Genomes and Genes
Gene Symbol: DCLRE1C
Description: DNA cross-link repair 1C
Alias: A-SCID, DCLREC1C, RS-SCID, SCIDA, SNM1C, protein artemis, DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae), SNM1 homolog C, SNM1-like protein, severe combined immunodeficiency, type a (Athabascan)
- Poinsignon C, de Chasseval R, Soubeyrand S, Moshous D, Fischer A, Haché R, et al. Phosphorylation of Artemis following irradiation-induced DNA damage. Eur J Immunol. 2004;34:3146-55 pubmed..Thus, Artemis is an effector of DNA repair that can be phosphorylated by ATM, and possibly by DNA-PKcs and ATR depending upon the type of DNA damage. ..
- Zhang X, Succi J, Feng Z, Prithivirajsingh S, Story M, Legerski R. Artemis is a phosphorylation target of ATM and ATR and is involved in the G2/M DNA damage checkpoint response. Mol Cell Biol. 2004;24:9207-20 pubmed..These results define Artemis as having a checkpoint function and suggest that the radiosensitivity and chromosomal instability of Artemis-deficient cells may be due to defects in cell cycle responses after DNA damage. ..
- Goodarzi A, Yu Y, Riballo E, Douglas P, Walker S, Ye R, et al. DNA-PK autophosphorylation facilitates Artemis endonuclease activity. EMBO J. 2006;25:3880-9 pubmed..These findings demonstrate that DNA-PK autophosphorylation regulates Artemis access to DNA ends, providing insight into the mechanism of Artemis mediated DNA end processing. ..
- Ma Y, Lu H, Tippin B, Goodman M, Shimazaki N, Koiwai O, et al. A biochemically defined system for mammalian nonhomologous DNA end joining. Mol Cell. 2004;16:701-13 pubmed..The XRCC4:DNA ligase IV complex is able to ligate one strand that has only minimal base pairing with the antiparallel strand. This important aspect of the ligation leads to an iterative strand-processing model for the steps of NHEJ. ..
- Dudasova Z, Chovanec M. Artemis, a novel guardian of the genome. Neoplasma. 2003;50:311-8 pubmed..Biochemical and structural properties of the Artemis proteins are reviewed and integrated into the processes of V(D)J recombination and NHEJ. A genomic caretaker function is assigned to Artemis. ..
- Kobayashi N, Agematsu K, Sugita K, Sako M, Nonoyama S, Yachie A, et al. Novel Artemis gene mutations of radiosensitive severe combined immunodeficiency in Japanese families. Hum Genet. 2003;112:348-52 pubmed
- Wang J, Pluth J, Cooper P, Cowan M, Chen D, Yannone S. Artemis deficiency confers a DNA double-strand break repair defect and Artemis phosphorylation status is altered by DNA damage and cell cycle progression. DNA Repair (Amst). 2005;4:556-70 pubmed..Here we show that Artemis-deficient cells from Athabascan-speaking Native American SCID patients (SCIDA) display significantly elevated sensitivity to ionizing radiation (IR) but only a very subtle defect in DNA double-..
- Pannicke U, Ma Y, Hopfner K, Niewolik D, Lieber M, Schwarz K. Functional and biochemical dissection of the structure-specific nuclease ARTEMIS. EMBO J. 2004;23:1987-97 pubmed..These results indicate that the hairpin-opening activity of ARTEMIS and/or its overhang endonucleolytic activity are necessary but its exonuclease activity is not sufficient for the process of V(D)J recombination. ..
- Riballo E, Kühne M, Rief N, Doherty A, Smith G, Recio M, et al. A pathway of double-strand break rejoining dependent upon ATM, Artemis, and proteins locating to gamma-H2AX foci. Mol Cell. 2004;16:715-24 pubmed..The significant radiosensitivity of Artemis-deficient cells demonstrates the importance of this component of DSB repair to survival. ..
- Moshous D, Callebaut I, de Chasseval R, Corneo B, Cavazzana Calvo M, Le Deist F, et al. Artemis, a novel DNA double-strand break repair/V(D)J recombination protein, is mutated in human severe combined immune deficiency. Cell. 2001;105:177-86 pubmed..Protein sequence analysis strongly suggests that Artemis belongs to the metallo-beta-lactamase superfamily. ..
- Kurosawa A, Adachi N. Functions and regulation of Artemis: a goddess in the maintenance of genome integrity. J Radiat Res. 2010;51:503-9 pubmed..Therefore, understanding Artemis function may give us profound insights into the DNA repair network. In this review, we summarize the functions and regulation of Artemis. ..
- van der Burg M, Verkaik N, den Dekker A, Barendregt B, Pico Knijnenburg I, Tezcan I, et al. Defective Artemis nuclease is characterized by coding joints with microhomology in long palindromic-nucleotide stretches. Eur J Immunol. 2007;37:3522-8 pubmed..The V(D)J recombination assays used in this study contribute to the diagnostic strategy for T-B-NK+ SCID patients. ..
- Darroudi F, Wiegant W, Meijers M, Friedl A, van der Burg M, Fomina J, et al. Role of Artemis in DSB repair and guarding chromosomal stability following exposure to ionizing radiation at different stages of cell cycle. Mutat Res. 2007;615:111-24 pubmed..This observation implicates that in human fibroblasts following exposure to ionizing radiation a lower risk might be created when cells are devoid of endogenous damage. ..
- Moshous D, Pannetier C, Chasseval Rd R, Deist Fl F, Cavazzana Calvo M, Romana S, et al. Partial T and B lymphocyte immunodeficiency and predisposition to lymphoma in patients with hypomorphic mutations in Artemis. J Clin Invest. 2003;111:381-7 pubmed..This syndrome emphasizes the role of Artemis in the NHEJ pathway of DNA repair and suggests that other, yet ill-defined, conditions associating immunodeficiency and lymphoma could be caused by mutations in genes encoding NHEJ factors. ..
- Ma Y, Schwarz K, Lieber M. The Artemis:DNA-PKcs endonuclease cleaves DNA loops, flaps, and gaps. DNA Repair (Amst). 2005;4:845-51 pubmed..Additionally, the flexibility of the Artemis:DNA-PKcs nuclease may be important in removing secondary structures that hinder processing of DNA ends during NHEJ. ..
- Noordzij J, Verkaik N, van der Burg M, van Veelen L, de Bruin Versteeg S, Wiegant W, et al. Radiosensitive SCID patients with Artemis gene mutations show a complete B-cell differentiation arrest at the pre-B-cell receptor checkpoint in bone marrow. Blood. 2003;101:1446-52 pubmed..The completeness of this arrest illustrates the importance of Artemis at this stage of lymphoid differentiation. ..
- Drouet J, Frit P, Delteil C, de Villartay J, Salles B, Calsou P. Interplay between Ku, Artemis, and the DNA-dependent protein kinase catalytic subunit at DNA ends. J Biol Chem. 2006;281:27784-93 pubmed..This tight functional coupling between the activation of both DNA-PKcs and Artemis may avoid improper processing of DNA. ..
- Soubeyrand S, Pope L, de Chasseval R, Gosselin D, Dong F, de Villartay J, et al. Artemis phosphorylated by DNA-dependent protein kinase associates preferentially with discrete regions of chromatin. J Mol Biol. 2006;358:1200-11 pubmed..These foci were maintained upon DNA damage but failed to overlap with the damage-induced gammaH2AX. These results provide the expectation of a specific role for DNA-PK-phosphorylated Artemis in both naïve and damaged cells. ..
- Ma Y, Pannicke U, Schwarz K, Lieber M. Hairpin opening and overhang processing by an Artemis/DNA-dependent protein kinase complex in nonhomologous end joining and V(D)J recombination. Cell. 2002;108:781-94 pubmed
- Li L, Moshous D, Zhou Y, Wang J, Xie G, Salido E, et al. A founder mutation in Artemis, an SNM1-like protein, causes SCID in Athabascan-speaking Native Americans. J Immunol. 2002;168:6323-9 pubmedAthabascan SCID (SCIDA) is an autosomal recessive disorder found among Athabascan-speaking Native Americans and is manifested by the absence of both T and B cells (T(-)B(-)NK(+) SCID). We previously mapped the SCIDA gene to a 6...
- Callebaut I, Moshous D, Mornon J, de Villartay J. Metallo-beta-lactamase fold within nucleic acids processing enzymes: the beta-CASP family. Nucleic Acids Res. 2002;30:3592-601 pubmed
- Rao V, Neogi U, Talboom J, Padilla L, Rahman M, Fritz French C, et al. Clade C HIV-1 isolates circulating in Southern Africa exhibit a greater frequency of dicysteine motif-containing Tat variants than those in Southeast Asia and cause increased neurovirulence. Retrovirology. 2013;10:61 pubmed publisher..Asia and a HIV-1B isolate (HIV-1 ADA) from the US were tested using in vitro assays to measure neurovirulence and a SCID mouse HIV encephalitis model to measure cognitive deficits...
- Zhang H, Yang Y, Wang Y, Gao X, Wang W, Liu H, et al. Relationship of tumor marker CA125 and ovarian tumor stem cells: preliminary identification. J Ovarian Res. 2015;8:19 pubmed publisher..We developed a SCID mice model in which the CA125+/ lineage- and CA125-/ lineage- cells were injected into ovarian parenchyma by use ..
- Rechavi E, Lev A, Simon A, Stauber T, Daas S, Saraf Levy T, et al. First Year of Israeli Newborn Screening for Severe Combined Immunodeficiency-Clinical Achievements and Insights. Front Immunol. 2017;8:1448 pubmed publisher..found to be a risk factor in affected newborns, and a founder effect was detected for both IL7R? and DCLRE1C deficiency SCID...
- Ohyama A, Toyomura J, Tachibana T, Isonishi S, Takahashi H, Ishikawa H. Establishment and characterization of a clear cell carcinoma cell line, designated NOCC, derived from human ovary. Hum Cell. 2016;29:188-96 pubmed publisher..The graft of NOCC cells to a scid mouse displayed similar histological aspects to the original tumor...
- Yu H, Zhang V, Stray Pedersen A, Hanson I, Forbes L, de la Morena M, et al. Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing. J Allergy Clin Immunol. 2016;138:1142-1151.e2 pubmed publisher..and missense changes in IL2RG; compound heterozygous changes in ATM, RAG1, and CIITA; homozygous changes in DCLRE1C and IL7R; and a heterozygous nonsense mutation in CHD7...
- Tian Q, Zheng W, Sun R, Xue Y, Ji W, An R. [Establishment of a SCID beige mouse model bearing transplanted human choriocarcinoma using JAR cell line]. Nan Fang Yi Ke Da Xue Xue Bao. 2015;35:1406-10 pubmed
- Yadav A, Kumar B, Teknos T, Kumar P. Bazedoxifene enhances the anti-tumor effects of cisplatin and radiation treatment by blocking IL-6 signaling in head and neck cancer. Oncotarget. 2017;8:66912-66924 pubmed publisher..In a SCID mouse xenograft model, BZA significantly enhanced the anti-tumor effects of cisplatin and radiation treatment with ..
- Martín Ruiz A, Peña L, González Gil A, Díez Córdova L, Cáceres S, Illera J. Effects of indole-3-carbinol on steroid hormone profile and tumor progression in a mice model of canine inflammatory mammarycancer. BMC Cancer. 2018;18:626 pubmed publisher..The aim of this study was to analyze the effect of indole-3-carbinol on a SCID mice xenograft model of canine inflammatory mammary cancer, using equivalent human oral dose as a preventive ..
- Sridharan D, Whalen M, Almendrala D, Cucinotta F, Kawahara M, Yannone S, et al. Increased Artemis levels confer radioresistance to both high and low LET radiation exposures. Radiat Oncol. 2012;7:96 pubmed publisher..These findings indicate that Artemis levels significantly influence radiation toxicity in human cells and suggest that Artemis inhibition could be a practical target for adjuvant cancer therapies. ..
- Kohn D, Hershfield M, Puck J, Aiuti A, Blincoe A, Gaspar H, et al. Consensus approach for the management of severe combined immune deficiency caused by adenosine deaminase deficiency. J Allergy Clin Immunol. 2019;143:852-863 pubmed publisher..The outcomes of novel HSCT, ERT, and HSC-GT strategies should be evaluated prospectively in "real-life" conditions to further inform these management guidelines. ..
- Cağdaş D, Gur Cetinkaya P, Karaatmaca B, Esenboga S, Tan C, Yılmaz T, et al. ADA Deficiency: Evaluation of the Clinical and Laboratory Features and the Outcome. J Clin Immunol. 2018;38:484-493 pubmed publisher..was heterozygous in a patient with late-onset ADA deficiency, and the other was homozygous (IVS2delT+2) in a SCID patient. Other defects were missense defects. Nine out of 13 patients were put on pegylated ADA ERT...
- Chiti M, Dolmans M, Hobeika M, Cernogoraz A, Donnez J, Amorim C. A modified and tailored human follicle isolation procedure improves follicle recovery and survival. J Ovarian Res. 2017;10:71 pubmed publisher..were encapsulated in a fibrin matrix with high concentrations of fibrinogen and thrombin and xenografted to a SCID mouse, more follicles were found to be healthy after one week of transplantation than in a previous our study...
- Cowan M, Gennery A. Radiation-sensitive severe combined immunodeficiency: The arguments for and against conditioning before hematopoietic cell transplantation--what to do?. J Allergy Clin Immunol. 2015;136:1178-85 pubmed publisherDefects in DNA cross-link repair 1C (DCLRE1C), protein kinase DNA activated catalytic polypeptide (PRKDC), ligase 4 (LIG4), NHEJ1, and NBS1 involving the nonhomologous end-joining (NHEJ) DNA repair pathway result in radiation-sensitive ..
- Waide E, Dekkers J, Ross J, Rowland R, Wyatt C, Ewen C, et al. Not All SCID Pigs Are Created Equally: Two Independent Mutations in the Artemis Gene Cause SCID in Pigs. J Immunol. 2015;195:3171-9 pubmed publisher..The SCID pig can be an important biomedical model, but these mutations would be undesirable in commercial pig populations. The identified mutations and associated genetic tests can be used to address both of these issues. ..
- Rivera Munoz P, Abramowski V, Jacquot S, AndrÃ© P, Charrier S, Lipson Ruffert K, et al. Lymphopoiesis in transgenic mice over-expressing Artemis. Gene Ther. 2016;23:176-86 pubmed publisher..Mutations in DCLRE1C/ARTEMIS gene result in radiosensitive severe combined immunodeficiency in humans owing to a lack of mature T and ..
- Moscariello M, Wieloch R, Kurosawa A, Li F, Adachi N, Mladenov E, et al. Role for Artemis nuclease in the repair of radiation-induced DNA double strand breaks by alternative end joining. DNA Repair (Amst). 2015;31:29-40 pubmed publisher..We conclude that Artemis is a nuclease participating in DSB repair by all major repair pathways. ..
- Kalman L, Lindegren M, Kobrynski L, Vogt R, Hannon H, Howard J, et al. Mutations in genes required for T-cell development: IL7R, CD45, IL2RG, JAK3, RAG1, RAG2, ARTEMIS, and ADA and severe combined immunodeficiency: HuGE review. Genet Med. 2004;6:16-26 pubmed..Validated tests and pilot population studies are necessary to determine newborn screening's potential for identifying infants with SCID. ..
- Ivezaj V, Barnes R, Grilo C. Validity and Clinical Utility of Subtyping by the Beck Depression Inventory in Women Seeking Gastric Bypass Surgery. Obes Surg. 2016;26:2068-2073 pubmed publisher..When identifying clinical severity, however, subtyping women by BDI scores of >15 may identify a significantly more disturbed subgroup than relying on a SCID-I/P-generated mood disorder diagnosis.
- Yan Y, Akhter S, Zhang X, Legerski R. The multifunctional SNM1 gene family: not just nucleases. Future Oncol. 2010;6:1015-29 pubmed publisher..In this article we discuss the various functions of SNM1A, SNM1B/Apollo and Artemis. ..
- Diaz T, Rodriguez V, Lozano E, Mena M, Calderón M, Rosinol L, et al. The BET bromodomain inhibitor CPI203 improves lenalidomide and dexamethasone activity in in vitro and in vivo models of multiple myeloma by blockade of Ikaros and MYC signaling. Haematologica. 2017;102:1776-1784 pubmed publisher..04). Finally, in a SCID mouse xenotransplant model of myeloma, addition of CPI203 to lenalidomide/dexamethasone decreased tumor burden, ..
- Yang Y, Wang S, Miao Z, Ma W, Zhang Y, Su L, et al. miR-17 promotes expansion and adhesion of human cord blood CD34(+) cells in vitro. Stem Cell Res Ther. 2015;6:168 pubmed publisher..NOD prkdc (scid) Il2rg (null) mice were used in a SCID repopulating cell assay to investigate the function of miR-17 on CB CD34(+) cells in vivo...
- Islam S, Vick E, Huber B, Morales C, Spier C, Cooke L, et al. Co-targeting aurora kinase with PD-L1 and PI3K abrogates immune checkpoint mediated proliferation in peripheral T-cell lymphoma: a novel therapeutic strategy. Oncotarget. 2017;8:100326-100338 pubmed publisher..In a SCID PTCL xenograft mouse model, alisertib displayed high synergism with MLN1117...
- Wood R, Mitchell M, Sgouros J, Lindahl T. Human DNA repair genes. Science. 2001;291:1284-9 pubmed..Modulation of DNA repair should lead to clinical applications including improvement of radiotherapy and treatment with anticancer drugs and an advanced understanding of the cellular aging process. ..
- Du L, van der Burg M, Popov S, Kotnis A, van Dongen J, Gennery A, et al. Involvement of Artemis in nonhomologous end-joining during immunoglobulin class switch recombination. J Exp Med. 2008;205:3031-40 pubmed publisher..Thus, when the function of Artemis is impaired, varying modes of CSR junction resolution may be used for different S regions. Our findings strongly link Artemis to the predominant NHEJ pathway during CSR. ..
- Nakagawa K, Uehata Y, Natsuizaka M, Kohara T, Darmanin S, Asaka M, et al. The nuclear protein Artemis promotes AMPK activation by stabilizing the LKB1-AMPK complex. Biochem Biophys Res Commun. 2012;427:790-5 pubmed publisher..we performed yeast two-hybrid screening and isolated the complementary DNA (cDNA) encoding the nuclear protein Artemis/DNA cross-link repair 1C (DCLRE1C) as an AMPK?2-binding protein...
- Humblet Baron S, Schonefeldt S, Garcia Perez J, Baron F, Pasciuto E, Liston A. Cytotoxic T-lymphocyte-associated protein 4-Ig effectively controls immune activation and inflammatory disease in a novel murine model of leaky severe combined immunodeficiency. J Allergy Clin Immunol. 2017;140:1394-1403.e8 pubmed publisher..DNA recombination machinery, such as recombination-activating gene 1 (RAG1), RAG2, or DNA cross-link repair 1C (DCLRE1C)...
- Volk T, Pannicke U, Reisli I, Bulashevska A, Ritter J, BjÃ¶rkman A, et al. DCLRE1C (ARTEMIS) mutations causing phenotypes ranging from atypical severe combined immunodeficiency to mere antibody deficiency. Hum Mol Genet. 2015;24:7361-72 pubmed publisher..Hypomorphic mutations in the non-homologous end-joining gene DCLRE1C (encoding ARTEMIS) have been described to cause atypical SCID, Omenn syndrome, Hyper IgM syndrome and ..
- de Villartay J, Shimazaki N, Charbonnier J, Fischer A, Mornon J, Lieber M, et al. A histidine in the beta-CASP domain of Artemis is critical for its full in vitro and in vivo functions. DNA Repair (Amst). 2009;8:202-8 pubmed publisher..Moreover, inherited mutation of H254 results in radiosensitive severe combined immune deficiency (RS-SCID) in humans. This residue might play a key role in specificity towards DNA, if not directly in zinc binding. ..
- Niewolik D, Peter I, Butscher C, Schwarz K. Autoinhibition of the Nuclease ARTEMIS Is Mediated by a Physical Interaction between Its Catalytic and C-terminal Domains. J Biol Chem. 2017;292:3351-3365 pubmed publisher..Our experiments provide strong evidence that a physical interaction between the C-terminal and catalytic domains mediates ARTEMIS autoinhibition. ..
- Lee P, Woodbine L, Gilmour K, Bibi S, Cale C, Amrolia P, et al. The many faces of Artemis-deficient combined immunodeficiency - Two patients with DCLRE1C mutations and a systematic literature review of genotype-phenotype correlation. Clin Immunol. 2013;149:464-74 pubmed publisher..The progressive nature of immunodeficiency and genomic instability accounts for poor survival, and early HSCT should be considered. ..
- Sakurai Y, Komatsu K, Agematsu K, Matsuoka M. DNA double strand break repair enzymes function at multiple steps in retroviral infection. Retrovirology. 2009;6:114 pubmed publisher..These results suggest that DSB repair enzymes are involved in multiple steps including integration and pre-integration steps during retroviral replication. ..
- Li L, Drayna D, Hu D, Hayward A, Gahagan S, Pabst H, et al. The gene for severe combined immunodeficiency disease in Athabascan-speaking Native Americans is located on chromosome 10p. Am J Hum Genet. 1998;62:136-44 pubmed..10 at D10S191. Strong linkage disequilibrium was found in five linked markers spanning approximately 6.5 cM in the candidate region, suggesting a founder effect with an ancestral mutation that occurred sometime before 1300 A.D. ..
- Craxton A, Somers J, Munnur D, Jukes Jones R, Cain K, Malewicz M. XLS (c9orf142) is a new component of mammalian DNA double-stranded break repair. Cell Death Differ. 2015;22:890-7 pubmed publisher..Furthermore, c9orf142/XLS interacted with other core NHEJ factors. These results demonstrate the existence of a new component of the NHEJ DNA repair pathway in mammalian cells. ..
- Mohapatra S, Kawahara M, Khan I, Yannone S, Povirk L. Restoration of G1 chemo/radioresistance and double-strand-break repair proficiency by wild-type but not endonuclease-deficient Artemis. Nucleic Acids Res. 2011;39:6500-10 pubmed publisher..Restoration of chemo/radioresistance by wild-type, but not D165N Artemis suggests that the lack of endonucleolytic trimming of DNA ends is the principal cause of sensitivity to double-strand cleaving agents in Artemis-deficient cells. ..
- Gerodimos C, Chang H, Watanabe G, Lieber M. Effects of DNA end configuration on XRCC4-DNA ligase IV and its stimulation of Artemis activity. J Biol Chem. 2017;292:13914-13924 pubmed publisher..These data suggest specific functional and positional relationships among these components that explain genetic and molecular features of NHEJ and V(D)J recombination within cells. ..
- Zhang X, Zhu Y, Geng L, Wang H, Legerski R. Artemis is a negative regulator of p53 in response to oxidative stress. Oncogene. 2009;28:2196-204 pubmed publisher..These findings indicate that Artemis and DNA-PKcs participate in a new, signaling pathway to modulate p53 function in response to oxidative stress produced by mitochondrial respiration. ..
- Al Herz W, Massaad M, Chou J, Notarangelo L, Geha R. DNA recombination defects in Kuwait: Clinical, immunologic and genetic profile. Clin Immunol. 2018;187:68-75 pubmed publisherDefects in DNA Recombination due to mutations in RAG1/2 or DCLRE1C result in combined immunodeficiency (CID) with a range of disease severity...
- Jain V, Saini D, Kumar P, Jaikrishan G, Das B. Efficient repair of DNA double strand breaks in individuals from high level natural radiation areas of Kerala coast, south-west India. Mutat Res. 2017;806:39-50 pubmed publisher..Transcription profile of DCLRE1C, XRCC4, NBS1 and CDK2 showed significant up-regulation (pâ‰¤0.05) in HDG at a challenge dose of 2...
- Liu H, Sun X, Zhang S, Ge W, Zhu Y, Zhang J, et al. The dominant negative mutant Artemis enhances tumor cell radiosensitivity. Radiother Oncol. 2011;101:66-72 pubmed publisher..It is the first time to modulate tumor cell radiosensitivity via targeting Artemis. This novel mechanism of radiosensitivity strongly suggests the potential role of Artemis in cancer therapy. ..
- Eberhardt M, Salmon P, von Mach M, Hengstler J, Brulport M, Linscheid P, et al. Multipotential nestin and Isl-1 positive mesenchymal stem cells isolated from human pancreatic islets. Biochem Biophys Res Commun. 2006;345:1167-76 pubmed..In addition, they can be differentiated into human albumin producing cells in vivo when grafted into a SCID mouse liver...
- Li S, Chang H, Niewolik D, Hedrick M, Pinkerton A, Hassig C, et al. Evidence that the DNA endonuclease ARTEMIS also has intrinsic 5'-exonuclease activity. J Biol Chem. 2014;289:7825-34 pubmed publisher..We conclude that the 5'-exonuclease is intrinsic to ARTEMIS, making it relevant to the role of ARTEMIS in nonhomologous DNA end joining. ..
- Robinette M, Cella M, Telliez J, Ulland T, Barrow A, Capuder K, et al. Jak3 deficiency blocks innate lymphoid cell development. Mucosal Immunol. 2018;11:50-60 pubmed publisher..mouse line purchased from Jackson Laboratories harbors a spontaneous mutation in Jak3, generating a SCID phenotype and an inability to generate antigen-independent professional cytokine-producing innate lymphoid cells (..
- Li X, Cornelis M, Liang L, Song F, De Vivo I, Giovannucci E, et al. A genome-wide analysis of gene-caffeine consumption interaction on basal cell carcinoma. Carcinogenesis. 2016;37:1138-1143 pubmed..001) including those mapping to the genes LRRTM4, ATF3 and DCLRE1C in women and POTEA in men...
- Demogines A, East A, Lee J, Grossman S, Sabeti P, Paull T, et al. Ancient and recent adaptive evolution of primate non-homologous end joining genes. PLoS Genet. 2010;6:e1001169 pubmed publisher..We propose that an ongoing evolutionary arms race between viruses and NHEJ genes may be driving the surprisingly rapid evolution of these critical genes...
- Kurosawa A, Saito S, So S, Hashimoto M, Iwabuchi K, Watabe H, et al. DNA ligase IV and artemis act cooperatively to suppress homologous recombination in human cells: implications for DNA double-strand break repair. PLoS ONE. 2013;8:e72253 pubmed publisher..Our results point to the possibility that HR can only operate on accidental DSBs when NHEJ is missing or abortive, and Artemis may be involved in pathway switching from incomplete NHEJ to HR. ..
- van der Burg M, Ijspeert H, Verkaik N, Turul T, Wiegant W, Morotomi Yano K, et al. A DNA-PKcs mutation in a radiosensitive T-B- SCID patient inhibits Artemis activation and nonhomologous end-joining. J Clin Invest. 2009;119:91-8 pubmed publisher..Further, the data suggest that residual DNA-PKcs activity is indispensable in humans. ..
- Katsube T, Mori M, Tsuji H, Shiomi T, Shiomi N, Onoda M. Differences in sensitivity to DNA-damaging Agents between XRCC4- and Artemis-deficient human cells. J Radiat Res. 2011;52:415-24 pubmed publisher..These observations suggest that Artemis also functions in some DNA damage response pathways other than NHEJ in human cells. ..
- Malu S, De Ioannes P, Kozlov M, Greene M, Francis D, Hanna M, et al. Artemis C-terminal region facilitates V(D)J recombination through its interactions with DNA Ligase IV and DNA-PKcs. J Exp Med. 2012;209:955-63 pubmed publisher..Signal joint formation remains unaffected. Our data reveal that the C-terminal region of Artemis influences V(D)J recombination through its interaction with both Ligase IV and DNA-PKcs. ..
- Tomashov Matar R, Biran G, Lagovsky I, Kotler N, Stein A, Fisch B, et al. Severe combined immunodeficiency (SCID): from the detection of a new mutation to preimplantation genetic diagnosis. J Assist Reprod Genet. 2012;29:687-92 pubmed publisher..We then sequenced DCLRE1C in order to find the familial mutation...
- Woodbine L, Brunton H, Goodarzi A, Shibata A, Jeggo P. Endogenously induced DNA double strand breaks arise in heterochromatic DNA regions and require ataxia telangiectasia mutated and Artemis for their repair. Nucleic Acids Res. 2011;39:6986-97 pubmed publisher..These findings are important for evaluating the impact of endogenously arising DNA DSBs in ATM and Artemis-deficient patients. ..
- Lu H, Schwarz K, Lieber M. Extent to which hairpin opening by the Artemis:DNA-PKcs complex can contribute to junctional diversity in V(D)J recombination. Nucleic Acids Res. 2007;35:6917-23 pubmed..This information provides greater clarity on the extent to which the hairpin opening position contributes to junctional diversification in V(D)J recombination. ..
- Kobayashi N, Agematsu K, Nagumo H, Yasui K, Katsuyama Y, Yoshizawa K, et al. Expansion of clonotype-restricted HLA-identical maternal CD4+ T cells in a patient with severe combined immunodeficiency and a homozygous mutation in the Artemis gene. Clin Immunol. 2003;108:159-66 pubmed..These results indicate that highly restricted maternal T-cell clonotypes can markedly expand, possibly in response to tissue-specific antigens, in a MHC-identical recipient. ..