Closing the gaps among a web of DNA repair disorders.

نویسندگان

  • R J Michelson
  • T Weinert
چکیده

As recently as six years ago, three human diseases with similar phenotypes were mistakenly believed to be caused by a single genetic defect. The three diseases, Ataxia-telangiectasia, Nijmegen breakage syndrome, and an AT-like disorder are now known, however, to have defects in three separate genes: ATM, NBS1, and MRE11. Furthermore, new recent studies have shown now that all three gene products interact; the ATM kinase phosphorylates NBS1, which, in turn, associates with MRE11 to regulate DNA repair. Remarkably or expectedly, depending on one's point of view, the similarity in disease phenotypes is evidently due to defects in a common DNA repair pathway.

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عنوان ژورنال:
  • BioEssays : news and reviews in molecular, cellular and developmental biology

دوره 22 11  شماره 

صفحات  -

تاریخ انتشار 2000