المؤلفون: Anderson, Alexander N, Roncaroli, Federico, Hodges, Angela, Deprez, Manuel, Turkheimer, Federico E

المصدر: Brain: a Journal of Neurology, 131 (Pt 2), 381-8 (2008)

مصطلحات موضوعية: Caudate Nucleus/metabolism, Chromosome Aberrations, Data Interpretation, Statistical, Disease Progression, Female, Gene Expression Regulation, Humans, Huntington Disease/blood/genetics/metabolism, Male, Mutation, Nerve Tissue Proteins/genetics, Nuclear Proteins/genetics, Oligonucleotide Array Sequence Analysis/methods, Transcription, Genetic, Human health sciences, Neurology, Sciences de la santé humaine, Neurologie

الوصف: Recent studies suggested that Huntington's disease is due to aberrant interactions between mutant huntingtin protein, transcription factors and transcriptional co-activators resulting in widespread transcriptional dysregulation. Mutant huntingtin also interacts with histone acetyltransferases, consequently interfering with the acetylation and deacetylation states of histones. Because histone modifications and chromatin structure coordinate the expression of gene clusters, we have applied a novel mathematical approach, Chromowave, to analyse microarray datasets of brain tissue and whole blood to understand how genomic regions are altered by the effects of mutated huntingtin on chromatin structure. Results show that, in samples of caudate and whole blood from Huntington's disease patients, transcription is indeed deregulated in large genomic regions in coordinated fashion, that transcription in these regions is associated with disease progression and that altered chromosomal clusters in the two tissues are remarkably similar. These findings support the notion of a common genome-wide mechanism of disruption of RNA transcription in the brain and periphery of Huntington's disease patients.

العلاقة: urn:issn:0006-8950; urn:issn:1460-2156

الوصول الحر: https://orbi.uliege.be/handle/2268/59364Test

المؤلفون: Put, Natalie, Konings, Peter, Rack, Katrina, Jamar, Mauricette, Van Roy, Nadine, Libouton, Jeanne-Marie, Vannuffel, Pascal, Sartenaer, Daniel, Ameye, Genevieve, Speleman, Frank, Herens, Christian, Poirel, Helene A, Moreau, Yves, Hagemeijer, Anne, Vandenberghe, Peter, Michaux, Lucienne

المصدر: Genes, Chromosomes and Cancer, 48 (10), 843-53 (2009)

مصطلحات موضوعية: Adult, Aged, Aged, 80 and over, Cell Proliferation/drug effects, Chromosome Aberrations, Chromosome Banding, Cytogenetics/methods, Data Interpretation, Statistical, Female, Humans, In Situ Hybridization, Fluorescence, Interleukin-2/pharmacology, Karyotyping/methods, Leukemia, Lymphocytic, Chronic, B-Cell/genetics/pathology, Male, Middle Aged, Oligonucleotides/pharmacology, Prospective Studies, Retrospective Studies, Translocation, Genetic, Tumor Cells, Cultured, Life sciences, Genetics & genetic processes, Sciences du vivant, Génétique & processus génétiques

الوصف: We performed a multicentric study to assess the impact of two different culture procedures on the detection of chromosomal abnormalities in 217 consecutive unselected cases with chronic lymphocytic leukemia (CLL) referred for routine analysis either at the time of diagnosis (n = 172) or during disease evolution (n = 45). Parallel cultures of peripheral blood or bone marrow were set up with the addition of either the conventional B-cell mitogen 12-O-tetradecanoyl-phorbol-13-acetate (TPA) or a combination of CpG oligonucleotide (CpG) and interleukin-2 (IL-2). Cytogenetic analyses were performed on both cultures. Clonal abnormalities were identified in 116 cases (53%). In 78 cases (36%), the aberrant clone was detected in both cultures. Among these, the percentages of aberrant metaphases were similar in both conditions in 17 cases, higher in the CpG/IL-2 culture in 43 cases, and higher in the TPA culture in 18 cases. Clonal aberrations were detected in only one culture, either in CpG/IL-2 or TPA in 33 (15%) and 5 (2%) cases, respectively. Taken together, abnormal karyotypes were observed in 51% with CpG/IL-2 and 38% with TPA (P < 0.0001). Application of FISH (n = 201) allowed the detection of abnormalities not visible by conventional cytogenetic analysis in 80 cases: del(13q) (n = 71), del(11q) (n = 5), +12 (n = 2), del(14q) (n = 1), and del(17p) (n = 1). In conclusion, our results confirm that CpG/IL-2 stimulation increases the detection rate of chromosomal abnormalities in CLL compared with TPA and that further improvement can be obtained by FISH. However, neither conventional cytogenetics nor FISH detected all aberrations, demonstrating the complementary nature of these techniques.

العلاقة: urn:issn:1045-2257; urn:issn:1098-2264

الوصول الحر: https://orbi.uliege.be/handle/2268/22263Test

المؤلفون: Duchesne, A., Manciaux, L., Gautier, M., Floriot, S., Grohs, C., Fritz, S., Druet, Tom, Schelcher, F., Ducos, A., Eggen, A.

المصدر: Animal Genetics, 39 (2), 112-20 (2008)

مصطلحات موضوعية: Animals, Autopsy, Cattle/genetics, Chromosome Aberrations/veterinary, Chromosome Mapping, Genes, Recessive, Goat Diseases/genetics, Goats/genetics, Male, Species Specificity, Syndrome, Life sciences, Veterinary medicine & animal health, Genetics & genetic processes, Animal production & animal husbandry, Sciences du vivant, Médecine vétérinaire & santé animale, Génétique & processus génétiques, Productions animales & zootechnie

الوصف: Caprine-like Generalized Hypoplasia Syndrome (or SHGC) is a new hereditary disorder described in the Montbeliarde breed. We report here the characterization of this new disease, based on the visual examination of animals affected by SHGC, and on physiological and biochemical studies undertaken on samples of both SHGC and normal animals. Biological samples for more than 150 affected calves and their parents have been collected over the past 4 years within the framework of the Bovine Genetic Disease Observatory. First, pedigree analyses showed that the mode of inheritance is most probably autosomal recessive. Then, a genome scan with 113 animals and 140 microsatellite markers revealed a single locus within a 35-cM region on bovine chromosome 13. Genotypes of 261 animals for 18 new microsatellite markers from the region confirmed the localization of the disorder to a 6-cM interval. Finally, based on the analysis of haplotypes in 463 Montbeliarde sires, we estimated the frequency of the SHGC mutated allele in the population and could propose a strategy for the systematic eradication of this disorder in the near future.

العلاقة: urn:issn:0268-9146; urn:issn:1365-2052

الوصول الحر: https://orbi.uliege.be/handle/2268/41382Test

المؤلفون: Bink, Karin, Haralambieva, Eugenia, Kremer, Marcus, Ott, German, Beham-Schmid, Christine, de Leval, Laurence, Peh, Suat Cheng, Laeng, Hubert R, Jutting, Uta, Hutzler, Peter, Quintanilla-Martinez, Leticia, Fend, Falko

المصدر: Haematologica, 93 (4), 623-6 (2008)

مصطلحات موضوعية: Adult, Aged, Aged, 80 and over, Aneuploidy, Chromosome Aberrations, Digestive System Neoplasms/genetics/pathology, Female, Genes, Immunoglobulin, Humans, Immunoglobulin Heavy Chains/genetics, In Situ Hybridization, Fluorescence, Interphase, Male, Middle Aged, Multiple Myeloma/genetics/pathology, Oncogene Proteins, Fusion/genetics, Plasmacytoma/genetics/pathology, Respiratory Tract Neoplasms/genetics/pathology, Sequence Deletion, Soft Tissue Neoplasms/genetics/pathology, Translocation, Genetic, Human health sciences, Hematology, Sciences de la santé humaine, Hématologie

الوصف: Primary extramedullary plasmacytoma is an indolent neoplasm that infrequently converts to multiple myeloma. Since cytogenetic data on extramedullary plasmacytoma are lacking, we studied 38 cases of this type of neoplasm by fluorescence in situ hybridization. Fourteen cases (37%) contained IGH breaks, including six with a t(4;14) translocation. No translocations t(11;14), t(14;16), t(8;14), nor breaks involving MALT1, BCL6 or FOXP1 were found. Loss of 13q (40%), as well as chromosomal gains (82%) were common. There was no correlation between chromosomal alterations and clinical features or local relapse. Cytogenetically, extramedullary plasmacytoma and multiple myeloma are closely related. However, the distribution of IGH translocation partners, with the notable absence of t(11;14), is different. Key words: extramedullary plasmacytoma, multiple myeloma, cytogenetics, IGH translocation, fluorescence in situ hybridization.

العلاقة: urn:issn:0390-6078; urn:issn:1592-8721

الوصول الحر: https://orbi.uliege.be/handle/2268/254140Test

المؤلفون: Herens, Christian, Baron, Frédéric, Croisiau, Christiane, Tassin, Françoise, Bours, Vincent

المصدر: Cancer Genetics and Cytogenetics, 147 (1), 78-80 (2003)

مصطلحات موضوعية: Antineoplastic Agents/therapeutic use, Chromosome Aberrations, Chromosome Deletion, Chromosome Mapping, Humans, Leukemia, Myelogenous, Chronic, BCR-ABL Positive/drug therapy/genetics, Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative/drug therapy/genetics, Male, Middle Aged, Piperazines/therapeutic use, Pyrimidines/therapeutic use, Life sciences, Genetics & genetic processes, Sciences du vivant, Génétique & processus génétiques

الوصف: Imatinib mesylate (tested as STI571), an abl kinase inhibitor, induces sustained, complete hematologic and cytogenetic responses in chronic myelocytic leukemia (CML) patients; however, emergence of clonal chromosomal aberrations in Philadelphia-negative (Ph-) cells during treatment has been reported. We describe two CML patients in chronic phase who presented with complete cytogenetic responses during imatinib mesylate therapy but developed new clonal chromosomal rearrangements in Ph- cells. The first patient presented with a duplication of chromosome 1, dup(1)(q21q42), and the second showed two new clonal aberrations consisting of inv(1)(q12q32) and del(7)(q22) in the same clone.

العلاقة: urn:issn:0165-4608; urn:issn:1873-4456

الوصول الحر: https://orbi.uliege.be/handle/2268/12976Test

المؤلفون: Voz, Marianne, Van de Ven, W. J., Kas, K.

المصدر: Advances in Dental Research, 14, 81-3. International & American Associations for Dental Research (2000).

مصطلحات موضوعية: Adenoma, Pleomorphic/genetics/pathology, Cell Transformation, Neoplastic/genetics, Chromosome Aberrations, Chromosomes, Human, Pair 12/genetics, Chromosomes, Human, Pair 8/genetics, DNA-Binding Proteins/genetics, Diploidy, Ectoderm/pathology, Endoderm/pathology, Gene Expression Regulation, Neoplastic/genetics, Humans, Karyotyping, Salivary Gland Neoplasms/genetics/pathology, Translocation, Genetic, Zinc Fingers/genetics, Life sciences :: Genetics & genetic processes, Sciences du vivant :: Génétique & processus génétiques

الوصف: Pleomorphic adenoma, or mixed tumor of the salivary glands, is a benign tumor originating from the major and minor salivary glands. Eighty-five percent of these tumors are found in the parotid gland, 10% in the minor (sublingual) salivary glands, and 5% in the submandibular gland. It is the most common type of salivary gland tumor, accounting for almost 50% of all neoplasms in these organs. In fact, after the first observation of recurrent loss of chromosome 22 in meningioma, this was the second type of benign tumor for which non-random chromosomal changes were reported. The rate of malignant change with the potential to metastasize has been reported to be only 2 to 3%, and only a few cases of metastasizing pleomorphic salivary gland adenomas have been described to date. The fact that these tumors arise in organs located in an ontogenetic transitional zone, a region where endoderm and ectoderm meet, might be one of the reasons for the often-problematic histopathological classification. This type of benign tumor has been cytogenetically very well-characterized, with several hundreds of tumors karyotyped. In addition to the cytogenetic subgroup with an apparently normal diploid stemline (making up approximately 30% of the cases), three major cytogenetic subgroups can be distinguished. In addition to a subgroup showing non-recurrent clonal abnormalities, another subgroup is various translocations involving 12q15. By far the largest cytogenetic subgroup, however, consists of tumors with chromosome 8 abnormalities, mainly showing translocations involving region 8q12. The most frequently encountered aberration in this group is a t(3;8)(p21;q12).

الوصول الحر: https://orbi.uliege.be/handle/2268/135394Test

المؤلفون: Astrom, A. K., Voz, Marianne, Kas, K., Roijer, E., Wedell, B., Mandahl, N., Van de Ven, W., Mark, J., Stenman, G.

المصدر: Cancer Research, 59(4), 918-23. Baltimore, MD: American Association for Cancer Research, Inc. (AACR) (1999).

مصطلحات موضوعية: Amino Acid Sequence, Artificial Gene Fusion, Base Sequence, Blotting, Northern, Chromosome Aberrations, Chromosomes, Human, Pair 8, DNA-Binding Proteins/genetics, Gene Expression Regulation, Neoplastic, Humans, Molecular Sequence Data, Reverse Transcriptase Polymerase Chain Reaction, Ribonucleases/pharmacology, Salivary Gland Neoplasms/genetics, Transcription Factors/genetics, Transcription Factors, General, Transcriptional Elongation Factors, Life sciences :: Genetics & genetic processes, Sciences du vivant :: Génétique & processus génétiques

الوصف: We have previously shown (K. Kas et al, Nat. Genet., 15: 170-174, 1997) that the developmentally regulated zinc finger gene pleomorphic adenoma gene 1 (PLAG1) is the target gene in 8q12 in pleomorphic adenomas of the salivary glands with t(3;8)(p21;q12) translocations. The t(3;8) results in promoter swapping between PLAG1 and the constitutively expressed gene for beta-catenin (CTNNB1), leading to activation of PLAG1 expression and reduced expression of CTNNB1. Here we have studied the expression of PLAG1 by Northern blot analysis in 47 primary benign and malignant human tumors with or without cytogenetic abnormalities of 8q12. Overexpression of PLAG1 was found in 23 tumors (49%). Thirteen of 17 pleomorphic adenomas with a normal karyotype and 5 of 10 with 12q13-15 abnormalities overexpressed PLAG1, which demonstrates that PLAG1 activation is a frequent event in adenomas irrespective of karyotype. In contrast, PLAG1 was overexpressed in only 2 of 11 malignant salivary gland tumors analyzed, which suggests that, at least in salivary gland tumors, PLAG1 activation preferentially occurs in benign tumors. PLAG1 over-expression was also found in three of nine mesenchymal tumors, i.e., in two uterine leiomyomas and one leiomyosarcoma. RNase protection, rapid amplification of 5'-cDNA ends (5'-RACE), and reverse transcription-PCR analyses of five adenomas with a normal karyotype revealed fusion transcripts in three tumors. Nucleotide sequence analysis of these showed that they contained fusions between PLAG1 and CTNNB1 (one case) or PLAG1 and a novel fusion partner gene, i.e., the gene encoding the transcription elongation factor SII (two cases). The fusions occurred in the 5' noncoding region of PLAG1, leading to exchange of regulatory control elements and, as a consequence, activation of PLAG1 gene expression. Because all of the cases had grossly normal karyotypes, the rearrangements must result from cryptic rearrangements. The results suggest that in addition to chromosomal translocations and cryptic rearrangements, PLAG1 may also be activated by mutations or indirect mechanisms. Our findings establish a conserved mechanism of PLAG1 activation in salivary gland tumors with and without 8q12 aberrations, which indicates that such activation is a frequent event in these tumors.

الوصول الحر: https://orbi.uliege.be/handle/2268/135347Test

المؤلفون: Thierens, H., Vral, A., de Ridder, L., Touil, N., Kirsch-Volders, M., LAMBERT, Vincent, Laurent, Christian

المصدر: International Journal of Radiation Biology, 75 (1), 23-34 (1999)

مصطلحات موضوعية: Adult, Chromosome Aberrations, Chromosomes, Human, Pair 2/radiation effects, Chromosomes, Human, Pair 4/radiation effects, Chromosomes, Human, Pair 8/radiation effects, Dose-Response Relationship, Radiation, Female, Fluorescent Dyes, Humans, In Situ Hybridization, Fluorescence, Laboratories/standards, Male, Micronucleus Tests/standards, Middle Aged, Occupational Exposure/standards, Human health sciences, General & internal medicine, Sciences de la santé humaine, Médecine générale & interne

الوصف: PURPOSE: The evaluation of different cytogenetic endpoints of radiation damage for the biomonitoring of contract workers temporarily employed at nuclear power plants. MATERIALS AND METHODS: Blood samples from six donors were irradiated in vitro with doses ranging from 0.1 to 2Gy 60Co gamma-rays. Compared were a conventional analysis for dicentrics, the conventional micronucleus (MN) assay, the centromere micronucleus assay using p82H and an alphaAllCen pancentromeric probe, and tricolour FISH with chromosome 2, 4 and 8 DNA probes for the scoring of translocations. RESULTS: Agreement in the number of MN between Giemsa-and propidium iodine fluorescence-stained preparations was obtained. The control samples showed higher centromere positivity for the MN after FISH with the p82H probe compared with the alphaAllCen probe. The MN results with both probes showed a slight but systematic increase in the number of centromere-positive MN with dose, indicating that radiation, although principally clastogenic, also has aneuploidogenic properties. The values of the genomic translocation frequency (FG) derived from the observed translocation frequencies were systematically higher than the dicentric yields. Comparing the sensitivity of the different methods with restriction of the scoring time to 1 day for biomonitoring purposes, the centromere micronucleus assay had the lowest dose detection limit (0.1 to 0.2 Gy). CONCLUSION: This study shows that at present only the centromere micronucleus assay can combine high sensitivity with a reasonable scoring time for the biomonitoring of relatively large populations.

العلاقة: urn:issn:0955-3002; urn:issn:1362-3095

الوصول الحر: https://orbi.uliege.be/handle/2268/186597Test

المؤلفون: Bourguignon, Jean-Pierre

المصدر: Gynécomasties de l'adolescent. Revue Médicale de Liège, 37(13-14), 508-511.Liège, BelgiumUniversité de Liège. Revue Médicale de Liège. (1982).

مصطلحات موضوعية: Adolescent, Gynecomastia, Human, Male, Sex chromosome aberrations, Human health sciences :: Endocrinology, metabolism & nutrition, Sciences de la santé humaine :: Endocrinologie, métabolisme & nutrition

الوصول الحر: https://orbi.uliege.be/handle/2268/258075Test

المؤلفون: Tomaszewski, M., Pypeć, K., Zgórska, A., Ziembińska-Buczyńska, A.

المصدر: Environmental Biotechnology.

مصطلحات موضوعية: chromosome aberrations, coke wastewater, MBR, micronucleus, phytotoxicity, RBC, aberracja chromosomowa, ścieki koksownicze, fitotoksyczność

الوصف: To investigate the effectiveness of a rotating biological contactor (RBC) and a two-stage membrane bioreactor (MBR) for the treatment of coke wastewater, samples were collected three times (Batches I, II, III) from the “Jadwiga” coke plant in Zabrze, Poland at two-week intervals. The wastewater was then diluted with tap water (1:3 ratio, wastewater : tap water) and then treated at retention times of 4.1 days (RBC) and 7 days (MBR). For phytotoxicity and genotoxicity tests, the wastewater was sampled from various points in the treatment systems and further diluted to produce a range of concentrations. In the phytotoxicity tests (growth inhibition), Lemna minor and Vicia faba were used. A low concentration of wastewater (6.25%) often stimulated growth. Higher concentrations, however, inhibited L. minor growth completely. These tests indicated that the MBR generally reduced growth inhibition more effectively than the RBC. In the genotoxicity tests (chromosome aberrations and micronuclei formation) root meristem cells of V. faba were examined. The genotoxicity of the different batches varied, and neither system was particularly effective for reducing genotoxicity. The results of this study indicate that, because its composition is so variable, coke wastewater should be constantly monitored. Also, because of its potentially high genotoxicity, the ecotoxicological characteristics of coke wastewater should be monitored in addition to basic indicators of wastewater quality, such as COD, BOD, and content of nitrogen compounds.

الوصول الحر: http://yadda.icm.edu.pl/baztech/element/bwmeta1.element.baztech-bb1492b8-253c-4d3c-a20b-2bcbd2f2987dTest