Genomic structural variation and schizophrenia

被引:0
作者
Mulle J.G. [1 ]
机构
[1] Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30317
关键词
Schizophrenia; Copy Number Variation; 22q11 Deletion; 22q11 Deletion Syndrome; Schizophrenia Susceptibility;
D O I
10.1007/s11920-008-0029-y
中图分类号
学科分类号
摘要
It has recently been demonstrated that a large amount of structural variation exists in the human genome. Since 2004, when two landmark studies reported polymorphic levels of copy number variation in phenotypically normal individuals, our understanding of genome-wide levels of copy number variation has grown. This has inspired hypotheses about this class of variation's contribution to complex genetic phenotypes, including the specific hypothesis that structural variation is associated with psychiatric illness. The technology to accurately and efficiently detect polymorphic structural variants is still largely under development, but some examples of genomic imbalance contributing to schizophrenia and bipolar disorder already have been identified. Although much optimism surrounds this burgeoning field, the technical challenges in reliably identifying structural variation mean recent literature should be approached with caution. Copyright © 2008 by Current Medicine Group LLC.
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页码:171 / 177
页数:6
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  • [1] Sebat J., Lakshmi B., Troge J., Et al., Large-scale copy number polymorphism in the human genome, Science, 305, pp. 525-528, (2004)
  • [2] Iafrate A.J., Fenk L., Rivera M.N., Et al., Detection of large-scale variation in the human genome, Nat Genet, 36, pp. 949-951, (2004)
  • [3] Sharp A.J., Locke D.P., McGrath S.D., Et al., Segmental duplications and copy-number variation in the human genome, Am J Hum Genet, 77, pp. 78-88, (2005)
  • [4] Tuzun E., Sharp A.J., Bailey J.A., Et al., Fine-scale structural variation of the human genome, Nat Genet, 37, pp. 727-732, (2005)
  • [5] McCarroll S.A., Hadnott T.N., Perry G.H., Et al., Common deletion polymorphisms in the human genome, Nat Genet, 38, pp. 86-92, (2006)
  • [6] Conrad D.F., Andrews T.D., Carter N.P., Et al., A high-resolution survey of deletion polymorphism in the human genome, Nat Genet, 38, pp. 75-81, (2006)
  • [7] Redon R., Ishikawa S., Fitch K.R., Et al., Global variation in copy number in the human genome, Nature, 444, pp. 444-454, (2006)
  • [8] Dean M., Carrington M., Winkler C., Et al., Genetic restriction of HIV-1 infection and progression to AIDS by a deletion allele of the CKR5 structural gene. Hemophilia Growth and Development Study, Multicenter AIDS Cohort Study, Multicenter Hemophilia Cohort Study, San Francisco City Cohort, ALIVE Study, Science, 273, pp. 1856-1862, (1996)
  • [9] Liu R., Paxton W.A., Choe S., Et al., Homozygous defect in HIV-1 coreceptor accounts for resistance of some multiply-exposed individuals to HIV-1 infection, Cell, 86, pp. 367-377, (1996)
  • [10] Novembre J., Galvani A.P., Slatkin M., The geographic spread of the CCR5 Delta32 HIV-resistance allele, PLoS Biol, 3, (2005)