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A human ortholog of archaeal DNA repair protein Hef is defective in Fanconi anemia complementation group M
TLDR
FAAP250 or FANCM has sequence similarity to known DNA-repair proteins, including archaeal Hef, yeast MPH1 and human ERCC4 or XPF and may act as an engine that translocates the Fanconi anemia core complex along DNA.
A novel ubiquitin ligase is deficient in Fanconi anemia
TLDR
The data suggest that PHF9 has a crucial role in the Fanconi anemia pathway as the likely catalytic subunit required for monoubiquitination of FANCD2.
A Multiprotein Nuclear Complex Connects Fanconi Anemia and Bloom Syndrome
TLDR
This study provides the first biochemical characterization of a multiprotein FA complex and suggests a connection between the BLM and FA pathways of genomic maintenance and the findings that FA proteins are part of a DNA-unwinding complex imply thatFA proteins may participate in DNA repair.
BLAP75, an essential component of Bloom's syndrome protein complexes that maintain genome integrity
TLDR
It is demonstrated that BLAP75, a novel protein containing a putative OB‐fold nucleic acid binding domain, is an integral component of BLM complexes, and is essential for their stability in vivo.
Impaired FANCD2 monoubiquitination and hypersensitivity to camptothecin uniquely characterize Fanconi anemia complementation group M.
TLDR
FANCM functions in an FA core complex-dependent and -independent manner, and a C-terminal deletion mutant rescued the cross-linker sensitivity of FancM(-/-) cells, whereas a FANCM ATPase mutant did not.
Rif1 provides a new DNA‐binding interface for the Bloom syndrome complex to maintain normal replication
TLDR
V vertebrate Rif1 contains a DNA‐binding domain that resembles the αCTD domain of bacterial RNA polymerase α; and this domain preferentially binds fork and Holliday junction (HJ) DNA in vitro and is required for R if1 to resist replication stress in vivo.
BLAP18/RMI2, a novel OB-fold-containing protein, is an essential component of the Bloom helicase-double Holliday junction dissolvasome.
TLDR
Results establish BLAP18/RMI2 as an essential member of the BTB dHJ dissolvasome that is required for the maintenance of a stable genome.
X-linked inheritance of Fanconi anemia complementation group B
TLDR
It is shown that the protein defective in individuals with Fanconi anemia belonging to complementation group B is an essential component of the nuclear protein 'core complex' responsible for monoubiquitination of FANCD2, a key event in the DNA-damage response pathway associated with Fanigo anemia and BRCA.
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