS)

    Chromosome aberrations are a major component of radiation or chemically induced genetic damage in mammalian germ cells. The types of aberration produced are dependent upon the mutagen used and the germ-cell stage treated. For example, in male meiotic and postmeiotic germ cells certain alkylating chemicals induce both dominant-lethal mutations and heritable translocations while others induce primarily dominant-lethal mutations. Production of these two endpoints appears to be determined by the stability of alkylation products with the chromosomes. If the reaction products are intact in the male chromosomes at the time of sperm entry, they may be repaired in fertilized eggs. If repair is not effected and the alkylation products persist to the time of pronuclear chromosome replication, they lead to chromatid-type aberrations and eventually to dominant-lethality. The production of heritable translocations, on the other hand, requires a transformation of unstable alkylation products into suitable intermediate lesions. The process by which these lesions are converted into chromosome exchange within the male genome takes place after sperm enters the egg but prior to the time of pronuclear chromosome replication (i.e., chromosome-type). Thus, dominant-lethal mutations result from both chromatid- and chromosome-type aberrations while heritable translocations result primarily from the latter type. DNA target sites associated with the production of these two endpoints are discussed

  3. Dominant-lethal mutations and heritable translocations in mice

    Energy Technology Data Exchange (ETDEWEB)

    Generoso, W.M.

    1983-01-01

    Chromosome aberrations are a major component of radiation or chemically induced genetic damage in mammalian germ cells. The types of aberration produced are dependent upon the mutagen used and the germ-cell stage treated. For example, in male meiotic and postmeiotic germ cells certain alkylating chemicals induce both dominant-lethal mutations and heritable translocations while others induce primarily dominant-lethal mutations. Production of these two endpoints appears to be determined by the stability of alkylation products with the chromosomes. If the reaction products are intact in the male chromosomes at the time of sperm entry, they may be repaired in fertilized eggs. If repair is not effected and the alkylation products persist to the time of pronuclear chromosome replication, they lead to chromatid-type aberrations and eventually to dominant-lethality. The production of heritable translocations, on the other hand, requires a transformation of unstable alkylation products into suitable intermediate lesions. The process by which these lesions are converted into chromosome exchange within the male genome takes place after sperm enters the egg but prior to the time of pronuclear chromosome replication (i.e., chromosome-type). Thus, dominant-lethal mutations result from both chromatid- and chromosome-type aberrations while heritable translocations result primarily from the latter type. DNA target sites associated with the production of these two endpoints are discussed.

  4. Stable type chromosome aberrations in the residents of the high background radiation area in China

    International Nuclear Information System (INIS)

    Chromosome translocations were analyzed by chromosome painting techniques using No.1, 2 and 4 whole chromosome painting probes to examine the effect of high-level natural radiation on the frequencies of chromosome translocations in human peripheral lymphocytes. The subjects were 5 children and 13 old men from the high background radiation area and 6 children and 11 old men from the control area. Children had lesser translocations and smaller variation compared with the old men. The frequency of translocations among the old subjects varied widely from person to person. There is no difference of the frequency of chromosome translocations between high background radiation area and control area. No effect of high-level natural background radiation on the frequencies of stable chromosome translocation was detected

  5. 小麦1BL/1RS和7DL·7Ag易位对小麦主要农艺性状的遗传效应%Genetic Effects of Chromosome Translocations 1BL/1RS and 7DL · 7Ag on the Main Agronomic Traits of Common Wheat

    Institute of Scientific and Technical Information of China (English)

    胡阳杰; 田芳慧; 宋全昊; 李法计; 孙道杰

    2012-01-01

    为了解染色体易位对小麦农艺性状的影响,以豫农982(1BL/1RS易位系)和wheatear(7DL.7Ag易位系)杂交后代的900个F2群体及其F2∶3家系为实验材料,对F2群体进行1BL/1RS易位和7DL.7Ag易位类型的分子检测,并对F2群体及F2∶3家系的主要农艺性状进行田间调查(F2群体的农艺性状仅作参考,重点分析F2∶3家系的农艺性状)。结果表明,(1)STS标记Lr19130与SSR引物Xgwm428联合使用可作为共显性标记鉴定纯合与杂合的7DL.7Ag易位,完善了7DL.7Ag易位的分子检测方法;(2)1BL/1RS易位可显著降低株高,提高穗粒数与小穗数;(3)7DL.7Ag易位在籽粒千粒重和饱满度上有显著的正向作用,但7DL.7Ag易位的穗粒数显著低于非7DL.7Ag易位,且有延迟小麦成熟和增加株高的趋势;(4)1BL/1RS和7DL.7Ag双重易位可同时提升小穗数和千粒重,但穗粒数减少。%The 1BL/1RS translocation and 7DL ·7Ag translocation have been widely used by wheat breeders to enhance agronomic performance and disease resistance. The objective of this study was to analyze the genetic effects of 1BL/1RS and 7DL ·7Ag chromosome translocations on the main agro- nomic traits of wheat. A total of 900 F2 population and F2.3 family derived from the cross Yunong 982 (1BL/1RS translocation) / wheatear (TDL · 7Ag translocation) were planted in Yangling of Shaanxi Province during 2009--2011. The chromosome translocation types of F2 population were identified u- sing SSR and STS. In addition, a total of 15 traits of the two parents, F2 population and F2. a family, such as plant height, spike length, grain number per spike, thousand-grain weight, grain weight per spike and days from emergeto maturity, were investigated (this study took the agronomic traits of F2 population as a reference, the main agronomic traits of F2.3 family were the key point of this study). The F-test and multiple comparisons of the agronomic traits of no-translocation

  6. The constitutional t(11;22): implications for a novel mechanism responsible for gross chromosomal rearrangements

    OpenAIRE

    Kurahashi, H; Inagaki, H; Ohye, T; Kogo, H.; Tsutsumi, M.; Kato, T.; Tong, M.; Emanuel, BS

    2010-01-01

    The constitutional t(11;22)(q23;q11) is the most common recurrent non-Robertsonian translocation in humans. The breakpoint sequences of both chromosomes are characterized by several hundred base pairs of palindromic AT-rich repeats (PATRRs). Similar PATRRs have also been identified at the breakpoints of other nonrecurrent translocations, suggesting that PATRR-mediated chromosomal translocation represents one of the universal pathways for gross chromosomal rearrangement in the human genome. We...

  7. The recurrent chromosomal translocation t(12;18) (q14~15;q12~21) causes the fusion gene HMGA2-SETBP1 and HMGA2 expression in lipoma and osteochondrolipoma

    OpenAIRE

    PANAGOPOULOS, IOANNIS; Gorunova, Ludmila; Bjerkehagen, Bodil; LOBMAIER, INGVILD; Heim, Sverre

    2015-01-01

    Lipomas are the most common soft tissue tumors in adults. They often carry chromosome aberrations involving 12q13~15 leading to rearrangements of the HMGA2 gene in 12q14.3, with breakpoints occurring within or outside of the gene. Here, we present eleven lipomas and one osteochondrolipoma with a novel recurrent chromosome aberration, t(12;18) (q14~15;q12~21). Molecular studies on eight of the tumors showed that full-length HMGA2 transcript was expressed in three and a chimeric HMGA2 transcrip...

  8. A recurrent translocation is mediated by homologous recombination between HERV-H elements

    Directory of Open Access Journals (Sweden)

    Hermetz Karen E

    2012-01-01

    Full Text Available Abstract Background Chromosome rearrangements are caused by many mutational mechanisms; of these, recurrent rearrangements can be particularly informative for teasing apart DNA sequence-specific factors. Some recurrent translocations are mediated by homologous recombination between large blocks of segmental duplications on different chromosomes. Here we describe a recurrent unbalanced translocation casued by recombination between shorter homologous regions on chromosomes 4 and 18 in two unrelated children with intellectual disability. Results Array CGH resolved the breakpoints of the 6.97-Megabase (Mb loss of 18q and the 7.30-Mb gain of 4q. Sequencing across the translocation breakpoints revealed that both translocations occurred between 92%-identical human endogenous retrovirus (HERV elements in the same orientation on chromosomes 4 and 18. In addition, we find sequence variation in the chromosome 4 HERV that makes one allele more like the chromosome 18 HERV. Conclusions Homologous recombination between HERVs on the same chromosome is known to cause chromosome deletions, but this is the first report of interchromosomal HERV-HERV recombination leading to a translocation. It is possible that normal sequence variation in substrates of non-allelic homologous recombination (NAHR affects the alignment of recombining segments and influences the propensity to chromosome rearrangement.

  9. Irradiation-Induced Wheat-Alien Translocation Lines and their Application in Wheat Breeding

    International Nuclear Information System (INIS)

    Wild relatives are rich gene resources for wheat improvement. Transfer of useful alien genes to wheat through development of wheat-alien translocations, especially small alien segment translocations, is important for wheat breeding. Wheat-alien genetic stocks such as amphiploid, addition or substitution lines were irradiated for translocation induction. Mature male or female gametes before flowering on the spikes were irradiated by 60Co-Gamma-rays at doses ranging from 800 to 2240 rad. Chromosome C-banding and genomic in situ hybridization (GISH) was used to identify chromosome translocation. Backcross of M1 plants using normal fresh pollen of common wheat was employed to enhance the transmission rate of various structural changes in their progenies. The results showed that a dose of 800∼1200 rad was suitable for pollen irradiation while 1500∼2000 rad was suitable for female-gamete irradiation. Irradiation treatment just before gamete maturation is advantageous to acquire more M1 hybrids with a high frequency of chromosome structural variation. The frequency of plants with at least one translocation chromosome in M1 could be increased up to 70% through pollen irradiation of Triticum durum-Haynaldia villosa amphiploid. More than 100 translocated chromosomes have been identified in the BC1 and BC2. Translocations with small alien chromosome segments, 57 terminal and 80 intercalary, were induced through female gamete irradiation conducted on T.aestivum-H.villosa 6VS/6AL translocation line. For the 2240 Rad dosage treatment, the induction frequencies of interstitial translocation, terminal translocation and deletion were 21.02%, 14.01%, and 14.65%, respectively, which were much higher than those previously reported. The T.aestivum-H.villosa 6VS/6AL translocation has been used in wheat breeding and many elite cultivars, such as Nannong 9918, Neimai 9, Shimai 14, etc. have been developed and released. (author)

  10. Mapping of human chromosomal regions related to neoplasia: evidence from chromosomes 1 and 17

    Energy Technology Data Exchange (ETDEWEB)

    Rowley, J.D.

    1977-12-01

    In clonal aberrations leading to an excess or partial excess of chromosome I, trisomy for bands 1q25-1q32 was noted in the myeloid cells from all of 34 patients who had various disorders such as acute leukemia, polycythemia vera, and myelofibrosis. This was not the result of a particularly fragile site in that region of the chromosome because the break points in reciprocal translocations that involve it occurred almost exclusively in the short arm. Two consistent rearrangements that have been observed in chromosome 17 produced either duplication of the entire long arm or a translocation of the distal portion of the long arm to chromosome 15. The nonrandom chromosomal changes found in hematologic disorders can now be correlated with the gene loci on these chromosomes or chromosomal segments. Seventy-five genes related to various metabolic enzymes have been mapped; it may be significant that chromosomes carrying gene loci related to nucleic acid metabolism are more frequently involved in hematologic disorders (and other malignancies as well) than are gene loci related to intermediary or carbohydrate metabolism. Furthermore, the known virus-human chromosome associations are closely correlated with the chromosomes affected in hematologic disorders. If one of the effects of carcinogens (including viruses) is to activate genes that regulate host cell DNA synthesis, and if translocations or duplications of specific chromosomal segments produce the same effect, then either of these mechanisms might provide the affected cell with a proliferative advantage.

  11. Small molecule tolfenamic acid and dietary spice curcumin treatment enhances antiproliferative effect in pancreatic cancer cells via suppressing Sp1, disrupting NF-kB translocation to nucleus and cell cycle phase distribution.

    Science.gov (United States)

    Basha, Riyaz; Connelly, Sarah F; Sankpal, Umesh T; Nagaraju, Ganji Purnachandra; Patel, Hassaan; Vishwanatha, Jamboor K; Shelake, Sagar; Tabor-Simecka, Leslie; Shoji, Mamoru; Simecka, Jerry W; El-Rayes, Bassel

    2016-05-01

    Combination of dietary/herbal spice curcumin (Cur) and COX inhibitors has been tested for improving therapeutic efficacy in pancreatic cancer (PC). The objective of this study was to identify agent with low toxicity and COX-independent mechanism to induce PC cell growth inhibition when used along with Cur. Anticancer NSAID, tolfenamic acid (TA) and Cur combination were evaluated using PC cell lines. L3.6pl and MIA PaCa-2 cells were treated with Cur (5-25μM) or TA (25-100μM) or combination of Cur (7.5μM) and TA (50μM). Cell viability was measured at 24-72h posttreatment using CellTiter-Glo kit. While both agents showed a steady/consistent effect, Cur+TA caused higher growth inhibition. Antiproliferative effect was compared with COX inhibitors, Ibuprofen and Celebrex. Cardiotoxicity was assessed using cordiomyocytes (H9C2). The expression of Sp proteins, survivin and apoptotic markers (western blot), caspase 3/7 (caspase-Glo kit), Annexin-V staining (flow cytometry), reactive oxygen species (ROS) and cell cycle phase distribution (flow cytometry) was measured. Cells were treated with TNF-α, and NF-kB translocation from cytoplasm to nucleus was evaluated (immunofluorescence). When compared to individual agents, combination of Cur+TA caused significant increase in apoptotic markers, ROS levels and inhibited NF-kB translocation to nucleus. TA caused cell cycle arrest in G0/G1, and the combination treatment showed mostly DNA synthesis phase arrest. These results suggest that combination of Cur+TA is less toxic and effectively enhance the therapeutic efficacy in PC cells via COX-independent mechanisms. PMID:27133426

  12. Reciprocal translocations in Saccharomyces cerevisiae formed by nonhomologous end joining.

    Science.gov (United States)

    Yu, Xin; Gabriel, Abram

    2004-02-01

    Reciprocal translocations are common in cancer cells, but their creation is poorly understood. We have developed an assay system in Saccharomyces cerevisiae to study reciprocal translocation formation in the absence of homology. We induce two specific double-strand breaks (DSBs) simultaneously on separate chromosomes with HO endonuclease and analyze the subsequent chromosomal rearrangements among surviving cells. Under these conditions, reciprocal translocations via nonhomologous end joining (NHEJ) occur at frequencies of approximately 2-7 x 10(-5)/cell exposed to the DSBs. Yku80p is a component of the cell's NHEJ machinery. In its absence, reciprocal translocations still occur, but the junctions are associated with deletions and extended overlapping sequences. After induction of a single DSB, translocations and inversions are recovered in wild-type and rad52 strains. In these rearrangements, a nonrandom assortment of sites have fused to the DSB, and their junctions show typical signs of NHEJ. The sites tend to be between open reading frames or within Ty1 LTRs. In some cases the translocation partner is formed by a break at a cryptic HO recognition site. Our results demonstrate that NHEJ-mediated reciprocal translocations can form in S. cerevisiae as a consequence of DSB repair. PMID:15020464

  13. A molecular deletion of distal chromosome 4p in two families with a satellited chromosome 4 lacking the Wolf-Hirschhorn syndrome phenotype.

    OpenAIRE

    Estabrooks, L L; Lamb, A.N.; Kirkman, H N; Callanan, N P; Rao, K W

    1992-01-01

    We report two families with a satellited chromosome 4 short arm (4ps). Satellites and stalks normally occur on the short arms of acrocentric chromosomes; however, the literature cites several reports of satellited nonacrocentric chromosomes, which presumably result from a translocation with an acrocentric chromosome. This is the first report of 4ps chromosomes. Our families are remarkable in that both unaffected and affected individuals carry the 4ps chromosome. The phenotypes observed in aff...

  14. A Common Breakpoint on 11q23 in Carriers of the Constitutional t(11;22) Translocation

    OpenAIRE

    Edelmann, L.; Spiteri, E.; McCain, N.; Goldberg, R.; Pandita, R. K.; Duong, S; Fox, J; Blumenthal, D; Lalani, S. R.; Shaffer, L. G.; Morrow, B E

    1999-01-01

    Structural chromosomal rearrangements occur commonly in the general population. Individuals that carry a balanced translocation are at risk of having unbalanced offspring; therefore, the frequency of translocations in couples with recurrent spontaneous abortions is higher than that in the general population. The constitutional t(11;22) translocation is the most common recurrent non-Robertsonian translocation in humans and may serve as a model to determine the mechanism...

  15. Differential staining of interspecific chromosomes in somatic cell hybrids by alkaline Giemsa stain.

    Science.gov (United States)

    Friend, K K; Chen, S; Ruddle, F H

    1976-03-01

    Staining of chromosome preparations of Chinese hamster-human hybrid cells and mouse-chimpanzee hybrids with alkaline Giemsa has yielded color differentiation of the interspecific chromosomes. Bicolor chromosomes, indicating apparent translocations also are observed for each of these hybrids. The specific color differences observed provide a rapid means of recognizing and aiding in the identification of the interspecific chromosomes and apparent translocations in these somatic cell hybrids. PMID:1028166

  16. Identification of AML-1 and the (8;21) translocation protein (AML-1/ETO) as sequence-specific DNA-binding proteins: the runt homology domain is required for DNA binding and protein-protein interactions.

    OpenAIRE

    Meyers, S; Downing, J R; Hiebert, S W

    1993-01-01

    The AML1 gene on chromosome 21 is disrupted in the (8;21)(q22;q22) translocation associated with acute myelogenous leukemia and encodes a protein with a central 118-amino-acid domain with 69% homology to the Drosophila pair-rule gene, runt. We demonstrate that AML-1 is a DNA-binding protein which specifically interacts with a sequence belonging to the group of enhancer core motifs, TGT/cGGT. Electrophoretic mobility shift analysis of cell extracts identified two AML-1-containing protein-DNA c...

  17. Retrospective dosimetry using chromosome painting

    International Nuclear Information System (INIS)

    Chromosome aberration frequency measured in peripheral lymphocytes of persons exposed to ionizing radiation has been used since 1960s for dose assessment. Suspected overexposure is usually evaluated by the frequency of dicentrics and centric rings using an appropriate in vitro calibration curve. However, these chromosome aberrations are unstable with time after exposure and dose reconstruction may encounter uncertainties when the time between the exposure and the analysis is considerable or even unknown. It appears that translocations persist with time after exposure and may be used as an indication of acute past overexposures. Moreover, they appear to accumulate the cytogenetical information, which correlates with the dose received under fractionated, chronic or even occupational exposure conditions. Translocations may be detected using G-banding, which allows to score the total amount of radiation induced translocations but it is a time consuming method, or by Chromosome Painting, a method base on the Fluorescence in situ Hybridization (FISH) technique, painting only some chromosome pairs with specific whole chromosome probes and then extrapolating the observed translocation frequencies to the full genome. The latter method allows a faster aberration scoring than G-banding and appears to be the most promissory tool for biodosimetry, particularly when it is necessary to assess low doses and consequently to score a large number of metaphases, e.g. radiation workers exposed within dose limits. As with the unstable chromosome aberration, it is necessary an in vitro calibration curve based on the frequency of stable chromosome aberrations to assess doses. Our laboratory performed calibration curves for Co60 γ-rays based on the frequencies of unstable (dicentrics and centric rings detected by conventional Giemsa staining) and stable chromosome aberrations (translocations and inversions, detected by G-banding). In order to minimize the interlaboratory variability, we

  18. Features of Turner's and DiGeorge's syndromes in a child with an X;22 translocation.

    OpenAIRE

    Pinto, M. R.; Leite, R P; Areias, A.

    1989-01-01

    We describe the clinical and cytogenetic findings in an infant who presented with the features of both Turner's and DiGeorge's syndromes associated with a unique translocation between chromosomes X and 22.

  19. CHROMOSOMAL ABNORMALITIES IN PATIENTS WITH SPERM DISORDERS

    OpenAIRE

    L. Y. Pylyp; L. A. Spinenko; V. D. Zukin; N. M. Bilko

    2013-01-01

    Chromosomal abnormalities are among the most common genetic causes of spermatogenic disruptions. Carriers of chromosomal abnormalities are at increased risk of infertility, miscarriage or birth of a child with unbalanced karyotype due to the production of unbalanced gametes. The natural selection against chromosomally abnormal sperm usually prevents fertilization with sperm barring in cases of serious chromosomal abnormalities. However, assisted reproductive technologies in general and intrac...

  20. Identification of Wheat-Agropyron cristatum 6P Chromosome Intercalary Translocation Lines%普通小麦-冰草6P染色体中间插入易位系的鉴定

    Institute of Scientific and Technical Information of China (English)

    黄琛; 张锦鹏; 刘伟华; 杨欣明; 李秀全; 鲁玉清; 李立会; 高爱农

    2013-01-01

    Distant hybridization is a practical way to introduce the chromatins carrying agronomically desirable genes of the wheat related species into the common wheat in order to enhance the diversity of the wheat genetic pool.The aim of this study was to identify the homozygous small segmental translocation lines with excellent agronomic performances among the progenies of the hybridization between wheat and alien species by using genomic in situ hybridization(GISH).In this study,the translocation progenies of the hybridization between the wheat-Agropyrum cristatum disomic substitution line 4844-8 and common wheat,and the disomic addition line 4844-12 and common wheat,were studied.Two intercalary translocation lines with a pair of small homozygous A.cristatum chromatin segments were identified with GISH respectively.The intercalary translocation line 104-3,with high thousand grain weight(TGW) was resistant to powdery mildew.The intercalary translocation line 19-2 was excellent for its high grain number per spike (GNPS) and high TGW.The excellent agronomic performances of these two lines indicated that they were elite genetic resources,and could be used to broaden the wheat genetic basis in the future.%远缘杂交技术是将小麦野生近缘植物的染色体片段导入小麦的有效途径.通过这种方法可以拓宽小麦的遗传基础,导入控制优异性状的基因,从而达到改良小麦的目的.为了获得在小麦遗传育种中具有较高研究利用价值的纯合小麦-冰草小片段异源染色体易位系,利用细胞学手段对普通小麦-冰草的远缘杂交后代进行鉴定.本研究以小麦-冰草二体代换系4844-8、二体附加系4844-12与普通小麦杂交后辐照产生的易位系为材料,利用基因组原位杂交(GISH)技术从中鉴定出2个具有冰草染色体小片段的纯合中间插入易位系,其中易位系104-3高抗小麦白粉病、高千粒重;易位系19-2具有较高的穗粒数和较

  1. Cerebellar and brainstem hypoplasia in a child with a partial monosomy for the short arm of chromosome 5 and partial trisomy for the short arm of chromosome 10

    NARCIS (Netherlands)

    Arts, W F M; Hofstee, Y; Drejer, G F; Beverstock, G C; Oosterwijk, J C

    1995-01-01

    A child with hypoplasia of the cerebellum and brainstem in association with an unbalanced translocation, resulting in a partial deletion of the short arm of chromosome 5 and a partial trisomy of the short arm of chromosome 10, is described. A balanced translocation was present in his mother and mate

  2. Clinical and molecular cytogenetic analyses of four patients with imbalanced translocations

    OpenAIRE

    Liu, Hong Yan; Huang, Jia; Li, Tao; Wu, Dong; Wang, Hong Dan; Wang, Yue; WANG, Tao; Guo, Liang Jie; Guo, Qian Nan; Huang, Fei Fei; Wang, Rui Li; Wang, Ying Tai

    2016-01-01

    Background Chromosomal abnormalities that result in genomic imbalances are main causes of congenital and developmental anomalies including intellectual disability and multiple congenital malformations. In this report we describe four patients from three families with imbalanced translocations. Only a small percentage of imbalanced translocation individuals can be born to live, most of them were aborted in embryonic period. It is of great significances to precisely analysis the chromosome vari...

  3. Translocation junctions in TCF3-PBX1 acute lymphoblastic leukemia/lymphoma cluster near transposable elements

    OpenAIRE

    Rodić, Nemanja; Zampella, John G; Toby C Cornish; Sarah J Wheelan; Burns, Kathleen H.

    2013-01-01

    Background Hematolymphoid neoplasms frequently harbor recurrent genetic abnormalities. Some of the most well recognized lesions are chromosomal translocations, and many of these are known to play pivotal roles in pathogenesis. In lymphoid malignancies, some translocations result from erroneous V(D)J-type events. However, other translocation junctions appear randomly positioned and their underlying mechanisms are not understood. Results We tested the hypothesis that genomic repeats, including ...

  4. Meiotic behaviour and spermatogenesis in male mice heterozygous for translocation types also occurring in man

    International Nuclear Information System (INIS)

    In this thesis a start was made with meiotic observations of mouse translocation types - a Robertsonian translocation and a translocation between a metacentric and an acrocentric chromosome - which also occur in man. As an exogeneous factor of possible influence, the meiotic effects of two types of radiation (fission neutrons and X-rays) administered at relatively low doses 2 and 3 hours before prometaphase-metaphase II (probably during metaphase-anaphase I), were determined in Rb4Bnr/+-males. (Auth.)

  5. Molecular characterization of translocation (6;9) in acute nonlymphocytic leukemia

    NARCIS (Netherlands)

    M.M. von Lindern (Marieke)

    1992-01-01

    textabstractSpecific chromosomal translocations are one of the defects associated with leukemia. Isolation and characterization of genes affected by these translocations may give insight into the processes of both leukemogenesis and normal hematopoiesis. When the experiments described in this thesis

  6. Balanced translocation (14;20) in a mentally handicapped child with cystinuria.

    OpenAIRE

    Sharland, M.; Jones, M.; Bain, M.; Chalmers, R; Hammond, J; Patton, M A

    1992-01-01

    A mentally handicapped 3 year old child with cystinuria is presented. Routine chromosomal analysis showed an apparently balanced de novo translocation in the child with breakpoints 14q22 and 20p13. Family studies suggested that the child is a type I/type II compound heterozygote for cystinuria. This translocation may indicate a possible locus for the gene for cystinuria.

  7. 染色体平衡易位46,XY,t(4;7)(q21;p15)致生长激素缺乏症的临床综合分析%Aggregate clinical analysis of growth hormone deficiency caused by balanced chromosomal translocation of 46, XY, t (4; 7) (q21; p15)

    Institute of Scientific and Technical Information of China (English)

    田莉; 李黎; 杜艳; 陈萍; 沈长新; 张建武

    2012-01-01

    目的 探讨平衡易位携带者对子代的影响.方法 患者及家系成员外周血淋巴细胞常规培养制备染色体,进行核型分析.对患者进行复合刺激试验,采用化学发光法检测生长激素(GH)、促卵泡生成素( FSH)和促黄体生成激素(LH)水平,同时检测其他代谢相关生化指标及相关影象检查.结果 患者核型为46,XY,t(4; 7) (q21; p15),患者母亲核型为46,XX,t(4;7) (q21; p15),其他成员核型正常.患者复合刺激试验示GH分泌反应低下,FSH、LH反应 正常,血清胰岛素样生长因子-Ⅰ (IGF-1)、胰岛素样生长因子结合蛋白-3(IGFBP -3)、促肾上腺皮质激素(ACTH)、硫酸去氢表雄酮( DHEA -S)、总睾酮(T)低于参考范围的下限.骨龄11岁,垂体MRI排除脑组织异常.结论 患者的异常表型是由于生长激素缺乏所致,常染色体平衡易位可致子代生长激素缺乏症.%Objective: To investigate the influence of Balanced Chromosomal Translocation Carriers to the filial generation. Methods: The Chromosome was extracted from the peripheral blood lymphocyte of the patient and the family members, karyotype analysis were performed. Compound stimulation experiment was performed on the patient, the expression level of GH, FSH, and LF were detected using chemiluminescence, the expression of some other metabolism related biochemical indicators and image analysis were also performed. Results-. The karyotype of the patient and his mother is 46, XY, t (4;7) (q21;p15) and46, XX, t (4; 7) (q21; pl5) respectively, whereas the karyotypes are normal in the other family members. Compound stimulation experiment showed that in the patient, GH secretion respond is lower, whereas the level of FSH, LH are normal. IGF - 1, IGFBP - 3, ACTH, andrusol, DHEA - S and testosterone are lower than the low limit of reference scope. Bone age is eleven. Brain abnomal was excluded by hypophysis MRI. Conclusion: the abnormal phenotype was due to growth hormone deficiency. We

  8. Problem-elephant translocation: Translocating the problem and the elephant?

    OpenAIRE

    Fernando, Prithiviraj; Leimgruber, Peter; Prasad, Tharaka; Pastorini, Jennifer

    2012-01-01

    Human-elephant conflict (HEC) threatens the survival of endangered Asian elephants (Elephas maximus). Translocating "problem-elephants" is an important HEC mitigation and elephant conservation strategy across elephant range, with hundreds translocated annually. In the first comprehensive assessment of elephant translocation, we monitored 16 translocations in Sri Lanka with GPS collars. All translocated elephants were released into national parks. Two were killed within the parks where they we...

  9. Problem-Elephant Translocation: Translocating the Problem and the Elephant?

    OpenAIRE

    Fernando, Prithiviraj; Leimgruber, Peter; Prasad, Tharaka; Pastorini, Jennifer

    2012-01-01

    Human-elephant conflict (HEC) threatens the survival of endangered Asian elephants (Elephas maximus). Translocating “problem-elephants” is an important HEC mitigation and elephant conservation strategy across elephant range, with hundreds translocated annually. In the first comprehensive assessment of elephant translocation, we monitored 16 translocations in Sri Lanka with GPS collars. All translocated elephants were released into national parks. Two were killed within the parks where they we...

  10. Identification of DNA double strand breaks at chromosome boundaries along the track of particle irradiation.

    Science.gov (United States)

    Niimi, Atsuko; Yamauchi, Motohiro; Limsirichaikul, Siripan; Sekine, Ryota; Oike, Takahiro; Sato, Hiro; Suzuki, Keiji; Held, Kathryn D; Nakano, Takashi; Shibata, Atsushi

    2016-08-01

    Chromosomal translocations arise from misrejoining of DNA double strand breaks (DSBs) between loci located on two chromosomes. One current model suggests that spatial proximity of potential chromosomal translocation partners influences translocation probability. Ionizing radiation (IR) is a potent inducer of translocations. Accumulating evidence demonstrates that particle irradiation more frequently causes translocations compared with X-ray irradiation. This observation has led to the hypothesis that the high frequency of translocations after particle irradiation may be due to the formation of DSBs at chromosome boundaries along the particle track, because such DSBs can be misrejoined between distinct chromosomes. In this study, we simultaneously visualized the site of IR-induced DSBs and chromosome position by combining Immunofluorescence and fluorescence in situ hybridization. Importantly, the frequency of γH2AX foci at the chromosome boundary of chromosome 1 after carbon-ion irradiation was >4-fold higher than that after X-ray irradiation. This observation is consistent with the idea that particle irradiation generates DSBs at the boundaries of two chromosomes along the track. Further, we showed that resolution of γH2AX foci at chromosome boundaries is prevented by inhibition of DNA-PKcs activity, indicating that the DSB repair is NHEJ-dependent. Finally, we found that γH2AX foci at chromosome boundaries after carbon-ion irradiation contain DSBs undergoing DNA-end resection, which promotes repair utilizing microhomology mediated end-joining during translocation. Taken together, our study suggests that the frequency of DSB formation at chromosome boundaries is associated with the incidence of chromosomal translocations, supporting the notion that the spatial proximity between breaks is an important factor in translocation formation. © 2016 Wiley Periodicals, Inc. PMID:27113385

  11. The role of the Philadelphia translocation in chronic myeloid leukemia

    NARCIS (Netherlands)

    A.H.M. Geurts van Kessel (Ad)

    1983-01-01

    textabstractDuring the last two decades evidence for a close association between the presence of specific chromosomal abnormalities and the occurrence of several types of cancers and leukemias has accumulated. The Philadelphia (Ph 1) translocation, present in about 90% of the patients with chronic m

  12. Genetic counseling in carriers of reciprocal translocations involving two autosomes

    Directory of Open Access Journals (Sweden)

    Bahareh Pourjafari

    2012-01-01

    Couples in which one partner is the carrier of such balanced translocation have increased risks of infertility, recurrent abortion, and delivery of chromosomally abnormal offspring. Genetic counseling of such couples, therefore, presents a unique challenge and should be considered in dealing with such families.

  13. Balanced Chromosomal Rearrangement in Recurrent Spontaneous Abortions: A Case Report

    OpenAIRE

    Zarifian, Ahmadreza; Farhoodi, Zeinab; Amel, Roya; Mirzaee, Salmeh; Hassanzadeh-Nazarabadi, Mohammad

    2012-01-01

    One of the major causes of spontaneous abortion before the fourth month of pregnancy is chromosomal abnormalities. We report an unusual case of a familial balanced chromosomal translocation in a consanguineous couple who experienced 4 spontaneous abortions. Chromosomal studies were performed on the basis of G-banding technique at high resolution and revealed 46, XX, t (16; 6) (p12; q26) and 46, XY, t (16; 6) (p12; q26) in both partners, which induced such pregnancy complications. Chromosomal ...

  14. Dynamics of forced biopolymer translocation

    CERN Document Server

    Lehtola, V V; Kaski, K; 10.1209/0295-5075/85/58006

    2009-01-01

    We present results from our simulations of biopolymer translocation in a solvent which explain the main experimental findings. The forced translocation can be described by simple force balance arguments for the relevant range of pore potentials in experiments and biological systems. Scaling of translocation time with polymer length varies with pore force and friction. Hydrodynamics affects this scaling and significantly reduces translocation times.

  15. Characterization of a t(5;8)(q31;q21) translocation in a patient with mental retardation and congenital heart disease: implications for involvement of RUNX1T1 in human brain and heart development

    DEFF Research Database (Denmark)

    Zhang, Litu; Tümer, Zeynep; Møllgård, Kjeld;

    2009-01-01

    The chromosome break points of the t(8;21)(q21.3;q22.12) translocation associated with acute myeloid leukemia disrupt the RUNX1 gene (also known as AML1) and the RUNX1T1 gene (also known as CBFA2T3, MTG8 and ETO) and generate a RUNX1-RUNX1T1 fusion protein. Molecular characterization of the...... translocation break points in a t(5;8)(q32;q21.3) patient with mild-to-moderate mental retardation and congenital heart disease revealed that one of the break points was within the RUNX1T1 gene. Analysis of RUNX1T1 expression in human embryonic and fetal tissues suggests a role of RUNX1T1 in brain and heart...

  16. Clinicopathology and Immunohistochemistry Comparative Study between Chromosomal Translocation-Associated and Nontranslocation-Associated Soft Tissue Sarcomas%染色体易位相关与非相关软组织肉瘤临床病理与免疫组化的研究

    Institute of Scientific and Technical Information of China (English)

    刘春霞; 李锋; 陈云昭; 李新霞; 胡文浩; 常彬; 庞丽娟; 齐妍; 李洪安; 蒋金芳

    2010-01-01

    对染色体易位相关软组织肉瘤(chromosomal translocation-associated sarcomas,CTASs)与染色体易位非相关软组织肉瘤(chromosomal translocation-nonassociated sarcomas,CTNASs)在临床病理组织学和免疫组织化学方面的不同特点进行初步观察和比较.回顾性分析108例CTASs与CTNASs的临床病理组织与细胞形态学特点,同时采用免疫组织化学Envision法检测EGFR、HER-2、CD117、P53、MDM2蛋白的表达和分布.结果显示,本组108例软组织肉瘤中,CTASs患者发病年龄(平均约29.2岁)较CTNASs患者发病年龄(平均约44.7岁)小.形态学上,CTASs多以小圆形细胞为主型(53.8%)和梭形细胞为主型(46.2%)居多,而CTNASs则以多型性细胞为主(51.2%).免疫组织化学染色显示,CTASs与CTNASs中P53、MDM2、HER-2、CD117、EGFR蛋白的阳性表达率分别为75.4%和72.1%、16.9%和41.9%、12.3%和9.3%、4.6%和0、23.1%和11.6%.经卡方检验,MDM2在CTASs与CTNASs中的表达差异有显著性,提示MDM2可能在CTNASs发病机制中扮演重要的角色.

  17. Genetic locus on chromosome 6p for multicystic renal dysplasia, pelvi-ureteral junction stenosis, and vesicoureteral reflux

    Energy Technology Data Exchange (ETDEWEB)

    Devriendt, K.; Fryns, J.P. [University Hospital Leuven (Belgium)

    1995-11-20

    Robson et al. suggest that renal agenesis, multicystic renal dysplasia (MRD), and uretero-pelvic junction (PUJ) stenosis are pathogenetically related. They proposed a vascular disruption as the cause, with the variable severity of the disorder related to the timing of the abnormal blood supply to the ureteric bud. Alternatively, there exists convincing evidence of a genetic cause transmitted as an autosomal dominant disorder with variable expression, and with a candidate gene localized on chromosome arm 6p. Combinations of these urological malformations occur in the same individual or in different relatives in the same family. In several families with PUJ-stenosis, linkage with the HLA-locus on 6p has been demonstrated. Furthermore, we recently described a patient with a de novo reciprocal translocation involving the same region on 6p in a patient with bilateral multicystic renal dysplasia. Most disease-associated reciprocal translocations appear to have a breakpoint within a candidate gene: therefore, it is reasonable to hypothesize that the breakpoint on 6p in this patient resides within a gene causing MRD. This suggests that mutations in the same gene may lead either to PUJ-stenosis or, when the stenosis is complete, to MRD. A translocation is expected to result in a complete disruption of the gene, and this could explain the severe clinical expression of bilateral MRD. Less severe mutations in the same gene, associated with a partially conserved gene function, could lead to PUJ-stenosis. 11 refs.

  18. Chromosomal rearrangement interferes with meiotic X chromosome inactivation

    Czech Academy of Sciences Publication Activity Database

    Homolka, David; Ivánek, Robert; Čapková, Jana; Jansa, Petr; Forejt, Jiří

    2007-01-01

    Roč. 17, č. 10 (2007), s. 1431-1437. ISSN 1088-9051 R&D Projects: GA MŠk(CZ) 1M0520; GA ČR GA301/06/1334; GA ČR GA301/07/1383 Grant ostatní: Howard Hughes Medical Institute(US) HHMI 55000306 Institutional research plan: CEZ:AV0Z50520514 Keywords : chromosomal translocations * meiotic X chromosome inactivation * spermatogenesis Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 11.224, year: 2007

  19. Trisomy greatly enhances interstitial crossing over in a translocation heterozygote of Secale

    NARCIS (Netherlands)

    Sybenga, J.; Verhaar, H.M.; Botje, D.G.A.

    2012-01-01

    Chromosomal rearrangements, including reciprocal translocations, may prevent recombinational transfer of genes from a donor genotype to a recipient, especially when the gene is located in an interstitial segment. The effect of trisomy of chromosome arm 1RS on recombination was studied in translocati

  20. Analysis of the Ceratitis capitata y chromosome using in situ hybridization to mitotic chromosomes

    International Nuclear Information System (INIS)

    In Ceratitis capitata the Y chromosome is responsible for sex-determination. We used fluorescence in situ hybridization (FISH) for cytogenetic analysis of mitotic chromosomes. FISH with the wild-type strain EgyptII and two repetitive DNA probes enabled us to differentiate between the short and the long arm of the Y chromosome and gives a much better resolution than C-banding of mitotic chromosomes. We identified the Y-chromosomal breakpoints in Y-autosome translocations using FISH. Even more complex rearrangements i.e. deletions and insertions in some translocation strains were detected by this method. A strategy for mapping the primary sex determination factor in Ceratitis capitata by FISH is presented. (author)

  1. Chromosomal geometry in the interface from the frequency of the radiation induced chromosome aberrations

    International Nuclear Information System (INIS)

    Ionizing radiation induces DNA double-strand breaks (DSBs) and their interaction and illegitimate recombination produces chromosomal aberrations. Stable chromosomal aberrations comprise inter-chromosomal events (translocations) and intra-chromosomal events (inversions). When DSBs induction and interaction is done at random, and the proximity effects are neglected, the expected relation between translocations and inversions is F=86, based on chromosome arm length. The number of translocations and inversions is analyzed by using G-banding in 16 lymphocytes cultures from blood samples acutely irradiated with γ-rays (dose range: 0,5 Gy - 3 Gy). The result obtained was: F=13,5, significantly smaller than F=86. Literature data show similar small F values, but strongly spread. The excess of inversions could be explained by a 'proximity effect', it means that more proximate DSBs have more interaction probability. Therefore, it is possible to postulate a special chromosome arrangement during irradiation and the subsequent interval. We propose a model where individual chromosomes show spherical confinement with some degree of overlapping and DSBs induction proportional to cross section. A DSBs interaction probability function with cut-off length= 1μ is assumed. According to our results, the confinement volume is ≅ 6.4% of the nuclear volume. Nevertheless, we presume that large spread in F data could be due to temporal variation in overlapping and spatial chromosomal confinement. (authors). 14 refs

  2. Chromosome painting in biological dosimetry: Semi-automatic system to score stable chromosome aberrations

    International Nuclear Information System (INIS)

    From the beginning of the description of the procedure of chromosome painting by fluorescence in situ hybridization (FISH), it was thought its possible application to score induced chromosomal aberrations in radiation exposition. With chromosome painting it is possible to detect changes between chromosomes that has been validated in radiation exposition. Translocation scoring by FISH, contrarily to the unstable dicentrics, mainly detect stable chromosome aberrations that do not disappear, it allows the capability of quantify delayed acute expositions or chronic cumulative expositions. The large number of cells that have to be analyzed for high accuracy, specially when dealing with low radiation doses, makes it almost imperative to use an automatic analysis system. After validate translocation scoring by FISH in our, we have evaluated the ability and sensitivity to detect chromosomal aberrations by chromosome using different paint probes used, showing that any combination of paint probes can be used to score induced chromosomal aberrations. Our group has developed a FISH analysis that is currently being adapted for translocation scoring analysis. It includes systematic error correction and internal control probes. The performance tests carried out show that 9,000 cells can be analyzed in 10 hr. using a Sparc 4/370. Although with a faster computer, a higher throughput is expected, for large population screening or very low radiation doses, this performance still has to be improved. (author)

  3. Acute myeloid leukemia with the 8q22;21q22 translocation: secondary mutational events and alternative t(8;21) transcripts

    OpenAIRE

    Peterson, Luke F.; Boyapati, Anita; Ahn, Eun-Young; Biggs, Joseph R.; Okumura, Akiko Joo; Lo, Miao-Chia; Yan, Ming; Zhang, Dong-Er

    2007-01-01

    Nonrandom and somatically acquired chromosomal translocations can be identified in nearly 50% of human acute myeloid leukemias. One common chromosomal translocation in this disease is the 8q22;21q22 translocation. It involves the AML1 (RUNX1) gene on chromosome 21 and the ETO (MTG8, RUNX1T1) gene on chromosome 8 generating the AML1-ETO fusion proteins. In this review, we survey recent advances made involving secondary mutational events and alternative t(8;21) transcripts in relation to unders...

  4. Sequence-specific assembly of FtsK hexamers establishes directional translocation on DNA

    OpenAIRE

    Graham, James E.; Sherratt, David J.; Szczelkun, Mark D.

    2010-01-01

    FtsK is a homohexameric, RecA-like dsDNA translocase that plays a key role in bacterial chromosome segregation. The FtsK regulatory γ-subdomain determines directionality of translocation through its interaction with specific 8 base pair chromosomal sequences [(KOPS); FtsK Orienting / Polarizing Sequence(s)] that are cooriented with the direction of replication in the chromosome. We use millisecond-resolution ensemble translocation and ATPase assays to analyze the assembly, initiation, and tra...

  5. Family Disruptions

    Science.gov (United States)

    ... Spread the Word Shop AAP Find a Pediatrician Family Life Medical Home Family Dynamics Adoption & Foster Care ... Life Listen Español Text Size Email Print Share Family Disruptions Page Content Article Body No matter how ...

  6. Genetic effects of wheat-Haynaldia villosa chromosome T6VS.6AL translo-cation based on advanced sib-line groups%基于高代姊妹系组群研究小麦-簇毛麦染色体 T6 VS .6 AL易位的遗传效应

    Institute of Scientific and Technical Information of China (English)

    别同德; 高德荣; 张晓; 庄丽芳; 赵仁慧; 陈甜甜; 张伯桥

    2015-01-01

    In order to elucidate the genetic effects of wheat⁃Haynaldia villosa chromosome T6VS.6AL translocation for its application in wheat breeding, advanced sib⁃lines derived from the primitive seeds of Yangmai18 for variety regional test, were grouped according to powdery mildew resistance. Comparison between the resistant and susceptible groups was performed on major agronomic and quality traits. The results showed that T6VS.6AL has significantly positive effects on kernel weight, plant height, and spike length at the 0�01 level. It has significantly positive effect on spikelet number per spike and negative effect on spikelet density, at the 0.05 and 0.01 levels, respectively. It has no significant effect on kernel number per plant, kernel number per spike, tiller number per plant, and yield. Furthermore, T6VS.6AL has no effect on wheat quality general⁃ly. Based on the above results, it is concluded that sib line groups are valuable materials for precisely evaluating genetic effects of a certain chromosomal segment. Dwanf or medium⁃height stem, high⁃yielding and widely adaptable wheat varieties carrying translocated chromosome T6VS. 6AL are suggested to be used as the last recurrent parent during roll⁃ing convergent backcross.%为了解小麦⁃簇毛麦抗白粉病易位染色体T6VS.6AL的遗传效应以更好地将其用于小麦品种选育,对扬麦18原始区域试验种子衍生的抗白粉病姊妹系、感白粉病姊妹系组群进行主要农艺和品质性状的比较。结果表明:T6VS.6AL易位对小麦的千粒质量、株高和穗长有极显著正向效应,对每穗小穗数呈显著正向效应,对小穗密度呈极显著负向效应,对单株总粒数、每穗粒数、单株穗数、株系产量没有显著影响;T6VS.6AL易位总体上对小麦品质没有影响。综上所述,高代姊妹系组群是准确评价特定染色体区段遗传效应的宝贵材料,在利用T6VS.6AL易位系进行滚

  7. Can Characteristics of Reciprocal Translocations Predict the Chance of Transferable Embryos in PGD Cycles?

    Directory of Open Access Journals (Sweden)

    Elsbeth Dul

    2014-04-01

    Full Text Available Translocation carriers have an increased risk of miscarriage or the birth of a child with congenital anomalies. Preimplantation genetic diagnosis (PGD is performed in translocation carriers to select for balanced embryos and, thus, increase the chance of an ongoing pregnancy. However, a common experience is that reciprocal translocation carriers produce a high percentage of unbalanced embryos, which cannot be transferred. Therefore, the pregnancy rates in PGD in this patient group are low. In a cohort of 85 reciprocal translocation carriers undergoing PGD we have searched for cytogenetic characteristics of the translocations that can predict the percentage of balanced embryos. Using shape algorithms, the most likely segregation mode per translocation was determined. Shape algorithm, breakpoint location, and relative chromosome segment sizes proved not to be independent predictors of the percentage of balanced embryos. The ratio of the relative sizes of the translocated segments of both translocation chromosomes can give some insight into the chance of transferable embryos: Very asymmetrical translocations have a higher risk of unbalanced products (p = 0.048. Counseling of the couples on the pros and cons of all their reproductive options remains very important.

  8. Rapid mapping of chromosomal breakpoints: from blood to BAC in 20 days

    OpenAIRE

    Mei Wang; Adolf Baumgartner; Weier, Jingly F.; Johnson Kwan; Chun-Mei Lu; Tomas Escudero; Santiago MunnĂŠ; Weier, Heinz-Ulrich G.

    2009-01-01

    Structural chromosome aberrations and associated segmental or chromosomal aneusomies are major causes of reproductive failure in humans. Despite the fact that carriers of reciprocal balanced translocation often have no other clinical symptoms or disease, impaired chromosome homologue pairing in meiosis and karyokinesis errors lead to over-representation of translocations carriers in the infertile population and in recurrent pregnancy loss patients. At present, clinicians have no means to sele...

  9. Chromosome Aberrations by Heavy Ions

    Science.gov (United States)

    Ballarini, Francesca; Ottolenghi, Andrea

    It is well known that mammalian cells exposed to ionizing radiation can show different types of chromosome aberrations (CAs) including dicentrics, translocations, rings, deletions and complex exchanges. Chromosome aberrations are a particularly relevant endpoint in radiobiology, because they play a fundamental role in the pathways leading either to cell death, or to cell conversion to malignancy. In particular, reciprocal translocations involving pairs of specific genes are strongly correlated (and probably also causally-related) with specific tumour types; a typical example is the BCR-ABL translocation for Chronic Myeloid Leukaemia. Furthermore, aberrations can be used for applications in biodosimetry and more generally as biomarkers of exposure and risk, that is the case for cancer patients monitored during Carbon-ion therapy and astronauts exposed to space radiation. Indeed hadron therapy and astronauts' exposure to space radiation represent two of the few scenarios where human beings can be exposed to heavy ions. After a brief introduction on the main general features of chromosome aberrations, in this work we will address key aspects of the current knowledge on chromosome aberration induction, both from an experimental and from a theoretical point of view. More specifically, in vitro data will be summarized and discussed, outlining important issues such as the role of interphase death/mitotic delay and that of complex-exchange scoring. Some available in vivo data on cancer patients and astronauts will be also reported, together with possible interpretation problems. Finally, two of the few available models of chromosome aberration induction by ionizing radiation (including heavy ions) will be described and compared, focusing on the different assumptions adopted by the authors and on how these models can deal with heavy ions.

  10. Atypical Down syndrome phenotype in a girl with 21;21 translocation trisomy.

    Science.gov (United States)

    Tuysuz, B; Yavuz, A; Ozdil, M; Caferler, J; Ozon, H

    2010-01-01

    We describe a girl with microcephaly, short stature, coarse face, severe growth and developmental delay, seizures, hypertonia, bilateral flexion contractures of the knees, and a de novo 21;21 translocation trisomy 21 in peripheral blood lymphocytes. Fluorescence in situ hybridization (FISH) analysis confirmed the trisomy 21 translocation using whole chromosome painting probe 21 (WCP21). Chromosome analysis which was also performed on skin fibroblasts and revealed mosaicism for a translocation trisomy 21 cell line (22.3%) as well as a second cell line consisting of one normal chromosome 21 and a small ring chromosome 21 derived from the translocation 21q21q (61%) and a third line consisting of monosomy 21 (16.7%). FISH analyses by LS121 probe for the critical (21q22.2-22.3) region of Down syndrome (DS) on interphase blood cells resulted with 30% two signals and 70% three signals, skin fibroblasts showed 84% single signal, 9% two signals and 7% three signals. The size of ring chromosome 21 in skin fibroblasts was very small and probably there was a large, more proximally located deletion including chromosome 21q22 band. We consider that the atypical DS phenotype of the patient originated from the small ring chromosome 21 and the monosomy 21 in the skin fibroblasts and other tissues not available for analysis. Therefore, the clinical findings of the patient were most similar to monosomy 21 mosaicism syndrome. PMID:20420031

  11. Effect of the Major Repeat Sequence on Chromosome Loss in Candida albicans

    OpenAIRE

    Lephart, Paul R.; Chibana, Hiroji; Magee, Paul T.

    2005-01-01

    The major repeat sequence (MRS) is found at least once on all but one chromosome in Candida albicans, but as yet it has no known relation to the phenotype. The MRS affects karyotypic variation by serving as a hot spot for chromosome translocation and by expanding and contracting internal repeats, thereby changing chromosome length. Thus, MRSs on different chromosomes and those on chromosome homologues can differ in size. We proposed that the MRS's unique repeat structure and, more specificall...

  12. Filament depolymerization can pull a chromosome during bacterial mitosis

    Science.gov (United States)

    Banigan, Edward; Gelbart, Michael; Gitai, Zemer; Liu, Andrea; Wingreen, Ned

    2011-03-01

    Chromosome segregation is fundamental to all cells, but the force-generating mechanisms underlying chromosome translocation in bacteria remain mysterious. Caulobacter crescentus utilizes a depolymerization-driven process in which a ParA protein structure elongates from the new cell pole and binds to a ParB-decorated chromosome, and then retracts via disassembly, thus pulling the chromosome across the cell. This poses the question of how a depolymerizing structure can robustly pull the chromosome that is disassembling it. We perform Brownian dynamics simulations with a simple and physically consistent model of the ParABS system. The simulations suggest that the mechanism of translocation is ``self-diffusiophoretic'': by disassembling ParA, ParB generates a ParA concentration gradient so that the concentration of ParA is higher in front of the chromosome than behind it. Since the chromosome is attracted to ParA via ParB, it moves up the ParA gradient and across the cell. We find that translocation is controlled by the product of an effective relaxation time for the chromosome and the rate of ParA disassembly. Our results provide a physical explanation of the mechanism of depolymerization-driven translocation and suggest physical explanations for recent experimental observations.

  13. Irradiation induced wheat-alien translocation lines and their application in wheat breeding

    International Nuclear Information System (INIS)

    Wild relatives are rich gene resources for wheat improvement. Transfer of alien useful genes to wheat through development of wheat-alien translocations, especially small alien segment translocations, is important for wheat breeding. Wheat-alien genetic stocks such as amphiploid, addition or substitution lines were irradiated for translocation induction. Mature male or female gametes before flowering on the spikes were irradiated by 60Co-γ-rays at doses ranged from 8 to 22.4Gy. Chromosome C-banding and genomic in situ hybridization (GISH) were used to identify chromosome translocation. Backcross of M1 plants using normal fresh pollen of common wheat was employed to enhance the transmission rate of various structural changes in their progenies. The results showed that the dose of 8∼12Gy was suitable for pollen irradiation while 15∼20Gy was suitable for female-gamete irradiation. Irradiation treatment just before gamete maturation is advantageous to acquisition of more M1 hybrids with high frequency of chromosome structural variation. The frequency of plants with at least one translocation chromosome in M1 could be increased up to 70% through pollen irradiation of Triticum durum-Haynaldia villosa amphiploid. More than one hundred translocated chromosomes have been identified in the BC1 and BC2. 57 terminal and 80 intercalary translocations with small alien chromosome segments were induced through female-gamete irradiation conducted on T.aestivum-H.villosa 6VS/6AL translocation line. For the 22.4Gy dosage treatment, the induction frequencies of interstitial translocation, terminal translocation and deletion were 21.02%, 14.01%, and 14.65%, respectively, which were much higher than that previously reported. These genetic stocks will be useful for physical mapping of alien genes such as Pm21. Some compensate translocations conveying useful agronomic traits would be useful in wheat breeding. The T.aestivum-H.villosa 6VS/6AL translocation has been used in wheat

  14. Stability of the translocation frequency following whole-body irradiation measured in rhesus monkeys

    Science.gov (United States)

    Lucas, J. N.; Hill, F. S.; Burk, C. E.; Cox, A. B.; Straume, T.

    1996-01-01

    Chromosome translocations are persistent indicators of prior exposure to ionizing radiation and the development of 'chromosome painting' to efficiently detect translocations has resulted in a powerful biological dosimetry tool for radiation dose reconstruction. However, the actual stability of the translocation frequency with time after exposure must be measured before it can be used reliably to obtain doses for individuals exposed years or decades previously. Human chromosome painting probes were used here to measure reciprocal translocation frequencies in cells from two tissues of 8 rhesus monkeys (Macaca mulatta) irradiated almost three decades previously. Six of the monkeys were exposed in 1965 to whole-body (fully penetrating) radiation and two were unexposed controls. The primates were irradiated as juveniles to single doses of 0.56, 1.13, 2.00, or 2.25 Gy. Blood lymphocytes (and skin fibroblasts from one individual) were obtained for cytogenetic analysis in 1993, near the end of the animals' lifespans. Results show identical dose-response relationships 28 y after exposure in vivo and immediately after exposure in vitro. Because chromosome aberrations are induced with identical frequencies in vivo and in vitro, these results demonstrate that the translocation frequencies induced in 1965 have not changed significantly during the almost three decades since exposure. Finally, our emerging biodosimetry data for individual radiation workers are now confirming the utility of reciprocal translocations measured by FISH in radiation dose reconstruction.

  15. Disrupting Business

    DEFF Research Database (Denmark)

    Cox, Geoff; Bazzichelli, Tatiana

    Disruptive Business explores some of the interconnections between art, activism and the business concept of disruptive innovation. With a backdrop of the crisis of financial capitalism, austerity cuts in the cultural sphere, the idea is to focus on potential art strategies in relation to a broken...... economy. In a perverse way, we ask whether this presents new opportunities for cultural producers to achieve more autonomy over their production process. If it is indeed possible, or desirable, what alternative business models emerge? The book is concerned broadly with business as material for reinvention...

  16. Filament depolymerization can explain chromosome pulling during bacterial mitosis.

    Directory of Open Access Journals (Sweden)

    Edward J Banigan

    2011-09-01

    Full Text Available Chromosome segregation is fundamental to all cells, but the force-generating mechanisms underlying chromosome translocation in bacteria remain mysterious. Caulobacter crescentus utilizes a depolymerization-driven process in which a ParA protein structure elongates from the new cell pole, binds to a ParB-decorated chromosome, and then retracts via disassembly, pulling the chromosome across the cell. This poses the question of how a depolymerizing structure can robustly pull the chromosome that disassembles it. We perform Brownian dynamics simulations with a simple, physically consistent model of the ParABS system. The simulations suggest that the mechanism of translocation is "self-diffusiophoretic": by disassembling ParA, ParB generates a ParA concentration gradient so that the ParA concentration is higher in front of the chromosome than behind it. Since the chromosome is attracted to ParA via ParB, it moves up the ParA gradient and across the cell. We find that translocation is most robust when ParB binds side-on to ParA filaments. In this case, robust translocation occurs over a wide parameter range and is controlled by a single dimensionless quantity: the product of the rate of ParA disassembly and a characteristic relaxation time of the chromosome. This time scale measures the time it takes for the chromosome to recover its average shape after it is has been pulled. Our results suggest explanations for observed phenomena such as segregation failure, filament-length-dependent translocation velocity, and chromosomal compaction.

  17. Numerical and structural chromosome aberrations in cauliflower (Brassica oleracea var. botrytis) and Arabidopsis thaliana

    OpenAIRE

    Ji, X.

    2014-01-01

    Numerical and structural chromosome aberrations in cauliflower (Brassica oleracea var. botrytis) and Arabidopsis thaliana. I studied numerical and structural chromosome aberrations in cauliflower (Brassica oleracea var. botrytis) and Arabidopsis thaliana. The large genomic changes are important for gene balance control, gene expression and regulation, and may affect the plant’s phenotype. Moreover, chromosome changes, in particular polyploidy, inversions and translocations play a signif...

  18. Three way translocation in a new variant of t(8;21 acute myeloid leukemia involving Xp22

    Directory of Open Access Journals (Sweden)

    Vundinti B

    2008-01-01

    Full Text Available The t(8;21(q22;q22 is one of the most frequent chromosomal abnormality associated with acute myeloid leukemia (AML M2 sub type. The additional chromosomal abnormalities including structural and numerical are frequently reported with the translocation, t (8;21(q22;q22. We report a case of AML-M2 with t(X;8;21(p22;q22;q22 associated with loss of Y chromosome. Using a dual color fluorescence in situ hybridization (FISH analysis with ETO and AML1 probes, we demonstrated an ETO/AML1 fusion signal on the derivative chromosome 8 and one ETO signal on derivative Chromosome Xp22. The patient did not respond to therapy and follow-up of cytogenetics revealed same chromosome abnormality. Hence, this three way translocation involving X chromosome might be associated with poor prognosis.

  19. Disruption of a Large Intergenic Noncoding RNA in Subjects with Neurodevelopmental Disabilities

    Science.gov (United States)

    Talkowski, Michael E.; Maussion, Gilles; Crapper, Liam; Rosenfeld, Jill A.; Blumenthal, Ian; Hanscom, Carrie; Chiang, Colby; Lindgren, Amelia; Pereira, Shahrin; Ruderfer, Douglas; Diallo, Alpha B.; Lopez, Juan Pablo; Turecki, Gustavo; Chen, Elizabeth S.; Gigek, Carolina; Harris, David J.; Lip, Va; An, Yu; Biagioli, Marta; MacDonald, Marcy E.; Lin, Michael; Haggarty, Stephen J.; Sklar, Pamela; Purcell, Shaun; Kellis, Manolis; Schwartz, Stuart; Shaffer, Lisa G.; Natowicz, Marvin R.; Shen, Yiping; Morton, Cynthia C.; Gusella, James F.; Ernst, Carl

    2012-01-01

    Large intergenic noncoding (linc) RNAs represent a newly described class of ribonucleic acid whose importance in human disease remains undefined. We identified a severely developmentally delayed 16-year-old female with karyotype 46,XX,t(2;11)(p25.1;p15.1)dn in the absence of clinically significant copy number variants (CNVs). DNA capture followed by next-generation sequencing of the translocation breakpoints revealed disruption of a single noncoding gene on chromosome 2, LINC00299, whose RNA product is expressed in all tissues measured, but most abundantly in brain. Among a series of additional, unrelated subjects referred for clinical diagnostic testing who showed CNV affecting this locus, we identified four with exon-crossing deletions in association with neurodevelopmental abnormalities. No disruption of the LINC00299 coding sequence was seen in almost 14,000 control subjects. Together, these subjects with disruption of LINC00299 implicate this particular noncoding RNA in brain development and raise the possibility that, as a class, abnormalities of lincRNAs may play a significant role in human developmental disorders. PMID:23217328

  20. Patterns of replication in the neo-sex chromosomes of Drosophila nasuta albomicans

    Indian Academy of Sciences (India)

    G Mahesh; N B Ramachandra; H A Ranganath

    2000-09-01

    Drosophila nasuta albomicans (with 2n = 6), contains a pair of metacentric neo-sex chromosomes. Phylogenetically these are products of centric fusion between ancestral sex (X, Y) chromosomes and an autosome (chromosome 3). The polytene chromosome complement of males with a neo-X- and neo-Y-chromosomes has revealed asynchrony in replication between the two arms of the neo-sex chromosomes. The arm which represents the ancestral X-chromosome is faster replicating than the arm which represents ancestral autosome. The latter arm of the neo-sex chromosome is synchronous with other autosomes of the complement. We conclude that one arm of the neo-X/Y is still mimicking the features of an autosome while the other arm has the features of a classical X/Y-chromosome. This X-autosome translocation differs from the other evolutionary X-autosome translocations known in certain species of Drosophila.

  1. Evaluating Translocation Gene Fusions by SNP Array Data

    OpenAIRE

    Hong Liu; Asher Zilberstein; Pascal Pannier; Frederic Fleche; Christopher Arendt; Christoph Lengauer; Chang S Hahn

    2011-01-01

    Somatic cell genetic alterations are a hallmark of tumor development and progression. Although various technologies have been developed and utilized to identify genetic aberrations, identifying genetic translocations at the chromosomal level is still a challenging task. High density SNP microarrays are useful to measure DNA copy number variation (CNV) across the genome. Utilizing SNP array data of cancer cell lines and patient samples, we evaluated the CNV and copy number breakpoints for seve...

  2. Correlation of chromosome patterns in human leukemic cells with exposure to chemicals and/or radiation

    Energy Technology Data Exchange (ETDEWEB)

    Rowley, J.D.

    1992-06-01

    This project seeks to defining the chromosome segments associated with radiation induced leukemogenesis (treatment-related acute myeloid leukemia, or t-AML). Towards these goals genetic analysis of human chromosomes 5 and 7 continues to investigate correlation of treatment with balanced and unbalanced chromosomal translocations. Progress is being made in cloning the breakpoints in balanced translocations in t-AML, that is to clone the t(9;11) and t(11;19) breakpoints, to clone the t(3;21)(q26;q22) breakpoints and to determine the relationship of these translocations to prior exposure to topoisomerase II inhibitors. 11 figs. 3 figs.

  3. Correlation of chromosome patterns in human leukemic cells with exposure to chemicals and/or radiation

    International Nuclear Information System (INIS)

    This project seeks to defining the chromosome segments associated with radiation induced leukemogenesis (treatment-related acute myeloid leukemia, or t-AML). Towards these goals genetic analysis of human chromosomes 5 and 7 continues to investigate correlation of treatment with balanced and unbalanced chromosomal translocations. Progress is being made in cloning the breakpoints in balanced translocations in t-AML, that is to clone the t(9;11) and t(11;19) breakpoints, to clone the t(3;21)(q26;q22) breakpoints and to determine the relationship of these translocations to prior exposure to topoisomerase II inhibitors. 11 figs. 3 figs

  4. Molecular and cytogenetic characterization of two patients with recurrent miscarriages and X-autosome translocation

    Directory of Open Access Journals (Sweden)

    Usha R Dutta

    2012-01-01

    Full Text Available Aim: To report two patients with recurrent miscarriages and unique reciprocal X-autosomal translocation. Materials and Methods: Cytogenetic analysis was performed using G-banding and Molecular cytogenetic analysis by Fluorescence in situ hybridization to confirm the breakpoint regions. Results: The chromosomal analysis of the two cases revealed a karyotype of 46,X,t(X;22(p11.21;q13.3 in the first patient and 46,X,t(X;2(q22;q13 in second patient. Both the cases were confirmed by using whole chromosome paint probes. Conclusions: This is the rare report of X-autosomal translocations with unique breakpoint regions and their association with recurrent miscarriages. The translocation breakpoint in case 2 on Xq22 and on Xp11.21 in case 1 might be a risk factor for recurrent miscarriages. Here the impact of the X-autosomal translocations is discussed.

  5. Wnt signaling induces transcription, spatial proximity, and translocation of fusion gene partners in human hematopoietic cells.

    Science.gov (United States)

    Ugarte, Giorgia D; Vargas, Macarena F; Medina, Matías A; León, Pablo; Necuñir, David; Elorza, Alvaro A; Gutiérrez, Soraya E; Moon, Randall T; Loyola, Alejandra; De Ferrari, Giancarlo V

    2015-10-01

    Chromosomal translocations are frequently associated with a wide variety of cancers, particularly hematologic malignancies. A recurrent chromosomal abnormality in acute myeloid leukemia is the reciprocal translocation t(8;21) that fuses RUNX1 and ETO genes. We report here that Wnt/β-catenin signaling increases the expression of ETO and RUNX1 genes in human hematopoietic progenitors. We found that β-catenin is rapidly recruited into RNA polymerase II transcription factories (RNAPII-Ser5) and that ETO and RUNX1 genes are brought into close spatial proximity upon Wnt3a induction. Notably, long-term treatment of cells with Wnt3a induces the generation a frequent RUNX1-ETO translocation event. Thus, Wnt/β-catenin signaling induces transcription and translocation of RUNX1 and ETO fusion gene partners, opening a novel window to understand the onset/development of leukemia. PMID:26333776

  6. Retrospective dosimetry by chromosomal analysis

    International Nuclear Information System (INIS)

    The joint EU/CIS project ECP-6, was set up to examine whether cytogenetic dosimetry is possible for persons irradiated years previously at Chernobyl. The paper describes the possibility of achieving this by the examination of blood lymphocytes for unstable and stable chromosome aberrations; dicentrics and translocations. Emphasis was placed on the relatively new fluorescence in situ hybridization (FISH) method for rapid screening for stable translocations. In a collaborative experiment in vitro dose response calibration curves for dicentrics and FISH were produced with gamma radiation over the range 0-1.0 Gy. A pilot study of about 60 liquidators with registered doses ranging from 0-300 mSv was undertaken to determine whether the chromosomal methods may verify the recorded doses. It was concluded that the dicentric is no longer valid as a measured endpoint. Translocations may be used to verify early dosimetry carried out on highly irradiated persons. For the vast majority of lesser exposed subjects FISH is impractical as an individual dosimeter; it may have some value for comparing groups of subjects

  7. Studies of Experimental Bacterial Translocation

    OpenAIRE

    Stenbäck, Anders

    2005-01-01

    One of the main obstacles to maintaining patients with short bowel syndrome on parenteral nutrition, or successfully transplanting these patients with a small bowel graft, is the many severe infections that occur. Evidence is accumulating that translocating bacteria from the patient’s bowel causes a significant part of these infections. In this thesis bacterial translocation is studied in a Thiry-Vella loop of defunctionalised small bowel in the rat. Bacterial translocation to the mesenteric ...

  8. The origin of recurrent translocations in recombining lymphocytes: a balance between break frequency and nuclear proximity

    OpenAIRE

    Rocha, Pedro P.; Skok, Jane A.

    2013-01-01

    Translocations occur through the aberrant joining of large stretches of non-contiguous chromosomal regions. The substrates for these illegitimate rearrangements can arise as a result of damage incurred during normal cellular processes, such as transcription and replication, or through the action of genotoxic agents. In lymphocytes many translocations bear signs of having originated from abnormalities introduced during programmed recombination. Although recombination is tightly controlled at d...

  9. Disrupted Disclosure

    DEFF Research Database (Denmark)

    Krause Hansen, Hans; Uldam, Julie

    While projects of governance by transparency have become widespread over the past decades, theyare usually investigated and theorized in isolation from the wider field of visibility and surveillancein which they are embedded. Building on theories of governance, visibility and surveillance...... appearances become challenged through disruptive disclosures in mediaenvironments characterized by multiple levels of visibility, with companies both observing andbeing observed by civil society groups that criticize them; (c) why and how the mobilization aroundtransparency and ensuing practices...

  10. A t(5;16) translocation is the likely driver of a syndrome with ambiguous genitalia, facial dysmorphism, intellectual disability, and speech delay

    Science.gov (United States)

    Ozantürk, Ayşegül; Davis, Erica E.; Sabo, Aniko; Weiss, Marjan M.; Muzny, Donna; Dugan-Perez, Shannon; Sistermans, Erik A.; Gibbs, Richard A.; Özgül, Köksal R.; Yalnızoglu, Dilek; Serdaroglu, Esra; Dursun, Ali; Katsanis, Nicholas

    2016-01-01

    Genetic studies grounded on monogenic paradigms have accelerated both gene discovery and molecular diagnosis. At the same time, complex genomic rearrangements are also appreciated as potent drivers of disease pathology. Here, we report two male siblings with a dysmorphic face, ambiguous genitalia, intellectual disability, and speech delay. Through quad-based whole-exome sequencing and concomitant molecular cytogenetic testing, we identified two copy-number variants (CNVs) in both affected individuals likely arising from a balanced translocation: a 13.5-Mb duplication on Chromosome 16 (16q23.1 → 16qter) and a 7.7-Mb deletion on Chromosome 5 (5p15.31 → 5pter), as well as a hemizygous missense variant in CXorf36 (also known as DIA1R). The 5p terminal deletion has been associated previously with speech delay, whereas craniofacial dysmorphia and genital/urinary anomalies have been reported in patients with a terminal duplication of 16q. However, dosage changes in either genomic region alone could not account for the overall clinical presentation in our family; functional testing of CXorf36 in zebrafish did not induce defects in neurogenesis or the craniofacial skeleton. Notably, literature and database analysis revealed a similar dosage disruption in two siblings with extensive phenotypic overlap with our patients. Taken together, our data suggest that dosage perturbation of genes within the two chromosomal regions likely drives the syndromic manifestations of our patients and highlight how multiple genetic lesions can contribute to complex clinical pathologies.

  11. A t(5;16) translocation is the likely driver of a syndrome with ambiguous genitalia, facial dysmorphism, intellectual disability, and speech delay.

    Science.gov (United States)

    Ozantürk, Ayşegül; Davis, Erica E; Sabo, Aniko; Weiss, Marjan M; Muzny, Donna; Dugan-Perez, Shannon; Sistermans, Erik A; Gibbs, Richard A; Özgül, Köksal R; Yalnızoglu, Dilek; Serdaroglu, Esra; Dursun, Ali; Katsanis, Nicholas

    2016-03-01

    Genetic studies grounded on monogenic paradigms have accelerated both gene discovery and molecular diagnosis. At the same time, complex genomic rearrangements are also appreciated as potent drivers of disease pathology. Here, we report two male siblings with a dysmorphic face, ambiguous genitalia, intellectual disability, and speech delay. Through quad-based whole-exome sequencing and concomitant molecular cytogenetic testing, we identified two copy-number variants (CNVs) in both affected individuals likely arising from a balanced translocation: a 13.5-Mb duplication on Chromosome 16 (16q23.1 → 16qter) and a 7.7-Mb deletion on Chromosome 5 (5p15.31 → 5pter), as well as a hemizygous missense variant in CXorf36 (also known as DIA1R). The 5p terminal deletion has been associated previously with speech delay, whereas craniofacial dysmorphia and genital/urinary anomalies have been reported in patients with a terminal duplication of 16q. However, dosage changes in either genomic region alone could not account for the overall clinical presentation in our family; functional testing of CXorf36 in zebrafish did not induce defects in neurogenesis or the craniofacial skeleton. Notably, literature and database analysis revealed a similar dosage disruption in two siblings with extensive phenotypic overlap with our patients. Taken together, our data suggest that dosage perturbation of genes within the two chromosomal regions likely drives the syndromic manifestations of our patients and highlight how multiple genetic lesions can contribute to complex clinical pathologies. PMID:27148584

  12. Molecular cytogenetic characterization of novel wheat-Thinopyrum bessarabicum recombinant lines carrying intercalary translocations.

    Science.gov (United States)

    Patokar, Chetan; Sepsi, Adel; Schwarzacher, Trude; Kishii, Masahiro; Heslop-Harrison, J S

    2016-03-01

    Thinopyrum bessarabicum (2n = 2x = 14, JJ or E(b)E(b)) is a valuable source of genes for bread wheat (2n = 6x = 42) improvement because of its salinity tolerance and disease resistance. Development of wheat-Th. bessarabicum translocation lines by backcrossing the amphiploid in the absence of the Ph1 gene (allowing intergenomic recombination) can assist its utilization in wheat improvement. In this study, six novel wheat-Th. bessarabicum translocation lines involving different chromosome segments (T4BS.4BL-4JL, T6BS.6BL-6JL, T5AS.5AL-5JL, T5DL.5DS-5JS, T2BS.2BL-2JL, and the whole arm translocation T1JS.1AL) were identified and characterized using genomic in situ hybridization (GISH) and fluorescent in situ hybridization (FISH). No background translocations between wheat genomes were observed. The involvement of five of the seven chromosomes and small terminal segments of Th. bessarabicum chromosome arm were important, contributing to both reduced linkage drag of the derived lines by minimizing agronomically deleterious genes from the alien species and high stability including transmission of the alien segment. All three wheat genomes were involved in the translocations with the alien chromosome, and GISH showed the Th. bessarabicum genome was more closely related to the D genome in wheat. All the introgression lines were disomic, stable, and with good morphological characters. PMID:26238987

  13. Exceptional Complex Chromosomal Rearrangements in Three Generations

    Directory of Open Access Journals (Sweden)

    Hannie Kartapradja

    2015-01-01

    Full Text Available We report an exceptional complex chromosomal rearrangement (CCR found in three individuals in a family that involves 4 chromosomes with 5 breakpoints. The CCR was ascertained in a phenotypically abnormal newborn with additional chromosomal material on the short arm of chromosome 4. Maternal karyotyping indicated that the mother carried an apparently balanced CCR involving chromosomes 4, 6, 11, and 18. Maternal transmission of the derivative chromosome 4 resulted in partial trisomy for chromosomes 6q and 18q and a partial monosomy of chromosome 4p in the proband. Further family studies found that the maternal grandmother carried the same apparently balanced CCR as the proband’s mother, which was confirmed using the whole chromosome painting (WCP FISH. High resolution whole genome microarray analysis of DNA from the proband’s mother found no evidence for copy number imbalance in the vicinity of the CCR translocation breakpoints, or elsewhere in the genome, providing evidence that the mother’s and grandmother’s CCRs were balanced at a molecular level. This structural rearrangement can be categorized as an exceptional CCR due to its complexity and is a rare example of an exceptional CCR being transmitted in balanced and/or unbalanced form across three generations.

  14. Chromosomal aberration

    International Nuclear Information System (INIS)

    Chromosomal aberrations are classified into two types, chromosome-type and chromatid-type. Chromosom-type aberrations include terminal deletion, dicentric, ring and interstitial deletion, and chromatid-type aberrations include achromatic lesion, chromatid deletion, isochromatid deletion and chromatid exchange. Clastogens which induce chromosomal aberration are divided into ''S-dependent'' agents and ''S-independent''. It might mean whether they can induce double strand breaks independent of the S phase or not. Double strand breaks may be the ultimate lesions to induce chromosomal aberrations. Caffeine added even in the G2 phase appeared to modify the frequency of chromatid aberrations induced by X-rays and mitomycin C. Those might suggest that the G2 phase involves in the chromatid aberration formation. The double strand breaks might be repaired by ''G2 repair system'', the error of which might yield breakage types of chromatid aberrations and the by-pass of which might yield chromatid exchanges. Chromosome-type aberrations might be formed in the G1 phase. (author)

  15. FtsK translocation on DNA stops at XerCD-dif.

    OpenAIRE

    Graham, JE; Sivanathan, V; Sherratt, DJ; Arciszewska, LK

    2010-01-01

    Escherichia coli FtsK is a powerful, fast, double-stranded DNA translocase, which can strip proteins from DNA. FtsK acts in the late stages of chromosome segregation by facilitating sister chromosome unlinking at the division septum. KOPS-guided DNA translocation directs FtsK towards dif, located within the replication terminus region, ter, where FtsK activates XerCD site-specific recombination. Here we show that FtsK translocation stops specifically at XerCD-dif, thereby preventing removal o...

  16. Premature ovarian failure in a woman with a balanced 15;21 translocation: a case report

    Directory of Open Access Journals (Sweden)

    Asgari Zahra

    2011-06-01

    Full Text Available Abstract Introduction A case of premature ovarian failure with concomitant findings of Robertsonian translocation between 15 and 21 chromosomes is reported here. The aforementioned karyotypic aberration has not been reported in the context of premature ovarian failure to date. Case presentation We present a case of premature ovarian failure in a 27-year-old infertile Kurdish Iranian woman with a Robertsonian 15;21 translocation. Conclusions The diagnosis of premature ovarian failure of unknown etiology, but with karyotypic evidence of a balanced autosomal translocation, suggests the possible role of autosomal genes in the pathogenesis of ovarian follicular attrition.

  17. Further studies on the possible relationship between radiation-induced reciprocal translocations and intrinsic radiosensitivity of human tumor cells

    International Nuclear Information System (INIS)

    Background and purpose. The aim of the present study was to estimate yields of radiation-induced translocations in surviving cells of several human tumor cell lines and in normal diploid human fibroblasts, and to compare these yields with corresponding intrinsic radiosensitivities determined by standard colony-formation assay. Material and methods. The yields of radiation-induced reciprocal translocations were investigated by fluorescence in situ hybridization. Chromosomes no. 1 and no. 4 were 'painted' with fluorescent hybridization probes for whole chromosomes. Translocation yields and cell survival were determined for different doses up to 6 Gy of 200 kV X-rays. Results. We observed a higher frequency of reciprocal translocations in the radiosensitive cells MCF-7 and MDA-MB-436 than in the radioresistant cells CaSki, WiDr, A549 and normal skin fibroblasts. For primary squamous cell carcinoma cells, ZMK-1, an intermediate radiosensitivity and an intermediate translocation yield were observed. The dose-dependence of translocation yields involving chromosomes no. 1 or no. 4 varied in different cell lines: it was linear or linear with a plateau at higher doses. Conclusions. A comparison of the data obtained with chromosomes no. 1 and no. 4 in the investigated cell types, indicates that intrinsic radiosensitivity of different tumor cells observed at the survival level, is correlated with different translocation yields, respectively. This correlation was observed for all cell types investigated, independent of the number of copies of the painted chromosome per cell or the radiation dose. However, for low doses (under 1 Gy), the yields of translocations determined for the individual chromosomes seem to be too low for a discrimination between radioresistant or radiosensitive cells

  18. Inadequate Clearance of Translocated Bacterial Products in HIV-Infected Humanized Mice

    OpenAIRE

    Hofer, Ursula; Schlaepfer, Erika; Baenziger, Stefan; Nischang, Marc; Regenass, Stephan; Schwendener, Reto; Kempf, Werner; Nadal, David; Speck, Roberto F.

    2010-01-01

    Bacterial translocation from the gut and subsequent immune activation are hallmarks of HIV infection and are thought to determine disease progression. Intestinal barrier integrity is impaired early in acute retroviral infection, but levels of plasma lipopolysaccharide (LPS), a marker of bacterial translocation, increase only later. We examined humanized mice infected with HIV to determine if disruption of the intestinal barrier alone is responsible for elevated levels of LPS and if bacterial ...

  19. Inadequate clearance of translocated bacterial products in HIV-infected humanized mice

    OpenAIRE

    Hofer, U.; Schlaepfer, E; Baenziger, S; Nischang, M; Regenass, S.; Schwendener, R.; Kempf, W; Nadal, D; Speck, R F

    2010-01-01

    Bacterial translocation from the gut and subsequent immune activation are hallmarks of HIV infection and are thought to determine disease progression. Intestinal barrier integrity is impaired early in acute retroviral infection, but levels of plasma lipopolysaccharide (LPS), a marker of bacterial translocation, increase only later. We examined humanized mice infected with HIV to determine if disruption of the intestinal barrier alone is responsible for elevated levels of LPS and if bacterial ...

  20. De Novo Balanced Translocation t (7;16) (p22.1; p11.2) Associated with Autistic Disorder

    OpenAIRE

    Nadia Bayou; Ridha M'rad; Ahlem Belhaj; Hussein Daoud; Lamia Ben Jemaa; Ramzi Zemni; Sylvain Briault; M. Bechir Helayem; Habiba Chaabouni

    2008-01-01

    The high incidence of de novo chromosomal aberrations in a population of persons with autism suggests a causal relationship between certain chromosomal aberrations and the occurrence of isolated idiopathic autism. We report on the clinical and cytogenetic findings in a male patient with autism, no physical abnormalities and a de novo balanced (7;16)(p22.1;p16.2) translocation. G-banded chromosomes and fluorescent in situ hybridization (FISH) were used to examine the patient's karyotype as wel...

  1. Breeding of T. aestivum-Ag. intermedium translocation lines with T. timopheevii cytoplasm and characterization by GISH

    Institute of Scientific and Technical Information of China (English)

    2000-01-01

    A male-sterile T. aestivum-Ag. intermedium partial amphiploid with cytoplasm of T. timopheevii as a female parent was crossed to common wheat. The hybrid was backcrossed to the male parent several times continually and self-crossed at last. Two stable lines with common wheat phenotype, H96269-2 and H96278, have been obtained. The chromosome numbers of the two lines are all 2n = 42 in somatic cells. By inoculation test, the two lines show a high level of resistance to yellow rust. Through genomic in situ hybridization (GISH) with Ag. intermedium total genomic DNA as a probe, it is demonstrated that the two stable lines are all small segmental translocation lines, and the translocated chromosome segments from Ag. intermedium are located on the short arm terminals of wheat chromosomes. Genetics analysis suggests that the yellow rust resistance gene(s) are probably located on the translocated chromosome segments of Ag. intermedium.

  2. Meiotic chromosomal variation resulting from irradiation of pollen in maize

    International Nuclear Information System (INIS)

    The objective of this study was to standardize an induction strategy of chromosome aberrations in maize inbred line L-869. Pollen grains irradiated with 0, 36 and 72 Gy were used for fertilization. Resulting seeds were planted in a greenhouse to assess the number of abnormal meiotic cells. Germination, height, sterility and mortality were verified. Cells with delayed separation of chromosomes, translocation, deficiency, abnormal pairing, later condensation and anaphase bridges were observed. The number of abnormalities increased as the dosage increased but chromosome aberration types were the same regardless of the dosages used. Various chromosome-altered plants were obtained without viability loss. (author)

  3. Use of chromosome aberrations for predicting genetic hazards to man

    International Nuclear Information System (INIS)

    The question of the use of chromosome aberrations for predicting genetic hazards to man is discussed under the following headings: interspecific comparisons of dicentric and deletion production in peripheral leukocytes; comparison of dicentric yields in leukocytes to reciprocal translocation yield in spermatogonia; recovery of spermatogonia induced translocations in the sons of irradiated males; cytologically and genetically detected deletions; and current gaps in our knowledge and problems of future interest

  4. 18,X,Y aneuploidies and transmission electron microscopy studies in spermatozoa from five carriers of different reciprocal translocations

    Institute of Scientific and Technical Information of China (English)

    Elena Moretti; Nicola Antonio Pascarelli; Valentina Giannerini; Michela Geminiani; Cecilia Anichini; Oiulia Collodel

    2009-01-01

    We analysed ejaculated spermatozoa from five infertile men with different balanced reciprocal translocations to contribute to the study of meiotic segregation of chromosomes 18, X and Y and also to evaluate sperm morphology by transmission electron microscopy (TEM) analysis. Conventional lymphocyte karyotype analyses highlighted dif-ferent reciprocal balanced translocations: t(12; 13), t(4;9), t(X;8), t(8; 10) and t(3; 16). Semen analysis was performed by light and TEM. Fluorescence in situ hybridization was performed directly on sperm nuclei using centromeric probes for chromosomes 18, X and Y. The carriers of the balanced reciprocal translocations considered in the pres-ent study showed a very similar pattern of sperm pathologies: diffused presence of apoptosis and immaturity. All patients showed meiotic segregation derangements, highlighted by the presence of sperm diploidies and sex chro-mosome disomies particularly related to the failure of the first meiotic division. However, an increased incidence of chromosome 18 aneuploidy was detected in spermatozoa from t(X;8) and t(8;10) carriers. We have also reported values from sex chromosomes such as t(X;8), although the X chromosome was involved in translocation. Since pa-tients with reciprocal translocations and spermatogenetic impairment are candidates for intracytoplasmic sperm in-jection cycles, the study of sperm parameters, and particularly of the level of aneuploidy rates, would provide better information for couples at risk and would contribute to the data in the literature for a better understanding of the ef-fects of chromosomal rearrangement on the whole meiotic process and, in particular, on chromosomes not involved in translocation.

  5. Mechanisms of ring chromosome formation in 11 cases of human ring chromosome 21

    DEFF Research Database (Denmark)

    McGinniss, M J; Kazazian, H H; Stetten, G;

    1992-01-01

    ), resulting in deletion of varying amounts of 21q22.1 to 21qter. The data from one individual who had a Down syndrome phenotype were consistent with asymmetric breakage and reunion of 21q sequences from an intermediate isochromosome or Robertsonian translocation chromosome as reported by Wong et al. Another......We studied the mechanism of ring chromosome 21 (r(21)) formation in 13 patients (11 unique r(21)s), consisting of 7 from five families with familial r(21) and 6 with de novo r(21). The copy number of chromosome 21 sequences in the rings of these patients was determined by quantitative dosage......). The phenotype of patients correlated well with the extent of deletion or duplication of chromosome 21 sequences. These data demonstrate three mechanisms of r(21) formation and show that the phenotype of r(21) patients varies with the extent of chromosome 21 monosomy or trisomy....

  6. Synthetic chromosomes.

    Science.gov (United States)

    Schindler, Daniel; Waldminghaus, Torsten

    2015-11-01

    What a living organism looks like and how it works and what are its components-all this is encoded on DNA, the genetic blueprint. Consequently, the way to change an organism is to change its genetic information. Since the first pieces of recombinant DNA have been used to transform cells in the 1970s, this approach has been enormously extended. Bigger and bigger parts of the genetic information have been exchanged or added over the years. Now we are at a point where the construction of entire chromosomes becomes a reachable goal and first examples appear. This development leads to fundamental new questions, for example, about what is possible and desirable to build or what construction rules one needs to follow when building synthetic chromosomes. Here we review the recent progress in the field, discuss current challenges and speculate on the appearance of future synthetic chromosomes. PMID:26111960

  7. Mechanisms of Chromosome Number Evolution in Yeast

    Science.gov (United States)

    Gordon, Jonathan L.; Byrne, Kevin P.; Wolfe, Kenneth H.

    2011-01-01

    The whole-genome duplication (WGD) that occurred during yeast evolution changed the basal number of chromosomes from 8 to 16. However, the number of chromosomes in post-WGD species now ranges between 10 and 16, and the number in non-WGD species (Zygosaccharomyces, Kluyveromyces, Lachancea, and Ashbya) ranges between 6 and 8. To study the mechanism by which chromosome number changes, we traced the ancestry of centromeres and telomeres in each species. We observe only two mechanisms by which the number of chromosomes has decreased, as indicated by the loss of a centromere. The most frequent mechanism, seen 8 times, is telomere-to-telomere fusion between two chromosomes with the concomitant death of one centromere. The other mechanism, seen once, involves the breakage of a chromosome at its centromere, followed by the fusion of the two arms to the telomeres of two other chromosomes. The only mechanism by which chromosome number has increased in these species is WGD. Translocations and inversions have cycled telomere locations, internalizing some previously telomeric genes and creating novel telomeric locations. Comparison of centromere structures shows that the length of the CDEII region is variable between species but uniform within species. We trace the complete rearrangement history of the Lachancea kluyveri genome since its common ancestor with Saccharomyces and propose that its exceptionally low level of rearrangement is a consequence of the loss of the non-homologous end joining (NHEJ) DNA repair pathway in this species. PMID:21811419

  8. Compositions for chromosome-specific staining

    Science.gov (United States)

    Gray, Joe W.; Pinkel, Daniel

    1998-01-01

    Methods and compositions for staining based upon nucleic acid sequence that employ nucleic acid probes are provided. Said methods produce staining patterns that can be tailored for specific cytogenetic analyses. Said probes are appropriate for in situ hybridization and stain both interphase and metaphase chromosomal material with reliable signals. The nucleic acid probes are typically of a complexity greater than 50 kb, the complexity depending upon the cytogenetic application. Methods are provided to disable the hybridization capacity of shared, high copy repetitive sequences and/or remove such sequences to provide for useful contrast. Still further methods are provided to produce chromosome-specific staining reagents which are made specific to the targeted chromosomal material, which can be one or more whole chromosomes, one or more regions on one or more chromosomes, subsets of chromosomes and/or the entire genome. Probes and test kits are provided for use in tumor cytogenetics, in the detection of disease related loci, in analysis of structural abnormalities, such as translocations, and for biological dosimetry. Further, methods and prenatal test kits are provided to stain targeted chromosomal material of fetal cells, including fetal cells obtained from maternal blood. Still further, the invention provides for automated means to detect and analyse chromosomal abnormalities.

  9. Familial complex chromosome rearrangement ascertained by in situ hybridisation.

    OpenAIRE

    Fuster, C.; Miguez, L; R. Miró; Rigola, M A; Perez, A.; Egozcue, J.

    1997-01-01

    A complex familial chromosome translocation has been ascertained by combining classical cytogenetics and CISS (chromosomal in situ suppression). Cytogenetic analysis of a chorionic villus sample with G banding showed a 47,XX,-2, +der(2)t(2;22),+der(22)t(2;22) karyotype. Analysis of peripheral blood lymphocytes from the parents by G banding and CISS showed a more complex translocation in the father: 46,XY,-2,-11,-22, +der(2) t(2;11)(q13;q23), +der(11) t(11;22) (q23;q11.2), +der(22) t(2;22) (q1...

  10. A jumping Robertsonian translocation; a molecular and cytogenetic study

    Energy Technology Data Exchange (ETDEWEB)

    Park, V.M.; Gross, S.J.; Tharapel, A.T. [Univ. of Tennessee, Memphis, TN (United States)] [and others

    1994-09-01

    Lejeune et al. were the first to use the term {open_quotes}translocation sauteuse{close_quotes} or jumping translocation to describe mosaicism due to the presence of multiple structural rearrangements. In this study, we report the cytogenetic and molecular analyses of a patient with mosaicism for two different Robertsonian translocations, both involving chromosome 21. The proband`s karyotype based on lymphocyte cultures is 45,XX,t(21q22q)/46,XX,-21,+i(21q21q) (98%/2%). Chromosome analysis of skin fibroblasts showed 100% of cells with a 45,XX,t(21q22q) complement. A high level of mosaicism was seen in an ovarian biopsy, where 1/3 of cells exhibited the unbalanced cell line with the 21/21 rearrangement. The proband`s pregnancy history is consistent with the high proportion of the 21/21 rearrangement in her ovary. She has had spontaneous abortions and two livebirths, both of whom are affected with Down syndrome [46,XX,-21,+i(21q21q) and 46,XY,-21,+i(21q21q)]. Analysis of cord blood cultures showed that the second child exhibits low level mosaicism for a normal cell line, which further suggests instability of the 21/21 rearrangement. FISH with alphoid probes showed that the 21/21 and 21/22 rearrangements are dicentric and that each long arm segment retains its appropriate centromere. Segregation studies using microsatellite polymorphisms indicated that the 21/21 rearrangement is an isochromosome. The same technique was used to establish that the proband`s rearrangements formed de novo from her mother`s chromosome 21. An uncommon chromosome 22p polymorphism is maternally derived and is present in the proband`s unbalanced cell line. However, this 22 is absent in the balanced 45,XX,t(21q22q) cell line of the proband because it is involved in the translocation. Therefore, we propose a model in which the i(21q) was the progenitor rearrangement and participated in subsequent nonreciprocal rearrangements characteristic of a jumping translocation.

  11. Molecular analysis of a t(14;14) translocation in leukemic T-cells of an ataxia telangiectasia patient

    International Nuclear Information System (INIS)

    The authors have detected and cloned two rearrangements in the T-cell receptor α locus from a clone of somatic cell hybrids carrying a t(14;14)(q11;q32) chromosomal translocation derived from an ataxia telangiectasia patient with T-cell chronic lymphocytic leukemia. The T-cell clone carrying the t(14;14) chromosomal translocation was known to be present for > 10 years before the onset of overt leukemia. One molecular rearrangement of the T-cell receptor α locus corresponded to a functional variable-joining region (V-J) joining, whereas the other derived from the breakpoint of the t(14;14)(q11;q32) translocation. Chromosomal in situ hybridization of the probe derived from the t(14;14) breakpoint localized the breakpoint region to 14q32.1, apparently the same region that is involved in another ataxia telangiectasia characteristic chromosome translocation, t(7;14)(q35;q32). The 14q32.1 breakpoint is at least 10,000 kilobase pairs (kbp) centromeric to the immunoglobulin heavy chain locus. Sequence analysis of the breakpoint indicates the involvement of a Jα sequence during the translocation. Comigration of high-molecular weight DNA fragments involved with t(7;14) and t(14;14) translocations suggests the presence of a cluster of breakpoints in the 14q32.1 region, the site of a putative oncogene, TCL1

  12. Chromosomal duplication strains of Aspergillus nidulans and their instability

    International Nuclear Information System (INIS)

    Strains of Aspergillus nidulans with chromosomal duplication were obtained after gamma irradiation followed by crossing of the translocated strains with normal strains. From 20 analysed colonies, 12 have shown translocations induced by irradiation. Segregants from four of these translocation strains crossed to normal strains have shown to be unstable although presenting normal morphology. Two segregants were genetically analysed. The first one has shown a duplication of part of linkage groups VIII and the second one presented a duplication of a segment of linkage group V. These new duplication strains in A. nidulans open new perspectives of a more detailed study of the instability phenomenon in this fungus. (Author)

  13. γ-irradiation of wild beet translocation lines and monosomic addition lines in sugar beet carrying nematode resistance genes

    International Nuclear Information System (INIS)

    The beet cyst nematode (BCN, Heterodera schachtii Schmidt) is a severe pest in sugar beet (Beta vulgaris L.). The only sources of resistance are distantly related wild beet species such as Beta procumbens. Sugar beet lines, carrying a translocation from B. procumbens chromosome 1, display complete resistance to the BCN. A nematode resistance gene, designated Hs2pro-7, had been cloned from the translocation line A906001. This gene gave complete resistance in a complementation study done with sugar beet hairy roots, however only partial resistance was found in whole sugar beet plants transformed with the same construct. There are strong indications for a second resistance gene on this translocation designated Hs1-1. Unfortunately, the resistance gene cannot be fine mapped due to complete lack of recombination on the wild beet translocation. In order to narrow down to the target region for Hs1-1, a mutant screening among the offspring of γ- irradiated beets was done. 2670 seeds from a translocation line were irradiated with 100 Gy and 578 resistant M1-offspring were analysed with three molecular markers spread around the translocation. Mutants are presently detected by the absence of molecular markers. A second screening at irradiation levels of 200 and 400 Gy was done and the plants are being analysed. Another experiment was started to produce translocations carrying the B. procumbens chromosome 7 which houses the Hs2pro-7 gene for nematode resistance. This resistance has not been broken by virulent pathotypes of H. schachtii as demonstrated with monosomic addition lines. To select resistant plants with a translocation derived from chromosome 7, 2826 seeds of monosomic addition lines of chromosome 7 were irradiated with 400 Gy. The M1-families will be tested for their resistance and the size of the chromosome fragment introduced will be determined by molecular marker analysis. (author)

  14. Development and Use of Radiation-induced Chromosomal Translocations and Primary Monosomics of Cotton (G. hirsutum L. )%利用诱变技术培育和利用棉花染色体易位系和初级单体

    Institute of Scientific and Technical Information of China (English)

    M. F. SANAMYAN; J. E. PETLYAKOVA; E. M. RAKHMATULLINA; E. A. SHARIPOVA

    2002-01-01

    @@ Over 200 disomie plants with translocations of cotton were recovered as heterozygotes following used by four types of treatments: combined treatment of seeds with colchicines and γ-rays,irradiation of seeds by fast and thermal neutrons and γ-irradiation of pollen. Numbers of translocations obtained were differed in M1, M2and M3 generation after irradiation and after treatment by different doses of irradiation.

  15. Chromosome painting defines genomic rearrangements between red howler monkey subspecies.

    Science.gov (United States)

    Consigliere, S; Stanyon, R; Koehler, U; Agoramoorthy, G; Wienberg, J

    1996-06-01

    We hybridized whole human chromosome-specific DNA libraries to chromosomes of two supposed subspecies of Alouatta seniculus: Alouatta seniculus sara and Alouatta seniculus arctoides. The number of hybridization signals per haploid set is 42 in A. s. sara and 43 in A. s. arctoidea; the two karyotypes differ by at least 16 chromosomal rearrangements, including numerous translocations. An unusual sex chromosome system is shared by both taxa. The sex chromosome system results from a Y translocation with a chromosome homologous to parts of human chromosome 3/15 and can be described as X1X2Y1Y2/X1X1X2X2 (male/female). Both red howlers also have microchromosomes, a highly unusual karyological trait not found in other higher primates. These microchromosomes are not hybridized by any human chromosome paint and therefore are probably composed of repetitive DNA. It is well known that New World monkeys have high karyological variability. It is probable that molecular cytogenetic analyses including chromosome painting will permit an accurate reconstruction of the phylogeny of these monkeys and help establish the ancestral karyotype for higher primates. PMID:8817065

  16. Monitoring translocations by M-FISH and three-color FISH painting techniques. A study of two radiotherapy patients

    International Nuclear Information System (INIS)

    To compare translocation rate using either M-FISH or FISH-3 in two patients treated for head and neck cancer, with a view to retrospective dosimetry. Translocation analysis was performed on peripheral blood lymphocyte cultures from blood samples taken at different times during the radiotherapy (0 Gy, 12 Gy and 50 Gy) and a few months after the end of the treatment (follow-up). Estimated translocation yield varied according to the FISH technique used. At 50 Gy and follow-up points, the translocation yields were higher with FISH-3 than with M-FISH. This difference can be attributed to three events. First, an increase in complex aberrations was observed for 50 Gy and follow-up points compared with 0 Gy and 12 Gy points. Second, at the end of treatment for patient A, involvement of chromosomes 2, 4, 12 in translocations was less than expected according to the Lucas formula. Third, a clone bearing a translocation involving a FISH-3 painted chromosome was detected. More translocations were detected with M-FISH than with FISH-3, and so M-FISH is expected to improve the accuracy of chromosome aberration analyses in some situations. (author)

  17. Genomic regulatory landscapes and chromosomal rearrangements

    DEFF Research Database (Denmark)

    Ladegaard, Elisabete L Engenheiro

    2008-01-01

    determine the complex spatio-temporal expression of the associated trans-dev gene. Rare chromosomal breakpoints that disrupt the integrity of these regulatory landscapes may be used as a tool, not only to make genotype-phenotype associations, but also to link the associated phenotype with the position and...... of CNEs in a zebrafish assay supported the hypothesis that the disruption of the putative regulatory landscapes was responsible for the phenotypes due to long-range position effects....

  18. Survey of human chromosomal abnormalities in Iceland

    Energy Technology Data Exchange (ETDEWEB)

    Jensson, O.; Hauksdottir, H.; Bjarnason, O.; Tulinius, H.

    1976-06-01

    The work of the Chromosome Laboratory of the Genetical Committee of the University of Iceland is reviewed. Initially, the main aim was to carry out cytogenetic typing of all individuals in Iceland with Down's syndrome available for study in institutions and homes, including individuals born in maternity clinics and homes during the eight years of investigation. The results of the chromosome investigation are summarized in Table 1. Lymphocyte cultures were made from a total of 932 individuals from September 1967 to 1975 and 152 individuals with Down's syndrome were cytogenetically typed. Unusual karyotype leading to Down's syndrome was found in 10 cases. Of these six were found to be mosaic, two had D/G and two G/G translocation. By cytogenetic family survey 13 D/G translocation carriers were detected in the family. A separate paper on the cytogenetic survey of Down's syndrome in Iceland is under way.

  19. Retrospective biodosimetry using translocation frequency in a stable cell of occupationally exposed to ionizing radiation

    International Nuclear Information System (INIS)

    Two cases of hematological malignancies were reported in an industrial radiography company over a year, which were reasonably suspected of being consequences of prolonged exposure to ionizing radiation because of the higher incidence than expected in the general population. We analyzed chromosomal aberrations in the peripheral blood lymphocytes from the other workers who had been working under similar circumstances as the patients in the company. Among the subjects tested, 10 workers who belonged to the highest band were followed up periodically for 1.5 years since the first analysis. The aim of this study was to clarify pertinence of translocation analysis to an industrial set-up where chronic exposure was commonly expected. To be a useful tool for a retrospective biodosimetry, the aberrations need to be persistent for a decade or longer. Therefore we calculated the decline rates and half-lives of frequency for both a reciprocal translocation and a dicentric chromosome and compared them. In this study, while the frequency of reciprocal translocations was maintained at the initial level, dicentric chromosomes were decreased to 46.9% (31.0–76.5) of the initial frequency over the follow-up period. Our results support the long-term stability of reciprocal translocation through the cell cycle and validate the usefulness of translocation analysis as a retrospective biodosimetry for cases of occupational exposure. (author)

  20. Detection of a complex translocation using fluorescent in situ hybridization (FISH)

    Energy Technology Data Exchange (ETDEWEB)

    Rosen, B.A. [Brandeis Univ., Waltham, MA (United States); Abuelo, D.N. [Rhode Island Hospital, Providence, RI (United States); Mark, H.F. [Brown Univ. School of Medicine, Providence, RI (United States)

    1994-09-01

    The use of fluorescent in situ hybridization (FISH) allowed the detection of a complex 3-way translocation in a patient with multiple congenital malformations and mental retardation. The patient was a 10-year-old girl with mental retardation, seizures, repaired cleft palate, esotropia, epicanthal folds, broad nasal bridge, upward slanting palpebral fissures, single transverse palmar crease, brachydactyly, hypoplastic nails, ectrodactyly between the third and fourth right toes, and hypoplasia of the left third toe. Chromosome analysis performed at birth was reported as normal. We performed high resolution banding analysis which revealed an apparently balanced translocation between chromosomes 2 and 9. However, because of her multiple abnormalities, further studies were ordered. Fluorescent in situ hybridization (FISH) using chromosome painting probes revealed a karyotype of 46,XX,t(2;8;9) (2pter{yields}q31::8q21.2{yields}8qter; 8pter{yields}q21.2::2q31{yields}q34::9q34{yields}qter; 9pter{yields}q34::2q34{yields}qter). The 3-way translocation appears to be de novo, as neither parent is a translocation carrier. This case illustrates the importance of using FISH to further investigate cases of apparently balanced translocations in the presence of phenotypic abnormalities and/or mental retardation.

  1. Abdominal radiation causes bacterial translocation

    International Nuclear Information System (INIS)

    The purpose of this study was to determine if a single dose of radiation to the rat abdomen leads to bacterial translocation into the mesenteric lymph nodes (MLN). A second issue addressed was whether translocation correlates with anatomic damage to the mucosa. The radiated group (1100 cGy) which received anesthesia also was compared with a control group and a third group which received anesthesia alone but no abdominal radiation. Abdominal radiation lead to 100% positive cultures of MLN between 12 hr and 4 days postradiation. Bacterial translocation was almost nonexistent in the control and anesthesia group. Signs of inflammation and ulceration of the intestinal mucosa were not seen until Day 3 postradiation. Mucosal damage was maximal by Day 4. Bacterial translocation onto the MLN after a single dose of abdominal radiation was not apparently dependent on anatomical, histologic damage of the mucosa

  2. Mitotic Origins of Chromosomal Instability in Colorectal Cancer

    OpenAIRE

    Dalton, W. Brian; Yang, Vincent W.

    2007-01-01

    Mitosis is a crucial part of the cell cycle. A successful mitosis requires the proper execution of many complex cellular behaviors. Thus, there are many points at which mitosis may be disrupted. In cancer cells, chronic disruption of mitosis can lead to unequal segregation of chromosomes, a phenomenon known as chromosomal instability. A majority of colorectal tumors suffer from this instability, and recent studies have begun to reveal the specific ways in which mitotic defects promote chromos...

  3. Structural insights into ribosome translocation.

    Science.gov (United States)

    Ling, Clarence; Ermolenko, Dmitri N

    2016-09-01

    During protein synthesis, tRNA and mRNA are translocated from the A to P to E sites of the ribosome thus enabling the ribosome to translate one codon of mRNA after the other. Ribosome translocation along mRNA is induced by the universally conserved ribosome GTPase, elongation factor G (EF-G) in bacteria and elongation factor 2 (EF-2) in eukaryotes. Recent structural and single-molecule studies revealed that tRNA and mRNA translocation within the ribosome is accompanied by cyclic forward and reverse rotations between the large and small ribosomal subunits parallel to the plane of the intersubunit interface. In addition, during ribosome translocation, the 'head' domain of small ribosomal subunit undergoes forward- and back-swiveling motions relative to the rest of the small ribosomal subunit around the axis that is orthogonal to the axis of intersubunit rotation. tRNA/mRNA translocation is also coupled to the docking of domain IV of EF-G into the A site of the small ribosomal subunit that converts the thermally driven motions of the ribosome and tRNA into the forward translocation of tRNA/mRNA inside the ribosome. Despite recent and enormous progress made in the understanding of the molecular mechanism of ribosome translocation, the sequence of structural rearrangements of the ribosome, EF-G and tRNA during translocation is still not fully established and awaits further investigation. WIREs RNA 2016, 7:620-636. doi: 10.1002/wrna.1354 For further resources related to this article, please visit the WIREs website. PMID:27117863

  4. Sequence-Based Analysis of Translocations and Inversions in Bread Wheat (Triticum aestivum L.)

    Czech Academy of Sciences Publication Activity Database

    Ma, J.; Stiller, J.; Berkman, P.J.; Wei, Y.M.; Rogers, J.; Feuillet, C.; Doležel, Jaroslav; Mayer, K. F.; Eversole, K.; Zheng, Y.L.; Liu, C.L.

    2013-01-01

    Roč. 8, č. 11 (2013). E-ISSN 1932-6203 Institutional research plan: CEZ:AV0Z50380511 Keywords : CHROMOSOMAL TRANSLOCATIONS * HOMOEOLOGOUS GROUP-4 * EVOLUTION Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 3.534, year: 2013

  5. Ionizing Radiation Induces HMGB1 Cytoplasmic Translocation and Extracellular Release

    Institute of Scientific and Technical Information of China (English)

    Lili Wang; Li He; Guoqiang Bao; Xin He; Saijun Fan; Haichao Wang

    2016-01-01

    Objective A nucleosomal protein,HMGBI,can be secreted by activated immune cells or passively released by dying cells,thereby amplifying rigorous inflammatory responses.In this study we aimed to test the possibility that radiation similarly induces cytoplasmic HMGB1 translocation and release.Methods Human skin fibroblast (GM0639) and bronchial epithelial (16HBE) cells and rats were exposed to X-ray radiation,and HMGB1 translocation and release were then assessed by immunocytochemistry and immunoassay,respectively.Results At a wide dose range(4.0-12.0 Gy),X-ray radiation induced a dramatic cytoplasmic HMGB1 translocation,and triggered a time-and dose-dependent HMGB1 release both in vitro and in vivo.The radiation-mediated HMGB1 release was also associated with noticeable chromosomal DNA damage and loss of cell viability.Conclusions Radiation induces HMGB1 cytoplasmic translocation and extracellular release through active secretion and passive leakage processes.

  6. Stable chromosome aberrations in the reconstruction of radiation doses

    International Nuclear Information System (INIS)

    Chromosome-type aberrations, such as dicentric and translocation chromosomes, are biomarkers of exposure to ionizing radiation. So far, analysis of dicentric chromosomes in peripheral blood lymphocytes has been the only method routinely used in biological dose assessment. During division of T cell precursors, proliferative death of cells containing dicentric chromosomes reduces the number of such lymphocytes in peripheral blood. Dicentrics are thus suitable for dose calculations during a reasonably short period after exposure to radiation. Unlike dicentrics, translocations persist in cell division and enable dose estimation over long time periods following exposure. A recent development in molecular biology, the FISH (fluorescence in situ hybridization) chromosome-painting technique, has opened the possibility for accurate recognition of translocations and thus retrospective determination of dose. The purpose of the present study was to evaluate the applicability of translocation analysis by means of FISH chromosome painting for retrospective dosimetry. In the construction of acute dose-effect curves for 60Co g-ray-induced chromosomal aberrations using FISH chromosome painting, translocations showed a linear-quadratic relationship to dose, similar to that seen in dicentrics. Donor-dependent translocation frequencies at control level and at low doses were observed. The linear part of the calibration curve for two way translocations, i.e. both translocation chromosomes present, proved to be more reliable than the comparable low-dose response for total translocations, which include both two- and one-way translocations. The results indicate that the linear part of the curve requires precise determination, particularly since application of the technique will probably cover mainly chronically exposed subjects. An opportunity to gain direct information on translocation persistence over time was opened by obtaining repeated samples from subjects accidentally exposed to

  7. Microarray analysis of unbalanced translocation in Wolf-Hirschhorn syndrome.

    Science.gov (United States)

    Dai, Ying; Yang, Jing; Chen, Yuanyuan; Bao, Liming; Cheng, Qian

    2013-06-01

    Wolf-Hirschhorn syndrome (WHS) is caused by deletions involving chromosome region 4p16.3, which is characterized by growth delay, mild-to-severe mental retardation, hypotonia, facial dysmorphisms and shows extensive phenotypic variability include feeding difficulties, epilepsy and congenital anomalies. Variation in the size of the deletion involving chromosome region 4p16.3 may explain the clinical variation. However, previous studies indicate that duplication for another chromosome region due to an unbalanced translocation elucidate approximately 40-45% WHS patients. Therefore, we used whole genomic cytogenetics array to analyze the entire genome at a significantly higher resolution over conventional cytogenetics to characterize the exact subtelomeric aberration region of one patient with developmental delay and several facial characteristics reminiscent Wolf-Hirschhorn syndrome. Here we report that our patient had 3.7 Mb deletion at the 4p16.2 and 6.8 Mb duplication at 8p23.1 resulted from the unbalanced translocations der(4)t(4;8)(p16.2;p23.1). We confirmed that our patient with monosomy 4p16.2 which is consistent with Wolf-Hirschhorn syndrome and trisomy 8p23.1. The combination of the 4p deletion with 8p partial trisomy explains the complex phenotype presented by our patient. PMID:23782367

  8. The study of the mechanisms of the different phenotypical manifestations in patients with reciprocal translocations

    Science.gov (United States)

    Lozynskyi, Rostyslav; Lozynska, Maria

    2006-04-01

    Cytogenetical study of lymphocytes using the light microscopy could reveal a large amount of chromosomal abnormalities, which determine corresponding hereditary disorders. However, geneticists sometimes observe the cases where the same chromosomal rearrangements seen in light microscope cause quite different phenotype (from normal to abnormal) in relatives. The aim of the study was to explain the mechanisms of the different phenotype appearance in family members carrying the same reciprocal translocations. It was carried out the standard chromosome analysis in 12 families, where some relatives had reciprocal translocations. Chromosomes were differentially stained using G-method. The samples were analysed in optical microscope (x1000). Using OMIM gene map, UCSC Genome Browser, eGenome Release v2.3 and Unigene databases it was revealed transposons and transposon derivates in chromosome regions involved in translocations. We suppose that the variability of clinical manifestations in translocation-bearing patient is caused by the influence of the transposons, such as Hsmar2, Alu-elements or some others. We propose the following mechanisms of transposone action in these patients. The first may lie on recombination between the 2 specific DNA-transposon containing sites on different chromosomes resulting in balanced reciprocal translocation with no significant influence on the most genes' activity in corresponding regions. The weakening of transposase repression, which may follow in gametes, increases the transposase activity, and hereby, the probability of transposon dislocation. Dislocation can change the activity of groups of genes, because transposons often carry the regulatory sequences. This can induce multiply innate disorders in the progeny of the phenotypically healthy parents, carrying the translocation. According to the second mechanism, the reciprocal translocation is caused by recombination between 2 Alu repeats. These repeats can undergo reverse

  9. A de novo Reciprocal X; 9 Translocation in A Patient with Premature Ovarian Failure

    OpenAIRE

    Faezeh Azizi; Soraya Saleh Gargari; Mir Davood Omrani

    2013-01-01

    Premature ovarian failure (POF) causes hypergonadotrophic amenorrhea in 1-3% of females, occurring before the age of 40 among women with chromosomal rearrangements in the long arm of the X chromosome 'critical region'. In this article, we report a case of POF and primary amenorrheain a girl with a de novo reciprocal translocation between chromosomes X and 9. The proband was a 17 years old girl with a history of irregular menstruation and high level of follicle-stimulating hormone (FSH) (151 m...

  10. 普通小麦-簇毛麦T5VS·5DL易位染色体对小麦主要农艺性状、品质和白粉病抗性的遗传效应分析%The Genetic Effect of Wheat-H.villosa T5VS·5DL Translocated Chromosome on Agronomic Characteristics, Quality and Powdery Mildew Resistance of Common Wheat

    Institute of Scientific and Technical Information of China (English)

    张瑞奇; 冯祎高; 侯富; 陈树林; 别同德; 陈佩度

    2015-01-01

    Objective]The objective of this study is to understand the genetic effect of wheat-H.villosa T5VS·5DL translocated chromosome on yield traits, powdery mildew resistance,grain quality of common wheat and transmission of T5VS·5DL chromosome through male and female Gametes, and further learn more about its utilization value in wheat breeding improvement.[Method]Based on the identification of T5VS·5DL translocated chromosome by GISH and five 5VS specific molecular markers, the advanced-generation backcrossing lines with T5VS·5DL translocated chromosome and their F2, F2:3 separation populations of which recurrent parents are Yangmai 15 and Yangmai 13, respectively, were used to investigate the yield traits, powdery mildew resistance and grain quality. The backcrossing lines were planted in greenhouse and field in 2013-2014, while the separation populations were only planted in greenhouse. Also, the mixed races ofBlumeria graminis (DC.) E.O.Speer f. sp.tritici (Bgt) were used to infect the materials at seeding stage and adult plant stage.[Result]The results showed that there were no significant differences between T5VS·5DL lines and their recurrent parents in agronomic traits,including plant height,spike length, spike/spikelets, grains/spike and 1000-kernal weight which might be due to the better compensation of 5VS instead of 5DS. Compared to Yangmai15 and Yangmai13, the advanced-generation backcrossing T5VS·5DL translocation lines appeared lower in SKCS values, water solvent retention capacities and Na2CO3 solvent retention capacities, and similar in sucrose solvent retention capacities, lactic acid solvent retention capacities and protein content, which might be due to the different genotypes of softness genes located on 5VS and 5DS. Therefore, T5VS·5DL might have a positive effect on soft wheat quality. In addition, the results of powdery mildew resistance investigated at seedling stage and adult plant stage indicated that T5VS·5DL lines were susceptible at

  11. Nonrandom chromosomal changes in human malignant cells

    Energy Technology Data Exchange (ETDEWEB)

    Rowley, J D

    1977-01-01

    The role of chromosomal changes in human malignant cells has been the subject of much debate. The observation of nonrandom chromosomal changes has become well recognized in chronic myelogenous leukemia, and more recently in acute myelogenous leukemia. In the present report, data are presented on the sites of duplication of chromosome No. 1 in hematologic disorders. Trisomy for region lq25 to lq32 was observed in every one of 34 patients whose cells showed duplication of some part of chromosome No. 1. Adjacent regions lq21 to lq25, and lq32 to lqter, also were trisomic in the majority of patients. Two patients had deletions, one of lq32 to qter, and the other, of lp32 to pter. The sites of chromosomal breaks leading to trisomy differ from those involved in balanced reciprocal translocations. Some of these sites are sometimes, but not always, vulnerable in constitutional chromosomal abnormalities. The nature of the proliferative advantage conferred on myeloid cells by these chromosomal changes is unknown.

  12. Chromosome Microarray.

    Science.gov (United States)

    Anderson, Sharon

    2016-01-01

    Over the last half century, knowledge about genetics, genetic testing, and its complexity has flourished. Completion of the Human Genome Project provided a foundation upon which the accuracy of genetics, genomics, and integration of bioinformatics knowledge and testing has grown exponentially. What is lagging, however, are efforts to reach and engage nurses about this rapidly changing field. The purpose of this article is to familiarize nurses with several frequently ordered genetic tests including chromosomes and fluorescence in situ hybridization followed by a comprehensive review of chromosome microarray. It shares the complexity of microarray including how testing is performed and results analyzed. A case report demonstrates how this technology is applied in clinical practice and reveals benefits and limitations of this scientific and bioinformatics genetic technology. Clinical implications for maternal-child nurses across practice levels are discussed. PMID:27276104

  13. The study of chromosomal abnormalities and heteromorphism in couples with 2 or 3 recurrent abortions in Shahid Beheshti Hospital of Hamedan

    OpenAIRE

    Atefeh Asgari; Safieh Ghahremani; Solmaz Saeedi; Ebrahim Kamrani

    2013-01-01

    Background: Different studies show that chromosomal balance translocation in the parents can cause recurrent spontaneous abortions. Incidence of chromosomal translocation abnormalities in couples with repeated abortions is from 0% to 31%. Objective: The purpose of this research was studying the presence or absence of chromosomal abnormalities and heteromorphism in couples with recurrent abortions and also the role of this anomaly in the abortions. Materials and Methods: This study is a cross ...

  14. Topology of chromosome centromeres in human sperm nuclei with high levels of DNA damage.

    Science.gov (United States)

    Wiland, Ewa; Fraczek, Monika; Olszewska, Marta; Kurpisz, Maciej

    2016-01-01

    Several studies have shown that the 'poor' sperm DNA quality appears to be an important factor affecting male reproductive ability. In the case of sperm cells from males with the correct somatic karyotype but with deficient spermatogenesis, resulting in a high degree of sperm DNA fragmentation, we observed changes in the preferential topology of the chromosome 7, 9, 15, 18, X and Y centromeres. The changes occurred in radial localization and may have been directly linked to the sperm chromatin damage. This conclusion is mainly based on a comparison of FISH signals that were observed simultaneously in the TUNEL-positive and TUNEL-negative sperm cells. The analyzed cells originated from the same ejaculated sample and FISH was performed on the same slides, after in situ TUNEL reaction. Based on the observed changes and previous data, it appears that the sperm nucleus architecture can be disrupted by a variety of factors and has a negative influence on spermatogenesis at the same time. Often, these factors coexist (e.g. chromosomal translocations, aneuploidies, a higher DNA fragmentation, abnormal seminology), but no direct correlations between the factors were observed. PMID:27558650

  15. Chromosomal abnormalities in patients with autism spectrum disorders from Taiwan.

    Science.gov (United States)

    Liao, Hsiao-Mei; Gau, Susan Shur-Fen; Tsai, Wen-Che; Fang, Jye-Siung; Su, Ying-Cheng; Chou, Miao-Chun; Liu, Shih-Kai; Chou, Wen-Jiun; Wu, Yu-Yu; Chen, Chia-Hsiang

    2013-10-01

    Autism spectrum disorders (ASD) are childhood-onset neurodevelopmental disorders characterized by verbal communication impairments, social reciprocity deficits, and the presence of restricted interests and stereotyped behaviors. Genetic factors contribute to the incidence of ASD evidently. However, the genetic spectrum of ASD is highly heterogeneous. Chromosomal abnormalities contribute significantly to the genetic deficits of syndromic and non-syndromic ASD. In this study, we conducted karyotyping analysis in a sample of 500 patients (447 males, 53 females) with ASD from Taiwan, the largest cohort in Asia, to the best of our knowledge. We found three patients having sex chromosome aneuploidy, including two cases of 47, XXY and one case of 47, XYY. In addition, we detected a novel reciprocal chromosomal translocation between long arms of chromosomes 4 and 14, designated t(4;14)(q31.3;q24.1), in a patient with Asperger's disorder. This translocation was inherited from his unaffected father, suggesting it might not be pathogenic or it needs further hits to become pathogenic. In line with other studies, our study revealed that subjects with sex chromosomal aneuploidy are liable to neurodevelopmental disorders, including ASD, and conventional karyotyping analysis is still a useful tool in detecting chromosomal translocation in patients with ASD, given that array-based comparative genomic hybridization technology can provide better resolution in detecting copy number variations of genomic DNA. PMID:24132905

  16. Dynamics of response to asynapsis and meiotic silencing in spermatocytes from Robertsonian translocation carriers.

    Directory of Open Access Journals (Sweden)

    Anna K Naumova

    Full Text Available Failure of homologous synapsis during meiotic prophase triggers transcriptional repression. Asynapsis of the X and Y chromosomes and their consequent silencing is essential for spermatogenesis. However, asynapsis of portions of autosomes in heterozygous translocation carriers may be detrimental for meiotic progression. In fact, a wide range of phenotypic outcomes from meiotic arrest to normal spermatogenesis have been described and the causes of such a variation remain elusive. To better understand the consequences of asynapsis in male carriers of Robertsonian translocations, we focused on the dynamics of recruitment of markers of asynapsis and meiotic silencing at unsynapsed autosomal trivalents in the spermatocytes of Robertsonian translocation carrier mice. Here we report that the enrichment of breast cancer 1 (BRCA1 and histone γH2AX at unsynapsed trivalents declines during the pachytene stage of meiosis and differs from that observed in the sex body. Furthermore, histone variant H3.3S31, which associates with the sex chromosomes in metaphase I/anaphase I spermatocytes, localizes to autosomes in 12% and 31% of nuclei from carriers of one and three translocations, respectively. These data suggest that the proportion of spermatocytes with markers of meiotic silencing of unsynapsed chromatin (MSUC at trivalents depends on both, the stage of meiosis and the number of translocations. This may explain some of the variability in phenotypic outcomes associated with Robertsonian translocations. In addition our data suggest that the dynamics of response to asynapsis in Robertsonian translocations differs from the response to sex chromosomal asynapsis in the male germ line.

  17. The Meiotic Behavior of an Alien Chromosome in Triticum aestivum-Haynaldia villosa Monosomic Addition Lines

    Institute of Scientific and Technical Information of China (English)

    LI Rui-fen; LIANG Hong-xia; ZHAO Mao-lin

    2002-01-01

    By the combination of cytological analysis and using genomic in situ hybridization technique to identify an alien chromosome in wheat-Haynaldia villosa monosomic addition lines, we studied the meiotic behavior of the alien chromosome. The results indicated that the frequency of bivalent pairing was lower than the value expected in PMCs of two monosomic addition lines, the frequency of wheat chromosomes unpairing increased, and the wheat homologous chromosome pairing was interfered with by the added chromosome 6V at metaphase I. The chromosome 6V lagged in 20.3% -29.3% of PMCs, sister chromatids 6V early divided in 29.0% - 34.1% of PMCs, the single chromosome 6V in 18.2% - 26.1% of PMCs went to a pole randomly,the breakage frequency of chromosome 6V was 1.2% - 2.9%. Meanwhile, it was also found that several wheat chromosomes showed earlier division, lagging and breakage in a few PMCs. It revealed that the added chromosome 6V influenced the behavior of wheat chromosomes at anaphase. It was also found that the translocation was produced between 6V and wheat chromosomes in 1.2% of PMCs. It offered evidence for translocation between wheat and Haynaldia villosa 6V chromosomes.

  18. TFE3-Fusion Variant Analysis Defines Specific Clinicopathologic Associations Among Xp11 Translocation Cancers.

    Science.gov (United States)

    Argani, Pedram; Zhong, Minghao; Reuter, Victor E; Fallon, John T; Epstein, Jonathan I; Netto, George J; Antonescu, Cristina R

    2016-06-01

    Xp11 translocation cancers include Xp11 translocation renal cell carcinoma (RCC), Xp11 translocation perivascular epithelioid cell tumor (PEComa), and melanotic Xp11 translocation renal cancer. In Xp11 translocation cancers, oncogenic activation of TFE3 is driven by the fusion of TFE3 with a number of different gene partners; however, the impact of individual fusion variant on specific clinicopathologic features of Xp11 translocation cancers has not been well defined. In this study, we analyze 60 Xp11 translocation cancers by fluorescence in situ hybridization using custom bacterial artificial chromosome probes to establish their TFE3 fusion gene partner. In 5 cases RNA sequencing was also used to further characterize the fusion transcripts. The 60 Xp11 translocation cancers included 47 Xp11 translocation RCC, 8 Xp11 translocation PEComas, and 5 melanotic Xp11 translocation renal cancers. A fusion partner was identified in 53/60 (88%) cases, including 18 SFPQ (PSF), 16 PRCC, 12 ASPSCR1 (ASPL), 6 NONO, and 1 DVL2. We provide the first morphologic description of the NONO-TFE3 RCC, which frequently demonstrates subnuclear vacuoles leading to distinctive suprabasal nuclear palisading. Similar subnuclear vacuolization was also characteristic of SFPQ-TFE3 RCC, creating overlapping features with clear cell papillary RCC. We also describe the first RCC with a DVL2-TFE3 gene fusion, in addition to an extrarenal pigmented PEComa with a NONO-TFE3 gene fusion. Furthermore, among neoplasms with the SFPQ-TFE3, NONO-TFE3, DVL2-TFE3, and ASPL-TFE3 gene fusions, the RCCs are almost always PAX8 positive, cathepsin K negative by immunohistochemistry, whereas the mesenchymal counterparts (Xp11 translocation PEComas, melanotic Xp11 translocation renal cancers, and alveolar soft part sarcoma) are PAX8 negative, cathepsin K positive. These findings support the concept that despite an identical gene fusion, the RCCs are distinct from the corresponding mesenchymal neoplasms, perhaps due to

  19. Usefulness of long-distance inverse polymerase chain reaction for molecular detection of 14q32 translocation in a clinical setting.

    OpenAIRE

    Ishizaki, Akiko; Sugahara, Kazuyuki; Tsuruda, Kazuto; Hasegawa, Hiroo; Yanagihara, Katsunori; Tsukasaki, Kunihiro; Yamada, Yasuaki; Kamihira, Shimeru

    2008-01-01

    All mature B-cell leukaemias and lymphomas have a clonal Ig gene recombination, and half of them have a reciprocal chromosomal translocation involving the 14q32 locus. The 14q32 translocation partners are variable, such as BCL-2, BCL-1 and BCL-6, thus accounting for the difficulty in molecular detection by the current genomic polymerase chain reaction (PCR) method. To identify B-cell clones efficiently with an Ig gene rearrangement and reciprocal inter-chromosomal translocation, we verified t...

  20. The fragile Y hypothesis: Y chromosome aneuploidy as a selective pressure in sex chromosome and meiotic mechanism evolution.

    Science.gov (United States)

    Blackmon, Heath; Demuth, Jeffery P

    2015-09-01

    Loss of the Y-chromosome is a common feature of species with chromosomal sex determination. However, our understanding of why some lineages frequently lose Y-chromosomes while others do not is limited. The fragile Y hypothesis proposes that in species with chiasmatic meiosis the rate of Y-chromosome aneuploidy and the size of the recombining region have a negative correlation. The fragile Y hypothesis provides a number of novel insights not possible under traditional models. Specifically, increased rates of Y aneuploidy may impose positive selection for (i) gene movement off the Y; (ii) translocations and fusions which expand the recombining region; and (iii) alternative meiotic segregation mechanisms (achiasmatic or asynaptic). These insights as well as existing evidence for the frequency of Y-chromosome aneuploidy raise doubt about the prospects for long-term retention of the human Y-chromosome despite recent evidence for stable gene content in older non-recombining regions. PMID:26200104

  1. Formation of new chromosomes as a virulence mechanism in yeast Candida glabrata

    DEFF Research Database (Denmark)

    Poláková, S.; Blume, C.; Zárate, J. A.;

    2009-01-01

    chromosomes were translocations of chromosomal arms. However, also larger segmental duplications were frequent and occasionally we observed novel chromosomes. Apparently, this yeast can generate a new chromosome by duplication of chromosome segments carrying a centromere and subsequently adding novel......In eukaryotes, the number and rough organization of chromosomes is well preserved within isolates of the same species. Novel chromosomes and loss of chromosomes are infrequent and usually associated with pathological events. Here, we analyzed 40 pathogenic isolates of a haploid and asexual yeast......, Candida glabrata, for their genome structure and stability. This organism has recently become the second most prevalent yeast pathogen in humans. Although the gene sequences were well conserved among different strains, their chromosome structures differed drastically. The most frequent events reshaping...

  2. Dose effect relationship for chromosome aberrations induced in male mammalian germ cells

    International Nuclear Information System (INIS)

    The genetic effects of radiations on male germ cells and more specifically to type A spermatogonia which constitute the permanent population of the testes, were discussed. As exposure of spermatogonia does not cause a detectable increase in frequency of sex-chromosome loss only the problen of the induction of chromosome rearrangements, was studied. It was estimated that 5 rem of γ-irradiation given at a low dose-rate to spermagonia will produce 39 balanced translocations per million gametes and 78 unbalanced ones. Doubling the male rates will give 78 balanced translocations and 156 unbalanced translocations as the total estimate in a population of 1 million exposed to 5R of γ-irradiation at low dose rate. It must be pointed out that among normal humans the most common translocations are of Robertsonian type whereas the radiation induced translocation are of the reciprocal typ

  3. Effect of smoking on the chromosome aberrations induced by environmental mutagens

    International Nuclear Information System (INIS)

    Chromosome aberration frequencies have increasingly been used for the study of various occupational and environmental exposures. Factors related to environmental in mutagens influence translocation yield. Smoking has impact on the translocation yield and is the most influential factor among the environmental mutagens to increase cancer incidence. In order to know how environmental mutagens affect the induction of translocations caused by smoking we analyzed translocations in the lymphocytes of smokers and nonsmokers in a large city, Beijing, a high natural background radiation area (HBRA) and in its control area (CA), remote villages in the south of China. The results of our analyses are reviewed in this presentation

  4. Detection of radiation-induced translocations in A-bomb survivors by fluorescence in situ hybridization (FISH) method

    International Nuclear Information System (INIS)

    The present paper describes the results of a collaborative study by RERF, LINL and UCSF on an analysis of the utility of fluorescence in situ hybridization (FISH) with whole-chromosome probes (chromosomes 1, 2 and 4) for measurement of the frequencies of chromosomal translocations that have persisted for decades in the peripheral blood lymphocytes of atomic bomb survivors. In this study, attempts have been made to investigate whether the translocation frequencies measured using FISH agree well with the translocation frequencies measured using both G-banding and conventional Giemsa staining analyses, the latter two techniques of which have been accepted as standard cytogenetic procedures. Sample subjects under study include 20 Hiroshima A-bomb survivors, consisting of 2 distally exposed survivors in the 0-Gy group, and 18 proximally exposed survivors with estimated DS86 kerma ranging from 0.5 to 5.0 Gy. Our preliminary results of measurement of translocations using FISH on A-bomb survivors have indicated that the FISH technique is a useful biological assay system for rapid and accurate detection of induced translocations, and thus for quantification of previous acute exposures to ionizing radiation. Translocation analysis using FISH can also be utilized to assess the level of acute radiation exposure independent of time between exposure and cytogenetic analysis. (author)

  5. Utilization of fluorescence in situ hybridization (FISH) technique for detection of radiation-induced translocations in atomic bomb survivors

    International Nuclear Information System (INIS)

    This paper summarizes recent progress in a collaborative study by Radiation Effects Research Foundation, Hiroshima, Lawrence Livermore National Laboratory and university of California, San Francisco, to investigate the utility of fluorescence in situ hybridization (FISH) with whole-chromosome probes (chromosomes 1, 2 and 4) for measurement of the frequencies of chromosomal translocations that have persisted for decades in the peripheral blood lymphocytes of A-bomb survivors. The frequencies of radiation-induced translocations measured between FISH and G-band/conventional stains for 33 Hiroshima a-bomb survivors (7 distally and 26 proximally exposed survivors with estimated DS86 bone marrow dose ranging from 0-3.0 Sv). Findings showed that, except for a few discrepant cases, translocation frequencies from the same survivors agree reasonably well between FISH and G-banding, provides the assumption that the number of breaks involved in the radiation-induced translocations increases linearly with chromosomal dna content. Present findings have validated that the FISH technique is a useful biological assay system for rapid and accurate detection of persistent translocations for quantification of previous exposures to ionizing radiation. (author). 9 refs

  6. A cohort of balanced reciprocal translocations associated with dyslexia: identification of two putative candidate genes at DYX1

    DEFF Research Database (Denmark)

    Buonincontri, Roberta; Bache, Iben; Silahtaroglu, Asli;

    2011-01-01

    Dyslexia is one of the most common neurodevelopmental disorders where likely many genes are involved in the pathogenesis. So far six candidate dyslexia genes have been proposed, and two of these were identified by rare chromosomal translocations in affected individuals. By systematic re......-examination of all translocation carriers in Denmark, we have identified 16 different translocations associated with dyslexia. In four families, where the translocation co-segregated with the phenotype, one of the breakpoints concurred (at the cytogenetic level) with either a known dyslexia linkage region--at 15......q21 (DYX1), 2p13 (DYX3) and 1p36 (DYX8)--or an unpublished linkage region at 19q13. As a first exploitation of this unique cohort, we identify three novel candidate dyslexia genes, ZNF280D and TCF12 at 15q21, and PDE7B at 6q23.3, by molecular mapping of the familial translocation with the 15q21...

  7. Reciprocal translocation frequency in irradiated sensitive and resistant human tumor cells in correlation with clonogenic in vitro cell survival: a possibility of tumor radiosensitivity prediction?

    International Nuclear Information System (INIS)

    We have investigated the yields of radiation-induced translocation in several human tumor cell lines and in normal diploid human fibroblasts by fluorescence in situ hybridization. The translocation yields were determined with respect to chromosome no. 1 in all cell lines investigated, and moreover in chromosomes nos. 2, 4 and 9 in fibroblasts and one tumor cell line. The chromosomes were 'painted' with fluorescent whole chromosome-hybridization probes. The clonogenic survival of the studied cell lines was determined by standard colony-formation assay. We observed a higher frequency of reciprocal translocations in the radiosensitive cells MCF-7 and MDA-MB-436 as compared with the radioresistant cells CaSki and normal skin fibroblasts. Thus, the results suggest a possibility to predict the intrinsic tumor radiosensitivity on the basis of reciprocal translocation yield determined in cells irradiated in vitro. The correlation was observed in spite of the trisomy no. 1 which occurred in all three investigated tumor cell lines. On the other hand, the results obtained with different chromosomes in MCF-7 cells suggest that only chromosomes with relatively low 'spontaneous' translocation yields are suitable for this kind of analysis

  8. RCSD1-ABL1 Translocation Associated with IKZF1 Gene Deletion in B-Cell Acute Lymphoblastic Leukemia

    Directory of Open Access Journals (Sweden)

    Shawana Kamran

    2015-01-01

    Full Text Available The RCSD1 gene has recently been identified as a novel gene fusion partner of the ABL1 gene in cases of B-cell Acute Lymphoblastic Leukemia (B-ALL. The RCSD1 gene is located at 1q23 and ABL1 is located at 9q34, so that the RCSD1-ABL1 fusion typically arises through a rare reciprocal translocation t(1;9(q23;q34. Only a small number of RCSD1-ABL1 positive cases of B-ALL have been described in the literature, and the full spectrum of clinical, morphological, immunophenotypic, and molecular features associated with this genetic abnormality has not been defined. We describe extensive genetic characterization of a case of B-ALL with RCSD1-ABL1 fusion, by using conventional cytogenetic analysis, Fluorescence In Situ Hybridization (FISH studies, and Chromosomal Microarray Analysis (CMA. The use of CMA resulted in detection of an approximately 70 kb deletion at 7p12.2, which caused a disruption of the IKZF1 gene. Deletions and mutations of IKZF1 are recurring abnormalities in B-ALL and are associated with a poor prognosis. Our findings highlight the association of the deletion of IKZF1 gene with the t(1;9(q24;q34 and illustrate the importance of comprehensive cytogenetic and molecular evaluation for accurate prediction of prognosis in patients with B-cell ALL.

  9. Cold-inhibited phloem translocation in sugar beet

    International Nuclear Information System (INIS)

    Experimental studies were undertaken on a simplified single source leaf-single sink leaf, or single source leaf-double sink leaf sugar beet system to investigate the responsive nature of the long-distance phloem translocation system to localized cooling perturbations on the source leaf petiole. Experiments were performed by using a steady state [14C]-labelling system for the source leaf, and translocation into the sink leaf (leaves) was monitored with a Geiger-Mueller system. A specially designed Peltier apparatus enabled cooling of the source petiole to 10C (or other desired temperatures) at various positions on the petiole, over different lengths, and at different rates of cooling. Initial experiment were designed to test the predictions of a mathematical recovery model of translocation inhibited by cold. The results did not support the mathematical model, but did suggest that vascular anastomoses may be involved in the recovery response. Selective petiolar incision/excision experiments showed that anastomoses were capable of re-establishing translocation following a disruption of flow. Studies with two monitored sink levels suggested that the inhibition to slow-coolings was not due to reduced translocation through the cooled source petiole region, but rather, was due to a repartitioning of flow among the terminal sinks (sink leaves and hypocotyl/crown region above the heat-girdled root). This repartitioning occurred via a redirection of flow through the vascular connections in the crown region of the plant, and appeared to be promoted by rapid, physical signals originating from the cooled region of the petiole

  10. Inadequate clearance of translocated bacterial products in HIV-infected humanized mice.

    Directory of Open Access Journals (Sweden)

    Ursula Hofer

    2010-04-01

    Full Text Available Bacterial translocation from the gut and subsequent immune activation are hallmarks of HIV infection and are thought to determine disease progression. Intestinal barrier integrity is impaired early in acute retroviral infection, but levels of plasma lipopolysaccharide (LPS, a marker of bacterial translocation, increase only later. We examined humanized mice infected with HIV to determine if disruption of the intestinal barrier alone is responsible for elevated levels of LPS and if bacterial translocation increases immune activation. Treating uninfected mice with dextran sodium sulfate (DSS induced bacterial translocation, but did not result in elevated plasma LPS levels. DSS-induced translocation provoked LPS elevation only when phagocytic cells were depleted with clodronate liposomes (clodrolip. Macrophages of DSS-treated, HIV-negative mice phagocytosed more LPS ex vivo than those of control mice. In HIV-infected mice, however, LPS phagocytosis was insufficient to clear the translocated LPS. These conditions allowed higher levels of plasma LPS and CD8+ cell activation, which were associated with lower CD4+/CD8+ cell ratios and higher viral loads. LPS levels reflect both intestinal barrier and LPS clearance. Macrophages are essential in controlling systemic bacterial translocation, and this function might be hindered in chronic HIV infection.

  11. Chromosome anomalies in mouse oocytes after irradiation

    International Nuclear Information System (INIS)

    We investigated the cytogenetic effects of X-rays on unfertilized mouse oocytes. NMRI females received an irradiation with 0, 22.2, 66.6, 200, and 600 R during the preovulatory phase 3 hrs after HCG (human chorionic gonadotrophin). This is a stage during oogenesis in which the oocytes pass from late dictyotene to diakinesis. Chromosome anlysis was per formed after ovulation at metaphase II. From these experiments we can draw the following conclusions: X-rays induced during the preovulatory phase a high number of chromosome anomalies. Among these, structural anomalies prevail. 7 out of 144 ovulated oocytes in matched controls carried such an abnormality, whereas after irradiation we observed with 22.2, 66.6, 200, and 600 R, 11 out of 72, 34 out of 108, 89 out of 102, and 122 out of 124, respectively. Irradiation seems also to affect the chromosome segregation during the 1. meiotic division, as we observed after 22.2, 66.6 and 200 R a total of 6 oocytes out of 204 with a supernummary chromosome. In controls, however, no hyperploidy was found in 143 ova. This increase, however, was not significant. Chromosome anomalies, e.g. breaks and deletions that go back to a one-break event increased linearly with increasing dose. Exchanges, however, going back to two-break events fittet best to the linear-quadratic dose-response model. The dose of 600 R seems to represent a kind of borderline in this experiment, because nearly all (122 out 124) carried at least one structural chromosome anomaly. It is also this dose after which the highest frequency of reciprocal translocations was observed in a humpshaped slope in spermatocytes after irradiation of spermatogonia (Preston and Brewen, 1973). With an increasing dosage up to 1,200 R the frequency of translocations decrease again. The elimination of cells, crossing this borderline, might be due to genetic or non-genetic effects. (orig./GSE)

  12. Evaluation of RT-PCR to Detect Translocations in Children Diagnosed with Acute Lymphoblastic Leukemia

    Directory of Open Access Journals (Sweden)

    H Galehdari

    2009-12-01

    Full Text Available "nBackground: Acute lymphoblastic leukemia (ALL is the most common subtype of childhood cancer. Chromosomal ab­normality, specially the replacement of chromosomal material is one of the main reasons in generating leukemia, wherein the kind of translocation play a key role in managing the remedy. The goal of the present study was to develop a reliable, rapid, and cost effective method to detect translocations, which are the main sources of leukemia."nMethods: Twenty seven samples were collected from leukemia affected individuals that were referred to the Shafa Hospital in Ahwaz from summer 2007 to spring2008. Total RNA was extracted from one milliliter whole blood, and then reversely tran­scribed using reverse transcriptase. Finally, multiplex RT-PCR was performed for each sample."nResults: Cell lines (K562, Jurkat E 6.1 that are harboring known translocations were used as positive control, with addi­tional internal control to prove false negative results. Translocations t (9; 22, t (12; 21, t (1; 19 and t (4; 11 were ob­served in patients that have been diagnosed with the ALL, respectively. No Translocation has been seen in individuals suf­fering lymphoma."nConclusion: Multiplex RT-PCR assay is an effective, sensitive, accurate, and cost-effective diagnostic tool, which can im­prove the ability to accurately and rapidly risk-stratify patients that were diagnosed with acute lymphoblastic leukemia.

  13. The technique of chromosome painting and its application in radiation biology

    International Nuclear Information System (INIS)

    The analysis of chromosomal aberrations is one of the most important methods of investigating the effects of ionizing radiation on living cells. For a long time only structural unstable-type aberrations, like dicentrics, could be identified in uniformly stained chromosomes. The introduction of chromosome banding in the seventies allowed for the first time to analyze stable-type aberrations, such as translocations, however, the technical difficulties associated with this technique prevented its wide application in radiation biology. At the end of the eighties, the technique of chromosome painting was invented. With its help it is possible to hybridize 'in situ' fluorochrome-labelled DNA of individual chromosomes, so that any inter chromosomal rearrangements are easily detectable as color discontinuities. The analysis of radiation-induced translocations in painted chromosomes is presently being introduced in biodosimetry of human peripheral lymphocytes. The advantage of this system lies in the fact that, unlike unstable-type aberrations, the frequency of translocations in a proliferating cell population remains constant with time. This could allow a precise, retrospective estimation of the dose applied a long after exposure to radiation. Chromosome painting has also been used to investigate the mechanisms underlying the formation of radiation-induced chromosomal aberrations, and may play a role in estimation of radiosensitivity of tumors prior to radiotherapy. (author). 23 refs, 3 figs

  14. Chromosomal abnormalities in couples with repeated fetal loss: An Indian retrospective study

    Directory of Open Access Journals (Sweden)

    Frenny J Sheth

    2013-01-01

    Full Text Available Background: Recurrent pregnancy loss is a common occurrence and a matter of concern for couples planning the pregnancy. Chromosomal abnormalities, mainly balanced rearrangements, are common in couples with repeated miscarriages. Purpose: The purpose of this study is to evaluate the contribution of chromosomal anomalies causing repeated spontaneous miscarriages and provide detailed characterization of a few structurally altered chromosomes. Materials and Methods: A retrospective cytogenetic study was carried out on 4859 individuals having a history of recurrent miscarriages. The cases were analyzed using G-banding and fluorescence in situ hybridization wherever necessary. Results: Chromosomal rearrangements were found in 170 individuals (3.5%. Translocations were seen in 72 (42.35% cases. Of these, reciprocal translocations constituted 42 (24.70% cases while Robertsonian translocations were detected in 30 (17.64% cases. 7 (4.11% cases were mosaic, 8 (4.70% had small supernumerary marker chromosomes and 1 (0.6% had an interstitial microdeletion. Nearly, 78 (1.61% cases with heteromorphic variants were seen of which inversion of Y chromosome (57.70% and chromosome 9 pericentromeric variants (32.05% were predominantly involved. Conclusions: Chromosomal analysis is an important etiological investigation in couples with repeated miscarriages. Characterization of variants/marker chromosome enable calculation of a more precise recurrent risk in a subsequent pregnancy thereby facilitating genetic counseling and deciding further reproductive options.

  15. Partial trisomy 11q involving chromosome 1 detected by fluorescence in situ hybridization

    Energy Technology Data Exchange (ETDEWEB)

    McCorquodale, M.; Bereziouk, O.; McCorquodale, D.J. [Univ. of Illinois College of Medicine, Chicago, IL (United States)] [and others

    1994-09-01

    Partial trisomy 11q was detected in an infant delivered 3-4 weeks prematurely. The phenotype included slanted palpebral fissures, high arched palate, developmental delay, microcephaly, and cardiac defects, all of which occur in the majority of cases with this syndrome. Other features included a column-shaped skull, preauricular pit, single palmar crease, short, broad great toes, flat occiput, unilateral kidney agenesis, and strabismus. Chromosomes obtained from peripheral blood cells revealed the presence of extra material on the long arm of chromosome 1. The G-banding pattern of this extra material indicated that it might be derived from chromosome 1 or 11. Chromosomal {open_quotes}paints{close_quotes} showed that it was not chromosome 1 material, but was chromosome 11 material extending from band q21 to qter. Partial trisomy 11q arising from translocation of the 11q material to chromosome 2, 3, 4, 5, 6, 9, 10, 13, 17, 21, 22, and X has been reported previously, whereas translocation to chromosome 1 has not. The chromosome to which the 11q material is translocated does not alter the most frequent features of the partial trisomy 11q syndrome, but may influence other less common features.

  16. Roles of the Y chromosome genes in human cancers

    Directory of Open Access Journals (Sweden)

    Tatsuo Kido

    2015-06-01

    Full Text Available Male and female differ genetically by their respective sex chromosome composition, that is, XY as male and XX as female. Although both X and Y chromosomes evolved from the same ancestor pair of autosomes, the Y chromosome harbors male-specific genes, which play pivotal roles in male sex determination, germ cell differentiation, and masculinization of various tissues. Deletions or translocation of the sex-determining gene, SRY, from the Y chromosome causes disorders of sex development (previously termed as an intersex condition with dysgenic gonads. Failure of gonadal development results not only in infertility, but also in increased risks of germ cell tumor (GCT, such as gonadoblastoma and various types of testicular GCT. Recent studies demonstrate that either loss of Y chromosome or ectopic expression of Y chromosome genes is closely associated with various male-biased diseases, including selected somatic cancers. These observations suggest that the Y-linked genes are involved in male health and diseases in more frequently than expected. Although only a small number of protein-coding genes are present in the male-specific region of Y chromosome, the impacts of Y chromosome genes on human diseases are still largely unknown, due to lack of in vivo models and differences between the Y chromosomes of human and rodents. In this review, we highlight the involvement of selected Y chromosome genes in cancer development in men.

  17. Array painting: a protocol for the rapid analysis of aberrant chromosomes using DNA microarrays

    Science.gov (United States)

    Gribble, Susan M; Ng, Bee Ling; Prigmore, Elena; Fitzgerald, Tomas; Carter, Nigel P

    2012-01-01

    Aarray painting is a technique that uses microarray technology to rapidly map chromosome translocation breakpoints. previous methods to map translocation breakpoints have used fluorescence in situ hybridization (FIsH) and have consequently been labor-intensive, time-consuming and restricted to the low breakpoint resolution imposed by the use of metaphase chromosomes. array painting combines the isolation of derivative chromosomes (chromosomes with translocations) and high-resolution microarray analysis to refine the genomic location of translocation breakpoints in a single experiment. In this protocol, we describe array painting by isolation of derivative chromosomes using a MoFlo flow sorter, amplification of these derivatives using whole-genome amplification and hybridization onto commercially available oligonucleotide microarrays. although the sorting of derivative chromosomes is a specialized procedure requiring sophisticated equipment, the amplification, labeling and hybridization of Dna is straightforward, robust and can be completed within 1 week. the protocol described produces good quality data; however, array painting is equally achievable using any combination of the available alternative methodologies for chromosome isolation, amplification and hybridization. PMID:19893508

  18. Cloning and disruption of Ustilago maydis genes.

    OpenAIRE

    Fotheringham, S.; Holloman, W K

    1989-01-01

    We have demonstrated that genes from Ustilago maydis can be cloned by direct complementation of mutants through the use of genomic libraries made in a high-frequency transformation vector. We isolated a gene involved in amino acid biosynthesis as an illustrative example and showed that integrative and one-step disruption methods can be used to create null mutations in the chromosomal copy of the gene by homologous recombination. The results of this investigation make it clear that one-step ge...

  19. High-resolution mapping of the [gamma]-aminobutyric acid receptor subunit [beta]3 and [alpha]5 gene cluster on chromosome 15q11-q13, and localization of breakpoints in two Angelman syndrome patients

    Energy Technology Data Exchange (ETDEWEB)

    Sinnett, D.; Wagstaff, J.; Woolf, E. (Children' s Hospital, Boston, MA (United States) Harvard Medical School, Boston, MA (United States)); Glatt, K. (Children' s Hospital, Boston, MA (United States)); Kirkness, E.J. (National Inst. of Alcohol Abuse and Alcoholism, Rockville, MD (United States))Lalande, M. (Children' s Hospital, Boston, MA (United States) Harvard Medical School, Boston, MA (United States) Howard Hughes Medical Inst., Boston, MA (United States))

    1993-06-01

    The [gamma]-aminobutyric acid (GABA[sub A]) receptors are a family of ligand-gated chloride channels constituting the major inhibitory neurotransmitter receptors in the nervous system. In order to determine the genomic organization of the GABA[sub A] receptor [beta]3 subunit gene (GABRB3) and [alpha]5 subunit gene (GABRA5) in chromosome 15q11-q13, the authors have constructed a high-resolution physical map using the combined techniques of field-inversion gel electrophoresis and phage genomic library screening. This map, which covers nearly 1.0 Mb, shows that GABRB3 and GABRA5 are separated by less than 100 kb and are arranged in a head-to-head configuration. GABRB3 encompasses approximately 250 kb, while GABRA5 is contained within 70 kb. This difference in size is due in large part to an intron of 150 kb within GABRB3. The authors have also identified seven putative CpG islands within a 600-kb interval. Chromosomal rearrangement breakpoints -- in one Angelman syndrome (AS) patient with an unbalanced translocation and in another patient with a submicroscopic deletion -- are located within the large GABRB3 intron. These findings will facilitate chromosomal walking strategies for cloning the regions disrupted by the DNA rearrangements in these AS patients and will be valuable for mapping new genes to the AS chromosomal region. 64 refs., 6 figs., 2 tabs.

  20. Fast, DNA-sequence independent translocation by FtsK in a single-molecule experiment

    OpenAIRE

    Saleh, Omar A; Pérals, Corine; Barre, François-Xavier; Allemand, Jean-François

    2004-01-01

    Escherichia coli FtsK is an essential cell division protein, which is thought to pump chromosomal DNA through the closing septum in an oriented manner by following DNA sequence polarity. Here, we perform single-molecule measurements of translocation by FtsK50C, a derivative that functions as a DNA translocase in vitro. FtsK50C translocation follows Michaelis–Menten kinetics, with a maximum speed of ∼6.7 kbp/s. We present results on the effect of applied force on the speed, distance translocat...

  1. The effects of exposure to different clastogens on the pattern of chromosomal aberrations detected by FISH whole chromosome painting in occupationally exposed individuals

    Energy Technology Data Exchange (ETDEWEB)

    Beskid, O. [Institute of Experimental Medicine AS CR and Health Institute of Central Bohemia, Videnska 1083, 142 20 Prague 4 (Czech Republic); Dusek, Z. [Institute of Experimental Medicine AS CR and Health Institute of Central Bohemia, Videnska 1083, 142 20 Prague 4 (Czech Republic); Solansky, I. [Institute of Experimental Medicine AS CR and Health Institute of Central Bohemia, Videnska 1083, 142 20 Prague 4 (Czech Republic); Sram, R.J. [Institute of Experimental Medicine AS CR and Health Institute of Central Bohemia, Videnska 1083, 142 20 Prague 4 (Czech Republic)]. E-mail: sram@biomed.cas.cz

    2006-02-22

    The pattern of chromosomal aberrations (CA) was studied by fluorescence in situ hybridization (FISH) technique (whole chromosomes 1 and 4 painting) in workers occupationally exposed to any of the four following conditions: acrylonitrile (ACN), ethyl benzene (EB), carcinogenic polycyclic aromatic hydrocarbons (c-PAHs), and irradiation in nuclear power plants (NPP), respectively. Decrease in the relative frequency of translocations was observed in EB group, and an increase in reciprocal translocations in ACN and NPP-exposed groups. An increase in a relative number of insertions was registered under all four conditions (significant at ACN, EB, c-PAHs, quasisignificant at NPP-exposed groups). Significant differences in the percentage of lymphocytes with aberrations on chromosome 1 (58.8 {+-} 32.7%, versus 73.8 {+-} 33.6% in the controls, P < 0.05), and chromosome 4 (47.0 {+-} 34.1%, versus 29.4 {+-} 32.2%, P < 0.01) were found in workers exposed to ACN. Similarly, a decrease in the proportion of cells with aberration on chromosome 1 (61.0 {+-} 24.0%, versus 73.8 {+-} 33.6%, P < 0.05) and an increase on chromosome 4 (45.6 {+-} 24.6%, versus 29.4 {+-} 32.2%, P < 0.05) were observed in workers exposed to EB. Frequency of aberrant cells (%AB.C.) as well as genomic frequency of translocations (F {sub G}/100) increased with age (P < 0.001). Aging also increased the percentage of translocations and reciprocal translocations (P < 0.05), but decreased the relative number of acentric fragments (P < 0.01). Smoking led to significantly increased F {sub G}/100 (P < 0.05), but did not affect the pattern of chromosomal aberrations. Our results seem to indicate that different carcinogens may induce a different pattern of chromosomal aberrations.

  2. Correlation of chromosome patterns in human leukemic cells with exposure to chemicals and/or radiation. Comprehensive progress report, July 1991--June 1992

    Energy Technology Data Exchange (ETDEWEB)

    Rowley, J.D.

    1992-06-01

    This project seeks to defining the chromosome segments associated with radiation induced leukemogenesis (treatment-related acute myeloid leukemia, or t-AML). Towards these goals genetic analysis of human chromosomes 5 and 7 continues to investigate correlation of treatment with balanced and unbalanced chromosomal translocations. Progress is being made in cloning the breakpoints in balanced translocations in t-AML, that is to clone the t(9;11) and t(11;19) breakpoints, to clone the t(3;21)(q26;q22) breakpoints and to determine the relationship of these translocations to prior exposure to topoisomerase II inhibitors. 11 figs. 3 figs.

  3. Radiation-induced chromosome breakages in bread wheat (Triticum aestivum L.)

    International Nuclear Information System (INIS)

    Meiosis and pollen fertility were studied in the M2 generation in four varieties of hexaploid wheat. Meiosis was characterized by the formation of interchange configurations, such as rings and chains of four chromosomes in several cells. Chromosomal aberrations showed linear relationship with gamma irradiation; 45 kR dose induced the highest chromosomal abnormalities. Most multivalents were interchange rings of four chromosomes. Translocations involving two pairs of homologous or nonhomologous chromosomes seemed to be higher in frequency than those involving more than two pairs of chromosomes. Anaphase abnormalities, such as laggards, bridges and fragments and unequal segregation of chromosomes, were frequently observed. Pollen fertility was considerably reduced in the M2 plants arising form the treatments of higher doses of gamma rays because of the induced chromosome interchanges. (author)

  4. Sonic hedgehog functions upstream of disrupted-in-schizophrenia 1 (disc1): implications for mental illness.

    Science.gov (United States)

    Boyd, Penelope J; Cunliffe, Vincent T; Roy, Sudipto; Wood, Jonathan D

    2015-01-01

    DISRUPTED-IN-SCHIZOPHRENIA (DISC1) has been one of the most intensively studied genetic risk factors for mental illness since it was discovered through positional mapping of a translocation breakpoint in a large Scottish family where a balanced chromosomal translocation was found to segregate with schizophrenia and affective disorders. While the evidence for it being central to disease pathogenesis in the original Scottish family is compelling, recent genome-wide association studies have not found evidence for common variants at the DISC1 locus being associated with schizophrenia in the wider population. It may therefore be the case that DISC1 provides an indication of biological pathways that are central to mental health issues and functional studies have shown that it functions in multiple signalling pathways. However, there is little information regarding factors that function upstream of DISC1 to regulate its expression and function. We herein demonstrate that Sonic hedgehog (Shh) signalling promotes expression of disc1 in the zebrafish brain. Expression of disc1 is lost in smoothened mutants that have a complete loss of Shh signal transduction, and elevated in patched mutants which have constitutive activation of Shh signalling. We previously demonstrated that disc1 knockdown has a dramatic effect on the specification of oligodendrocyte precursor cells (OPC) in the hindbrain and Shh signalling is known to be essential for the specification of these cells. We show that disc1 is prominently expressed in olig2-positive midline progenitor cells that are absent in smo mutants, while cyclopamine treatment blocks disc1 expression in these cells and mimics the effect of disc1 knock down on OPC specification. Various features of a number of psychiatric conditions could potentially arise through aberrant Hedgehog signalling. We therefore suggest that altered Shh signalling may be an important neurodevelopmental factor in the pathobiology of mental illness. PMID:26405049

  5. Sonic hedgehog functions upstream of disrupted-in-schizophrenia 1 (disc1: implications for mental illness

    Directory of Open Access Journals (Sweden)

    Penelope J. Boyd

    2015-10-01

    Full Text Available DISRUPTED-IN-SCHIZOPHRENIA (DISC1 has been one of the most intensively studied genetic risk factors for mental illness since it was discovered through positional mapping of a translocation breakpoint in a large Scottish family where a balanced chromosomal translocation was found to segregate with schizophrenia and affective disorders. While the evidence for it being central to disease pathogenesis in the original Scottish family is compelling, recent genome-wide association studies have not found evidence for common variants at the DISC1 locus being associated with schizophrenia in the wider population. It may therefore be the case that DISC1 provides an indication of biological pathways that are central to mental health issues and functional studies have shown that it functions in multiple signalling pathways. However, there is little information regarding factors that function upstream of DISC1 to regulate its expression and function. We herein demonstrate that Sonic hedgehog (Shh signalling promotes expression of disc1 in the zebrafish brain. Expression of disc1 is lost in smoothened mutants that have a complete loss of Shh signal transduction, and elevated in patched mutants which have constitutive activation of Shh signalling. We previously demonstrated that disc1 knockdown has a dramatic effect on the specification of oligodendrocyte precursor cells (OPC in the hindbrain and Shh signalling is known to be essential for the specification of these cells. We show that disc1 is prominently expressed in olig2-positive midline progenitor cells that are absent in smo mutants, while cyclopamine treatment blocks disc1 expression in these cells and mimics the effect of disc1 knock down on OPC specification. Various features of a number of psychiatric conditions could potentially arise through aberrant Hedgehog signalling. We therefore suggest that altered Shh signalling may be an important neurodevelopmental factor in the pathobiology of mental

  6. Two cases of partial trisomy 8p and partial monosomy 21q in a family with a reciprocal translocation (8;21)(p21.1;q22.3).

    OpenAIRE

    Plomp, A.S.; Engelen, J.J.; Albrechts, J C; de Die-Smulders, C E; Hamers, A J

    1998-01-01

    We report on two mentally retarded adults with an unbalanced karyotype resulting from a familial balanced translocation between chromosomes 8 and 21, t(8;21)(p21.1;q22.3). This translocation has not been reported before. Both patients had partial trisomy 8p and partial monosomy 21q. Fluorescence in situ hybridisation (FISH) was used to determine the chromosomal breakpoints more precisely. The first patient showed mild mental retardation and facial dysmorphism, slightly resembling the earlier ...

  7. Covalently dimerized SecA is functional in protein translocation.

    Science.gov (United States)

    de Keyzer, Jeanine; van der Sluis, Eli O; Spelbrink, Robin E J; Nijstad, Niels; de Kruijff, Ben; Nouwen, Nico; van der Does, Chris; Driessen, Arnold J M

    2005-10-21

    The ATPase SecA provides the driving force for the transport of secretory proteins across the cytoplasmic membrane of Escherichia coli. SecA exists as a dimer in solution, but the exact oligomeric state of SecA during membrane binding and preprotein translocation is a topic of debate. To study the requirements of oligomeric changes in SecA during protein translocation, a non-dissociable SecA dimer was formed by oxidation of the carboxyl-terminal cysteines. The cross-linked SecA dimer interacts with the SecYEG complex with a similar stoichiometry as non-cross-linked SecA. Cross-linking reversibly disrupts the SecB binding site on SecA. However, in the absence of SecB, the activity of the disulfide-bonded SecA dimer is indistinguishable from wild-type SecA. Moreover, SecYEG binding stabilizes a cold sodium dodecylsulfate-resistant dimeric state of SecA. The results demonstrate that dissociation of the SecA dimer is not an essential feature of the protein translocation reaction. PMID:16115882

  8. DNA Translocation through Graphene Nanopores

    CERN Document Server

    Schneider, Grégory F; Calado, Victor E; Pandraud, Grégory; Zandbergen, Henny W; Vandersypen, Lieven M K; Dekker, Cees

    2010-01-01

    Nanopores -- nanosized holes that can transport ions and molecules -- are very promising devices for genomic screening, in particular DNA sequencing. Both solid-state and biological pores suffer from the drawback, however, that the channel constituting the pore is long, viz. 10-100 times the distance between two bases in a DNA molecule (0.5 nm for single-stranded DNA). Here, we demonstrate that it is possible to realize and use ultrathin nanopores fabricated in graphene monolayers for single-molecule DNA translocation. The pores are obtained by placing a graphene flake over a microsize hole in a silicon nitride membrane and drilling a nanosize hole in the graphene using an electron beam. As individual DNA molecules translocate through the pore, characteristic temporary conductance changes are observed in the ionic current through the nanopore, setting the stage for future genomic screening.

  9. Suitability of amphibians and reptiles for translocation.

    Science.gov (United States)

    Germano, Jennifer M; Bishop, Phillip J

    2009-02-01

    Translocations are important tools in the field of conservation. Despite increased use over the last few decades, the appropriateness of translocations for amphibians and reptiles has been debated widely over the past 20 years. To provide a comprehensive evaluation of the suitability of amphibians and reptiles for translocation, we reviewed the results of amphibian and reptile translocation projects published between 1991 and 2006. The success rate of amphibian and reptile translocations reported over this period was twice that reported in an earlier review in 1991. Success and failure rates were independent of the taxonomic class (Amphibia or Reptilia) released. Reptile translocations driven by human-wildlife conflict mitigation had a higher failure rate than those motivated by conservation, and more recent projects of reptile translocations had unknown outcomes. The outcomes of amphibian translocations were significantly related to the number of animals released, with projects releasing over 1000 individuals being most successful. The most common reported causes of translocation failure were homing and migration of introduced individuals out of release sites and poor habitat. The increased success of amphibian and reptile translocations reviewed in this study compared with the 1991 review is encouraging for future conservation projects. Nevertheless, more preparation, monitoring, reporting of results, and experimental testing of techniques and reintroduction questions need to occur to improve translocations of amphibians and reptiles as a whole. PMID:19143783

  10. Bacterial translocation: impact of probiotics

    OpenAIRE

    Jeppsson, Bengt; Mangell, Peter; Adawi, Diya; Molin, Göran

    2004-01-01

    There is a considerable amount of data in humans showing that patients who cannot take in nutrients enterally have more organ failure in the intensive care unit, a less favourable prognosis, and a higher frequency of septicaemia, in particular involving bacterial species from the intestinal tract. However, there is little evidence that this is connected with translocation of bacterial species in humans. Animal data more uniformly imply the existence of such a connection. The main focus of thi...

  11. Markovian description of unbiased polymer translocation

    International Nuclear Information System (INIS)

    We perform, with the help of cloud computing resources, extensive Langevin simulations which provide compelling evidence in favor of a general Markovian framework for unbiased three-dimensional polymer translocation. Our statistical analysis consists of careful evaluations of (i) two-point correlation functions of the translocation coordinate and (ii) the empirical probabilities of complete polymer translocation (taken as a function of the initial number of monomers on a given side of the membrane). We find good agreement with predictions derived from the Markov chain approach recently addressed in the literature by the present authors. -- Highlights: ► We investigate unbiased polymer translocation through membrane pores. ► Large statistical ensembles have been produced with the help of cloud computing resources. ► We evaluate the two-point correlation function of the translocation coordinate. ► We evaluate empirical probabilities for complete polymer translocation. ► Unbiased polymer translocation is described as a Markov stochastic process.

  12. Chromosomal rearrangements and the pathogenesis of differentiated thyroid cancer

    Directory of Open Access Journals (Sweden)

    Stefan K.G. Grebe

    2011-12-01

    Full Text Available The majority of thyroid cancers arise from the follicular cells of the thyroid gland, which yield a wide variety of distinct morphotypes, ranging from relatively indolent lesions to the most malignant forms of cancer known. The remaining primary thyroid cancers arise from C cells within the gland and result primarily from mutations of the RET protooncogene, germ line mutations of which give rise to the various forms of multiple endocrine neoplasia. The most common of the follicular cell-derived cancers are papillary carcinomas, (PTC, followed by follicular carcinomas (FTC and its Hurthle cell variant (HCC and finally anaplastic carcinomas (ATC. The pathogenesis of many thyroid cancers, of both PTC and FTC morphotype, involves chromosomal translocations. Rearrangements of the RET protoconcogene are known to be involved in the pathogenesis of ca. 50% of PTC. A similar proportion of FTC have been associated with a t(2;3(q13;p25 translocation, fusing the thyroid-specific transcription factor PAX8 with the peroxisome proliferator-activated receptor gamma (PPARγ nuclear receptor, a ubiquitously expressed transcription factor. These rearrangements have analogy with translocations in erythropoetic cells, which form the only other known group of human malignancies that are largely the result of chromosomal translocation events. In this review we compare and contrast the oncogenic properties of thyroid and erythroid chromosomal transformations and speculate on mechanisms leading to their formation.

  13. Mitotic chromosome structure

    International Nuclear Information System (INIS)

    Mounting evidence is compiling linking the physical organizational structure of chromosomes and the nuclear structure to biological function. At the base of the physical organizational structure of both is the concept of loop formation. This implies that physical proximity within chromosomes is provided for otherwise distal genomic regions and thus hierarchically organizing the chromosomes. Together with entropy many experimental observations can be explained with these two concepts. Among the observations that can be explained are the measured physical extent of the chromosomes, their shape, mechanical behavior, the segregation into territories (chromosomal and territories within chromosomes), the results from chromosome conformation capture experiments, as well as linking gene expression to structural organization.

  14. Chromosome painting and prematurely condensed chromosomes (PCC) - new methods of biological dosimetry

    International Nuclear Information System (INIS)

    Classic methods of biological dosimetry - micronucleus and dicentric assay pose several problems. In the case of micronucleus there is a wide range of spontaneous frequencies and smoking and age are powerfull contributing factors. In the case of dicentrics - low mitotic index in some individuals especially in the elderly or accidentally exposed to high radiation doses. So, there are 2 quite new molecular techniques which at least in part solve these problems: chromosome painting and PCC. Chromosome painting by employing chromosome-specific DNA probes allow easy identification and quantification of translocations. recently, it was shown that calyculin A or okadaic acid, inhibitors of 1 and 2A protein phosphatases, induce PCC in peripheral blood cells. This is an easy biodosimetric method with a high PCC index and independent of the ability of cells to divide e.g. after high (20 Gy) doses when the mitotic index is extremely low. (author)

  15. Chromosomal imbalances revealed in primary rhabdomyosarcomas by comparative genomic hybridization

    Institute of Scientific and Technical Information of China (English)

    LI Qiao-xin; LIU Chun-xia; CHUN Cai-pu; QI Yan; CHANG Bin; LI Xin-xia; CHEN Yun-zhao; NONG Wei-xia; LI Hong-an; LI Feng

    2009-01-01

    Background Previous cytogenetic studies revealed aberrations varied among the throe subtypes of rhabdomyosarcoma. We profiled chromosomal imbalances in the different subtypes and investigated the relationships between clinical parameters and genomic aberrations.Methods Comparative genomic hybridization was used to investigate genomic imbalances in 25 cases of primary rhabdomyosarcomas and two rhabdomyosarcoma cell lines. Specimens were reviewed to determine histological type, pathological grading and clinical staging.Results Changes involving one or more regions of the genome were seen in all rhabdomyosarcomal patients. For rhabdomyosarcoma, DNA sequence gains were most frequently (>30%) seen in chromosomes 2p, 12q, 6p, 9q, 10q, 1p,2q, 6q, 8q, 15q and 18q; losses from 3p, 11p and 6p. In aggressive alveolar rhabdomyosarcoma, frequent gains were seen on chromosomes 12q, 2p, 6p, 2q, 4q, 10q and 15q; losses from 3p, 6p, 1q and 5q. For embryonic rhabdomyosarcoma, frequent gains were on 7p, 9q, 2p, 18q, 1p and 8q; losses only from 11p. Frequently gained chromosome arms of translocation associated with rhabdomyosarcoma were 12q, 2, 6, 10q, 4q and 15q; losses from 3p,6p and 5q. The frequently gained chromosome arms of nontranslocation associated with rhabdomyosarcoma were 2p,9q and 18q, while 11p and 14q were the frequently lost chromosome arms. Gains on chromosome 12q were significantly correlated with translocation type. Gains on chromosome 9q were significantly correlated with clinical staging. Conclusions Gains on chromosomes 2p, 12q, 6p, 9q, 10q, 1p, 2q, 6q, 8q, 15q and 18q and losses on chromosomes 3p, 11p and 6p may be related to rhabdomyosarcomal carcinogenesis. Furthermore, gains on chromosome 12q may be correlated with translocation and gains on chromosome 9q with the early stages of rhabdomyosarcoma.

  16. Interstitial deletion 1p as a result of a de novo reciprocal 1p;2p translocation

    DEFF Research Database (Denmark)

    Hertz, Jens Michael; Jensen, P H

    1985-01-01

    A 5-month-old female patient with psychomotor retardation and minor dysmorphisms is described. Cytogenetic analysis using high-resolution banding technique revealed an interstitial deletion of the short arm of one chromosome 1 (p21----p22.2) resulting from a de novo translocation t(1;2)(p22;p25)....

  17. Detection by the fluorescence in situ hybridization technique of MYC translocations in paraffin-embedded lymphoma biopsy samples

    NARCIS (Netherlands)

    Haralambieva, E; Banham, AH; Bastard, C; Delsol, G; Gaulard, P; Ott, G; Pileri, S; Fletcher, JA; Mason, DY

    2003-01-01

    The detection of chromosomal translocations by fluorescence in situ hybridization (FISH) is widely performed, but very few studies have attempted to apply this technique to paraffin-embedded routine biopsy samples. We report the analysis of paraffin sections from 36 B-cell lymphoma biopsies for MYC

  18. Determinants of the t(14;18) translocation and their role in t(14;18)-positive follicular lymphoma

    NARCIS (Netherlands)

    Kelly, Rachel S.; Roulland, Sandrine; Morgado, Ester; Sungalee, Stéphanie; Jouve, Nathalie; Tumino, Rosario; Krogh, Vittorio; Panico, Salvatore; Polidoro, Silvia; Masala, Giovanna; Sánchez, María José; Chirlaque, Maria Dolores; Sala, Núria; Gurrea, Aurelio Barricarte; Dorronsoro, Miren; Travis, Ruth C.; Riboli, Elio; Gunter, Marc; Murphy, Neil; Vermeulen, Roel; Bueno-de-Mesquita, H. B.; Peeters, Petra H.; Trichopoulou, Antonia; Trichopoulos, Dimitrios; Lagiou, Pagona; Nieters, Alexandra; Canzian, Federico; Kaaks, Rudolf; Boeing, Heiner; Weiderpass, Elisabete; Stocks, Tanja; Melin, Beatrice; Overvad, Kim; Tjønneland, Anne; Olsen, Anja; Brennan, Paul; Johansson, Mattias; Nadel, Bertrand; Vineis, Paolo

    2015-01-01

    Purpose: The strong association between t(14;18) translocation and follicular lymphoma (FL) is well known. However, the determinants of this chromosomal aberration and their role in t(14;18) associated FL remain to be established. Methods: t(14;18) frequency within the B cell lymphoma 2 major breakp

  19. Determinants of the t(14;18) translocation and their role in t(14;18)-positive follicular lymphoma

    NARCIS (Netherlands)

    Kelly, Rachel S; Roulland, Sandrine; Morgado, Ester; Sungalee, Stéphanie; Jouve, Nathalie; Tumino, Rosario; Krogh, Vittorio; Panico, Salvatore; Polidoro, Silvia; Masala, Giovanna; Sánchez, María-José; Chirlaque, Maria-Dolores; Sala, Núria; Gurrea, Aurelio Barricarte; Dorronsoro, Miren; Travis, Ruth C; Riboli, Elio; Gunter, Marc; Murphy, Neil; Vermeulen, Roel; Bueno-de-Mesquita, H B; Peeters, Petra H; Trichopoulou, Antonia; Trichopoulos, Dimitrios; Lagiou, Pagona; Nieters, Alexandra; Canzian, Federico; Kaaks, Rudolf; Boeing, Heiner; Weiderpass, Elisabete; Stocks, Tanja; Melin, Beatrice; Overvad, Kim; Tjønneland, Anne; Olsen, Anja; Brennan, Paul; Johansson, Mattias; Nadel, Bertrand; Vineis, Paolo

    2015-01-01

    PURPOSE: The strong association between t(14;18) translocation and follicular lymphoma (FL) is well known. However, the determinants of this chromosomal aberration and their role in t(14;18) associated FL remain to be established. METHODS: t(14;18) frequency within the B cell lymphoma 2 major breakp

  20. Towards a cumulative biological dosimeter based on chromosome painting and digital image analysis

    International Nuclear Information System (INIS)

    An approach for a long-term (cumulative) biological dosimeter is described, based on the idea that stem cells with irradiation-induced reciprocal translocations and their progeny would neither lose nor gain genetic material and thus should retain the same proliferative potential as non-irradiated cells. Rapid detection of chromosome translocations has become possible in irradiated human lymphocytes by a newly developed fluorescent in situ hybridization method called 'chromosome painting'. We have used this approach to score chromosome aberrations, including translocation events, in over 8000 chromosomes painted in lymphocytes from two patients exposed to an X-ray contrast medium containing Th-232 and from two age-matched control persons. The percentage of both the total fraction of aberrant painted chromosomes and of translocations was found significantly higher in exposed patients. A program was developed which can automatically determine the number of normal and aberrant painted chromosomes and classify evaluated cells as 'normal' or 'aberrant' within 1 to 2 seconds. (orig.)

  1. Correlation of leaf damage with uptake and translocation of glyphosate in velvetleaf (Abutilon theophrasti)

    International Nuclear Information System (INIS)

    Uptake and translocation of glyphosate in three commercial formulations were examined in velvetleaf, a dicotyledonous weed that is commonly treated with glyphosate. The formulations included Roundup(R) (MON35085), Roundup Ultra, and Touchdown(R) as sold in Canada. A minimal amount of 14C-glyphosate was spiked into a lethal rate of each formulation, and the short-term (3 to 72 h) uptake into the treated leaf and subsequent translocation into the plant were measured. Time-course studies showed very rapid uptake and translocation of glyphosate in the Ultra formulation. In comparison, the uptake and translocation of glyphosate in Touchdown was much slower but continued throughout the 72-h period. Glyphosate in the Roundup formulation showed intermediate uptake and translocation. Tissue necrosis at the application sites of Ultra and Roundup was visible within 24 h after treatment. Examinations using stereo and fluorescence microscopy revealed extensive cell death and tissue disruption. Tissue necrosis from Ultra and Roundup was also observed in blank formulations containing no glyphosate and therefore was likely caused by the surfactants. In contrast, the application sites of Touchdown produced little to no leaf damage. Our results demonstrated a direct correlation between tissue necrosis and rapid rates of glyphosate uptake and translocation. (author)

  2. A new Robertsonian translocation in Blonde d'Aquitaine cattle, rob (4; 10)

    OpenAIRE

    Berland HM; Cribiu EP; Bahri-Darwich I; Darré R

    1993-01-01

    L’étude cytogénétique d’une population de bovins Blonde d’Aquitaine a permis de trouver une nouvelle translocation robertsonienne. Les chromosomes impliqués dans cette anomalie ont été déterminés à l’aide des techniques de marquage G (GTG), R (RBG) et C (CBG). Les chromosomes concernés sont le 4 et le 10. L’existence de deux vaches porteuses demi-soeurs de père indique une origine vraisemblablement paternelle de l’anomalie.

  3. Robertsonian (15q;15q) translocation in a child with Angelman syndrome: Evidence of uniparental disomy

    Energy Technology Data Exchange (ETDEWEB)

    Tonk, V.; Schultz, R.A.; Wilson, G.N.; Schultz, R.A. [Univ. of Texas Southwestern Medical Center, Dallas, TX (United States)] [and others

    1996-12-30

    A balanced Robertsonian translocation 45,XY,t(15q15q) was detected in a patient with mental retardation, microcephaly, and hypertonia. Deletion of the 15q11q13 region was unlikely based on fluorescence in situ hybridization studies that revealed hybridization of appropriate DNA probes to both arms of the Robertsonian chromosome. Inheritance of alleles from 13 highly polymorphic DNA markers on chromosome 15 showed paternal uniparental isodisomy. The clinical, cytogenetic, and molecular results are consistent with a diagnosis of Angelman syndrome. 8 refs., 3 figs.

  4. Chromosome synapsis and recombination in simple and complex chromosomal heterozygotes of tuco-tuco (Ctenomys talarum: Rodentia: Ctenomyidae).

    Science.gov (United States)

    Basheva, Ekaterina A; Torgasheva, Anna A; Gomez Fernandez, Maria Jimena; Boston, Emma; Mirol, Patricia; Borodin, Pavel M

    2014-09-01

    The chromosomal speciation hypothesis suggests that irregularities in synapsis, recombination, and segregation in heterozygotes for chromosome rearrangements may restrict gene flow between karyotypically distinct populations and promote speciation. Ctenomys talarum is a South American subterranean rodent inhabiting the coastal regions of Argentina, whose populations polymorphic for Robertsonian and tandem translocations seem to have a very restricted gene flow. To test if chromosomal differences are involved in isolation among its populations, we examined chromosome pairing, recombination, and meiotic silencing of unsynapsed chromatin in male meiosis of simple and complex translocation heterozygotes using immunolocalization of the MLH1 marking mature recombination nodules and phosphorylated histone γH2A.X marking unrepaired double-strand breaks. We observed small asynaptic areas labeled by γH2A.X in pericentromeric regions of the chromosomes involved in the trivalents and quadrivalents. We also observed a decrease of recombination frequency and a distalization of the crossover distribution in the heterozygotes and metacentric homozygotes compared to acrocentric homozygotes. We suggest that the asynapsis of the pericentromeric regions are unlikely to induce germ cell death and decrease fertility of the heterozygotes; however, suppressed recombination in pericentromeric areas of the multivalents may reduce gene flow between chromosomally different populations of the Talas tuco-tuco. PMID:24924853

  5. Speeding up chromosome evolution in Phaseolus: multiple rearrangements associated with a one-step descending dysploidy.

    Science.gov (United States)

    Fonsêca, Artur; Ferraz, Maria Eduarda; Pedrosa-Harand, Andrea

    2016-06-01

    The genus Phaseolus L. has been subject of extensive cytogenetic studies due to its global economic importance. It is considered karyotypically stable, with most of its ca. 75 species having 2n = 22 chromosomes, and only three species (Phaseolus leptostachyus, Phaseolus macvaughii, and Phaseolus micranthus), which form the Leptostachyus clade, having 2n = 20. To test whether a simple chromosomal fusion was the cause of this descending dysploidy, mitotic chromosomes of P. leptostachyus (2n = 20) were comparatively mapped by fluorescent in situ hybridization (FISH) using bacterial artificial chromosomes (BACs) and ribosomal DNA (rDNA) probes. Our results corroborated the conservation of the 5S and 45S rDNA sites on ancestral chromosomes 10 and 6, respectively. The reduction from x = 11 to x = 10 was the result of the insertion of chromosome 10 into the centromeric region of chromosome 11, supporting a nested chromosome fusion (NCF) as the main cause of this dysploidy. Additionally, the terminal region of the long arm of chromosome 6 was translocated to this larger chromosome. Surprisingly, the NCF was accompanied by several additional translocations and inversions previously unknown for the genus, suggesting that the dysploidy may have been associated to a burst of genome reorganization in this otherwise stable, diploid plant genus. PMID:26490170

  6. Problems with mitigation translocation of herpetofauna.

    Science.gov (United States)

    Sullivan, Brian K; Nowak, Erika M; Kwiatkowski, Matthew A

    2015-02-01

    Mitigation translocation of nuisance animals is a commonly used management practice aimed at resolution of human-animal conflict by removal and release of an individual animal. Long considered a reasonable undertaking, especially by the general public, it is now known that translocated subjects are negatively affected by the practice. Mitigation translocation is typically undertaken with individual adult organisms and has a much lower success rate than the more widely practiced conservation translocation of threatened and endangered species. Nonetheless, the public and many conservation practitioners believe that because population-level conservation translocations have been successful that mitigation translocation can be satisfactorily applied to a wide variety of human-wildlife conflict situations. We reviewed mitigation translocations of reptiles, including our own work with 3 long-lived species (Gila monsters [Heloderma suspectum], Sonoran desert tortoises [Gopherus morafkai], and western diamond-backed rattlesnakes [Crotalus atrox]). Overall, mitigation translocation had a low success rate when judged either by effects on individuals (in all studies reviewed they exhibited increased movement or increased mortality) or by the success of the resolution of the human-animal conflict (translocated individuals often returned to the capture site). Careful planning and identification of knowledge gaps are critical to increasing success rates in mitigation translocations in the face of increasing pressure to find solutions for species threatened by diverse anthropogenic factors, including climate change and exurban and energy development. PMID:25040040

  7. Klinefelter syndrome and other sex chromosomal aneuploidies

    Directory of Open Access Journals (Sweden)

    Graham John M

    2006-10-01

    Full Text Available Abstract The term Klinefelter syndrome (KS describes a group of chromosomal disorder in which there is at least one extra X chromosome to a normal male karyotype, 46,XY. XXY aneuploidy is the most common disorder of sex chromosomes in humans, with prevalence of one in 500 males. Other sex chromosomal aneuploidies have also been described, although they are much less frequent, with 48,XXYY and 48,XXXY being present in 1 per 17,000 to 1 per 50,000 male births. The incidence of 49,XXXXY is 1 per 85,000 to 100,000 male births. In addition, 46,XX males also exist and it is caused by translocation of Y material including sex determining region (SRY to the X chromosome during paternal meiosis. Formal cytogenetic analysis is necessary to make a definite diagnosis, and more obvious differences in physical features tend to be associated with increasing numbers of sex chromosomes. If the diagnosis is not made prenatally, 47,XXY males may present with a variety of subtle clinical signs that are age-related. In infancy, males with 47,XXY may have chromosomal evaluations done for hypospadias, small phallus or cryptorchidism, developmental delay. The school-aged child may present with language delay, learning disabilities, or behavioral problems. The older child or adolescent may be discovered during an endocrine evaluation for delayed or incomplete pubertal development with eunuchoid body habitus, gynecomastia, and small testes. Adults are often evaluated for infertility or breast malignancy. Androgen replacement therapy should begin at puberty, around age 12 years, in increasing dosage sufficient to maintain age appropriate serum concentrations of testosterone, estradiol, follicle stimulating hormone (FSH, and luteinizing hormone (LH. The effects on physical and cognitive development increase with the number of extra Xs, and each extra X is associated with an intelligence quotient (IQ decrease of approximately 15–16 points, with language most affected

  8. Genes on chromosomes 4, 9, and 19 involved in 11q23 abnormalities in acute leukemia share sequence homology and/or common motifs.

    OpenAIRE

    Nakamura, T.(International Center for Elementary Particle Physics and Department of Physics, The University of Tokyo, Tokyo, Japan); Alder, H; Y. Gu; R. Prasad; Canaani, O; Kamada, N; Gale, R P; Lange, B; Crist, W M; Nowell, P C

    1993-01-01

    Chromosome translocations involving band 11q23 are associated with human acute leukemias. These translocations fuse the ALL-1 gene, homolog of Drosophila trithorax and located at chromosome band 11q23, to genes from a variety of chromosomes. We cloned and sequenced cDNAs derived from transcripts of the AF-4 and AF-9 genes involved in the most common chromosome abnormalities, t(4:11)(q21:q23) and t(9:11)(p22:q23), respectively. Sequence analysis indicates high homology between the AF-9 gene pr...

  9. Dynamics of Response to Asynapsis and Meiotic Silencing in Spermatocytes from Robertsonian Translocation Carriers

    OpenAIRE

    Naumova, Anna K.; Shawn Fayer; Jacky Leung; Boateng, Kingsley A.; R Daniel Camerini-Otero; Teruko Taketo

    2013-01-01

    Failure of homologous synapsis during meiotic prophase triggers transcriptional repression. Asynapsis of the X and Y chromosomes and their consequent silencing is essential for spermatogenesis. However, asynapsis of portions of autosomes in heterozygous translocation carriers may be detrimental for meiotic progression. In fact, a wide range of phenotypic outcomes from meiotic arrest to normal spermatogenesis have been described and the causes of such a variation remain elusive. To better unde...

  10. Correlation of chromosome patterns in human leukemic cells with exposure to chemicals and/or radiation

    International Nuclear Information System (INIS)

    This document lists the major accomplishments funded by DOE in the period of January 1989 through June 1991. Specific topics covered include: studies of chromosome translocations in patients with Acute Myeloid Leukemia (AML) de novo; correlation of karyotype and therapeutic response; the relationship of specific chromosomal abnormalities to a patient's occupational history; definition of regions on chromosome 5 involved in leukemogenesis; the influence of pervious chemotherapy on leukemogenesis; identification of genes at or near breakpoints involved in leukemia and lymphoma; identification of the critical rearrangement in the 9;11 translocation; molecular analysis of translocations involving 11q23; identification of other genes (like RAS) involved in leukemogenesis; development of fluorescence in situ hybridization as a cytogenetic tool; and examination of an unequivocal case of radiation induced preleukemia. 26 refs., 8 figs., 6 tabs

  11. Radioprotective role of imidazole on radiation-induced chromosomal damage in rat bone marrow cells

    International Nuclear Information System (INIS)

    Whole body gamma irradiation (4 Gy) of male laboratory rats, Rattus norvegicus, induced chromosomal damage and decrease of mitotic index in bone marrow cells which were investigated 0-1/2, 6, 24 and 48 hr. After treatment. Chromosomal aberrations observed consisted of chromatid breaks, centromeric attenuation, chromosomal translocations and rings. The intraperitoneal administration of imidazole at 0.35 mg/g body weight prior to irradiation exerted a definite protective character against radiation induced chromosomal aberration and affected the mitotic index of bone marrow cells

  12. Small chromosomes among Danish Candida glabrata isolates originated through different mechanisms

    DEFF Research Database (Denmark)

    Ahmad, Khadija Mohamed; Ishchuk, Olena P.; Hellborg, Linda;

    2013-01-01

    participate in their origin: (i) through a segmental duplication which covered the centromeric region, or (ii) by a translocation event moving a larger chromosome arm to another chromosome that leaves the centromere part with the shorter arm. The first type of small chromosomes carrying duplicated genes...... chromosomes, which were smaller than 0.5 Mb. Regarding the year, patient and hospital, these C. glabrata strains had independent origin and the analyzed small chromosomes were structurally not related to each other (i.e. they contained different sets of genes). We suggest that at least two mechanisms could...... exhibited mitotic instability, while the second type, which contained the corresponding genes in only one copy in the genome, was mitotically stable. Apparently, in patients C. glabrata chromosomes are frequently reshuffled resulting in new genetic configurations, including appearance of small chromosomes...

  13. PRODUCTION OF A NOVEL ROBERTSONIAN TRANSLOCATION FROM THINOPYRUM BESSARABICUM INTO BREAD WHEAT.

    Science.gov (United States)

    Ghazali, S; Mirzaghaderi, G; Majdi, M

    2015-01-01

    Development of wheat-alien translocation lines will facilitate its practical utilization in wheat improvement. The objective of the present study was to produce compensating wheat--Thinopyrum bessarabicum whole arm Robertsonian translocations (RobTs) involving chromosomes 2B of wheat and 2E(b) of Th. bessarabicum through the mechanism of centric breakage-fusion. F2 population from crosses between DS2E(b)(2B) substitution line and bread wheat 'Roushan' (2n = 6x = 42, AABBDD) as female parent were made. Forty one F2 lines (L1 to L41) were screened for their chromosome composition. Three 2E(b) specific PCR-based Landmark Unique Gene (PLUG) markers were used for screening F2 progeny derived from plants double-monosomic for chromosome 2B and 2E(b). Two Rob Ts (-5%) were observed among F2 plants. Homozygous translocation (T2E(b)S.2BL) with good plant vigor and full fertility were selected from F3 families. The T2E(b)S.2BL stock has longer awn than that of its parents. It is cytogenetically stable, and may be useful in wheat improvement. PMID:26841492

  14. Uniparental disomy resulting from heterozygous Robertsonian translocation (13q14q in both parents

    Directory of Open Access Journals (Sweden)

    Mir Davood Omrani

    2007-06-01

    Full Text Available

    Uniparental disomy (UPD is a situation in which both members of a chromosome pair are inherited from one parent. This study has been conducted on a family with a five year-old healthy girl and a mentally retarded boy. The parents were first cousins and they both had Robertsonian translocation between their long arm of chromosome 13 and 14 [45, XY t (13q14q]. Their affected son had a similar karyotype. Their daughter’s karyotype revealed the presence of a homozygous Robertsonian 13/14 translocation 44, XX t (13q14, t(13q14q. According to the clinical findings it is possible to conclude that the affected boy suffers from UPD.

    KEY WORDS: Robertsonian translocation, uniparental disomy, chromosome 14.

  15. A correlative study on the frequencies of radiation-induced chromosome aberrations in somatic and germ cells of mammals

    International Nuclear Information System (INIS)

    A series of investigations on the correlation between the frequencies of radiation-induced chromosome aberrations in somatic and germ cells of mouse and rhesus monkey is described. In the mouse the induction of reciprocal translocations in bone-marrow cells was compared with that in spermatogonia (as scored in the descending spermatocytes). In the rhesus monkey frequencies of radiation-induced chromosome aberrations in spermatogonia and peripheral blood lymphocytes were studied. Furthermore the effect of multigeneration irradiation (69 generations with 200 rads X-rays) on the sensitivity for translocation induction in spermatogonia of male mice was studied. Frequencies of dicentric chromosomes and chromosomal deletions in cultured peripheral blood lymphocytes of 5 different types of mice were determined following in vitro irradiation with doses of 100 and/or 200 rad X-rays. To obtain more insight into the processes underlying translocation induction in spermatogonia of the mouse, fractionation experiments were conducted

  16. Trisomy 8p (p11.2-pter due to maternal translocation t(8;13(p11;p12 in a child with dysmorphic features

    Directory of Open Access Journals (Sweden)

    Mahjoubi F

    2005-01-01

    Full Text Available Here we present a phenotypic description of a male child with trisomy 8p resulting from a maternal balanced reciprocal translocation. The patient presented with dysmorphic face, aplasia of the corpus callosum, and atrophy of cortex, congenital heart defect and marked hypotonia. The father had a normal karyotype. The mother had an apparently balanced translocation involving chromosomes 8 and 13 [46, XX, t(8;13(p11.2;p12]. The karyotype of the child was ascertained as 46, XY, der(13t(8;13(p11.2;p12. This is the second reported case of trisomy 8p resulting from a translocation between chromosomes 8 and 13. The chromosomal breakpoints in the two cases differed.

  17. Microbiology of bacterial translocation in humans

    OpenAIRE

    O'Boyle, C; MacFie, J; Mitchell, C.; Johnstone, D.; Sagar, P; Sedman, P

    1998-01-01

    Background—Gut translocation of bacteria has been shown in both animal and human studies. Evidence from animal studies that links bacterial translocation to the development of postoperative sepsis and multiple organ failure has yet to be confirmed in humans. 
Aims—To examine the spectrum of bacteria involved in translocation in surgical patients undergoing laparotomy and to determine the relation between nodal migration of bacteria and the development of postoperative septic co...

  18. Translocation of DNA across bacterial membranes

    OpenAIRE

    Dreiseikelmann, Brigitte

    1994-01-01

    DNA translocation across bacterial membranes occurs during the biological processes of infection by bacteriophages, conjugative DNA transfer of plasmids, T-DNA transfer, and genetic transformation. The mechanism of DNA translocation in these systems is not fully understood, but during the last few years extensive data about genes and gene products involved in the translocation processes have accumulated. One reason for the increasing interest in this topic is the discussion about horizontal g...

  19. Abnormalities of chromosome No. 1: significance in malignant transformation

    Energy Technology Data Exchange (ETDEWEB)

    Rowley, J.D.

    1978-01-01

    Studies of human hematologic malignancies have provided sufficient data not only for the identification of nonrandom abnormalities of whole chromosomes, but also for determination of the specific chromosome regions involved. In clonal aberrations leading to an excess of chromosome No. 1, or a partial excess of No. 1, trisomy for bands 1q25 to 1q32 was noted in the myeloid cells obtained from every one of 35 patients who had various disorders, such as acute leukemia, polycythemia vera, or myelofibrosis. Similar chromosome changes were a consistent finding in various solid tumors as well. This rearrangement was not the result of a particularly fragile site in that region of the chromosome, since the break points in reciprocal translocations that involve No. 1 occurred almost exclusively in the short arm. The nonrandom chromosome changes found in neoplastic cells can now be correlated with the gene loci on these chromosomes or chromosome segments as an attempt is made to identify specific genes that might be related to malignancy.

  20. Methods of biological dosimetry employing chromosome-specific staining

    Science.gov (United States)

    Gray, Joe W.; Pinkel, Daniel

    2000-01-01

    Methods and compositions for staining based upon nucleic acid sequence that employ nucleic acid probes are provided. Said methods produce staining patterns that can be tailored for specific cytogenetic analyses. Said probes are appropriate for in situ hybridization and stain both interphase and metaphase chromosomal material with reliable signals. The nucleic acid probes are typically of a complexity greater than 50 kb, the complexity depending upon the cytogenetic application. Methods are provided to disable the hybridization capacity of shared, high copy repetitive sequences and/or remove such sequences to provide for useful contrast. Still further methods are provided to produce chromosome-specific staining reagents which are made specific to the targeted chromosomal material, which can be one or more whole chromosomes, one or more regions on one or more chromosomes, subsets of chromosomes and/or the entire genome. Probes and test kits are provided for use in tumor cytogenetics, in the detection of disease related loci, in analysis of structural abnormalities, such as translocations, and for biological dosimetry. Further, methods and prenatal test kits are provided to stain targeted chromosomal material of fetal cells, including fetal cells obtained from maternal blood. Still further, the invention provides for automated means to detect and analyse chromosomal abnormalities.

  1. Preimplantation Genetic Diagnosis and Natural Conception: A Comparison of Live Birth Rates in Patients with Recurrent Pregnancy Loss Associated with Translocation

    OpenAIRE

    Shinichiro Ikuma; Takeshi Sato; Mayumi Sugiura-Ogasawara; Motoi Nagayoshi; Atsushi Tanaka; Satoru Takeda

    2015-01-01

    Background Established causes of recurrent pregnancy loss (RPL) include antiphospholipid syndrome, uterine anomalies, parental chromosomal abnormalities, particularly translocations, and abnormal embryonic karyotypes. The number of centers performing preimplantation genetic diagnosis (PGD) for patients with translocations has steadily increased worldwide. The live birth rate with PGD was reported to be 27-54%. The live birth rate with natural conception was reported to be 37-63% on the first ...

  2. Translocations affecting human immunoglobulin heavy chain locus

    Directory of Open Access Journals (Sweden)

    Sklyar I. V.

    2014-03-01

    Full Text Available Translocations involving human immunoglobulin heavy chain (IGH locus are implicated in different leukaemias and lymphomas, including multiple myeloma, mantle cell lymphoma, Burkitt’s lymphoma and diffuse large B cell lymphoma. We have analysed published data and identified eleven breakpoint cluster regions (bcr related to these cancers within the IgH locus. These ~1 kbp bcrs are specific for one or several types of blood cancer. Our findings could help devise PCR-based assays to detect cancer-related translocations, to identify the mechanisms of translocations and to help in the research of potential translocation partners of the immunoglobulin locus at different stages of B-cell differentiation.

  3. Chromosomal Analysis of Couples with Repeated Spontaneous Abortions in Northeastern Iran

    Directory of Open Access Journals (Sweden)

    Saeedeh Ghazaey

    2015-04-01

    Full Text Available Background: Cytogenetic study of reproductive wastage is an important aspect in determining the genetic background of early embryogenesis. Approximately 15 to 20% of all pregnancies in humans are terminated as recurrent spontaneous abortions (RSAs. The aim of this study was to detect chromosome abnormalities in couples with RSAs and to compare our results with those reported previously. Materials and Methods: In this retrospective study, the pattern of chromosomal aberrations was evaluated during a six-year period from 2005 to 2011. The population under study was 728 couples who attended genetic counseling services for their RSAs at Pardis Clinical and Genetics Laboratory, Mashhad, Iran. Results: In this study, about 11.7% of couples were carriers of chromosomal aberrations. The majority of abnormalities were found in couples with history of abortion, without stillbirth or livebirth. Balanced reciprocal translocations, Robertsonian translocations, inversions and sex chromosome aneuploidy were seen in these cases. Balanced reciprocal translocations were the most frequent chromosomal anomalies (62.7% detected in current study. Conclusion: These findings suggest that chromosomal abnormalities can be one of the important causes of RSAs. In addition, cytogenetic study of families who experienced RSAs may prevent unnecessary treatment if RSA are caused by chromosomal abnormalities. The results of cytogenetic studies of RSA cases will provide a standard protocol for the genetic counselors in order to follow up and to help these families.

  4. The DNA sequence of human chromosome 7.

    Science.gov (United States)

    Hillier, Ladeana W; Fulton, Robert S; Fulton, Lucinda A; Graves, Tina A; Pepin, Kymberlie H; Wagner-McPherson, Caryn; Layman, Dan; Maas, Jason; Jaeger, Sara; Walker, Rebecca; Wylie, Kristine; Sekhon, Mandeep; Becker, Michael C; O'Laughlin, Michelle D; Schaller, Mark E; Fewell, Ginger A; Delehaunty, Kimberly D; Miner, Tracie L; Nash, William E; Cordes, Matt; Du, Hui; Sun, Hui; Edwards, Jennifer; Bradshaw-Cordum, Holland; Ali, Johar; Andrews, Stephanie; Isak, Amber; Vanbrunt, Andrew; Nguyen, Christine; Du, Feiyu; Lamar, Betty; Courtney, Laura; Kalicki, Joelle; Ozersky, Philip; Bielicki, Lauren; Scott, Kelsi; Holmes, Andrea; Harkins, Richard; Harris, Anthony; Strong, Cynthia Madsen; Hou, Shunfang; Tomlinson, Chad; Dauphin-Kohlberg, Sara; Kozlowicz-Reilly, Amy; Leonard, Shawn; Rohlfing, Theresa; Rock, Susan M; Tin-Wollam, Aye-Mon; Abbott, Amanda; Minx, Patrick; Maupin, Rachel; Strowmatt, Catrina; Latreille, Phil; Miller, Nancy; Johnson, Doug; Murray, Jennifer; Woessner, Jeffrey P; Wendl, Michael C; Yang, Shiaw-Pyng; Schultz, Brian R; Wallis, John W; Spieth, John; Bieri, Tamberlyn A; Nelson, Joanne O; Berkowicz, Nicolas; Wohldmann, Patricia E; Cook, Lisa L; Hickenbotham, Matthew T; Eldred, James; Williams, Donald; Bedell, Joseph A; Mardis, Elaine R; Clifton, Sandra W; Chissoe, Stephanie L; Marra, Marco A; Raymond, Christopher; Haugen, Eric; Gillett, Will; Zhou, Yang; James, Rose; Phelps, Karen; Iadanoto, Shawn; Bubb, Kerry; Simms, Elizabeth; Levy, Ruth; Clendenning, James; Kaul, Rajinder; Kent, W James; Furey, Terrence S; Baertsch, Robert A; Brent, Michael R; Keibler, Evan; Flicek, Paul; Bork, Peer; Suyama, Mikita; Bailey, Jeffrey A; Portnoy, Matthew E; Torrents, David; Chinwalla, Asif T; Gish, Warren R; Eddy, Sean R; McPherson, John D; Olson, Maynard V; Eichler, Evan E; Green, Eric D; Waterston, Robert H; Wilson, Richard K

    2003-07-10

    Human chromosome 7 has historically received prominent attention in the human genetics community, primarily related to the search for the cystic fibrosis gene and the frequent cytogenetic changes associated with various forms of cancer. Here we present more than 153 million base pairs representing 99.4% of the euchromatic sequence of chromosome 7, the first metacentric chromosome completed so far. The sequence has excellent concordance with previously established physical and genetic maps, and it exhibits an unusual amount of segmentally duplicated sequence (8.2%), with marked differences between the two arms. Our initial analyses have identified 1,150 protein-coding genes, 605 of which have been confirmed by complementary DNA sequences, and an additional 941 pseudogenes. Of genes confirmed by transcript sequences, some are polymorphic for mutations that disrupt the reading frame. PMID:12853948

  5. An unbalanced submicroscopic translocation t(8;16)(q24.3;p13.3)pat associated with tuberous sclerosis complex, adult polycystic kidney disease, and hypomelanosis of Ito

    NARCIS (Netherlands)

    H.J.F.M.M. Eussen (Bert); S. Verhoef; A. Fois; D.J.J. Halley (Dicky); G. Bartalini (Gabriella); L. Bakker (Lida); P. Balestri (Paolo); C. di Lucca; J.O. van Hemel; H. Dauwerse; A.M.W. van den Ouweland (Ans); C. Ris-Stalpers (Carolyn)

    2000-01-01

    textabstractWe report on a familial submicroscopic translocation involving chromosomes 8 and 16. The proband of the family had a clinical picture suggestive of a large deletion in the chromosome 16p13.3 area, as he was affected with tuberous sclerosis complex (TSC) and had alpha th

  6. Reduced risk of synovial sarcoma in females: X-chromosome inactivation?

    OpenAIRE

    Bu, X; Bernstein, L; Brynes, R. K.

    2002-01-01

    Synovial sarcoma shows a characteristic t(X;18) translocation but not the expected female predominance in incidence. We speculate that, among females, one X-chromosome is inactivated and that only the translocation to an active X-chromosome leads to development of synovial sarcoma. Population-based cancer registry data from the SEER program support this hypothesis. British Journal of Cancer (2002) 87, 28–30. doi:10.1038/sj.bjc.6600362 www.bjcancer.com © 2002 Cancer Research UK

  7. Cytogenetic and molecular characterization of eight new reciprocal translocations in the pig species. Estimation of their incidence in French populations

    Directory of Open Access Journals (Sweden)

    Darré Roland

    2002-05-01

    Full Text Available Abstract Eight new cases of reciprocal translocation in the domestic pig are described. All the rearrangements were highlighted using GTG banding techniques. Chromosome painting experiments were also carried out to confirm the proposed hypotheses and to accurately locate the breakpoints. Three translocations, rcp(4;6(q21;p14, rcp(2;6(p17;q27 and rcp(5;17(p12;q13 were found in boars siring small litters (8.3 and 7.4 piglets born alive per litter, on average, for translocations 2/6 and 5/17, respectively. The remaining five, rcp(5;8(p12;q21, rcp(15;17(q24;q21, rcp(7;8(q24;p21, rcp(5;8(p11;p23 and rcp(3;15(q27;q13 were identified in young boars controlled before entering reproduction. A decrease in prolificacy of 22% was estimated for the 3/15 translocation after reproduction of the boar carrier. A parental origin by inheritance of the translocation was established for the (5;8(p11;p23 translocation. The overall incidence of reciprocal translocations in the French pig populations over the 2000/2001 period was estimated (0.34%.

  8. De novo unbalanced translocations in Prader-Willi and Angelman syndrome might be the reciprocal product of inv dup(15s.

    Directory of Open Access Journals (Sweden)

    Elena Rossi

    Full Text Available The 15q11-q13 region is characterized by high instability, caused by the presence of several paralogous segmental duplications. Although most mechanisms dealing with cryptic deletions and amplifications have been at least partly characterized, little is known about the rare translocations involving this region. We characterized at the molecular level five unbalanced translocations, including a jumping one, having most of 15q transposed to the end of another chromosome, whereas the der(15(pter->q11-q13 was missing. Imbalances were associated either with Prader-Willi or Angelman syndrome. Array-CGH demonstrated the absence of any copy number changes in the recipient chromosome in three cases, while one carried a cryptic terminal deletion and another a large terminal deletion, already diagnosed by classical cytogenetics. We cloned the breakpoint junctions in two cases, whereas cloning was impaired by complex regional genomic architecture and mosaicism in the others. Our results strongly indicate that some of our translocations originated through a prezygotic/postzygotic two-hit mechanism starting with the formation of an acentric 15qter->q1::q1->qter representing the reciprocal product of the inv dup(15 supernumerary marker chromosome. An embryo with such an acentric chromosome plus a normal chromosome 15 inherited from the other parent could survive only if partial trisomy 15 rescue would occur through elimination of part of the acentric chromosome, stabilization of the remaining portion with telomere capture, and formation of a derivative chromosome. All these events likely do not happen concurrently in a single cell but are rather the result of successive stabilization attempts occurring in different cells of which only the fittest will finally survive. Accordingly, jumping translocations might represent successful rescue attempts in different cells rather than transfer of the same 15q portion to different chromosomes. We also hypothesize that

  9. Haloarchaeal Protein Translocation via the Twin Arginine Translocation Pathway

    Energy Technology Data Exchange (ETDEWEB)

    Pohlschroder Mechthild

    2009-02-03

    Protein transport across hydrophobic membranes that partition cellular compartments is essential in all cells. The twin arginine translocation (Tat) pathway transports proteins across the prokaryotic cytoplasmic membranes. Distinct from the universally conserved Sec pathway, which secretes unfolded proteins, the Tat machinery is unique in that it secretes proteins in a folded conformation, making it an attractive pathway for the transport and secretion of heterologously expressed proteins that are Sec-incompatible. During the past 7 years, the DOE-supported project has focused on the characterization of the diversity of bacterial and archaeal Tat substrates as well as on the characterization of the Tat pathway of a model archaeon, Haloferax volcanii, a member of the haloarchaea. We have demonstrated that H. volcanii uses this pathway to transport most of its secretome.

  10. Formation of a G-quadruplex at the BCL2 major breakpoint region of the t(14;18) translocation in follicular lymphoma

    OpenAIRE

    Nambiar, Mridula; Goldsmith, G.; Moorthy, Balaji T.; Lieber, Michael R.; Joshi, Mamata V.; Choudhary, Bibha; Hosur, Ramakrishna V.; Sathees C Raghavan

    2010-01-01

    The t(14;18) translocation in follicular lymphoma is one of the most common chromosomal translocations. Most breaks on chromosome 18 are located at the 3′-UTR of the BCL2 gene and are mainly clustered in the major breakpoint region (MBR). Recently, we found that the BCL2 MBR has a non-B DNA character in genomic DNA. Here, we show that single-stranded DNA modeled from the template strand of the BCL2 MBR, forms secondary structures that migrate faster on native PAGE in the presence of potassium...

  11. Chromosomal phylogeny and evolution of gibbons (Hylobatidae).

    Science.gov (United States)

    Müller, Stefan; Hollatz, Melanie; Wienberg, Johannes

    2003-11-01

    Although human and gibbons are classified in the same primate superfamily (Hominoidae), their karyotypes differ by extensive chromosome reshuffling. To date, there is still limited understanding of the events that shaped extant gibbon karyotypes. Further, the phylogeny and evolution of the twelve or more extant gibbon species (lesser apes, Hylobatidae) is poorly understood, and conflicting phylogenies have been published. We present a comprehensive analysis of gibbon chromosome rearrangements and a phylogenetic reconstruction of the four recognized subgenera based on molecular cytogenetics data. We have used two different approaches to interpret our data: (1) a cladistic reconstruction based on the identification of ancestral versus derived chromosome forms observed in extant gibbon species; (2) an approach in which adjacent homologous segments that have been changed by translocations and intra-chromosomal rearrangements are treated as discrete characters in a parsimony analysis (PAUP). The orangutan serves as an "outgroup", since it has a karyotype that is supposed to be most similar to the ancestral form of all humans and apes. Both approaches place the subgenus Bunopithecus as the most basal group of the Hylobatidae, followed by Hylobates, with Symphalangus and Nomascus as the last to diverge. Since most chromosome rearrangements observed in gibbons are either ancestral to all four subgenera or specific for individual species and only a few common derived rearrangements at subsequent branching points have been recorded, all extant gibbons may have diverged within relatively short evolutionary time. In general, chromosomal rearrangements produce changes that should be considered as unique landmarks at the divergence nodes. Thus, molecular cytogenetics could be an important tool to elucidate phylogenies in other species in which speciation may have occurred over very short evolutionary time with not enough genetic (DNA sequence) and other biological divergence to

  12. Chromosome painting in plants.

    NARCIS (Netherlands)

    Schubert, I.; Fransz, P.F.; Fuchs, J.; Jong, de J.H.

    2001-01-01

    The current 'state-of-art' as to chromosome painting in plants is reviewed. We define different situations described as painting so far: i) Genomic in situ hybridisation (GISH) with total genomic DNA to distinguish alien chromosomes on the basis of divergent dispersed repeats, ii) 'Chromosomal in si

  13. Gamma-rays induced reciprocal translocations in Nigella damascena L

    International Nuclear Information System (INIS)

    Gamma irradiations (5 kR, 10 kR and 20 kR) of Nigella damascena L. (cultivated variety Miss Jekyl) seeds (with moisture content 13.33%) induced 3 translocation heterozygotes (P-I from 5 kR, P-38 from 5 kR and P- 73 from 20 kR). These exhibited the formation of either a ring or a chain of 4 chromosomes in 30.7% to 68.1% meiocytes. Predominance of rings or equal proportion of rings and chains occurred in translocation heterozygotes P-38 and in P-I and P-73 respectively. The rings showed preponderance of adjacent orientation and the chains demonstrated frequent alternate orientation. Though pollen fertility was 16.5%, 24.8% and 17.1% in P-I, P-38 and P-73 respectively, frequency of viable pollen grains was nil in P-38 and P-73 and it was 5.2% in P-I. Seed sterility was complete in P-38 and P-73 but P-I yielded 2.11% filled seeds per capsule on selfing and 2.56% seeds/capsule on cross pollination. (author)

  14. Recurrent chromosomal rearrangements at bands 8q24 and 11q13 in gastric cancer as detected by multicolor spectral karyotyping

    Institute of Scientific and Technical Information of China (English)

    Yasuhide Yamashita; Akio Hagiwara; Hisakazu Yamagishi; Masafumi Taniwaki; Kazuhiro Nishida; Takashi Okuda; Kenichi Nomura; Yosuke Matsumoto; Shoji Mitsufuji; Shigeo Horiike; Hiroyuki Hata; Chohei Sakakura

    2005-01-01

    AIM: To identify chromosomal translocations specific to gastric cancer (GC), spectral karyotyping (SKY) analysis was performed on established cell lines and cancerous ascitic fluids.METHODS: SKY analysis of 10 established cell lines and seven cancerous ascitic fluid samples identified recurrent chromosomal breakpoints and translocations in GC,several of which involved chromosomal loci of oncogenes or tumor suppressor genes.RESULTS: A total of 630 chromosomal breaks were identified. Chromosome no.8 was the most frequently involved in rearrangements (65 breaks), followed by chromosomes no. 11 (53), no. 1 (49), no. 7 (46), no. 13 (37), no. 3 (36), no. 17 (33), and no. 20 (29). Frequent breakpoints were detected in 8q24.1 (30 breaks), 11q13 (29), 13q14 (16), 20q11.2 (14), 7q32 (13), 17q11.2 (13),18q21 (12), 17q23 (9), 18q11.2 (9). SKY analysis identified a total of 242 chromosomal rearrangements including 190 reciprocal and non-reciprocal translocations. The recurrent combinations of chromosomal bands involved in translocations were 8q24.1 and 13q14 (3 cases), 8q24.1 and 11q13 (3), 11q13 and 17q11.2 (2), and 18q11.2 and 20q11.2 (2). Our study validated the ability of SKY to characterize in detail the chromosomal rearrangements in solid tumors and derived cell lines. Moreover,fluorescence in situ hybridization helped to identify the insertions, translocations, and homogeneously staining regions of MYCand CCND1 gene loci.CONCLUSION: The non-random co-localization of certain cytogenetic bands suggests the importance of chromosomal translocations in gastric carcinogenesis, by serving as landmarks for the cloning of GC causing genes.

  15. SEM of canine chromosomes: normal structure and the effects of whole-body irradiation

    International Nuclear Information System (INIS)

    Canine chromosomes are not only numerous (38 autosomal pairs), but they are small (compared to human chromosomes) and morphologically similar as well. Analysis of the canine karyotype by light microscopy (LM) of banded chromosomes is, thus, difficult, and the literature on the canine karyotype is scanty. In this study, we describe examination of chromosomes from normal and chronically irradiated dogs with the scanning electron microscope (SEM). Metaphase chromosomes from bone marrow aspirates were Giemsa-banded with either 0.025% trypsin alone or 0.1% trypsin preceded by 10% H2O2 and prepared for SEM. Examination of chromosomes from normal dogs revealed cylindrical chromosome profiles with well-defined chromatids and centromeres. The chromosome arms were consistently marked by periodic grooves that had complementary structures on sister chromatids and may represent the trypsin-sensitive chromatic regions. The quality of the preservation varied from preparation to preparation and depended on the concentration and time of trypsin treatment. Chromosomes from irradiated dogs revealed translocations, deletions, and gaps. We conclude that SEM produces images superior to LM images of canine chromosomes; SEM images can be used not only to identify individual chromosomes, but also to identify genetic lesions in the chromosomes of chronically irradiated dogs. We further conclude that the two Giemsa-banding protocols used in the present study produced variable results, although 0.025% trypsin alone appeared to give better and more consistent results than 0.1% trypsin preceded by 10% H2O2

  16. Cbl-b inhibits P-gp transporter function by preventing its translocation into caveolae in multiple drug-resistant gastric and breast cancers

    OpenAIRE

    Zhang, Ye; Qu, Xiujuan; Teng, Yuee; Li, Zhi; Xu, Ling; Liu, Jing; MA, YANJU; Fan, Yibo; Li, Ce; Liu, Shizhou; Wang, Zhenning; Hu, Xuejun; Zhang, Jingdong; Liu, Yunpeng

    2015-01-01

    The transport function of P-glycoprotein (P-gp) requires its efficient localization to caveolae, a subset of lipid rafts, and disruption of caveolae suppresses P-gp transport function. However, the regulatory molecules involved in the translocation of P-gp into caveolae remain unknown. In the present study, we showed that c-Src dependent Caveolin-1 phosphorylation promoted the translocation of P-gp into caveolae, resulting in multidrug resistance in adriamycin resistant gastric cancer SGC7901...

  17. Translocation of 99mTc labelled bacteria after intestinal ischemia and reperfusion

    International Nuclear Information System (INIS)

    Ischemia and reperfusion of the small intestine disrupts gut barrier, causes bacterial translocation and activates inflammatory responses. An experimental study was planned to evaluate if 99mTc labelled Escherichia coli translocates to mesenteric lymph nodes, liver, spleen, lung and serum of rats submitted to mesenteric ischemia/reperfusion. Additionally, it was observed if the time of reperfusion influences the level of translocation. Forty male Wistar rats underwent 45 minutes of gut ischemia by occlusion of the superior mesenteric artery. The translocation of labelled bacteria to different organs and portal serum was determined in rats reperfused for 30 minutes, 24 hours, sham(S) and controls(C), using radioactivity count and colony forming units/g (CFU). All the organs from rats observed for 24 hours after reperfusion had higher levels of radioactivity and positive cultures (CFU) than did the organs of rats reperfused for 30 minutes, C and S, except in the spleen (p<0,01). The results of this study indicated that intestinal ischemia/reperfusion led to bacterial translocation, mostly after 24 hours of reperfusion. (author)

  18. 普通小麦-簇毛麦易位系T6BS·6BL-2VS的选育%Identification of Triticum aestivum-Haynaldia villosa Translocation Line T6BS·6BL-2VS

    Institute of Scientific and Technical Information of China (English)

    陈全战; 张边江; 周峰; 吴梅; 李华春

    2008-01-01

    [Objective] The aim of experiment was to provide a new germplasm for wheat breeding by further using desirable genes in 2V chromosome of Haynaldia villosa.[Method] Through hybridization between common wheat(Triticum aestivum)-Haynaldia villosa disomic substitution line and common wheat Nonglin26-3C chromosome of Aegilops triuncialis disomic addition line, the analysis methods such as chromosome C-banding, genomic in situ hybridization and molecular marker technique were comprehensively applied and combined characters investigation.[Result] The wheat-Haynaldia villosa translocation line(T6BS·6BL-2VS) was selected from hybrid progenies to conduct characters investigation,which found some bristles on glume ridge of T6BS·6BL-2VS.[Conclusion] The translocation line induced by gametocidal chromosome was a small segment translocation line and the gene of bristle on glume ridge of Haynaldia villosa was located between the middle and the terminal of 2VS.

  19. A boy with 9p+ resulting from maternal t(4;9) translocation: a case report

    Institute of Scientific and Technical Information of China (English)

    2007-01-01

    Increasing cases of 9p syndrome have been reported since the first description in 1970.In the present case, a extra segment of the end of chromosome 9p resulting from a maternally inherited translocation t(4;9)(q31;p24) was described in a liveborn boy with mental retardation and multiple congenital anomalies. The extra part of chromosome 9p includes segment of the chromosome region 4q31→qter of his mother but deletes a small segment 9p24→pter. To our knowledge, this is the first case described in a liveborn child. This paper also includes a review and tabulation of clinical features seen in the 34 reported cases. The new case had most characteristics reported cases besides worried-face, fat and abnormal lower digestion tract, which is a modification and double expansion of the previous summarization on 9p syndrome.

  20. Clinicopathologic Study of Chromosomal Aberrations in Ocular Adnexal Lymphomas of Korean Patients

    OpenAIRE

    Choung, Hokyung; Kim, Young A; Kim, Namju; Lee, Min Joung; Khwarg, Sang In

    2015-01-01

    Purpose The incidence and clinical correlation of MALT1 translocation and chromosomal numerical aberrations in Korean patients with ocular adnexal mucosa associated lymphoid tissue (MALT) lymphoma have not yet been reported. We investigated the incidence and clinicopathologic relationship of these chromosomal aberrations in ocular adnexal MALT lymphomas in a Korean population. Methods Thirty ocular adnexal MALT lymphomas were investigated for the t(11;18) API2-MALT1, t(14;18) IgH-MALT1 transl...

  1. A Williams syndrome patient with a familial t(6;7) translocation and deletion of the elastin gene

    Energy Technology Data Exchange (ETDEWEB)

    Pober, B.R.; Gibson, L.H.; Yang-Feng, T.L. [Yale Univ. School of Medicine, New Haven, CT (United States)] [and others

    1994-09-01

    Discovery of a {open_quotes}balanced{close_quotes} reciprocal translocation [46,XX,t(6;7)(q11.2;q11.23)] on routine amniocentesis prompted clinical and cytogenetic study of additional family members. The same t(6;7) translocation was found in the clincally normal father and in a sibling with Williams syndrome (WS). WS had been diagnosed previously according to clinical criteria including distinctive facial features, supravalvar aortic stenosis requiring surgical repair, dental abnormalties and developmental delay. A clinically normal female was delivered and the translocation was confirmed with a cord blood specimen. Hemizygosity for the gene, elastin, (which has been mapped to the chromosome 7 translocation breakpoint, 7q11.23, in this family) appears to be a cause of WS. We therefore investigated whether the t(6;7) in the phenotypically normal father represented more than a simple reciprocal translocation. FISH using a chromosome 7 specific library revealed no differences between the cytogenetically identical, yet phenotypically distinct, father and son. Hybridization with a cosmid MR127D4 containing elastin sequence showed that the WS patient was missing one allele from the derivative chromosome 7 whereas both his mother and father had two copies of the elastin gene. This family indicates that the de novo loss of one copy of the elastin gene produces the recognizable phenotype of Williams syndrome. Molecular characterization (with additional probes) of the extent of this de novo deletion near the translocation breakpoint is in progress. This information will be valuable for defining the WS-critical region and will lead to a better understanding of the molecular basis for WS.

  2. Chromosomal mechanisms in murine radiation acute myeloid leukemogenesis

    International Nuclear Information System (INIS)

    Chromosome 2 abnormalities, particularly interstitial deletions, characterize murine radiation-induced acute myeloid leukaemias (AMLs). Here, G-band analyses in CBA/H mice of early (1-6 month) post 3 Gy X-radiation events in bone marrow cells in vivo and karyotype evolution in one unusual AML are presented. The early event analysis showed that all irradiated animals carry chromosome 2 abnormalities, that chromosome 2 abnormalities are more frequent than expected and that interstitial deletions are more common in chromosome 2 than in the remainder of the genome. On presentation AML case N122 carried a t(2; 11) terminal translocation which, with passaging, evolved into a del2(C3F3). Therefore two pathways in leukaemogenesis might exist, one deletion-driven, the other terminal tranlocation-driven involving interstitial genes and terminal genes respectively of chromosome 2. As all irradiated individuals carried chromosome 2 abnormalities, the formation of these aberrations does not determine individual leukaemogenic sensitivity as only 20-25% of animals would be expected to develop AML. Similar lines of argument suggest that chromosome 2 abnormalities are necessary but not sufficient for radiation leukaemogenesis in CBA/H nor are they rate limiting in leukaemogenesis. (Author)

  3. Chromosomal mechanisms in murine radiation acute myeloid leukemogenesis

    Energy Technology Data Exchange (ETDEWEB)

    Bouffler, S.D.; Breckon, G.; Cox, R. [National Radiological Protection Board, Chilton (United Kingdom)

    1996-04-01

    Chromosome 2 abnormalities, particularly interstitial deletions, characterize murine radiation-induced acute myeloid leukaemias (AMLs). Here, G-band analyses in CBA/H mice of early (1-6 month) post 3 Gy X-radiation events in bone marrow cells in vivo and karyotype evolution in one unusual AML are presented. The early event analysis showed that all irradiated animals carry chromosome 2 abnormalities, that chromosome 2 abnormalities are more frequent than expected and that interstitial deletions are more common in chromosome 2 than in the remainder of the genome. On presentation AML case N122 carried a t(2; 11) terminal translocation which, with passaging, evolved into a del2(C3F3). Therefore two pathways in leukaemogenesis might exist, one deletion-driven, the other terminal tranlocation-driven involving interstitial genes and terminal genes respectively of chromosome 2. As all irradiated individuals carried chromosome 2 abnormalities, the formation of these aberrations does not determine individual leukaemogenic sensitivity as only 20-25% of animals would be expected to develop AML. Similar lines of argument suggest that chromosome 2 abnormalities are necessary but not sufficient for radiation leukaemogenesis in CBA/H nor are they rate limiting in leukaemogenesis. (Author).

  4. Functional reconstitution of bacterial Tat translocation in vitro

    OpenAIRE

    Yahr, Timothy L.; Wickner, William T.

    2001-01-01

    The Tat (twin-arginine translocation) pathway is a Sec-independent mechanism for translocating folded preproteins across or into the inner membrane of Escherichia coli. To study Tat translocation, we sought an in vitro translocation assay using purified inner membrane vesicles and in vitro synthesized substrate protein. While membrane vesicles derived from wild-type cells translocate the Sec-dependent substrate proOmpA, translocation of a Tat-dependent substrate, SufI, was not detected. We es...

  5. Effects of the Triticum aestivum-Haynaldia villosa T4DL·4VS Translocation Chromosome on the Agronomic Important Traits in Different Backgrounds%小麦-簇毛麦T4DL·4VS易位染色体对小麦农艺性状的影响

    Institute of Scientific and Technical Information of China (English)

    王海燕; 赵仁慧; 袁春霞; 张守忠; 肖进; 王秀娥

    2012-01-01

    It has been found that the T4DL·4VS translocation can be used in wheat breeding programs as a donor of resistance to wheat yellow mosaic bymovirus and take-all disease and can be used in wheat breeding for disease resistance.In order to further elucidate the potential application of this translocation line,five F2 population derived from crosses of the T4DL·4VS with 5 wheat varieties from different ecological wheat grown areas were used to assess the effects of the T4DL·4VS translocation on agronomic characters in different genetic backgrounds.It was found for all the used cross combinations,there was no significant difference between T4DL·4VS lines and non-T4DL·4VS lines on the number of effective spikes,the total spikelets per spike and the number of grains per spike.Positive effect of the T4DL·4VS lines on plant height was found in the background of Zheng 9023,Zhou 9823 and Mianyang 26,while negative effects were found on thousand-kernel weight in the background of Zhou 9823,Shi 4185 and Yangmai 15,on spike length in the background of Zheng 9023,Zhou 9823,and Yangmai 15,on the flag leaf area in the background of Yangmai 15.These results showed that significant variation occurred for some traits among different crosses,indicating that parent selection could lead to further improvements.%为了进一步探究小麦-簇毛麦T4DL·4VS易位系的育种利用价值,选用以T4DL·4VS易位系为亲本组配的5个F2群体为试验材料,研究了T4DL·4VS易位染色体在不同遗传背景中对小麦农艺性状的影响。结果表明,在所有组合中,T4DL·4VS易位染色体对有效穗数、每穗小穗数和穗粒数无明显影响;在与郑麦9023、周9823和绵阳26配置的3个组合中,T4DL·4VS易位染色体对株高表现出一定的正向效应;在与周9823、石4185和扬麦15配置的3个组合中,T4DL·4VS易位染色体对千粒重表现出负向效应;在与郑麦9023、周9823和扬麦15配置的3个组合中,T4DL·4VS易位染色体

  6. Obtaining and Genetic Stability of Chinese Cabbage-Cabbage Translocation Lines with Fragment of Cabbage Chromosome 8%添加甘蓝8号染色体片段的大白菜易位系的获得及其遗传稳定性分析

    Institute of Scientific and Technical Information of China (English)

    闫珍臣; 王彦华; 轩淑欣; 赵建军; 申书兴

    2015-01-01

    Chinese Cabbage-Cabbage alien addition line AC8 was radiated to obtain M1 plants.Doubled haploid lines were further obtained by microcspores culture for backcross descendants of M1.Two hundred and eighty-six specific InDel molecular markers linked to cabbage linkage group were used for detecting the DH lines.Combining with cytology observation,the translocation line AT8-1 of Chinese cabbage was identified.AT8-1 was selfed,backcrossed and hydridized,then their offsprings were identified by the specific makers.Results showed that the translocation fragment form cabbage was instability,the ratio of keeping entire exogenous fragment in selfing progenies,one backcross progeny and two hybridization progenies were 61.1%,26.3%,24.2% and 30.0%,respectively.In all progeny individuals,none translocation plant was found with smaller fragments than in AT8-1.%为创建大白菜—结球甘蓝易位系,以大白菜—结球甘蓝8号单体异附加系(ACs)为材料,对其摘去已开放花朵的花枝进行60Co-γ辐射,然后取新开放花朵花粉授与AC8,获得M1植株,再将M1与AC8亲本大白菜‘85-1’进行回交,对其回交后代进行小孢子离体培养获得DH系.利用286个结球甘蓝相对于大白菜特异的InDel分子标记对DH系植株进行鉴定,结合细胞学观察获得添加甘蓝8号染色体片段的大白菜易位系‘AT8-1’.对易位系‘AT8-1’进行自交,与‘85-1’回交,与大白菜高代自交系‘14-28’和‘14-36’杂交,对其后代进行InDel分子标记鉴定,结果表明该易位系中甘蓝染色体片段不稳定,该片段完整保留率在自交后代群体为61.1%,回交后代群体为26.3%,两个杂交后代群体分别为24.2%与30.0%.后代群体中均未见易位片段变小的植株.

  7. Simultaneous localization of MLL, AF4 and ENL genes in interphase nuclei by 3D-FISH: MLL translocation revisited

    Directory of Open Access Journals (Sweden)

    Sun Jian-Sheng

    2006-01-01

    Full Text Available Abstract Background Haematological cancer is characterised by chromosomal translocation (e.g. MLL translocation in acute leukaemia and two models have been proposed to explain the origins of recurrent reciprocal translocation. The first, established from pairs of translocated genes (such as BCR and ABL, considers the spatial proximity of loci in interphase nuclei (static "contact first" model. The second model is based on the dynamics of double strand break ends during repair processes (dynamic "breakage first" model. Since the MLL gene involved in 11q23 translocation has more than 40 partners, the study of the relative positions of the MLL gene with both the most frequent partner gene (AF4 and a less frequent partner gene (ENL, should elucidate the MLL translocation mechanism. Methods Using triple labeling 3D FISH experiments, we have determined the relative positions of MLL, AF4 and ENL genes, in two lymphoblastic and two myeloid human cell lines. Results In all cell lines, the ENL gene is significantly closer to the MLL gene than the AF4 gene (with P value loci would indicate a greater probability of the occurrence of t(11;19(q23;p13.3 compared to t(4;11(q21;q23. However this is in contradiction to the epidemiology of 11q23 translocation. Conclusion The simultaneous multi-probe hybridization in 3D-FISH is a new approach in addressing the correlation between spatial proximity and occurrence of translocation. Our observations are not consistent with the static "contact first" model of translocation. The recently proposed dynamic "breakage first" model offers an attractive alternative explanation.

  8. Association of a Chromosomal Rearrangement Event with Mouse Posterior Polymorphous Corneal Dystrophy and Alterations in Csrp2bp, Dzank1, and Ovol2 Gene Expression.

    Directory of Open Access Journals (Sweden)

    Anna L Shen

    Full Text Available We have previously described a mouse model of human posterior polymorphous corneal dystrophy (PPCD and localized the causative mutation to a 6.2 Mbp region of chromosome 2, termed Ppcd1. We now show that the gene rearrangement linked to mouse Ppcd1 is a 3.9 Mbp chromosomal inversion flanked by 81 Kbp and 542 bp deletions. This recombination event leads to deletion of Csrp2bp Exons 8 through 11, Dzank1 Exons 20 and 21, and the pseudogene Znf133. In addition, we identified translocation of novel downstream sequences to positions adjacent to Csrp2bp Exon 7 and Dzank1 Exon 20. Twelve novel fusion transcripts involving Csrp2bp or Dzank1 linked to downstream sequences have been identified. Eight are expressed at detectable levels in PPCD1 but not wildtype eyes. Upregulation of two Csrp2bp fusion transcripts, as well as upregulation of the adjacent gene, Ovol2, was observed. Absence of the PPCD1 phenotype in animals haploinsufficient for Csrp2bp or both Csrp2bp and Dzank1 rules out haploinsufficiency of these genes as a cause of mouse PPCD1. Complementation experiments confirm that PPCD1 embryonic lethality is due to disruption of Csrp2bp expression. The ocular expression pattern of Csrp2bp is consistent with a role for this protein in corneal development and pathogenesis of PPCD1.

  9. Karyotype evolution in Rhinolophus bats (Rhinolophidae, Chiroptera) illuminated by cross-species chromosome painting and G-banding comparison.

    Science.gov (United States)

    Mao, Xiuguang; Nie, Wenhui; Wang, Jinhuan; Su, Weiting; Ao, Lei; Feng, Qing; Wang, Yingxiang; Volleth, Marianne; Yang, Fengtang

    2007-01-01

    Rhinolophus (Rhinolophidae) is the second most speciose genus in Chiroptera and has extensively diversified diploid chromosome numbers (from 2n = 28 to 62). In spite of many attempts to explore the karyotypic evolution of this genus, most studies have been based on conventional Giemsa staining rather than G-banding. Here we have made a whole set of chromosome-specific painting probes from flow-sorted chromosomes of Aselliscus stoliczkanus (Hipposideridae). These probes have been utilized to establish the first genome-wide homology maps among six Rhinolophus species with four different diploid chromosome numbers (2n = 36, 44, 58, and 62) and three species from other families: Rousettus leschenaulti (2n = 36, Pteropodidae), Hipposideros larvatus (2n = 32, Hipposideridae), and Myotis altarium (2n = 44, Vespertilionidae) by fluorescence in situ hybridization. To facilitate integration with published maps, human paints were also hybridized to A. stoliczkanus chromosomes. Our painting results substantiate the wide occurrence of whole-chromosome arm conservation in Rhinolophus bats and suggest that Robertsonian translocations of different combinations account for their karyotype differences. Parsimony analysis using chromosomal characters has provided some new insights into the Rhinolophus ancestral karyotype and phylogenetic relationships among these Rhinolophus species so far studied. In addition to Robertsonian translocations, our results suggest that whole-arm (reciprocal) translocations involving multiple non-homologous chromosomes as well could have been involved in the karyotypic evolution within Rhinolophus, in particular those bats with low and medium diploid numbers. PMID:17899409

  10. Chimpanzee chromosome 12 is homologous to human chromosome 2q

    Energy Technology Data Exchange (ETDEWEB)

    Sun, N. C.; Sun, C. R.Y.; Ho, T.

    1977-01-01

    Most of the 46 human chromosomes find their counterparts in the 48 chimpanzee chromosomes except for chromosome 2 which has been hypothesized to have been derived from a centric fusion of two chimpanzee acrocentric chromosomes. These two chromosomes correspond to the human chromosomes 2p and 2g. This conclusion is based primarily on chromosome banding techniques, and the somatic cell hybridization technique has also been used. (HLW)

  11. TA3 - Dosimetry and instrumentation supply of the M-Fish technique to the Fish-3 painting technique for analysing translocations: A radiotherapy-treated patient study

    Energy Technology Data Exchange (ETDEWEB)

    Pouzoulet, F.; Roch-Lefevre, S.; Giraudet, A.L.; Vaurijoux, A.; Voisin, P.A.; Buard, V.; Delbos, M.; Voisin, Ph.; Roy, L. [Institut de Radioprotection et de Surete Nucleaire, Lab. de Dosimetrie Biologique, 92 - Fontenay aux Roses (France); Bourhis, J. [Laboratoire UPRES EA 27-10, Radiosensibilite des Tumeurs et Tissus sains, PR1, 94 - Villejuif (France)

    2006-07-01

    Purpose: Currently, the chromosome translocation study is the best method to estimate the dose of an old radiation exposure. Fluorescent In Situ Hybridization (F.I.S.H.) technique allows an easy detection of this kind of aberrations. However, as only a few number of chromosomes is usually painted, some bias could skew the result. To evaluate the advantage of using full genome staining (M-F.I.S.H. technique) compared with three chromosomes labelling (F.I.S.H.-3 painting), we compared translocation yields in radiotherapy treated patients. Methods: Chromosome aberration analyses were performed on peripheral blood lymphocyte cultures of two patients treated for a throat cancer by radiotherapy. Blood samples were obtained, before, along the treatment and six or four months later. For each sample, a dicentrics analysis was performed together with translocation analysis either with F.I.S.H.-3 painting or M-F.I.S.H.. Results: By confronting results from the F.I.S.H.-3 painting technique and the M-F.I.S.H. technique, significant differences were revealed. The translocations yield seemed to be stable with the F.I.S.H.-3 painting technique whereas it is not the case with the M-F.I.S.H. technique. This difference in results was explained by the bias induced by F.I.S.H.-3 Painting technique in the visualisation of complex aberrations. Furthermore, we found the presence of a clone bearing a translocation involving a painted chromosome. Conclusions: According to the potential bias of F.I.S.H.-3 painting on translocations study, the M-F.I.S.H. technique should provide more precise and reproducible results. Because of its more difficult implement, it seems hardly applicable to retrospective dosimetry instead of F.I.S.H.-3 painting technique. (authors)

  12. TA3 - Dosimetry and instrumentation supply of the M-Fish technique to the Fish-3 painting technique for analysing translocations: A radiotherapy-treated patient study

    International Nuclear Information System (INIS)

    Purpose: Currently, the chromosome translocation study is the best method to estimate the dose of an old radiation exposure. Fluorescent In Situ Hybridization (F.I.S.H.) technique allows an easy detection of this kind of aberrations. However, as only a few number of chromosomes is usually painted, some bias could skew the result. To evaluate the advantage of using full genome staining (M-F.I.S.H. technique) compared with three chromosomes labelling (F.I.S.H.-3 painting), we compared translocation yields in radiotherapy treated patients. Methods: Chromosome aberration analyses were performed on peripheral blood lymphocyte cultures of two patients treated for a throat cancer by radiotherapy. Blood samples were obtained, before, along the treatment and six or four months later. For each sample, a dicentrics analysis was performed together with translocation analysis either with F.I.S.H.-3 painting or M-F.I.S.H.. Results: By confronting results from the F.I.S.H.-3 painting technique and the M-F.I.S.H. technique, significant differences were revealed. The translocations yield seemed to be stable with the F.I.S.H.-3 painting technique whereas it is not the case with the M-F.I.S.H. technique. This difference in results was explained by the bias induced by F.I.S.H.-3 Painting technique in the visualisation of complex aberrations. Furthermore, we found the presence of a clone bearing a translocation involving a painted chromosome. Conclusions: According to the potential bias of F.I.S.H.-3 painting on translocations study, the M-F.I.S.H. technique should provide more precise and reproducible results. Because of its more difficult implement, it seems hardly applicable to retrospective dosimetry instead of F.I.S.H.-3 painting technique. (authors)

  13. Understanding disruptions in tokamaks

    International Nuclear Information System (INIS)

    This paper describes progress achieved since 2007 in understanding disruptions in tokamaks, when the effect of plasma current sharing with the wall was introduced into theory. As a result, the toroidal asymmetry of the plasma current measurements during vertical disruption event (VDE) on the Joint European Torus was explained. A new kind of plasma equilibria and mode coupling was introduced into theory, which can explain the duration of the external kink 1/1 mode during VDE. The paper presents first results of numerical simulations using a free boundary plasma model, relevant to disruptions.

  14. Disrupting Vestibular Activity Disrupts Body Ownership.

    Science.gov (United States)

    Hoover, Adria E N; Harris, Laurence R

    2015-01-01

    People are more sensitive at detecting asynchrony between a self-generated movement and visual feedback concerning that movement when the movement is viewed from a first-person perspective. We call this the 'self-advantage' and interpret it as an objective measure of self. Here we ask if disruption of the vestibular system in healthy individuals affects the self-advantage. Participants performed finger movements while viewing their hand in a first-person ('self') or third-person ('other') perspective and indicated which of two periods (one with minimum delay and the other with an added delay of 33-264 ms) was delayed. Their sensitivity to the delay was calculated from the psychometric functions obtained. During the testing, disruptive galvanic vestibular stimulation (GVS) was applied in five-minute blocks interleaved with five minutes of no stimulation for a total of 40 min. We confirmed the self-advantage under no stimulation (31 ms). In the presence of disruptive GVS this advantage disappeared and there was no longer a difference in performance between perspectives. The threshold delay for the 'other' perspective was not affected by the GVS. These results suggest that an intact vestibular signal is required to distinguish 'self' from 'other' and to maintain a sense of body ownership. PMID:26595957

  15. Structural Changes of 2V Chromosome of Haynaldia villosa Induced by Gametocidal Chromosome 3C of Aegilops triuncialis

    Institute of Scientific and Technical Information of China (English)

    CHEN Quan-zhan; CAO Ai-zhong; QI Zeng-jun; ZHANG Wei; CHEN Pei-du

    2008-01-01

    Haynaldia villosa (2n =2X = 14, VV), a relative of wheat, plays important roles in wheat improvement mainly owing to its disease resistance. Powdery mildew resistance gene Pm21 has been successfully transferred into wheat by Cytogenetie Institute, Nanjing Agricultural University, China, and is widely used in the current wheat breeding programs. In this research, our objective is to further transfer and utilize the beneficial genes such as eye-spot resistance, yellow rust resistance, and gene of the tufted bristles on the glume ridge (a remarkable morphology) mapped on 2V of Haynaldia villosa. A disomic addition line with gametocidal chromosome 3C ofAegilops triuncialis added in Norin-26 was crossed to the wheat-H, villosa disomic substitution 2V(2D) and the hybrid F1 was then self-crossed. Chromosome C-banding, genomie in situ hybridization (GISH), and meiotic analysis in combination with molecular markers were applied to detect the chromosome variations derived from hybrids F2 and F3. To date, four translocations including one small segmental translocation T6BS.6BL-2VS, two whole arm translocations (preliminarily designed as T3DS·2VL and T2VS·7DL) and one intercalary translocation T2VS·2VL-W-2VL, one deletion Del. 2VS·2VL-, one monotelosomic Mt2VS, and one iso- chromosome 2VS·2VS line have been developed and characterized. One wheat SSR marker Xwmc25-120 tagging 2VS and one wheat STS marker NAU/STSBCD135-1 (2BL) tagging 2VL were successfully used to confirm the alien chromosome segments involved in the seven lines. The tufted bristles on the glume ridge appeared in lines T2VS·7DL, Mt2VS, 2VS·2VS as well as the parent DS2V(2D), whereas in T3DS·2VL, this trait did not appear. The gene controlling the tufted bristles was located on 2VS. Gametocidal chromosome 3C of Aegilops triuncialis could successfully induce chromosome 2V structural changes.

  16. Chromosomal replicons of higher plants

    Energy Technology Data Exchange (ETDEWEB)

    Van' t Hof, J.

    1987-03-16

    This brief discussion of replicons of higher plants offers a glimpse into the properties of chromosomal DNA replication. It gives evidence that the S phase of unrelated plant species is comprised of temporally ordered replicon families that increase in number with genome size. This orderly process, which assures a normal inheritance of genetic material to recipient daughter cells, is maintained at the level of replicon clusters by two mutually exclusive mechanisms, one involving the rate at which single replicons replicate their allotment of DNA, and another by means of the tempo-pause. The same two mechanisms are used by cells to alter the pattern of chromosomal DNA replication just prior to and during normal development. Both mechanisms are genetically determined and produce genetic effects when disturbed of disrupted by additional non-conforming DNAs. Further insight into how these two mechanisms operate requires more molecular information about the nature of replicons and the factors that govern when a replicon family replicates. Plant material is a rich and ideal source for this information just awaiting exploitation. 63 refs.

  17. Chromosomal replicons of higher plants

    International Nuclear Information System (INIS)

    This brief discussion of replicons of higher plants offers a glimpse into the properties of chromosomal DNA replication. It gives evidence that the S phase of unrelated plant species is comprised of temporally ordered replicon families that increase in number with genome size. This orderly process, which assures a normal inheritance of genetic material to recipient daughter cells, is maintained at the level of replicon clusters by two mutually exclusive mechanisms, one involving the rate at which single replicons replicate their allotment of DNA, and another by means of the tempo-pause. The same two mechanisms are used by cells to alter the pattern of chromosomal DNA replication just prior to and during normal development. Both mechanisms are genetically determined and produce genetic effects when disturbed of disrupted by additional non-conforming DNAs. Further insight into how these two mechanisms operate requires more molecular information about the nature of replicons and the factors that govern when a replicon family replicates. Plant material is a rich and ideal source for this information just awaiting exploitation. 63 refs

  18. Changes in Nuclear Orientation Patterns of Chromosome 11 during Mouse Plasmacytoma Development

    Directory of Open Access Journals (Sweden)

    Ann-Kristin Schmälter

    2015-10-01

    Full Text Available Studying changes in nuclear architecture is a unique approach toward the understanding of nuclear remodeling during tumor development. One aspect of nuclear architecture is the orientation of chromosomes in the three-dimensional nuclear space. We studied mouse chromosome 11 in lymphocytes of [T38HxBALB/c]N mice with a reciprocal translocation between chromosome X and 11 (T38HT(X;11 exhibiting a long chromosome T(11;X and a short chromosome T(X;11 and in fast-onset plasmacytomas (PCTs induced in the same strain. We determined the three-dimensional orientation of chromosome 11 using a mouse chromosome 11 specific multicolor banding probe. We also examined the nuclear position of the small translocation chromosome T(X;11 which contains cytoband 11E2 and parts of E1. Chromosomes can point either with their centromeric or with their telomeric end toward the nuclear center or periphery, or their position is found in parallel to the nuclear border. In T38HT(X;11 nuclei, the most frequently observed orientation pattern was with both chromosomes 11 in parallel to the nuclear border (“PP”. PCT cells showed nuclei with two or more copies of chromosome 11. In PCTs, the most frequent orientation pattern was with one chromosome in parallel and the other pointing with its centromeric end toward the nuclear periphery (“CP”. There is a significant difference between the orientation patterns observed in T38HT(X;11 and in PCT nuclei (P < .0001.

  19. DNA Repair Defects and Chromosomal Aberrations

    Science.gov (United States)

    Hada, Megumi; George, K. A.; Huff, J. L.; Pluth, J. M.; Cucinotta, F. A.

    2009-01-01

    Yields of chromosome aberrations were assessed in cells deficient in DNA doublestrand break (DSB) repair, after exposure to acute or to low-dose-rate (0.018 Gy/hr) gamma rays or acute high LET iron nuclei. We studied several cell lines including fibroblasts deficient in ATM (ataxia telangiectasia mutated; product of the gene that is mutated in ataxia telangiectasia patients) or NBS (nibrin; product of the gene mutated in the Nijmegen breakage syndrome), and gliomablastoma cells that are proficient or lacking in DNA-dependent protein kinase (DNA-PK) activity. Chromosomes were analyzed using the fluorescence in situ hybridization (FISH) chromosome painting method in cells at the first division post irradiation, and chromosome aberrations were identified as either simple exchanges (translocations and dicentrics) or complex exchanges (involving >2 breaks in 2 or more chromosomes). Gamma irradiation induced greater yields of both simple and complex exchanges in the DSB repair-defective cells than in the normal cells. The quadratic dose-response terms for both simple and complex chromosome exchanges were significantly higher for the ATM- and NBS-deficient lines than for normal fibroblasts. However, in the NBS cells the linear dose-response term was significantly higher only for simple exchanges. The large increases in the quadratic dose-response terms in these repair-defective cell lines points the importance of the functions of ATM and NBS in chromatin modifications to facilitate correct DSB repair and minimize the formation of aberrations. The differences found between ATM- and NBS-deficient cells at low doses suggest that important questions should with regard to applying observations of radiation sensitivity at high dose to low-dose exposures. For aberrations induced by iron nuclei, regression models preferred purely linear dose responses for simple exchanges and quadratic dose responses for complex exchanges. Relative biological effectiveness (RBE) factors of all of

  20. Chromosomal aberrations in ISS crew members

    Science.gov (United States)

    Johannes, Christian; Goedecke, Wolfgang; Antonopoulos, Alexandra

    2012-07-01

    High energy radiation is a major risk factor in manned space missions. Astronauts and cosmonauts are exposed to ionising radiations of cosmic and solar origin, while on the Earth's surface people are well protected by the atmosphere and a deflecting magnetic field. There are now data available describing the dose and the quality of ionising radiation on-board of the International Space Station (ISS). Nonetheless, the effect of increased radiation dose on mutation rates of ISS crew members are hard to predict. Therefore, direct measurements of mutation rates are required in order to better estimate the radiation risk for longer duration missions. The analysis of chromosomal aberrations in peripheral blood lymphocytes is a well established method to measure radiation-induced mutations. We present data of chromosome aberration analyses from lymphocyte metaphase spreads of ISS crew members participating in short term (10-14 days) or long term (around 6 months) missions. From each subject we received two blood samples. The first sample was drawn about 10 days before launch and a second one within 3 days after return from flight. From lymphocyte cultures metaphase plates were prepared on glass slides. Giemsa stained and in situ hybridised metaphases were scored for chromosome changes in pre-flight and post-flight blood samples and the mutation rates were compared. Results obtained in chromosomal studies on long-term flight crew members showed pronounced inter-individual differences in the response to elevated radiation levels. Overall slight but significant elevations of typical radiation induced aberrations, i.e., dicentric chromosomes and reciprocal translocations have been observed. Our data indicate no elevation of mutation rates due to short term stays on-board the ISS.