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Mouse models

One step closer...

Nature Reviews Cancer volume 2, page 723 (2002)Cite this article

An ATM missense mutation — 7636del9, which results in the in-frame deletion of three amino acids — has been identified in individuals with ataxia telangiectasia. The corresponding homozygous mutation in mice ( Atm -ΔSRI) also increases tumour incidence. So what about mice that are heterozygous for Atm-ΔSRI? These also showed an increase in tumour formation — 8.9% compared with 2.8% in wild-type littermates — and the tumour spectrum was similar, but not identical, to that found in mice that were homozygous for this mutation. Humans who were heterozygous for this mutation were analysed for tumour incidence, and were shown to exhibit a small increase; however, this was not statistically significant. Might these individuals, instead, display some of the other features of ataxia telangiectasia?

Heterozygous human and mouse cells were isolated, and were examined for survival and genomic instability following exposure to radiation. The level of radiation-induced death and the number of chromosome aberrations were found to be intermediate between wild-type and homozygous-mutant cells.

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References

ORIGINAL RESEARCH PAPERS

  1. Spring, K. et al. Mice heterozygous for mutation in Atm, the gene involved in ataxia-telengiectasia, have heightened susceptibility to cancer. Nature Genet. 32, 185–190 (2002)

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FURTHER READING

  1. Concannon, P. ATM heterozygosity and cancer risk. Nature Genet. 32, 89–90 (2002)

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Authors
  1. Emma Greenwood
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Greenwood, E. One step closer.... Nat Rev Cancer 2, 723 (2002). https://doi.org/10.1038/nrc916

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  • DOI: https://doi.org/10.1038/nrc916

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