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Closing the gaps among a web of DNA repair disorders
Author(s) -
Michelson Rhett J.,
Weinert Ted
Publication year - 2000
Publication title -
bioessays
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.175
H-Index - 184
eISSN - 1521-1878
pISSN - 0265-9247
DOI - 10.1002/1521-1878(200011)22:11<966::aid-bies2>3.0.co;2-l
Subject(s) - nijmegen breakage syndrome , ataxia telangiectasia , genetics , dna repair , biology , phenotype , gene , dna , dna damage , bioinformatics
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,(1–4) 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. BioEssays 22:966–969, 2000. © 2000 John Wiley & Sons, Inc.