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Chromosome biology

Even chromosomes have their weaknesses

Nature Reviews Genetics volume 7, page 241 (2006)Cite this article

Translocations are among the most frequent genetic aberration in humans — in fact, many of us carry them around without any noticeable effect on health. Because translocations occur sporadically in so many individuals, the molecular mechanism by which they arise has been difficult to pinpoint. Kato and colleagues have now concentrated on a recurrent translocation between human chromosomes 11 and 22; they noticed that many unrelated translocations occurred within palindromic AT-rich repeats (PATRRs).

The authors then took a closer look at the palindrome on chromosome 11 (PATRR11). In most normal individuals the palindrome is about 450 bp; however, other shorter variants are also present in the healthy population, which probably arise by deletions within the 450-bp allele. But are these size variants functionally important? To find out, the authors looked to see how frequently translocations occurred de novo in sperm that carried various combinations of the PATRR11 alleles. What they found was a startling variation of three orders of magnitude in the frequency of translocation, depending on the repeat size — from 1 in 104 in the homozygote for the longest PATRR11 variant to 1 in 107 in a heterozygote for shorter variants.

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References

ORIGINAL RESEARCH PAPER

  1. Kato, T. et al. Genetic variation affects de novo translocation frequency. Science 311, 971 (2006)

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FURTHER READING

  1. Emanuel, B. S. & Shaikh, T. H. Segmental duplications: an 'expanding' role in genomic instability and disease. Nature Rev. Genet. 2, 791–800 (2001)

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  2. van Gent, D. C. et al. Chromosomal stability and the DNA double-stranded break connection. Nature Rev. Genet. 2, 196–206 (2001)

    Article  CAS  Google Scholar 

  3. Feuk, L. et al. Structural variation in the human genome. Nature Rev. Genet. 7, 85–97 (2006)

    Article  CAS  Google Scholar 

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Authors
  1. Tanita Casci
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Casci, T. Even chromosomes have their weaknesses. Nat Rev Genet 7, 241 (2006). https://doi.org/10.1038/nrg1846

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