Molecular genetics of RecQ helicase disorders

@article{Hanada2007MolecularGO,
  title={Molecular genetics of RecQ helicase disorders},
  author={Katsuhiro Hanada and Ian D. Hickson},
  journal={Cellular and Molecular Life Sciences},
  year={2007},
  volume={64},
  pages={2306-2322}
}
Abstract.The RecQ helicases belong to the Superfamily II group of DNA helicases, and are defined by amino acid motifs that show sequence similarity to the catalytic domain of Escherichia coli RecQ. RecQ helicases have crucial roles in the maintenance of genome stability. In humans, there are five RecQ helicases and deficiencies in three of them cause genetic disorders characterised by cancer predisposition, premature aging and/or developmental abnormalities. RecQ helicase-deficient cells… Expand
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References

SHOWING 1-10 OF 142 REFERENCES
RecQ helicases: suppressors of tumorigenesis and premature aging.
TLDR
The properties of RecQ helicases in organisms from bacteria to humans are reviewed, with an emphasis on the biochemical functions of these enzymes and the range of protein partners that they operate with. Expand
Mechanisms of RecQ helicases in pathways of DNA metabolism and maintenance of genomic stability.
TLDR
A review of RecQ helicases from bacteria to human reveals their importance in genomic stability by their participation with other proteins to resolve DNA replication and recombination intermediates. Expand
RecQ family helicases: roles as tumor suppressor proteins
TLDR
Humans have five RecQ family members, and deficiencies in three of them, BLM, WRN, and RTS, cause Bloom's, Werner's, and Rothmund-Thomson syndromes, respectively, each characterized by genomic instability and cancer predisposition, so those helicases qualify as caretaker-type tumor suppressor proteins. Expand
RECQL, a Member of the RecQ Family of DNA Helicases, Suppresses Chromosomal Instability
TLDR
Results provide evidence that RECQL has a unique cellular role in the DNA repair processes required for genomic integrity and may protect the unstressed mouse from the types of abnormalities that might be expected from the severe chromosomal aberrations detected at the cellular level. Expand
The function of RecQ helicase gene family (especially BLM) in DNA recombination and joining.
TLDR
The characteristic phenotypes of BS are shown, especially two Japanese siblings, and several lines of reports indicates that BLM helicase is involved in the re-initiation of DNA replication at sites where replication forks have arrested or collapsed. Expand
Cloning of two new human helicase genes of the RecQ family: biological significance of multiple species in higher eukaryotes.
TLDR
The biological significance of multiple species of human RecQ helicases, which are apparently nonessential for life but may be related to distinct diseases, is discussed in light of the fact that unicellular organisms, like Escherichia coli and yeast, contain only one species of helicase of this particular family. Expand
RecQ DNA helicase is a suppressor of illegitimate recombination in Escherichia coli.
TLDR
It is concluded that the RecQ function suppresses illegitimate recombination that depends on short homologous regions, and a model, based on the 3'-to-5' helicase activity of RecQ, is discussed, to explain the role of this protein as a suppressor of illegitimate recombinations. Expand
Biochemical characterization of the RECQ4 protein, mutated in Rothmund-Thomson syndrome.
TLDR
It is determined that a DNA length of 60 nucleotides is required to maximally activate ATP hydrolysis by RECQ4, while the minimal site size for ssDNA binding byRECQ4 is between 20 and 40 nucleotide, and Interestingly, RECZ4 possesses a single-strand DNA annealing activity that is inhibited by the single-Strand DNA binding protein RPA. Expand
Potential Role for the BLM Helicase in Recombinational Repair via a Conserved Interaction with RAD51*
TLDR
It is reported that purified BLM and human RAD51 interact in vitro and in vivo, and that residues in the N- and C-terminal domains of BLM can independently mediate this interaction. Expand
RecQ Family Members Combine Strand Pairing and Unwinding Activities to Catalyze Strand Exchange*
TLDR
It is postulate that certain RecQ helicases are structurally designed to accomplish strand exchange on complex replication and recombination intermediates, highly consistent with proposed roles for RecQ members in DNA metabolism and the illegitimate recombination and cancer-prone phenotypes associated with RecQ defects. Expand
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