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ATR mutation

Jonathan B Weitzman

Citation and License

Genome Biology 2003, 4:spotlight-20030317-01  doi:10.1186/gb-spotlight-20030317-01

The electronic version of this article is the complete one and can be found online at:


Published:17 March 2003

© 2003 BioMed Central Ltd

Research news

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 (NatureGenetics, 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

  1. [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=210600] webcite

    Seckel syndrome

  2. [http://www.nature.com/naturegenetics] webcite

    Nature Genetics

  3. ATM and ATR: networking cellular responses to DNA damage.

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