dna helicases


Summary: Proteins that catalyze the unwinding of duplex DNA during replication by binding cooperatively to single-stranded regions of DNA or to short regions of duplex DNA that are undergoing transient opening. In addition DNA helicases are DNA-dependent ATPases that harness the free energy of ATP hydrolysis to translocate DNA strands.

Top Publications

  1. Brosh R. DNA helicases involved in DNA repair and their roles in cancer. Nat Rev Cancer. 2013;13:542-58 pubmed publisher
    ..Although considerable effort has been made to understand the functions of DNA helicases that are important for genomic stability and cellular homeostasis, the complexity of the DNA damage response ..
  2. Hochstrasser M, Taylor D, Bhat P, Guegler C, Sternberg S, Nogales E, et al. CasA mediates Cas3-catalyzed target degradation during CRISPR RNA-guided interference. Proc Natl Acad Sci U S A. 2014;111:6618-23 pubmed publisher
    ..Together, these data show that the CasA subunit of Cascade functions as an essential partner of Cas3 by recognizing DNA target sites and positioning Cas3 adjacent to the PAM to ensure cleavage. ..
  3. Perumal S, Nelson S, Benkovic S. Interaction of T4 UvsW helicase and single-stranded DNA binding protein gp32 through its carboxy-terminal acidic tail. J Mol Biol. 2013;425:2823-39 pubmed publisher
    ..This ability of UvsW to remove gp32 from ssDNA may explain its ability to enhance the strand invasion activity of the T4 recombinase (UvsX) and suggests a possible new role for UvsW in gp32-mediated DNA transactions...
  4. Betous R, Couch F, Mason A, Eichman B, Manosas M, Cortez D. Substrate-selective repair and restart of replication forks by DNA translocases. Cell Rep. 2013;3:1958-69 pubmed publisher
    ..Our findings identify the important substrates of SMARCAL1 in fork repair, suggest that RecG and SMARCAL1 are functional orthologs, and provide a comprehensive model of fork repair by these DNA translocases. ..
  5. Porrúa O, Libri D. A bacterial-like mechanism for transcription termination by the Sen1p helicase in budding yeast. Nat Struct Mol Biol. 2013;20:884-91 pubmed publisher
    ..We also show that termination is inhibited by RNA-DNA hybrids. Our results elucidate the role of Sen1p in controlling pervasive transcription. ..
  6. Tian F, Xu F, Zhang Z, Ge J, Wei Z, Xu X, et al. Expression of CHD1L in bladder cancer and its influence on prognosis and survival. Tumour Biol. 2013;34:3687-90 pubmed publisher
    ..In conclusion, CHD1L is likely to be a valuable marker for carcinogenesis and progression of BC. It might be used as an important diagnostic and prognostic marker for BC patients. ..
  7. Couch F, Bansbach C, Driscoll R, Luzwick J, Glick G, Betous R, et al. ATR phosphorylates SMARCAL1 to prevent replication fork collapse. Genes Dev. 2013;27:1610-23 pubmed publisher
    ..Thus, phosphorylation of SMARCAL1 is one mechanism by which ATR prevents fork collapse, promotes the completion of DNA replication, and maintains genome integrity. ..
  8. Rudolph C, Upton A, Stockum A, Nieduszynski C, Lloyd R. Avoiding chromosome pathology when replication forks collide. Nature. 2013;500:608-11 pubmed publisher
    ..The results reported raise the question of whether replication fork collisions have pathogenic potential for organisms that exploit several origins to replicate each chromosome. ..
  9. Wiestler B, Capper D, Holland Letz T, Korshunov A, von Deimling A, Pfister S, et al. ATRX loss refines the classification of anaplastic gliomas and identifies a subgroup of IDH mutant astrocytic tumors with better prognosis. Acta Neuropathol. 2013;126:443-51 pubmed publisher
    ..ATRX status helps better define the clinically and morphologically mixed group of AOA, since ATRX loss is a hallmark of astrocytic tumors. Furthermore, ATRX loss defines a subgroup of astrocytic tumors with a favorable prognosis...

More Information


  1. Clynes D, Higgs D, Gibbons R. The chromatin remodeller ATRX: a repeat offender in human disease. Trends Biochem Sci. 2013;38:461-6 pubmed publisher
    ..Here, we provide a mechanistic overview of the role of ATRX in each of these processes, and propose how they may be connected to give rise to seemingly disparate human diseases. ..
  2. Abd Wahab S, Choi M, Bianco P. Characterization of the ATPase activity of RecG and RuvAB proteins on model fork structures reveals insight into stalled DNA replication fork repair. J Biol Chem. 2013;288:26397-409 pubmed publisher
    ..Only once the fork has been regressed and the DNA is relaxed can RuvAB bind to a RecG-extruded Holliday junction. ..
  3. Vatta M, Niu Z, Lupski J, Putnam P, Spoonamore K, Fang P, et al. Evidence for replicative mechanism in a CHD7 rearrangement in a patient with CHARGE syndrome. Am J Med Genet A. 2013;161A:3182-6 pubmed publisher
    ..Although likely rare, CGR may represent an overlooked mechanism in subjects with CHARGE syndrome that can be missed by current sequencing and dosage assays. ..
  4. Manosas M, Perumal S, Bianco P, BIANCO P, Ritort F, Benkovic S, et al. RecG and UvsW catalyse robust DNA rewinding critical for stalled DNA replication fork rescue. Nat Commun. 2013;4:2368 pubmed publisher
    ..The overall results support a general mechanism for monomeric rewinding enzymes...
  5. Redzej A, Ilangovan A, Lang S, Gruber C, Topf M, Zangger K, et al. Structure of a translocation signal domain mediating conjugative transfer by type IV secretion systems. Mol Microbiol. 2013;89:324-33 pubmed publisher
    ..Overall, this study provides the first evidence that translocation signals can be part of larger structural scaffolds, overlapping with translocation-independent activities. ..
  6. Ji X, Li J, Zhu L, Cai J, Zhang J, Qu Y, et al. CHD1L promotes tumor progression and predicts survival in colorectal carcinoma. J Surg Res. 2013;185:84-91 pubmed publisher
    ..Functional studies showed that overexpression of CHD1L could promote G1/S-phase cells and inhibit apoptosis. Our results suggest that CHD1L is the target oncogene within the 1q21 amplicon and plays a pivotal role in CRC pathogenesis. ..
  7. Gilhooly N, Gwynn E, Dillingham M. Superfamily 1 helicases . Front Biosci (Schol Ed). 2013;5:206-16 pubmed
    ..This review discusses our current understanding of the structure, function and mechanism of Superfamily 1 helicases. ..
  8. Alzu A, Bermejo R, Begnis M, Lucca C, Piccini D, Carotenuto W, et al. Senataxin associates with replication forks to protect fork integrity across RNA-polymerase-II-transcribed genes. Cell. 2012;151:835-846 pubmed publisher
    Transcription hinders replication fork progression and stability. The ATR checkpoint and specialized DNA helicases assist DNA synthesis across transcription units to protect genome integrity...
  9. Ha T, Kozlov A, Lohman T. Single-molecule views of protein movement on single-stranded DNA. Annu Rev Biophys. 2012;41:295-319 pubmed publisher
  10. Le Guen T, Jullien L, Touzot F, Schertzer M, Gaillard L, Perderiset M, et al. Human RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instability. Hum Mol Genet. 2013;22:3239-49 pubmed publisher
    ..Collectively, these results identify RTEL1 as a novel HHS-causing gene and highlight its role as a genomic caretaker in humans. ..
  11. Kang Y, Galal W, Farina A, Tappin I, Hurwitz J. Properties of the human Cdc45/Mcm2-7/GINS helicase complex and its action with DNA polymerase epsilon in rolling circle DNA synthesis. Proc Natl Acad Sci U S A. 2012;109:6042-7 pubmed publisher
    ..These findings suggest that the coordinated action of these replication complexes supports leading strand synthesis. ..
  12. Sinkunas T, Gasiunas G, Waghmare S, Dickman M, Barrangou R, Horvath P, et al. In vitro reconstitution of Cascade-mediated CRISPR immunity in Streptococcus thermophilus. EMBO J. 2013;32:385-94 pubmed publisher
    ..These findings establish a molecular basis for CRISPR immunity in St-CRISPR4-Cas and other Type I systems. ..
  13. Klink B, Miletic H, Stieber D, Huszthy P, Campos Valenzuela J, Valenzuela J, et al. A novel, diffusely infiltrative xenograft model of human anaplastic oligodendroglioma with mutations in FUBP1, CIC, and IDH1. PLoS ONE. 2013;8:e59773 pubmed publisher
    ..The unexpected property, that the cells fail to grow in vitro even after passage through the mouse, allows us to uniquely investigate the relationship of this oligodendroglioma with the in vivo microenvironment...
  14. Mahdi A, Briggs G, Lloyd R. Modulation of DNA damage tolerance in Escherichia coli recG and ruv strains by mutations affecting PriB, the ribosome and RNA polymerase. Mol Microbiol. 2012;86:675-91 pubmed publisher
  15. Fischer C, Tomko E, Wu C, Lohman T. Fluorescence methods to study DNA translocation and unwinding kinetics by nucleic acid motors. Methods Mol Biol. 2012;875:85-104 pubmed publisher
  16. Knoll A, Higgins J, Seeliger K, Reha S, Dangel N, Bauknecht M, et al. The Fanconi anemia ortholog FANCM ensures ordered homologous recombination in both somatic and meiotic cells in Arabidopsis. Plant Cell. 2012;24:1448-64 pubmed publisher
    ..However, this is insufficient to ensure the formation of an obligate crossover. Thus, At-FANCM is not only a safeguard for genome stability in somatic cells but is an important factor in the control of meiotic crossover formation. ..
  17. Weider M, K spert M, Bischof M, Vogl M, Hornig J, Loy K, et al. Chromatin-remodeling factor Brg1 is required for Schwann cell differentiation and myelination. Dev Cell. 2012;23:193-201 pubmed publisher
    ..Our results demonstrate that the transcription factor-mediated recruitment of the chromatin-remodeling machinery to specific genomic loci is an essential driving force for Schwann cell differentiation and myelination...
  18. Bailey A, Gray L, Pavelitz T, Newman J, Horibata K, Tanaka K, et al. The conserved Cockayne syndrome B-piggyBac fusion protein (CSB-PGBD3) affects DNA repair and induces both interferon-like and innate antiviral responses in CSB-null cells. DNA Repair (Amst). 2012;11:488-501 pubmed publisher
    ..Our data suggest that the CSB-PGBD3 fusion protein is important in both health and disease, and could play a role in Cockayne syndrome. ..
  19. Manosas M, Perumal S, Croquette V, Benkovic S. Direct observation of stalled fork restart via fork regression in the T4 replication system. Science. 2012;338:1217-20 pubmed publisher
    ..The initiation of the repair process requires partial replisome disassembly via the departure of the replicative helicase. The results support the role of fork regression pathways in DNA repair. ..
  20. Toseland C, Powell B, Webb M. ATPase cycle and DNA unwinding kinetics of RecG helicase. PLoS ONE. 2012;7:e38270 pubmed publisher
    ..Evidence is provided that the main structural rearrangements, which bring about DNA unwinding, are linked to these states...
  21. He W, Zhou J, Cai M, Xiao X, Liao Y, Kung H, et al. CHD1L protein is overexpressed in human ovarian carcinomas and is a novel predictive biomarker for patients survival. BMC Cancer. 2012;12:437 pubmed publisher
  22. Thakur R, Basavaraju S, Somyajit K, Jain A, Subramanya S, Muniyappa K, et al. Evidence for the role of Mycobacterium tuberculosis RecG helicase in DNA repair and recombination. FEBS J. 2013;280:1841-60 pubmed publisher
    ..Together, these results support that MtRecG plays an important role in processes related to DNA metabolism under normal as well as stress conditions. ..
  23. De Septenville A, Duigou S, Boubakri H, Michel B. Replication fork reversal after replication-transcription collision. PLoS Genet. 2012;8:e1002622 pubmed publisher
    ..Our results suggest that replication fork reversal occurs after replication-transcription head-on collision, and we propose that it promotes the action of the accessory replicative helicases that dislodge the obstacle. ..
  24. Kolesar P, Sarangi P, Altmannova V, Zhao X, Krejci L. Dual roles of the SUMO-interacting motif in the regulation of Srs2 sumoylation. Nucleic Acids Res. 2012;40:7831-43 pubmed publisher
    ..Our findings suggest a potential mechanism for the equilibrium of sumoylated and PCNA-bound pools of Srs2 in cells. ..
  25. Byrd A, Matlock D, Bagchi D, Aarattuthodiyil S, Harrison D, Croquette V, et al. Dda helicase tightly couples translocation on single-stranded DNA to unwinding of duplex DNA: Dda is an optimally active helicase. J Mol Biol. 2012;420:141-54 pubmed publisher
    ..The V(un)/V(trans) value of 0.96 places Dda in a unique category of being an essentially "perfectly" active helicase. ..
  26. Tang J, Cho N, Cui G, Manion E, Shanbhag N, Botuyan M, et al. Acetylation limits 53BP1 association with damaged chromatin to promote homologous recombination. Nat Struct Mol Biol. 2013;20:317-25 pubmed publisher
    ..These findings demonstrate that acetylation in cis to H4K20me2 regulates relative BRCA1 and 53BP1 DSB chromatin occupancy to direct DNA repair mechanism. ..
  27. Yardimci H, Wang X, Loveland A, Tappin I, Rudner D, Hurwitz J, et al. Bypass of a protein barrier by a replicative DNA helicase. Nature. 2012;492:205-9 pubmed publisher
    Replicative DNA helicases generally unwind DNA as a single hexamer that encircles and translocates along one strand of the duplex while excluding the complementary strand (known as steric exclusion)...
  28. Du W, Rani R, Sipple J, Schick J, Myers K, Mehta P, et al. The FA pathway counteracts oxidative stress through selective protection of antioxidant defense gene promoters. Blood. 2012;119:4142-51 pubmed publisher
    ..In addition, oxidative stress-induced FANCD2 ubiquitination is required for the formation of a FA-BRG1-promoter complex. Taken together, these data identify a role for the FA pathway in cellular antioxidant defense. ..
  29. Diray Arce J, Liu B, Cupp J, Hunt T, Nielsen B. The Arabidopsis At1g30680 gene encodes a homologue to the phage T7 gp4 protein that has both DNA primase and DNA helicase activities. BMC Plant Biol. 2013;13:36 pubmed publisher
    ..The results presented here indicate that the Arabidopsis phage T7 gp4/Twinkle homologue has both DNA primase and DNA helicase activities and may provide these functions for organelle DNA replication. ..
  30. Costelloe T, Louge R, Tomimatsu N, Mukherjee B, Martini E, Khadaroo B, et al. The yeast Fun30 and human SMARCAD1 chromatin remodellers promote DNA end resection. Nature. 2012;489:581-4 pubmed publisher
    ..These findings unveil an evolutionarily conserved role for the Fun30 and SMARCAD1 chromatin remodellers in controlling end resection, homologous recombination and genome stability in the context of chromatin. ..
  31. Yokota H, Chujo Y, Harada Y. Single-molecule imaging of the oligomer formation of the nonhexameric Escherichia coli UvrD helicase. Biophys J. 2013;104:924-33 pubmed publisher
  32. Daee D, Ferrari E, Longerich S, Zheng X, Xue X, Branzei D, et al. Rad5-dependent DNA repair functions of the Saccharomyces cerevisiae FANCM protein homolog Mph1. J Biol Chem. 2012;287:26563-75 pubmed publisher
    ..These studies reveal the functional conservation of the FA pathway and validate the yeast model for future studies to further elucidate the mechanism of the FA pathway. ..
  33. de Wilde R, Heaphy C, Maitra A, Meeker A, Edil B, Wolfgang C, et al. Loss of ATRX or DAXX expression and concomitant acquisition of the alternative lengthening of telomeres phenotype are late events in a small subset of MEN-1 syndrome pancreatic neuroendocrine tumors. Mod Pathol. 2012;25:1033-9 pubmed publisher
  34. Milenkovic D, Matic S, Kühl I, Ruzzenente B, Freyer C, Jemt E, et al. TWINKLE is an essential mitochondrial helicase required for synthesis of nascent D-loop strands and complete mtDNA replication. Hum Mol Genet. 2013;22:1983-93 pubmed publisher
    ..Our data thus suggest that the relative levels of abortive D-loop synthesis versus complete mtDNA replication are regulated and may provide a mechanism to control progression to complete mtDNA replication. ..
  35. Nishimura K, Ishiai M, Horikawa K, Fukagawa T, Takata M, Takisawa H, et al. Mcm8 and Mcm9 form a complex that functions in homologous recombination repair induced by DNA interstrand crosslinks. Mol Cell. 2012;47:511-22 pubmed publisher
    ..Mcm8-9 works downstream of the FA and BRCA2/Rad51 pathways, and is required for HR that promotes sister chromatid exchanges, probably as a hexameric ATPase/helicase...
  36. Kothandapani A, Gopalakrishnan K, Kahali B, Reisman D, Patrick S. Downregulation of SWI/SNF chromatin remodeling factor subunits modulates cisplatin cytotoxicity. Exp Cell Res. 2012;318:1973-86 pubmed publisher
    ..Based on these results, we propose that SWI/SNF chromatin remodeling complex modulates cisplatin cytotoxicity by facilitating efficient repair of the cisplatin DNA lesions. ..
  37. Bergman J, de Ronde W, Jongmans M, Wolffenbuttel B, Drop S, Hermus A, et al. The results of CHD7 analysis in clinically well-characterized patients with Kallmann syndrome. J Clin Endocrinol Metab. 2012;97:E858-62 pubmed publisher
    ..Identifying a CHD7 mutation has important clinical implications for the surveillance and genetic counseling of patients. ..
  38. Zhang J, Chen Q. Far upstream element binding protein 1: a commander of transcription, translation and beyond. Oncogene. 2013;32:2907-16 pubmed publisher
    ..This review summarizes biochemical features of FBP1, its mechanism of action, FBP family members and the involvement of FBP1 in carcinogenesis. ..
  39. Fabre A, Charroux B, Martinez Vinson C, Roquelaure B, Odul E, Sayar E, et al. SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome. Am J Hum Genet. 2012;90:689-92 pubmed publisher
    ..Our results show that mutations in genes encoding cofactors of the human Ski complex cause syndromic diarrhea, establishing a link between defects of the human exosome complex and a Mendelian disease. ..
  40. Gottschalk A, Trivedi R, Conaway J, Conaway R. Activation of the SNF2 family ATPase ALC1 by poly(ADP-ribose) in a stable ALC1·PARP1·nucleosome intermediate. J Biol Chem. 2012;287:43527-32 pubmed publisher
    ..Taken together, our findings are consistent with the model that PAR present on PARylated PARP1 acts as an allosteric effector of ALC1 nucleosome remodeling activity. ..
  41. Janssen N, Bergman J, Swertz M, Tranebjaerg L, Lodahl M, Schoots J, et al. Mutation update on the CHD7 gene involved in CHARGE syndrome. Hum Mutat. 2012;33:1149-60 pubmed publisher
    ..CHD7.org. In addition, we summarize the latest data on CHD7 expression studies, animal models, and functional studies, and we discuss the latest clinical insights into CHARGE syndrome. ..
  42. Velez Cruz R, Egly J. Cockayne syndrome group B (CSB) protein: at the crossroads of transcriptional networks. Mech Ageing Dev. 2013;134:234-42 pubmed publisher
    ..Moreover, the study of CS could further our knowledge of the aging process. ..
  43. Yüce O, West S. Senataxin, defective in the neurodegenerative disorder ataxia with oculomotor apraxia 2, lies at the interface of transcription and the DNA damage response. Mol Cell Biol. 2013;33:406-17 pubmed publisher
  44. Balasingham S, Zegeye E, Homberset H, Rossi M, Laerdahl J, Bohr V, et al. Enzymatic activities and DNA substrate specificity of Mycobacterium tuberculosis DNA helicase XPB. PLoS ONE. 2012;7:e36960 pubmed publisher
    ..We also found that Mtb XPB efficiently catalyzed ATP-independent annealing of complementary DNA strands. These observations significantly enhance our understanding of the biological roles of Mtb XPB. ..
  45. Sahm F, Koelsche C, Meyer J, Pusch S, Lindenberg K, Mueller W, et al. CIC and FUBP1 mutations in oligodendrogliomas, oligoastrocytomas and astrocytomas. Acta Neuropathol. 2012;123:853-60 pubmed publisher
    ..CIC and FUBP1 mutations exclusively occurred in presence of either IDH1 or IDH2 mutations. Our data confirm CIC and FUBP1 mutations in oligodendrogliomas and demonstrate the presence of these mutations in oligoastrocytomas...
  46. Xie W, Ling T, Zhou Y, Feng W, Zhu Q, Stunnenberg H, et al. The chromatin remodeling complex NuRD establishes the poised state of rRNA genes characterized by bivalent histone modifications and altered nucleosome positions. Proc Natl Acad Sci U S A. 2012;109:8161-6 pubmed publisher
    ..The results uncover a unique mechanism by which ATP-dependent chromatin remodeling complexes with opposing activities establish a specific chromatin state and regulate transcription. ..
  47. Nimonkar A, Dombrowski C, Siino J, Stasiak A, Stasiak A, Kowalczykowski S. Saccharomyces cerevisiae Dmc1 and Rad51 proteins preferentially function with Tid1 and Rad54 proteins, respectively, to promote DNA strand invasion during genetic recombination. J Biol Chem. 2012;287:28727-37 pubmed publisher
    ..Our data are consistent with the hypothesis that Rad51-Rad54 function together to promote intersister DNA strand exchange, whereas Dmc1-Tid1 tilt the bias toward interhomolog DNA strand exchange. ..
  48. Chisty L, Toseland C, Fili N, Mashanov G, Dillingham M, Molloy J, et al. Monomeric PcrA helicase processively unwinds plasmid lengths of DNA in the presence of the initiator protein RepD. Nucleic Acids Res. 2013;41:5010-23 pubmed publisher
    ..However, the fastest dsDNA unwinding rates measured in the single-molecule unwinding assays approached the PcrA translocation speed measured on ssDNA. ..
  49. Fugger K, Chu W, Haahr P, Kousholt A, Beck H, Payne M, et al. FBH1 co-operates with MUS81 in inducing DNA double-strand breaks and cell death following replication stress. Nat Commun. 2013;4:1423 pubmed publisher
    ..Our data suggest that FBH1 helicase activity is required to eliminate cells with excessive replication stress through the generation of MUS81-induced DNA double-strand breaks. ..
  50. Betous R, Glick G, Zhao R, Cortez D. Identification and characterization of SMARCAL1 protein complexes. PLoS ONE. 2013;8:e63149 pubmed publisher
    ..These data suggest that RPA brings a complex of SMARCAL1 and WRN to stalled forks, but that they may act in different pathways to promote fork repair and restart. ..
  51. Westra E, Swarts D, Staals R, Jore M, Brouns S, van der Oost J. The CRISPRs, they are a-changin': how prokaryotes generate adaptive immunity. Annu Rev Genet. 2012;46:311-39 pubmed publisher
    ..Because several excellent recent reviews cover all CRISPR subtypes, we mainly focus on a detailed description of the type I-E CRISPR/Cas system of the model bacterium Escherichia coli K12...
  52. Arbore C, Lewis L, Webb M. Kinetic mechanism of initiation by RepD as a part of asymmetric, rolling circle plasmid unwinding. Biochemistry. 2012;51:3684-93 pubmed publisher
    ..The equilibrium constant of the nicking reaction, which involves a transesterification to form a phosphotyrosine bond within the RepD active site, is close to unity...
  53. Marini V, Krejci L. Unwinding of synthetic replication and recombination substrates by Srs2. DNA Repair (Amst). 2012;11:789-98 pubmed publisher
    ..These biochemical results help us understand the possible role of Srs2 in the processing of stalled or blocked replication forks as a part of post-replication repair as well as homologous recombination (HR). ..
  54. Sanyal G, Doig P. Bacterial DNA replication enzymes as targets for antibacterial drug discovery. Expert Opin Drug Discov. 2012;7:327-39 pubmed publisher
  55. Uringa E, Lisaingo K, Pickett H, Brind Amour J, Rohde J, Zelensky A, et al. RTEL1 contributes to DNA replication and repair and telomere maintenance. Mol Biol Cell. 2012;23:2782-92 pubmed publisher
    ..We propose that mRtel1 is a key protein for DNA replication, recombination, and repair and efficient elongation of telomeres by telomerase. ..
  56. Hoadley K, Xue Y, Ling C, Takata M, Wang W, Keck J. Defining the molecular interface that connects the Fanconi anemia protein FANCM to the Bloom syndrome dissolvasome. Proc Natl Acad Sci U S A. 2012;109:4437-42 pubmed publisher
    ..This study provides a molecular view of the RMI/FANCM complex and highlights a key interface utilized in coordinating the activities of two critical eukaryotic DNA-damage repair machines...
  57. Walne A, Vulliamy T, Kirwan M, Plagnol V, Dokal I. Constitutional mutations in RTEL1 cause severe dyskeratosis congenita. Am J Hum Genet. 2013;92:448-53 pubmed publisher
    ..They also demonstrate the severe multisystem consequences of its dysfunction...
  58. López Perrote A, Muñoz Hernández H, Gil D, Llorca O. Conformational transitions regulate the exposure of a DNA-binding domain in the RuvBL1-RuvBL2 complex. Nucleic Acids Res. 2012;40:11086-99 pubmed publisher
    ..These findings resolve some of the controversies in the structure of RuvBL1-RuvBL2 by revealing a mechanism that extends the complex by adjustments in DII. ..
  59. Willis M, Homeister J, Rosson G, Annayev Y, Holley D, Holly S, et al. Functional redundancy of SWI/SNF catalytic subunits in maintaining vascular endothelial cells in the adult heart. Circ Res. 2012;111:e111-22 pubmed publisher
  60. Petukhov M, Dagkessamanskaja A, Bommer M, Barrett T, Tsaneva I, Yakimov A, et al. Large-scale conformational flexibility determines the properties of AAA+ TIP49 ATPases. Structure. 2012;20:1321-31 pubmed publisher
    ..This might be similar to the effects of conformations adopted by TIP49 heterohexamers. ..
  61. Limpert A, Bai S, Narayan M, Wu J, Yoon S, Carter B, et al. NF-κB forms a complex with the chromatin remodeler BRG1 to regulate Schwann cell differentiation. J Neurosci. 2013;33:2388-97 pubmed publisher
    ..These findings delineate a novel mechanism whereby axonal signals promote myelination through the remodeling of chromatin structure. ..
  62. Insco M, Bailey A, Kim J, Olivares G, Wapinski O, Tam C, et al. A self-limiting switch based on translational control regulates the transition from proliferation to differentiation in an adult stem cell lineage. Cell Stem Cell. 2012;11:689-700 pubmed publisher
    ..TRIM-NHL homologs across species facilitate the switch from proliferation to differentiation, suggesting a conserved developmentally programmed tumor suppressor mechanism. ..
  63. Love C, Sun Z, Jima D, Li G, Zhang J, Miles R, et al. The genetic landscape of mutations in Burkitt lymphoma. Nat Genet. 2012;44:1321-5 pubmed publisher
    ..We show experimentally that ID3 mutations promote cell cycle progression and proliferation. Our work thus elucidates commonly occurring gene-coding mutations in Burkitt lymphoma and implicates ID3 as a new tumor suppressor gene...
  64. Scheibye Knudsen M, Ramamoorthy M, Sykora P, Maynard S, Lin P, Minor R, et al. Cockayne syndrome group B protein prevents the accumulation of damaged mitochondria by promoting mitochondrial autophagy. J Exp Med. 2012;209:855-69 pubmed publisher
    ..Our data imply that CSB acts as an mtDNA damage sensor, inducing mitochondrial autophagy in response to stress, and that pharmacological modulators of autophagy are potential treatment options for this accelerated aging phenotype. ..
  65. Westra E, van Erp P, Künne T, Wong S, Staals R, Seegers C, et al. CRISPR immunity relies on the consecutive binding and degradation of negatively supercoiled invader DNA by Cascade and Cas3. Mol Cell. 2012;46:595-605 pubmed publisher
    ..The target is then progressively unwound and cleaved by the joint ATP-dependent helicase activity and Mg(2+)-dependent HD-nuclease activity of Cas3, leading to complete target DNA degradation and invader neutralization...
  66. Izumi N, Yamashita A, Ohno S. Integrated regulation of PIKK-mediated stress responses by AAA+ proteins RUVBL1 and RUVBL2. Nucleus. 2012;3:29-43 pubmed publisher
    ..We also discuss a putative "PIKK regulatory chaperone complex" including other PIKK regulators, Hsp90 and the Tel2 complex. ..
  67. Baradaran Heravi A, Raams A, Lubieniecka J, Cho K, Dehaai K, Basiratnia M, et al. SMARCAL1 deficiency predisposes to non-Hodgkin lymphoma and hypersensitivity to genotoxic agents in vivo. Am J Med Genet A. 2012;158A:2204-13 pubmed publisher
    ..These data, which identify an increased prevalence of NHL in SIOD and confirm hypersensitivity to DNA damaging agents in vivo, provide guidance for the management of SIOD patients. ..
  68. Oh S, Wang Y, Zimbric J, Hendrickson E. Human LIGIV is synthetically lethal with the loss of Rad54B-dependent recombination and is required for certain chromosome fusion events induced by telomere dysfunction. Nucleic Acids Res. 2013;41:1734-49 pubmed publisher
  69. Wright N, Raththagala M, Hemmis C, Edwards S, Curtis J, Krueger S, et al. Solution structure and small angle scattering analysis of TraI (381-569). Proteins. 2012;80:2250-61 pubmed publisher
    ..These results suggest a possible physical explanation for the apparent negative cooperativity between the nickase and ssDNA binding domain. ..
  70. Liu X, Gerges N, Korshunov A, Sabha N, Khuong Quang D, Fontebasso A, et al. Frequent ATRX mutations and loss of expression in adult diffuse astrocytic tumors carrying IDH1/IDH2 and TP53 mutations. Acta Neuropathol. 2012;124:615-25 pubmed publisher
    ..Combined alteration of these genes may contribute to drive the neoplastic growth in a major subset of diffuse astrocytomas in adults...
  71. Piazza A, Serero A, Boulé J, Legoix né P, Lopes J, Nicolas A. Stimulation of gross chromosomal rearrangements by the human CEB1 and CEB25 minisatellites in Saccharomyces cerevisiae depends on G-quadruplexes or Cdc13. PLoS Genet. 2012;8:e1003033 pubmed publisher
    ..Furthermore, we analyzed the minisatellites' distribution in the human genome and discuss their potential role to trigger subtelomeric rearrangements. ..
  72. Cho H, Song M, Choi S, Kim J, Lee J, Kim U, et al. Genetic analysis of the CHD7 gene in Korean patients with CHARGE syndrome. Gene. 2013;517:164-8 pubmed publisher
    ..Our study demonstrates the importance of mutational screening of CHD7 in patients who have been diagnosed with other syndromes but display clinical features of CHARGE syndrome. ..
  73. Rousseau L, Etienne O, Roque T, Desmaze C, Haton C, Mouthon M, et al. In vivo importance of homologous recombination DNA repair for mouse neural stem and progenitor cells. PLoS ONE. 2012;7:e37194 pubmed publisher
    ..Altogether our data support the existence of RAD54-dependent and -independent homologous recombination pathways. ..
  74. Karpenshif Y, Bernstein K. From yeast to mammals: recent advances in genetic control of homologous recombination. DNA Repair (Amst). 2012;11:781-8 pubmed publisher
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