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Genomic instability

Caught short

Nature Reviews Cancer volume 2, page 246 (2002)Cite this article

To determine whether MRE11 is mutated in human cancers, a 5′ fragment of the MRE11 transcript was amplified by polymerase chain reaction from a range of cell lines. Low levels of this fragment, and another product — a transcript that is deleted for exon 5 and encodes a truncated protein product — were obtained from several colorectal cancer cell lines, as well as a prostate cancer and an endometrial carcinoma cell line. These cell lines are all deficient in mismatch repair; so does this deficiency cause the MRE11 mutations?

Sequencing the mutated MRE11 gene revealed that the splice site 5′ to exon 5 contained deletions of one or two of the 11 thymine bases that are normally found — a mutation type that is frequently found in mismatch-repair-deficient cells. This reduces the efficiency of the splicing signal, which accounts for both the truncated product and the reduced expression of the wild-type product. Similar mutations were also found in mismatch-repair-deficient — but not mismatch-repair-proficient — primary colorectal cancers. The expression of both the mRNA and protein was also very low, indicating that the transcript might be degraded.

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ORIGINAL RESEARCH PAPER

  1. Giannini, G. et al. Human MRE11 is inactivated in mismatch repair-deficient cancers. EMBO Rep. 3, 248–254 (2002)

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Authors
  1. Emma Greenwood
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human mismatch repair: defects and predisposition to cancer

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Greenwood, E. Caught short. Nat Rev Cancer 2, 246 (2002). https://doi.org/10.1038/nrc793

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  • DOI: https://doi.org/10.1038/nrc793

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