Non-homologous DNA end joining and alternative pathways to double-strand break repair

Autoinhibition of the Nuclease ARTEMIS Is Mediated by a Physical Interaction between Its Catalytic and C-terminal Domains

(2017) Doris Niewolik et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Regulation of the DNA Damage Response by DNA-PKcs Inhibitory Phosphorylation of ATM

(2017) Yi Zhou et al.   MOLECULAR CELL

DNA Double-Strand Break Resection Occurs during Non-homologous End Joining in G1 but Is Distinct from Resection during Homologous Recombination

(2017) Ronja Biehs et al.   MOLECULAR CELL

Contribution of canonical nonhomologous end joining to chromosomal rearrangements is enhanced by ATM kinase deficiency

(2017) Ragini Bhargava et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

DNA-PKcs structure suggests an allosteric mechanism modulating DNA double-strand break repair

(2017) Bancinyane L. Sibanda et al.   SCIENCE

PAXX promotes KU accumulation at DNA breaks and is essential for end-joining in XLF-deficient mice

(2017) Xiangyu Liu et al.   Nature Communications

XLF deficiency results in reduced N-nucleotide addition during V(D)J recombination

(2016) H. IJspeert et al.   BLOOD

Mechanism and regulation of DNA end resection in eukaryotes

(2016) Lorraine S. Symington   CRITICAL REVIEWS IN BIOCHEMISTRY AND MOLECULAR BIOLOGY

DNA polymerase θ (POLQ), double-strand break repair, and cancer

(2016) Richard D. Wood et al.   DNA REPAIR

Synthetic lethality between PAXX and XLF in mammalian development

(2016) Gabriel Balmus et al.   GENES & DEVELOPMENT

Different DNA End Configurations Dictate Which NHEJ Components Are Most Important for Joining Efficiency

(2016) Howard H. Y. Chang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Mutations in XRCC4 cause primordial dwarfism without causing immunodeficiency

(2016) Shinta Saito et al.   JOURNAL OF HUMAN GENETICS

Nbs1 Converts the Human Mre11/Rad50 Nuclease Complex into an Endo/Exonuclease Machine Specific for Protein-DNA Adducts

(2016) Rajashree A. Deshpande et al.   MOLECULAR CELL

Essential Roles for Polymerase θ-Mediated End Joining in the Repair of Chromosome Breaks

(2016) David W. Wyatt et al.   MOLECULAR CELL

Phosphorylated CtIP Functions as a Co-factor of the MRE11-RAD50-NBS1 Endonuclease in DNA End Resection

(2016) Roopesh Anand et al.   MOLECULAR CELL

Sliding sleeves of XRCC4–XLF bridge DNA and connect fragments of broken DNA

(2016) Ineke Brouwer et al.   NATURE

Mechanisms underlying structural variant formation in genomic disorders

(2016) Claudia M. B. Carvalho et al.   NATURE REVIEWS GENETICS

Structure-Specific nuclease activities of Artemis and the Artemis: DNA-PKcs complex

(2016) Howard H.Y. Chang et al.   NUCLEIC ACIDS RESEARCH

Redundant function of DNA ligase 1 and 3 in alternative end-joining during immunoglobulin class switch recombination

(2016) Shahnaz Masani et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

PAXX and XLF DNA repair factors are functionally redundant in joining DNA breaks in a G1-arrested progenitor B-cell line

(2016) Vipul Kumar et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Repair Pathway Choices and Consequences at the Double-Strand Break

(2016) Raphael Ceccaldi et al.   TRENDS IN CELL BIOLOGY

Regulation of Single-Strand Annealing and its Role in Genome Maintenance

(2016) Ragini Bhargava et al.   TRENDS IN GENETICS

PAXX Is an Accessory c-NHEJ Factor that Associates with Ku70 and Has Overlapping Functions with XLF

(2016) Satish K. Tadi et al.   Cell Reports

Specific Roles of XRCC4 Paralogs PAXX and XLF during V(D)J Recombination

(2016) Chloé Lescale et al.   Cell Reports

Polymerase θ is a robust terminal transferase that oscillates between three different mechanisms during end-joining

(2016) Tatiana Kent et al.   eLife

Congenital defects in V(D)J recombination

(2015) Jean-Pierre de Villartay   BRITISH MEDICAL BULLETIN

Biochemical mechanism of DSB end resection and its regulation

(2015) James M. Daley et al.   DNA REPAIR

When natural mutants do not fit our expectations: the intriguing case of patients with XRCC4 mutations revealed by whole-exome sequencing

(2015) J.-P. de Villartay   EMBO Molecular Medicine

DCLRE1C(ARTEMIS) mutations causing phenotypes ranging from atypical severe combined immunodeficiency to mere antibody deficiency

(2015) Timo Volk et al.   HUMAN MOLECULAR GENETICS

PRKDC mutations associated with immunodeficiency, granuloma, and autoimmune regulator–dependent autoimmunity

(2015) Anne-Laure Mathieu et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Unifying the DNA End-processing Roles of the Artemis Nuclease

(2015) Howard H. Y. Chang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

XRCC4/XLF Interaction Is Variably Required for DNA Repair and Is Not Required for Ligase IV Stimulation

(2015) Sunetra Roy et al.   MOLECULAR AND CELLULAR BIOLOGY

Mammalian polymerase θ promotes alternative NHEJ and suppresses recombination

(2015) Pedro A. Mateos-Gomez et al.   NATURE

Essential role for polymerase specialization in cellular nonhomologous end joining

(2015) John M. Pryor et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

PAXX, a paralog of XRCC4 and XLF, interacts with Ku to promote DNA double-strand break repair

(2015) T. Ochi et al.   SCIENCE

Microhomology-Mediated End Joining: A Back-up Survival Mechanism or Dedicated Pathway?

(2015) Agnel Sfeir et al.   TRENDS IN BIOCHEMICAL SCIENCES

Cell Biology of Mitotic Recombination

(2015) Michael Lisby et al.   Cold Spring Harbor Perspectives in Biology

Analysis of deletion breakpoints from 1,092 humans reveals details of mutation mechanisms

(2015) Alexej Abyzov et al.   Nature Communications

Interactome analysis identifies a new paralogue of XRCC4 in non-homologous end joining DNA repair pathway

(2015) Mengtan Xing et al.   Nature Communications

Structure–Function Studies of DNA Polymerase λ

(2014) Katarzyna Bebenek et al.   BIOCHEMISTRY

Non-homologous end joining often uses microhomology: Implications for alternative end joining

(2014) Nicholas R. Pannunzio et al.   DNA REPAIR

The clinical impact of deficiency in DNA non-homologous end-joining

(2014) Lisa Woodbine et al.   DNA REPAIR

Evidence That the DNA Endonuclease ARTEMIS also Has Intrinsic 5′-Exonuclease Activity

(2014) Sicong Li et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Chromosomal Translocations in Human Cells Are Generated by Canonical Nonhomologous End-Joining

(2014) Hind Ghezraoui et al.   MOLECULAR CELL

Catalytic and Noncatalytic Roles of the CtIP Endonuclease in Double-Strand Break End Resection

(2014) Nodar Makharashvili et al.   MOLECULAR CELL

Sae2 promotes dsDNA endonuclease activity within Mre11–Rad50–Xrs2 to resect DNA breaks

(2014) Elda Cannavo et al.   NATURE

Sustained active site rigidity during synthesis by human DNA polymerase μ

(2014) Andrea F Moon et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

A Polymerase Theta-dependent repair pathway suppresses extensive genomic instability at endogenous G4 DNA sites

(2014) Wouter Koole et al.   Nature Communications

Phosphorylation of EXO1 by CDKs 1 and 2 regulates DNA end resection and repair pathway choice

(2014) Nozomi Tomimatsu et al.   Nature Communications

Mechanism of Suppression of Chromosomal Instability by DNA Polymerase POLQ

(2014) Matthew J. Yousefzadeh et al.   PLoS Genetics

PRKDC mutations in a SCID patient with profound neurological abnormalities

(2013) Lisa Woodbine et al.   JOURNAL OF CLINICAL INVESTIGATION

A Cell Cycle-Dependent Regulatory Circuit Composed of 53BP1-RIF1 and BRCA1-CtIP Controls DNA Repair Pathway Choice

(2013) Cristina Escribano-Díaz et al.   MOLECULAR CELL

Structure of the Catalytic Region of DNA Ligase IV in Complex with an Artemis Fragment Sheds Light on Double-Strand Break Repair

(2013) Takashi Ochi et al.   STRUCTURE

APLF promotes the assembly and activity of non-homologous end joining protein complexes

(2012) Gabrielle J Grundy et al.   EMBO JOURNAL

Artemis C-terminal region facilitates V(D)J recombination through its interactions with DNA Ligase IV and DNA-PKcs

(2012) Shruti Malu et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Structural Basis of DNA Ligase IV-Artemis Interaction in Nonhomologous End-Joining

(2012) Pablo De Ioannes et al.   Cell Reports

Mechanisms that Promote and Suppress Chromosomal Translocations in Lymphocytes

(2011) Monica Gostissa et al.   Annual Review of Immunology

Massive Genomic Rearrangement Acquired in a Single Catastrophic Event during Cancer Development

(2011) Philip J. Stephens et al.   CELL

Genome-wide Translocation Sequencing Reveals Mechanisms of Chromosome Breaks and Rearrangements in B Cells

(2011) Roberto Chiarle et al.   CELL

Polynucleotide Kinase and Aprataxin-like Forkhead-associated Protein (PALF) Acts as Both a Single-stranded DNA Endonuclease and a Single-Stranded DNA 3′ Exonuclease and Can Participate in DNA End Joining in a Biochemical System

(2011) Sicong Li et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

DNA Repair Factor APLF Is a Histone Chaperone

(2011) Pawan Vinod Mehrotra et al.   MOLECULAR CELL

Cell cycle regulation of DNA double-strand break end resection by Cdk1-dependent Dna2 phosphorylation

(2011) Xuefeng Chen et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

The Mechanism of Double-Strand DNA Break Repair by the Nonhomologous DNA End-Joining Pathway

(2010) Michael R. Lieber   Annual Review of Biochemistry

DNA-PKcs regulates a single-stranded DNA endonuclease activity of Artemis

(2010) Jiafeng Gu et al.   DNA REPAIR

Blunt-ended DNA double-strand breaks induced by endonucleases PvuII and EcoRV are poor substrates for repair in Saccharomyces cerevisiae

(2010) James W. Westmoreland et al.   DNA REPAIR

Ku prevents Exo1 and Sgs1-dependent resection of DNA ends in the absence of a functional MRX complex or Sae2

(2010) Eleni P Mimitou et al.   EMBO JOURNAL

Mitotic homologous recombination maintains genomic stability and suppresses tumorigenesis

(2010) Mary Ellen Moynahan et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Solution structures of the two PBZ domains from human APLF and their interaction with poly(ADP-ribose)

(2010) Sebastian Eustermann et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Synthesis-dependent microhomology-mediated end joining accounts for multiple types of repair junctions

(2010) Amy Marie Yu et al.   NUCLEIC ACIDS RESEARCH

Alternative end-joining catalyzes robust IgH locus deletions and translocations in the combined absence of ligase 4 and Ku70

(2010) C. Boboila et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Structure and identification of ADP-ribose recognition motifs of APLF and role in the DNA damage response

(2010) G.-Y. Li et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Dual Roles for DNA Polymerase Theta in Alternative End-Joining Repair of Double-Strand Breaks in Drosophila

(2010) Sze Ham Chan et al.   PLoS Genetics

The t(14;18)(q32;q21)/IGH-MALT1 translocation in MALT lymphomas contains templated nucleotide insertions and a major breakpoint region similar to follicular and mantle cell lymphoma

(2009) E. M. Murga Penas et al.   BLOOD

ATM and Artemis promote homologous recombination of radiation-induced DNA double-strand breaks in G2

(2009) Andrea Beucher et al.   EMBO JOURNAL

Human CtIP Mediates Cell Cycle Control of DNA End Resection and Double Strand Break Repair

(2009) Pablo Huertas et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Parp1 facilitates alternative NHEJ, whereas Parp2 suppresses IgH/c-myc translocations during immunoglobulin class switch recombination

(2009) Isabelle Robert et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Crystal structure of DNA-PKcs reveals a large open-ring cradle comprised of HEAT repeats

(2009) Bancinyane L. Sibanda et al.   NATURE

Sgs1 Helicase and Two Nucleases Dna2 and Exo1 Resect DNA Double-Strand Break Ends

(2008) Zhu Zhu et al.   CELL

RAD59 is required for efficient repair of simultaneous double-strand breaks resulting in translocations in Saccharomyces cerevisiae

(2008) Nicholas R. Pannunzio et al.   DNA REPAIR

Cell Cycle-dependent Complex Formation of BRCA1·CtIP·MRN Is Important for DNA Double-strand Break Repair

(2008) Longchuan Chen et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Altered kinetics of nonhomologous end joining and class switch recombination in ligase IV–deficient B cells

(2008) Li Han et al.   JOURNAL OF EXPERIMENTAL MEDICINE

A Biochemically Defined System for Coding Joint Formation in V(D)J Recombination

(2008) Haihui Lu et al.   MOLECULAR CELL

Sae2, Exo1 and Sgs1 collaborate in DNA double-strand break processing

(2008) Eleni P. Mimitou et al.   NATURE

Coordinate 5′ and 3′ endonucleolytic trimming of terminally blocked blunt DNA double-strand break ends by Artemis nuclease and DNA-dependent protein kinase

(2008) Steven M. Yannone et al.   NUCLEIC ACIDS RESEARCH

The Requirement of Artemis in Double-Strand Break Repair Depends on the Type of DNA Damage

(2007) Aya Kurosawa et al.   DNA AND CELL BIOLOGY

Evidence that base stacking potential in annealed 3′ overhangs determines polymerase utilization in yeast nonhomologous end joining

(2007) James M. Daley et al.   DNA REPAIR