Numerical Chromosomal Aberrations in Human Diseases
作者： Zuzana Storchova
DOI: 10.1002/9780470015902.A0001451.PUB2
关键词:
摘要: Numerical aberrations (whole chromosomal aneuploidy) represent a significant proportion of changes found in humans. These can occur as consequence chromosome segregation defects during cell division. Segregation errors arising reductive division, or meiosis, are upon fertilisation and subsequent embryo development constitutively present all cells, resulting whole organismal aneuploidy. Missegregation mitosis leads to mosaic distribution Aneuploidy is associated with pathological states most organisms. cause pregnancy loss well abnormalities live births. Moreover, numerical frequently ageing tissues tumour cells. Although the association aneuploidy cancer known for almost century, dispute still ongoing whether this transformation. Recently, new evidence emerging that significantly alter physiology eukaryotic cells might indeed directly contribute tumorigenesis. Key Concepts: Numerical result from segregations. Trisomy, monosomy polyploidy among major causes spontaneous human abortions. Trisomies compatible survival often multiple defects. Numerical cells. Numerical tumorigenesis. Keywords: numerical aberrations; aneuploidy; polyploidy; trisomy; tetraploidy; cancer
sci-hub.st 参考文章(35)
M Linden, Intrauterine diagnosis of sex chromosome aneuploidy Obstetrics & Gynecology. ,vol. 87, pp. 468- 475 ,(1996) , 10.1016/0029-7844(95)00419-X
DH Ledbetter, E Engel, Uniparental disomy in humans: development of an imprinting map and its implications for prenatal diagnosis Human Molecular Genetics. ,vol. 4, pp. 1757- 1764 ,(1995) , 10.1093/HMG/4.SUPPL_1.1757
Takeshi Fujiwara, Madhavi Bandi, Masayuki Nitta, Elena V. Ivanova, Roderick T. Bronson, David Pellman, Cytokinesis failure generating tetraploids promotes tumorigenesis in p53 -null cells Nature. ,vol. 437, pp. 1043- 1047 ,(2005) , 10.1038/NATURE04217
M. A. Kingsbury, B. Friedman, M. J. McConnell, S. K. Rehen, A. H. Yang, D. Kaushal, J. Chun, Aneuploid neurons are functionally active and integrated into brain circuitry. Proceedings of the National Academy of Sciences of the United States of America. ,vol. 102, pp. 6143- 6147 ,(2005) , 10.1073/PNAS.0408171102
M. A. Kingsbury, Y. C. Yung, S. E. Peterson, J. W. Westra, J. Chun, Aneuploidy in the normal and diseased brain. Cellular and Molecular Life Sciences. ,vol. 63, pp. 2626- 2641 ,(2006) , 10.1007/S00018-006-6169-5
Thomas Arendt, Birgit Mosch, Markus Morawski, Neuronal Aneuploidy in Health and Disease: A Cytomic Approach to Understand the Molecular Individuality of Neurons International Journal of Molecular Sciences. ,vol. 10, pp. 1609- 1627 ,(2009) , 10.3390/IJMS10041609
Sallie B. Freeman, Quanhe Yang, Katherine Allran, Lisa F. Taft, Stephanie L. Sherman, Women with a reduced ovarian complement may have an increased risk for a child with Down syndrome. American Journal of Human Genetics. ,vol. 66, pp. 1680- 1683 ,(2000) , 10.1086/302907
Sarah L. Thompson, Samuel F. Bakhoum, Duane A. Compton, Mechanisms of Chromosomal Instability Current Biology. ,vol. 20, ,(2010) , 10.1016/J.CUB.2010.01.034
Dieter Kotzot, Abnormal phenotypes in uniparental disomy (UPD): fundamental aspects and a critical review with bibliography of UPD other than 15. American Journal of Medical Genetics. ,vol. 82, pp. 265- 274 ,(1999) , 10.1002/(SICI)1096-8628(19990129)82:3<265::AID-AJMG14>3.0.CO;2-6
Sandra Hanks, Kim Coleman, Sarah Reid, Alberto Plaja, Helen Firth, David FitzPatrick, Alexa Kidd, Károly Méhes, Richard Nash, Nathanial Robin, Nora Shannon, John Tolmie, John Swansbury, Alexandre Irrthum, Jenny Douglas, Nazneen Rahman, Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B Nature Genetics. ,vol. 36, pp. 1159- 1161 ,(2004) , 10.1038/NG1449