• and mutations in three human RecQ genes are implicated in heritable human diseases: WRN gene in Werner syndrome (WS), BLM gene in Bloom syndrome (BS), and RECQL4 in Rothmund-Thomson syndrome. (wikipedia.org)
  • SGS1, a Saccharomyces cerevisiae 3 '-5' DNA helicase, is a homologue of the Escherichia coli RecQ gene. (le.ac.uk)
  • The knockout mouse model created by deletion of the RecQ helicase domain of the mouse Wrn homologue gene (Wrn(∆hel/∆hel)) is of great interest because it develops atherosclerosis and hypertriglyceridemia, conditions associated with aging liver and sinusoidal changes. (nih.gov)
  • The BLM gene codes for a RecQ helicase that forms a complex with two other proteins, DNA topoisomerase IIIα and RMI. (orpha.net)
  • They also knocked out a gene responsible for winding DNA and is defective a premature aging syndrome known as WRN RecQ Helicase. (rechargebiomedical.com)
  • To define better cellular events that are specifically vulnerable to WRN deficiency, I used RNA interference (RNAi) to silence the expression of Wrn gene and other RecQ helicases, linked to different clinical phenotypes, in primary human fibroblasts. (yale.edu)
  • RecQ helicases function in development, DNA repair, and gene targeting in Physcomitrella patens. (viaf.org)
  • Both are caused by gene mutations leading to defective RecQ DNA helicases, which normally repair DNA. (msdmanuals.com)
  • RecQ family members share three regions of conserved protein sequence referred to as the: N-terminal - Helicase middle - RecQ-conserved (RecQ-Ct) and C-terminal - Helicase-and-RNase-D C-terminal (HRDC) domains. (wikipedia.org)
  • The mRNA and protein expression of the majority of the RECQ helicases was closely correlated, suggesting that altered mRNA expression is the predominant mechanism for deregulated RECQ helicase expression. (nebraska.edu)
  • In an important model of premature aging, Werner's Syndrome, the genetic problem seems to be lack of a helicase protein that can unwind G-quadruplexes. (anti-agingfirewalls.com)
  • The Bloom syndrome helicase BLM and topoisomerase-IIβ-binding protein 1 (TopBP1) are key regulators of genome stability. (icr.ac.uk)
  • In eukaryotes, replication does not proceed normally in the absence of RecQ proteins, which also function in aging, silencing, recombination and DNA repair. (wikipedia.org)
  • As well as the RecQ proteins of (1-7). (bioinf.org)
  • We find that this type of non-canonical fork convergence in fission yeast is prone to trigger deletions between repetitive DNA sequences via a mechanism we call Inter-Fork Strand Annealing (IFSA) that depends on the recombination proteins Rad52, Exo1 and Mus81, and is countered by the FANCM-related DNA helicase Fml1. (elifesciences.org)
  • RecQ DNA helicases, including candida Sgs1p and the human being Werner and Bloom syndrome proteins, participate in telomere biology, however the underlying mechanisms aren't understood fully. (hoot4owls.org)
  • These genes include BLM , WRN and RECQ4 , all of which encode proteins from the same family of DNA repair proteins, the RecQ helicases . (ku.dk)
  • We combine biochemical analysis of RecQ helicases with molecular/cell biology studies of the effects of loss of function of each of these proteins. (ku.dk)
  • Furthermore, we study proteins that regulate the activity of these helicases, such as the Exo1 exonuclease, which plays important role in both DNA mism a tch repair and double-stranded DNA break repair . (ku.dk)
  • The proper function of RecQ helicases requires the specific interaction with topoisomerase III (Top 3). (wikipedia.org)
  • The interaction of RecQ helicase with topoisomerase III at the N-terminal region is involved in the suppression of spontaneous and damage induced recombination and the absence of this interaction results in a lethal or very severe phenotype. (wikipedia.org)
  • The RECQ helicases repair damaged DNA including damage caused by topoisomerase I inhibitors, such as irinotecan. (nebraska.edu)
  • Several members of the RecQ category of DNA helicases are recognized to connect to DNA topoisomerase III. (bioinf.org)
  • In prokaryotes RecQ is necessary for plasmid recombination and DNA repair from UV-light, free radicals, and alkylating agents. (wikipedia.org)
  • RecQ helicase is a family of helicase enzymes initially found in Escherichia coli that has been shown to be important in genome maintenance. (wikipedia.org)
  • RECQ helicases are a family of enzymes with both over lapping and unique functions. (oncotarget.com)
  • The Werner syndrome ATP-dependent helicase (WRN helicase) is unusual among RecQ DNA family helicases in having an additional exonuclease activity. (wikipedia.org)
  • WRN is a RecQ helicase with an associated exonuclease activity important in DNA metabolism, including DNA replication, repair and recombination. (brighton.ac.uk)
  • All missense mutations are in the highly conserved DEAH or RecQ C-terminal helicase domains. (lu.se)
  • Rong, S. B., Väliaho, J. and Vihinen, M. (2000) Structural basis of Bloom syndrome (BS) causing mutations in the BLM helicase domain. (lu.se)
  • The removal of the N-terminal residues (Helicase and, RecQ-Ct domains) impairs both helicase and ATPase activity but has no effect on the binding ability of RecQ implying that the N-terminus functions as the catalytic end. (wikipedia.org)
  • Eukaryotic DNA repair helicase RAD3/ERCC-2, an ATP-dependent 5'-3' DNA helicase involved in nucleotide excision repair of UV-damaged DNA. (embl.de)
  • An ATP-dependent 3'-5' DNA helicase which is a component of the core-TFIIH basal transcription factor, involved in nucleotide excision repair (NER) of DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. (embl.de)
  • The identification of both replication factor C and DNA helicases as critical for sister chromatid pairing has brought new insights into this fundamental process. (rupress.org)
  • RECQ-mediated genome instability 1, RECQ-mediated genome instability 2, Microcephaly, growth restriction, & increased sister-chromatid exchange 2. (orpha.net)
  • RecQ family DNA helicases function in the maintenance of genome stability. (liveconscience.com)
  • [ 11 ] which codes for a member of the RecQ family of DNA helicases. (medscape.com)
  • The RecQ helicase has a single repeat that also binds to zinc, but this has not been included in this family. (embl.de)
  • Wrn codes for a member of the RecQ helicase family with a unique nuclease domain. (brighton.ac.uk)
  • [ 3 ] which codes for a member of the RecQ family of DNA helicases. (medscape.com)
  • WS have been classified is a member of the RecQ family of DNA helicases implicated in the resolution of DNA structures leading to the stall of replication forks. (medscape.com)
  • The N-terminal domain also contains motif III (S-A-T) which was proposed to participate in linking ATPase and helicase activities. (embl.de)
  • Further, by expressing a helicase dead RECQL5 and by depleting bladder cancer cells of RECQL5 we show that inhibition of RECQL5 activity has potential as a new target for treatment of UCC. (oncotarget.com)
  • The importance of RecQ in cellular functions is exemplified by human diseases, which all lead to genomic instability and a predisposition to cancer. (wikipedia.org)
  • The emerging picture clearly is that RecQ helicases in concert with Top 3 are involved in maintaining genomic stability and integrity by controlling recombination events, and repairing DNA damage in the G2-phase of the cell cycle. (wikipedia.org)
  • Loss of the wrn helicase imposes a distinct set of phenotypes at the cellular level. (brighton.ac.uk)
  • Eukaryotic TFIIH basal transcription factor complex helicase XPB subunit. (embl.de)
  • Eukaryotic ATP-dependent DNA helicase Q. A DNA helicase that may play a role in the repair of DNA that is damaged by ultraviolet light or other mutagens. (embl.de)
  • Bacterial and eukaryotic antiviral SKI2-like helicase. (embl.de)
  • Truncations of the C-terminus (HRDC domain) compromise the binding ability of RecQ but not the catalytic function. (wikipedia.org)
  • It consists of seven distinct structural domains, which are from the N-terminus, poly-aspartate domain (PD1), poly-serine domain (PS), poly-aspartate domain (PD2), DEAH helicase domain (DEAH), RecQ helicase C-terminal domain (RecQCt), helicase and RNase D C-terminal domain (HRDC). (lu.se)
  • thus it is crucial that RecQ is present and functional to ensure proper human growth and development. (wikipedia.org)
  • RECQ helicase expression patterns varied between specific molecular subtypes of CRCs. (nebraska.edu)
  • The process likely involves the helicase and exonuclease activities of WRN that operate together with DNA polymerase beta in long patch base excision repair. (wikipedia.org)
  • This entry represents the DNA-binding domain of classical SF1 and SF2 helicases. (embl.de)
  • It has a DNA unwinding activity characteristic of helicases with a 3' to 5' polarity. (embl.de)
  • The purpose of this thesis is to provide a better understanding of the role of this helicase during meiotic recombination. (le.ac.uk)
  • RECQ helicase expression is altered in CRC, suggesting that RECQ helicase expression has potential to identify CRCs that are susceptible to specific chemotherapeutic agents. (nebraska.edu)
  • These two superfamilies encompass a large number of DNA and RNA helicases from archaea, eubacteria, eukaryotes and viruses that seem to be active as monomers or dimers. (embl.de)
  • If you took away the helicase ( squares ), they had low ability to reproduce with low levels of dysfunctional telomeres (which shorten only when cell division is allowed to occur). (rechargebiomedical.com)
  • These efforts result in the id of ML216 and related analogs which have sub-micromolar BLM inhibition and display selectivity over related helicases. (immune-source.com)