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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
MeSH Review

Chromosome Breakage

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Disease relevance of Chromosome Breakage


Psychiatry related information on Chromosome Breakage


High impact information on Chromosome Breakage


Chemical compound and disease context of Chromosome Breakage


Biological context of Chromosome Breakage

  • By spectral karyotypic analysis, we found that MYC even within one cell division cycle resulted in a several-magnitude increase in the frequency of chromosomal breaks and translocations in normal human cells [17].
  • We also examined the transcription of the first exon of the c-myc oncogene, which becomes separated from the second and third exon because of the chromosomal break involving the first intron [18].
  • This suggests that the chromosomal break, which is paternal in origin and which probably arose at meiosis, has been stabilized in vivo by the direct addition of the telomeric sequence [19].
  • We used this technique to analyze mutations in the regulatory region of the Drosophila engrailed gene and found that truncations reduce transcription to levels that depend both upon the tissue and upon the location of the chromosomal break [20].
  • In other APL patients who exhibit a 15;17 translocation, we found no genomic changes of the p53, suggesting that the p53 gene, which was recently mapped to the short arm of chromosome 17 in the human, is not structurally related to the typical chromosomal break point found in the long arm of chromosome 17 of APL patients [21].

Anatomical context of Chromosome Breakage


Gene context of Chromosome Breakage


Analytical, diagnostic and therapeutic context of Chromosome Breakage


  1. Inhibition of bacterial DNA replication by zinc mobilization during nitrosative stress. Schapiro, J.M., Libby, S.J., Fang, F.C. Proc. Natl. Acad. Sci. U.S.A. (2003) [Pubmed]
  2. The Fanconi anemia protein FANCF forms a nuclear complex with FANCA, FANCC and FANCG. de Winter, J.P., van der Weel, L., de Groot, J., Stone, S., Waisfisz, Q., Arwert, F., Scheper, R.J., Kruyt, F.A., Hoatlin, M.E., Joenje, H. Hum. Mol. Genet. (2000) [Pubmed]
  3. Novel NUP98-HOXC11 fusion gene resulted from a chromosomal break within exon 1 of HOXC11 in acute myeloid leukemia with t(11;12)(p15;q13). Taketani, T., Taki, T., Shibuya, N., Kikuchi, A., Hanada, R., Hayashi, Y. Cancer Res. (2002) [Pubmed]
  4. CDKN2A mutation and deletion status in thin and thick primary melanoma. Cachia, A.R., Indsto, J.O., McLaren, K.M., Mann, G.J., Arends, M.J. Clin. Cancer Res. (2000) [Pubmed]
  5. Effect of oxidants and antioxidants on chromosomal breakage in Fanconi anemia lymphocytes. Dallapiccola, B., Porfirio, B., Mokini, V., Alimena, G., Isacchi, G., Gandini, E. Hum. Genet. (1985) [Pubmed]
  6. Progressive vitiligo, mental retardation, facial dysmorphism, and urethral duplication without chromosomal breakage or immunodeficiency. Labrune, P., Assathiany, R., Penso, D., Odièvre, M. J. Med. Genet. (1992) [Pubmed]
  7. Inactivation of Fac in mice produces inducible chromosomal instability and reduced fertility reminiscent of Fanconi anaemia. Chen, M., Tomkins, D.J., Auerbach, W., McKerlie, C., Youssoufian, H., Liu, L., Gan, O., Carreau, M., Auerbach, A., Groves, T., Guidos, C.J., Freedman, M.H., Cross, J., Percy, D.H., Dick, J.E., Joyner, A.L., Buchwald, M. Nat. Genet. (1996) [Pubmed]
  8. Phosphorylation of SMC1 is a critical downstream event in the ATM-NBS1-BRCA1 pathway. Kitagawa, R., Bakkenist, C.J., McKinnon, P.J., Kastan, M.B. Genes Dev. (2004) [Pubmed]
  9. Development of B cells in scid mice with immunoglobulin transgenes: implications for the control of V(D)J recombination. Chang, Y., Bosma, G.C., Bosma, M.J. Immunity (1995) [Pubmed]
  10. BRCA2 is required for homology-directed repair of chromosomal breaks. Moynahan, M.E., Pierce, A.J., Jasin, M. Mol. Cell (2001) [Pubmed]
  11. Phenotypic correction of Fanconi anemia in human hematopoietic cells with a recombinant adeno-associated virus vector. Walsh, C.E., Nienhuis, A.W., Samulski, R.J., Brown, M.G., Miller, J.L., Young, N.S., Liu, J.M. J. Clin. Invest. (1994) [Pubmed]
  12. Mutagen sensitivity in patients with head and neck cancers: a biologic marker for risk of multiple primary malignancies. Schantz, S.P., Spitz, M.R., Hsu, T.C. J. Natl. Cancer Inst. (1990) [Pubmed]
  13. Extensive chromosomal breaks are induced by tamoxifen and estrogen in DNA repair-deficient cells. Mizutani, A., Okada, T., Shibutani, S., Sonoda, E., Hochegger, H., Nishigori, C., Miyachi, Y., Takeda, S., Yamazoe, M. Cancer Res. (2004) [Pubmed]
  14. Cells deficient in DNA polymerase beta are hypersensitive to alkylating agent-induced apoptosis and chromosomal breakage. Ochs, K., Sobol, R.W., Wilson, S.H., Kaina, B. Cancer Res. (1999) [Pubmed]
  15. Pathogenesis and management of acute promyelocytic leukemia. Warrell, R.P. Annu. Rev. Med. (1996) [Pubmed]
  16. Cyclophosphamide-induced oncogenic transformation, chromosomal breakage, and sister chromatid exchange following microsomal activation. Benedict, W.F., Banerjee, A., Venkatesan, N. Cancer Res. (1978) [Pubmed]
  17. Defective double-strand DNA break repair and chromosomal translocations by MYC overexpression. Karlsson, A., Deb-Basu, D., Cherry, A., Turner, S., Ford, J., Felsher, D.W. Proc. Natl. Acad. Sci. U.S.A. (2003) [Pubmed]
  18. Translocated c-myc oncogene of Burkitt lymphoma is transcribed in plasma cells and repressed in lymphoblastoid cells. Croce, C.M., Erikson, J., ar-Rushdi, A., Aden, D., Nishikura, K. Proc. Natl. Acad. Sci. U.S.A. (1984) [Pubmed]
  19. De novo truncation of chromosome 16p and healing with (TTAGGG)n in the alpha-thalassemia/mental retardation syndrome (ATR-16). Lamb, J., Harris, P.C., Wilkie, A.O., Wood, W.G., Dauwerse, J.G., Higgs, D.R. Am. J. Hum. Genet. (1993) [Pubmed]
  20. Allele-specific quantification of Drosophila engrailed and invected transcripts. Goldsborough, A.S., Kornberg, T.B. Proc. Natl. Acad. Sci. U.S.A. (1994) [Pubmed]
  21. Expression of p53 in human leukemia and lymphoma. Prokocimer, M., Shaklai, M., Bassat, H.B., Wolf, D., Goldfinger, N., Rotter, V. Blood (1986) [Pubmed]
  22. A novel diagnostic screen for defects in the Fanconi anemia pathway. Shimamura, A., de Oca, R.M., Svenson, J.L., Haining, N., Moreau, L.A., Nathan, D.G., D'Andrea, A.D. Blood (2002) [Pubmed]
  23. Ploidy and specific karyotypic changes during promotion with phenobarbital, 2,5,2',5'-tetrachlorobiphenyl, and/or 3,4,3'4'-tetrachlorobiphenyl in rat liver. Sargent, L.M., Sattler, G.L., Roloff, B., Xu, Y.H., Sattler, C.A., Meisner, L., Pitot, H.C. Cancer Res. (1992) [Pubmed]
  24. A DNA double strand break repair defect in Fanconi anemia fibroblasts. Donahue, S.L., Campbell, C. J. Biol. Chem. (2002) [Pubmed]
  25. The mouse meiotic mutation mei1 disrupts chromosome synapsis with sexually dimorphic consequences for meiotic progression. Libby, B.J., De La Fuente, R., O'Brien, M.J., Wigglesworth, K., Cobb, J., Inselman, A., Eaker, S., Handel, M.A., Eppig, J.J., Schimenti, J.C. Dev. Biol. (2002) [Pubmed]
  26. Gender- and age-related distinctions for the in vivo prooxidant state in Fanconi anaemia patients. Pagano, G., Degan, P., d'Ischia, M., Kelly, F.J., Pallardó, F.V., Zatterale, A., Anak, S.S., Akisik, E.E., Beneduce, G., Calzone, R., De Nicola, E., Dunster, C., Lloret, A., Manini, P., Nobili, B., Saviano, A., Vuttariello, E., Warnau, M. Carcinogenesis (2004) [Pubmed]
  27. Rad52 partially substitutes for the Rad51 paralog XRCC3 in maintaining chromosomal integrity in vertebrate cells. Fujimori, A., Tachiiri, S., Sonoda, E., Thompson, L.H., Dhar, P.K., Hiraoka, M., Takeda, S., Zhang, Y., Reth, M., Takata, M. EMBO J. (2001) [Pubmed]
  28. The Fanconi anemia group E gene, FANCE, maps to chromosome 6p. Waisfisz, Q., Saar, K., Morgan, N.V., Altay, C., Leegwater, P.A., de Winter, J.P., Komatsu, K., Evans, G.R., Wegner, R.D., Reis, A., Joenje, H., Arwert, F., Mathew, C.G., Pronk, J.C., Digweed, M. Am. J. Hum. Genet. (1999) [Pubmed]
  29. Inactivation of Dnmt3b in mouse embryonic fibroblasts results in DNA hypomethylation, chromosomal instability, and spontaneous immortalization. Dodge, J.E., Okano, M., Dick, F., Tsujimoto, N., Chen, T., Wang, S., Ueda, Y., Dyson, N., Li, E. J. Biol. Chem. (2005) [Pubmed]
  30. Molecular cytogenetic and clinical findings in ETV6/ABL1-positive leukemia. Van Limbergen, H., Beverloo, H.B., van Drunen, E., Janssens, A., Hählen, K., Poppe, B., Van Roy, N., Marynen, P., De Paepe, A., Slater, R., Speleman, F. Genes Chromosomes Cancer (2001) [Pubmed]
  31. A deletion-insertion mutation in the phosphomannomutase 2 gene in an African American patient with congenital disorders of glycosylation-Ia. Tayebi, N., Andrews, D.Q., Park, J.K., Orvisky, E., McReynolds, J., Sidransky, E., Krasnewich, D.M. Am. J. Med. Genet. (2002) [Pubmed]
  32. Relationship between experimental results in mammals and man. II. Cytogenetic analysis of bone-marrow cells after treatment of cytembena and cyclophosphamide- cytembena combination. Goetz, P., Srám, R.J., Kodýková, I., Dohnalová, J., Dostálová, O., Bartova, J. Mutat. Res. (1976) [Pubmed]
  33. Genetic changes and bioassays in bleomycin- and phleomycin-treated cells, and their relationship to chromosomal breaks. Koy, J.F., Pleninger, P., Wall, L., Pramanik, A., Martinez, M., Moore, C.W. Mutat. Res. (1995) [Pubmed]
  34. Chronic myeloid leukemia with unusual variant Ph translocation (22;22)(q11;q13). Two cases with chimeric BCR-ABL transcripts. Laï, J.L., Aissaoui, Z., Collyn-d'Hooghe, C., Delfau, M.H., Grandchamp, B., Fenaux, P., Jouet, J.P., Desablens, B., Deminatti, M., Loucheux-Lefebvre, M.H. Cancer Genet. Cytogenet. (1990) [Pubmed]
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