The world's first wiki where authorship really matters (Nature Genetics, 2008). Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts. Search thousands of articles and collaborate with scientists around the globe.

wikigene or wiki gene protein drug chemical gene disease author authorship tracking collaborative publishing evolutionary knowledge reputation system wiki2.0 global collaboration genes proteins drugs chemicals diseases compound
Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
MeSH Review


Welcome! If you are familiar with the subject of this article, you can contribute to this open access knowledge base by deleting incorrect information, restructuring or completely rewriting any text. Read more.

Disease relevance of Aneuploidy

  • The Rpa1 mutation resulted in defects in DNA double-strand break repair and precipitated chromosomal breaks as well as aneuploidy in primary heterozygous mutant mouse embryonic fibroblasts [1].
  • Eight of the nine specimens of infiltrating ductal carcinoma that contained high levels of LIP were negative for estrogen receptor and progesterone receptor (ER-/PR-); all nine tumors were aneuploid and poorly differentiated, and eight of nine were highly proliferative [2].
  • However, the DNA histograms of cells in hyperbasophilic (intensely toluidine blue-positive) foci were aneuploid (2C-18C) and resembled those of cells in hepatocellular carcinomas (2C-23C) [3].
  • BACKGROUND & AIMS: Expression of the mucin-associated carbohydrate antigen sialyl-Tn (STn) and DNA aneuploidy has each been shown to correlate with malignant transformation in patients with sporadic colon cancer and in those with ulcerative colitis (UC) [4].
  • Although SMAD4 mutations have been associated with late-stage or metastatic disease, our combined molecular and cytogenetic data best fit a model in which SMAD4 mutations occur before colorectal cancers become aneuploid/polyploid, but after the MSI(+) and MSI(-) pathways diverge [5].

Psychiatry related information on Aneuploidy


High impact information on Aneuploidy

  • Plk4+/- embryonic fibroblasts had increased centrosomal amplification, multipolar spindle formation and aneuploidy compared with wild-type cells [8].
  • Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B [9].
  • We identified a common genetic variant in STK15 (resulting in the amino acid substitution F31I) that is preferentially amplified and associated with the degree of aneuploidy in human colon tumors [10].
  • Meiotic arrest and aneuploidy in MLH3-deficient mice [11].
  • We have previously shown in small numbers of patients that disruption of TP53 and CDKN2A typically occurs before aneuploidy and cancer [12].

Chemical compound and disease context of Aneuploidy


Biological context of Aneuploidy


Anatomical context of Aneuploidy


Associations of Aneuploidy with chemical compounds

  • Relating the level of cathepsin D to other prognostic factors in the patients with node-negative disease, we found an association with aneuploidy but none with estrogen or progesterone receptors, tumor size, or the age of the patient [28].
  • (i) Random aneuploidy was detected before transformation in up to 90% of CH embryo cells treated with the carcinogen nitrosomethylurea (NMU) [29].
  • Avicins, a family of triterpenoid saponins from Acacia victoriae (Bentham), suppress H-ras mutations and aneuploidy in a murine skin carcinogenesis model [30].
  • Sperm nuclei from eight normal, healthy donors were hybridized in situ with the biotin-labeled Y-specific pHY2.1 DNA probe to evaluate the X:Y ratio, the location of the Y chromosome, and the frequency of Y aneuploidy in human sperm [31].
  • Expression of BubR1Delta579Delta610 augmented the mitotic delay induced by spindle disruption in transfected cells as well as in clones engineered to inducibly express the mutant protein upon exposure to doxycycline and ultimately led to increased aneuploidy [32].

Gene context of Aneuploidy

  • Furthermore, although BubR1 hypomorphic mice have less aneuploidy than Bub3/Rae1 haploinsufficient mice, they age much faster [33].
  • Thus, both increased and decreased NDC1 dosage can lead to aneuploidy [34].
  • The mitotic spindle checkpoint protein Bub1 has been found to be mutated at low frequency in certain human cancers characterized by aneuploidy [35].
  • The MPC, detected on the basis of bright CD38 expression (CD38+2), demonstrated DNA aneuploidy in 65% of cases (DNA index range of 0.9 to 1.3) [36].
  • These experiments reveal an important new functional assay regulated by the BRCA1-dependent ubiquitin ligase, and the results suggest that the loss of this BRCA1 activity could cause the centrosome hypertrophy and subsequent aneuploidy typically found in breast cancers [37].

Analytical, diagnostic and therapeutic context of Aneuploidy


  1. Mutation in Rpa1 results in defective DNA double-strand break repair, chromosomal instability and cancer in mice. Wang, Y., Putnam, C.D., Kane, M.F., Zhang, W., Edelmann, L., Russell, R., Carrión, D.V., Chin, L., Kucherlapati, R., Kolodner, R.D., Edelmann, W. Nat. Genet. (2005) [Pubmed]
  2. Overexpression of C/EBPbeta-LIP, a naturally occurring, dominant-negative transcription factor, in human breast cancer. Zahnow, C.A., Younes, P., Laucirica, R., Rosen, J.M. J. Natl. Cancer Inst. (1997) [Pubmed]
  3. DNA content of liver cell nuclei of N-2-fluorenylacetamide-induced altered foci and neoplasms in rats and human hyperplastic foci. Mori, H., Tanaka, T., Sugie, S., Takahashi, M., Williams, G.M. J. Natl. Cancer Inst. (1982) [Pubmed]
  4. Sialyl-Tn antigen as a marker of colon cancer risk in ulcerative colitis: relation to dysplasia and DNA aneuploidy. Karlén, P., Young, E., Broström, O., Löfberg, R., Tribukait, B., Ost, K., Bodian, C., Itzkowitz, S. Gastroenterology (1998) [Pubmed]
  5. SMAD4 mutations in colorectal cancer probably occur before chromosomal instability, but after divergence of the microsatellite instability pathway. Woodford-Richens, K.L., Rowan, A.J., Gorman, P., Halford, S., Bicknell, D.C., Wasan, H.S., Roylance, R.R., Bodmer, W.F., Tomlinson, I.P. Proc. Natl. Acad. Sci. U.S.A. (2001) [Pubmed]
  6. Syndrome of microcephaly, Dandy-Walker malformation, and Wilms tumor caused by mosaic variegated aneuploidy with premature centromere division (PCD): report of a new case and review of the literature. Kawame, H., Sugio, Y., Fuyama, Y., Hayashi, Y., Suzuki, H., Kurosawa, K., Maekawa, K. J. Hum. Genet. (1999) [Pubmed]
  7. A rapid and quantitative DNA sex test: fluorescence-based PCR analysis of X-Y homologous gene amelogenin. Sullivan, K.M., Mannucci, A., Kimpton, C.P., Gill, P. BioTechniques (1993) [Pubmed]
  8. Plk4 haploinsufficiency causes mitotic infidelity and carcinogenesis. Ko, M.A., Rosario, C.O., Hudson, J.W., Kulkarni, S., Pollett, A., Dennis, J.W., Swallow, C.J. Nat. Genet. (2005) [Pubmed]
  9. Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B. Hanks, S., Coleman, K., Reid, S., Plaja, A., Firth, H., Fitzpatrick, D., Kidd, A., Méhes, K., Nash, R., Robin, N., Shannon, N., Tolmie, J., Swansbury, J., Irrthum, A., Douglas, J., Rahman, N. Nat. Genet. (2004) [Pubmed]
  10. Identification of Stk6/STK15 as a candidate low-penetrance tumor-susceptibility gene in mouse and human. Ewart-Toland, A., Briassouli, P., de Koning, J.P., Mao, J.H., Yuan, J., Chan, F., MacCarthy-Morrogh, L., Ponder, B.A., Nagase, H., Burn, J., Ball, S., Almeida, M., Linardopoulos, S., Balmain, A. Nat. Genet. (2003) [Pubmed]
  11. Meiotic arrest and aneuploidy in MLH3-deficient mice. Lipkin, S.M., Moens, P.B., Wang, V., Lenzi, M., Shanmugarajah, D., Gilgeous, A., Thomas, J., Cheng, J., Touchman, J.W., Green, E.D., Schwartzberg, P., Collins, F.S., Cohen, P.E. Nat. Genet. (2002) [Pubmed]
  12. Evolution of neoplastic cell lineages in Barrett oesophagus. Barrett, M.T., Sanchez, C.A., Prevo, L.J., Wong, D.J., Galipeau, P.C., Paulson, T.G., Rabinovitch, P.S., Reid, B.J. Nat. Genet. (1999) [Pubmed]
  13. Differential gene expression profile in endometrioid and nonendometrioid endometrial carcinoma: STK15 is frequently overexpressed and amplified in nonendometrioid carcinomas. Moreno-Bueno, G., Sánchez-Estévez, C., Cassia, R., Rodríguez-Perales, S., Díaz-Uriarte, R., Domínguez, O., Hardisson, D., Andujar, M., Prat, J., Matias-Guiu, X., Cigudosa, J.C., Palacios, J. Cancer Res. (2003) [Pubmed]
  14. Comparative genomic hybridization of formalin-fixed, paraffin-embedded breast tumors reveals different patterns of chromosomal gains and losses in fibroadenomas and diploid and aneuploid carcinomas. Ried, T., Just, K.E., Holtgreve-Grez, H., du Manoir, S., Speicher, M.R., Schröck, E., Latham, C., Blegen, H., Zetterberg, A., Cremer, T. Cancer Res. (1995) [Pubmed]
  15. Cyclin-dependent kinase inhibitor indirubin-3'-oxime selectively inhibits human papillomavirus type 16 E7-induced numerical centrosome anomalies. Duensing, S., Duensing, A., Lee, D.C., Edwards, K.M., Piboonniyom, S.O., Manuel, E., Skaltsounis, L., Meijer, L., Münger, K. Oncogene (2004) [Pubmed]
  16. Potentiation of taxol efficacy and by discodermolide in ovarian carcinoma xenograft-bearing mice. Huang, G.S., Lopez-Barcons, L., Freeze, B.S., Smith, A.B., Goldberg, G.L., Horwitz, S.B., McDaid, H.M. Clin. Cancer Res. (2006) [Pubmed]
  17. Indium-111-pentetreotide scintigraphy in children with neuroblast-derived tumors. Manil, L., Edeline, V., Lumbroso, J., Lequen, H., Zucker, J.M. J. Nucl. Med. (1996) [Pubmed]
  18. The clinical significance of epidermal growth factor receptor (EGF-R) in human breast cancer: a review on 5232 patients. Klijn, J.G., Berns, P.M., Schmitz, P.I., Foekens, J.A. Endocr. Rev. (1992) [Pubmed]
  19. The kinetochore and cancer: what's the connection? Yuen, K.W., Montpetit, B., Hieter, P. Curr. Opin. Cell Biol. (2005) [Pubmed]
  20. Mad2 prevents aneuploidy and premature proteolysis of cyclin B and securin during meiosis I in mouse oocytes. Homer, H.A., McDougall, A., Levasseur, M., Yallop, K., Murdoch, A.P., Herbert, M. Genes Dev. (2005) [Pubmed]
  21. Amplification/overexpression of a mitotic kinase gene in human bladder cancer. Sen, S., Zhou, H., Zhang, R.D., Yoon, D.S., Vakar-Lopez, F., Ito, S., Jiang, F., Johnston, D., Grossman, H.B., Ruifrok, A.C., Katz, R.L., Brinkley, W., Czerniak, B. J. Natl. Cancer Inst. (2002) [Pubmed]
  22. Small subgroup of aggressive, highly proliferative prostatic carcinomas defined by p53 accumulation. Visakorpi, T., Kallioniemi, O.P., Heikkinen, A., Koivula, T., Isola, J. J. Natl. Cancer Inst. (1992) [Pubmed]
  23. Genomic instability in laminopathy-based premature aging. Liu, B., Wang, J., Chan, K.M., Tjia, W.M., Deng, W., Guan, X., Huang, J.D., Li, K.M., Chau, P.Y., Chen, D.J., Pei, D., Pendas, A.M., Cadiñanos, J., López-Otín, C., Tse, H.F., Hutchison, C., Chen, J., Cao, Y., Cheah, K.S., Tryggvason, K., Zhou, Z. Nat. Med. (2005) [Pubmed]
  24. Prognostic implications of fetal echogenic bowel. Slotnick, R.N., Abuhamad, A.Z. Lancet (1996) [Pubmed]
  25. Chromatid repulsion associated with Roberts/SC phocomelia syndrome is reduced in malignant cells and not expressed in interspecies somatic-cell hybrids. Krassikoff, N.E., Cowan, J.M., Parry, D.M., Francke, U. Am. J. Hum. Genet. (1986) [Pubmed]
  26. Estrogen mediates Aurora-A overexpression, centrosome amplification, chromosomal instability, and breast cancer in female ACI rats. Li, J.J., Weroha, S.J., Lingle, W.L., Papa, D., Salisbury, J.L., Li, S.A. Proc. Natl. Acad. Sci. U.S.A. (2004) [Pubmed]
  27. Exchanges are not equally able to enhance meiotic chromosome segregation in yeast. Ross, L.O., Maxfield, R., Dawson, D. Proc. Natl. Acad. Sci. U.S.A. (1996) [Pubmed]
  28. Cathepsin D and prognosis in breast cancer. Tandon, A.K., Clark, G.M., Chamness, G.C., Chirgwin, J.M., McGuire, W.L. N. Engl. J. Med. (1990) [Pubmed]
  29. Specific aneusomies in Chinese hamster cells at different stages of neoplastic transformation, initiated by nitrosomethylurea. Fabarius, A., Willer, A., Yerganian, G., Hehlmann, R., Duesberg, P. Proc. Natl. Acad. Sci. U.S.A. (2002) [Pubmed]
  30. Avicins, a family of triterpenoid saponins from Acacia victoriae (Bentham), suppress H-ras mutations and aneuploidy in a murine skin carcinogenesis model. Hanausek, M., Ganesh, P., Walaszek, Z., Arntzen, C.J., Slaga, T.J., Gutterman, J.U. Proc. Natl. Acad. Sci. U.S.A. (2001) [Pubmed]
  31. Determination of Y chromosome aneuploidy in human sperm nuclei by nonradioactive in situ hybridization. Guttenbach, M., Schmid, M. Am. J. Hum. Genet. (1990) [Pubmed]
  32. Caspase-mediated specific cleavage of BubR1 is a determinant of mitotic progression. Kim, M., Murphy, K., Liu, F., Parker, S.E., Dowling, M.L., Baff, W., Kao, G.D. Mol. Cell. Biol. (2005) [Pubmed]
  33. Early aging-associated phenotypes in Bub3/Rae1 haploinsufficient mice. Baker, D.J., Jeganathan, K.B., Malureanu, L., Perez-Terzic, C., Terzic, A., van Deursen, J.M. J. Cell Biol. (2006) [Pubmed]
  34. Altered dosage of the Saccharomyces cerevisiae spindle pole body duplication gene, NDC1, leads to aneuploidy and polyploidy. Chial, H.J., Giddings, T.H., Siewert, E.A., Hoyt, M.A., Winey, M. Proc. Natl. Acad. Sci. U.S.A. (1999) [Pubmed]
  35. Simian virus 40 large T antigen targets the spindle assembly checkpoint protein Bub1. Cotsiki, M., Lock, R.L., Cheng, Y., Williams, G.L., Zhao, J., Perera, D., Freire, R., Entwistle, A., Golemis, E.A., Roberts, T.M., Jat, P.S., Gjoerup, O.V. Proc. Natl. Acad. Sci. U.S.A. (2004) [Pubmed]
  36. Tumor-specific aneuploidy not detected in CD19+ B-lymphoid cells from myeloma patients in a multidimensional flow cytometric analysis. McSweeney, P.A., Wells, D.A., Shults, K.E., Nash, R.A., Bensinger, W.I., Buckner, C.D., Loken, M.R. Blood (1996) [Pubmed]
  37. Centrosomal microtubule nucleation activity is inhibited by BRCA1-dependent ubiquitination. Sankaran, S., Starita, L.M., Groen, A.C., Ko, M.J., Parvin, J.D. Mol. Cell. Biol. (2005) [Pubmed]
  38. NOVP chemotherapy for Hodgkin's disease transiently induces sperm aneuploidies associated with the major clinical aneuploidy syndromes involving chromosomes X, Y, 18, and 21. Frias, S., Van Hummelen, P., Meistrich, M.L., Lowe, X.R., Hagemeister, F.B., Shelby, M.D., Bishop, J.B., Wyrobek, A.J. Cancer Res. (2003) [Pubmed]
  39. Telomere shortening correlates with increasing aneuploidy of chromosome 8 in human hepatocellular carcinoma. Plentz, R.R., Schlegelberger, B., Flemming, P., Gebel, M., Kreipe, H., Manns, M.P., Rudolph, K.L., Wilkens, L. Hepatology (2005) [Pubmed]
  40. Simultaneous suppression of epidermal growth factor receptor and c-erbB-2 reverses aneuploidy and malignant phenotype of a human ovarian carcinoma cell line. Pack, S.D., Alper, O.M., Stromberg, K., Augustus, M., Ozdemirli, M., Miermont, A.M., Klus, G., Rusin, M., Slack, R., Hacker, N.F., Ried, T., Szallasi, Z., Alper, O. Cancer Res. (2004) [Pubmed]
  41. Chromosomal instability is correlated with telomere erosion and inactivation of G2 checkpoint function in human fibroblasts expressing human papillomavirus type 16 E6 oncoprotein. Filatov, L., Golubovskaya, V., Hurt, J.C., Byrd, L.L., Phillips, J.M., Kaufmann, W.K. Oncogene (1998) [Pubmed]
WikiGenes - Universities