The hMre11/hRad50 Protein Complex and Nijmegen Breakage Syndrome: Linkage of Double-Strand Break Repair to the Cellular DNA Damage Response

Nijmegen breakage syndrome (NBS) is an autosomal recessive disorder characterized by increased cancer incidence, cell cycle checkpoint defects, and ionizing radiation sensitivity. We have isolated the gene encoding p95, a member of the hMre11/hRad50 double-strand break repair complex. The p95 gene m...

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Bibliographic Details
Published in:Cell 1998-05, Vol.93 (3), p.477-486
Main Authors: Carney, James P, Maser, Richard S, Olivares, Heidi, Davis, Elizabeth M, Le Beau, Michelle, Yates, John R, Hays, Lara, Morgan, William F, Petrini, John H.J
Format: Article
Language:English
Subjects:
Acid Anhydride Hydrolases
Cell Cycle Proteins - analysis
Cell Cycle Proteins - chemistry
Cell Cycle Proteins - genetics
Cell Cycle Proteins - isolation & purification
Cell Cycle Proteins - physiology
Cell Line
Chromosome Mapping
Chromosomes, Human, Pair 8 - genetics
Cloning, Molecular
DNA Damage - genetics
DNA Repair - genetics
DNA Repair Enzymes
DNA, Complementary - genetics
DNA-Binding Proteins - analysis
DNA-Binding Proteins - genetics
DNA-Binding Proteins - metabolism
Fibroblasts - radiation effects
Genes, Recessive - genetics
HeLa Cells
Humans
Microcephaly - genetics
Molecular Sequence Data
Molecular Weight
MRE11 Homologue Protein
Nuclear Proteins
Proteins - analysis
Proteins - genetics
Proteins - metabolism
Radiation Tolerance
Radiation, Ionizing
RNA, Messenger - analysis
Sequence Homology, Amino Acid
Species Specificity
Syndrome
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Summary:Nijmegen breakage syndrome (NBS) is an autosomal recessive disorder characterized by increased cancer incidence, cell cycle checkpoint defects, and ionizing radiation sensitivity. We have isolated the gene encoding p95, a member of the hMre11/hRad50 double-strand break repair complex. The p95 gene mapped to 8q21.3, the region that contains the NBS locus, and p95 was absent from NBS cells established from NBS patients. p95 deficiency in these cells completely abrogates the formation of hMre11/hRad50 ionizing radiation-induced foci. Comparison of the p95 cDNA to the NBS1 cDNA indicated that the p95 gene and NBS1 are identical. The implication of hMre11/hRad50/p95 protein complex in NBS reveals a direct molecular link between DSB repair and cell cycle checkpoint functions.
ISSN:0092-8674
1097-4172
DOI:10.1016/S0092-8674(00)81175-7