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As normal as normal can be?

Two papers report that large-scale copy-number variations, ranging in size from 100 kb to 2 Mb, are distributed widely throughout the human genome, and that a high proportion of them encompass known genes. This unexpected level of genome variation has implications for our view of human genetic diversity and phenotypic variation.

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Figure 1: Fluoresence in situ hybridization on stretched DNA fibers shows copy-number variation at the AMY1A–AMY2A locus on 1p21.1.

Photo courtesy of Charles Lee

References

  1. Eichler, E.E. & Frazer, K.A. Genome Biol. 5, 318 (2004).

    Article  PubMed  PubMed Central  Google Scholar 

  2. Bailey, J.A. et al. Science 297, 1003–1007 (2002).

    Article  CAS  PubMed  Google Scholar 

  3. Campbell, R.D. et al. Exp. Clin. Immunogenet. 7, 69–84 (1990).

    CAS  PubMed  Google Scholar 

  4. Riley, B. et al. Genomics 79, 197–209 (2002).

    Article  CAS  PubMed  Google Scholar 

  5. Blunt, T. et al. Ann. Hum. Genet. 58, 19–24 (1994).

    Article  CAS  PubMed  Google Scholar 

  6. Gilles, F. et al. Genomics 70, 364–374 (2000).

    Article  CAS  PubMed  Google Scholar 

  7. Hollox, E.J. et al. Am. J. Hum. Genet. 73, 591–600 (2003).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  8. Kulski, J.K. et al. Immunol. Rev. 190, 95–122 (2002).

    Article  CAS  PubMed  Google Scholar 

  9. Iafrate, A.J. et al. Nat. Genet. 36, 949–951 (2004).

    Article  CAS  PubMed  Google Scholar 

  10. Sebat, J. et al. Science 305, 525–528 (2004).

    Article  CAS  PubMed  Google Scholar 

  11. Bailey, J.A. et al. Genome Biol. 5, R23 (2004).

    Article  PubMed  PubMed Central  Google Scholar 

  12. Shaw, C.J. & Lupski, J.R. Hum. Mol. Genet. 13 Spec No 1, R57–R64 (2004).

    Article  CAS  PubMed  Google Scholar 

  13. Eichler, E.E. et al. Nat. Rev. Genet. 5, 345–354 (2004).

    Article  CAS  PubMed  Google Scholar 

  14. Townson, J.R. et al. Eur. J. Immunol. 32, 3016–3026 (2002).

    Article  CAS  PubMed  Google Scholar 

  15. Shaw-Smith, C. et al. J. Med. Genet. 41, 241–248 (2004).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

Download references

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Carter, N. As normal as normal can be?. Nat Genet 36, 931–932 (2004). https://doi.org/10.1038/ng0904-931

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