Kataegis

In molecular biology kataegis describes a pattern of localized hypermutation identified in some cancer genomes.[1] The term kataegis is derived from the ancient Greek word for "thunder", καταιγίς (kataigis). Regions of kataegis have been shown to be colocalised with regions of somatic genome rearrangements. The base mutations in these regions were found to be almost exclusively cytosine to thymine in the context of a TpC dinucleotide. It has been hypothesised that an enzyme of the APOBEC family is responsible for the process of kataegis.[1] The direct link between the APOBEC deaminases and kataegistic clusters of mutations was recently obtained by expressing hyperactive deaminase in yeast cells. [2] More recent evidence has linked the overexpression of the family member APOBEC3B with multiple human cancers, highlighting its possible contribution to genomic instability and kataegis. [3]

See also

References

  1. 1 2 Nik-Zainal S, Alexandrov LB, Wedge DC, et al. (May 2012). "Mutational processes molding the genomes of 21 breast cancers". Cell 149 (5): 979–93. doi:10.1016/j.cell.2012.04.024. PMC 3414841. PMID 22608084.
  2. ↑ Lada A.G., Dhar A, Boissy RJ, Hirano M., Rubel A.A., Rogozin I.B., Pavlov Y.I. (December 2012). "AID/APOBEC cytosine deaminase induces genome-wide kataegis". Biology Direct 7 (47): 47. doi:10.1186/1745-6150-7-47. PMC 3542020. PMID 23249472.
  3. ↑ Burns M.B., Temiz N.A., Harris, R.S. (September 2013). "Evidence for APOBEC3B mutagenesis in multiple human cancers". Nature Genetics 45 (9): 8. doi:10.1038/ng.2701. PMC 3902892. PMID 23852168.

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