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ATR mutation

Seckel syndrome is an autosomal recessive disorder involving dwarfism and mental retardation. In an Advance Online Publication in Nature Genetics O'Driscoll et al. report the discovery of a mutation in the DNA-repair kinase ATR, in Seckel syndrome patients (Nature Genetics, 17 March 2003, doi:10.1038/ng1129). The ATR(ataxia-telangiectasia and Rad3-related) gene mapped to chromosome 3q22.1-q24, which had been genetically linked to Seckel syndrome. Fibroblasts from patients had impaired ATR function and response to ultraviolet radiation. O'Driscoll et al.identified a synonymous mutation that affects ATR splicing, and that causes reduced ATR protein levels. This is the first report linking ATR signalling to a clinical disorder.

References

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    Seckel syndrome, [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=210600]

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    Nature Genetics, [http://www.nature.com/naturegenetics]

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    ATM and ATR: networking cellular responses to DNA damage.

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Keywords

  • Protein Level
  • Mental Retardation
  • Ultraviolet Radiation
  • Syndrome Patient
  • Clinical Disorder