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NBS1 localizes to gamma-H2AX foci through interaction with the FHA/BRCT domain.
TLDR
NBS1, the gene product defective in Nijmegen breakage syndrome (NBS), physically interacts with histone, rather than damaged DNA, by direct binding to gamma-H2AX, and the FHA/BRCT domain of NBS1 is essential for this physical interaction.
Linkage between Werner Syndrome Protein and the Mre11 Complex via Nbs1*
TLDR
A functional link between the two genetic diseases with partially overlapping phenotypes in a pathway that responds to DNA double strand breaks and interstrand cross-links is demonstrated.
Nbs1 is essential for DNA repair by homologous recombination in higher vertebrate cells
TLDR
The disruption of Nbs1 reduces gene conversion and sister chromatid exchanges, similar to other HR-deficient mutants, and a site-specific double-strand break repair assay showed a notable reduction of HR events following generation of such breaks in NBS1-disrupted cells.
Chk2 Activation Dependence on Nbs1 after DNA Damage
TLDR
It is shown that the ATM-dependent activation of Chk2 by γ- radiation requires Nbs1, the gene product involved in the Nijmegen breakage syndrome (NBS), a disorder that shares with AT a variety of phenotypic defects including chromosome fragility, radiosensitivity, and radioresistant DNA synthesis, and suggest that checkpoint defects in NBS cells may result from the inability to activate Chk1.
Monoallelic BUB1B mutations and defective mitotic‐spindle checkpoint in seven families with premature chromatid separation (PCS) syndrome
TLDR
Molecular analysis of BUB1B (encoding BubR1) in seven Japanese families with the PCS syndrome indicates the involvement of BubR 1 in p55cdc‐mediated mitotic checkpoint signaling, and suggest that >50% decrease in expression (or activity) ofbubR1 is involved in thePCS syndrome.
Accumulation of Werner protein at DNA double-strand breaks in human cells
TLDR
The kinetics of the intranuclear mobilization of WRN protein in response to a variety of types of DNA damage produced locally in the nucleus of human cells suggest that WRN functions mainly at DNA double-strand breaks and structures resembling double-Strand breaks in living cells.
TopBP1 associates with NBS1 and is involved in homologous recombination repair.
Positional cloning of the gene for Nijmegen breakage syndrome
Nijmegen breakage syndrome (NBS), also known as ataxia-telangiectasia (AT) variant, is an autosomal recessive disorder characterized by microcephaly, growth retardation, severe combined
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