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    DCLRE1C DNA cross-link repair 1C [ Homo sapiens (human) ]

    Gene ID: 64421, updated on 6-Jun-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Point mutations in Artemis that disrupt its interaction with Ligase IV or DNA-PKcs reduce V(D)J recombination.

    Artemis C-terminal region facilitates V(D)J recombination through its interactions with DNA Ligase IV and DNA-PKcs.
    Malu S, De Ioannes P, Kozlov M, Greene M, Francis D, Hanna M, Pena J, Escalante CR, Kurosawa A, Erdjument-Bromage H, Tempst P, Adachi N, Vezzoni P, Villa A, Aggarwal AK, Cortes P., Free PMC Article

    07/21/2012
    The dominant negative mutant Artemis fragment (D37N-413aa) enhanced tumor cell radiosensitivity through blocking activity of endogenous Artemis and DNA repair.

    The dominant negative mutant Artemis enhances tumor cell radiosensitivity.
    Liu H, Sun X, Zhang S, Ge W, Zhu Y, Zhang J, Zheng S.

    05/19/2012
    antisense oligonucleotide (AON) covering the intronic mutation restored WT Artemis transcript levels and non-homologous end-joining pathway activity in the patient fibroblasts

    Artemis splice defects cause atypical SCID and can be restored in vitro by an antisense oligonucleotide.
    Ijspeert H, Lankester AC, van den Berg JM, Wiegant W, van Zelm MC, Weemaes CM, Warris A, Pan-Hammarström Q, Pastink A, van Tol MJ, van Dongen JJ, van Gent DC, van der Burg M.

    01/28/2012
    analysis of differences in sensitivity to DNA-damaging Agents between XRCC4- and Artemis-deficient human cells

    Differences in sensitivity to DNA-damaging Agents between XRCC4- and Artemis-deficient human cells.
    Katsube T, Mori M, Tsuji H, Shiomi T, Shiomi N, Onoda M.

    01/14/2012
    Artemis is required for the repair of DNA double strand breaks that arise endogenously or following oxidative stress.

    Endogenously induced DNA double strand breaks arise in heterochromatic DNA regions and require ataxia telangiectasia mutated and Artemis for their repair.
    Woodbine L, Brunton H, Goodarzi AA, Shibata A, Jeggo PA., Free PMC Article

    11/26/2011
    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.

    Restoration of G1 chemo/radioresistance and double-strand-break repair proficiency by wild-type but not endonuclease-deficient Artemis.
    Mohapatra S, Kawahara M, Khan IS, Yannone SM, Povirk LF., Free PMC Article

    11/5/2011
    Studies indicate that codon-based models of gene evolution yielded statistical support for the recurrent positive selection of five NHEJ genes during primate evolution: XRCC4, NBS1, Artemis, POLlambda, and CtIP.

    Ancient and recent adaptive evolution of primate non-homologous end joining genes.
    Demogines A, East AM, Lee JH, Grossman SR, Sabeti PC, Paull TT, Sawyer SL., Free PMC Article

    03/12/2011
    Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)See all PubMed (2) articles

    Gamma-radiation sensitivity and polymorphisms in RAD51L1 modulate glioma risk.
    Liu Y, Shete S, Wang LE, El-Zein R, Etzel CJ, Liang FW, Armstrong G, Tsavachidis S, Gilbert MR, Aldape KD, Xing J, Wu X, Wei Q, Bondy ML.

    Comprehensive screen of genetic variation in DNA repair pathway genes and postmenopausal breast cancer risk.
    Monsees GM, Kraft P, Chanock SJ, Hunter DJ, Han J.

    06/30/2010
    Functional analyses on patients' fibroblasts demonstrated that the corresponding alleles carry null mutations of the DCLRE1C gene.

    The most frequent DCLRE1C (ARTEMIS) mutations are based on homologous recombination events.
    Pannicke U, Hönig M, Schulze I, Rohr J, Heinz GA, Braun S, Janz I, Rump EM, Seidel MG, Matthes-Martin S, Soerensen J, Greil J, Stachel DK, Belohradsky BH, Albert MH, Schulz A, Ehl S, Friedrich W, Schwarz K.

    05/3/2010
    Plays role in the 3'-processing reaction and protection of the ends of viral DNA (HIV-1) after reverse transcription. Involved in multiple steps including integration and pre-integration steps during retroviral replication.

    DNA double strand break repair enzymes function at multiple steps in retroviral infection.
    Sakurai Y, Komatsu K, Agematsu K, Matsuoka M., Free PMC Article

    03/8/2010
    ATM and DNA cross-link repair 1C (PSO2 homolog S. cerevisiae) are required for efficient formation of single-stranded DNA and Rad51 foci at radiation-induced double-strand breaks in G2 phase.

    ATM and Artemis promote homologous recombination of radiation-induced DNA double-strand breaks in G2.
    Beucher A, Birraux J, Tchouandong L, Barton O, Shibata A, Conrad S, Goodarzi AA, Krempler A, Jeggo PA, Löbrich M., Free PMC Article

    01/21/2010
    Observational study of genetic testing. (HuGE Navigator)

    Customised molecular diagnosis of primary immune deficiency disorders in New Zealand: an efficient strategy for a small developed country.
    Ameratunga R, Woon ST.

    12/2/2009
    Mutations in Artemis leads to reduced immunoglobulin class switch recombination.

    Reduced immunoglobulin class switch recombination in the absence of Artemis.
    Rivera-Munoz P, Soulas-Sprauel P, Le Guyader G, Abramowski V, Bruneau S, Fischer A, Pâques F, de Villartay JP.

    01/21/2010
    recovery from the S phase checkpoint in that in response to replication stress phosphorylation of Artemis by ATR enhances its interaction with Fbw7, which in turn promotes ubiquitylation and the ultimate degradation of cyclin E

    Artemis regulates cell cycle recovery from the S phase checkpoint by promoting degradation of cyclin E.
    Wang H, Zhang X, Geng L, Teng L, Legerski RJ., Free PMC Article

    01/21/2010
    Artemis and DNA-PKcs participate in a new, signaling pathway to modulate p53 function in response to oxidative stress produced by mitochondrial respiration.

    Artemis is a negative regulator of p53 in response to oxidative stress.
    Zhang X, Zhu Y, Geng L, Wang H, Legerski RJ., Free PMC Article

    01/21/2010
    H254 plays a key role in the Artemis function, as it is critical for its full activity in vitro.

    A histidine in the beta-CASP domain of Artemis is critical for its full in vitro and in vivo functions.
    de Villartay JP, Shimazaki N, Charbonnier JB, Fischer A, Mornon JP, Lieber MR, Callebaut I.

    01/21/2010
    Observational study of gene-disease association. (HuGE Navigator)See all PubMed (2) articles

    Variation within DNA repair pathway genes and risk of multiple sclerosis.
    Briggs FB, Goldstein BA, McCauley JL, Zuvich RL, De Jager PL, Rioux JD, Ivinson AJ, Compston A, Hafler DA, Hauser SL, Oksenberg JR, Sawcer SJ, Pericak-Vance MA, Haines JL, Barcellos LF, International Multiple Sclerosis Genetics Consortium.

    Genetic variants in apoptosis and immunoregulation-related genes are associated with risk of chronic lymphocytic leukemia.
    Enjuanes A, Benavente Y, Bosch F, Martín-Guerrero I, Colomer D, Pérez-Alvarez S, Reina O, Ardanaz MT, Jares P, García-Orad A, Pujana MA, Montserrat E, de Sanjosé S, Campo E.

    03/25/2009
    Results identify the first human RS-SCID patient with a DNA-PKcs missense mutation, which also affects Artemis activation and function.

    A DNA-PKcs mutation in a radiosensitive T-B- SCID patient inhibits Artemis activation and nonhomologous end-joining.
    van der Burg M, Ijspeert H, Verkaik NS, Turul T, Wiegant WW, Morotomi-Yano K, Mari PO, Tezcan I, Chen DJ, Zdzienicka MZ, van Dongen JJ, van Gent DC., Free PMC Article

    01/21/2010
    Results link Artemis to the predominant nonhomologous end-joining pathway during immunoglobulin class switch recombination.

    Involvement of Artemis in nonhomologous end-joining during immunoglobulin class switch recombination.
    Du L, van der Burg M, Popov SW, Kotnis A, van Dongen JJ, Gennery AR, Pan-Hammarström Q., Free PMC Article

    01/21/2010
    Observational study and meta-analysis of gene-disease association. (HuGE Navigator)

    Comprehensive analysis of DNA repair gene variants and risk of meningioma.
    Bethke L, Murray A, Webb E, Schoemaker M, Muir K, McKinney P, Hepworth S, Dimitropoulou P, Lophatananon A, Feychting M, Lönn S, Ahlbom A, Malmer B, Henriksson R, Auvinen A, Kiuru A, Salminen T, Johansen C, Christensen HC, Kosteljanetz M, Swerdlow A, Houlston R.

    04/3/2008
    Meta-analysis and HuGE review of genotype prevalence, gene-disease association, genetic testing, and healthcare-related. (HuGE Navigator)

    Mutations in genes required for T-cell development: IL7R, CD45, IL2RG, JAK3, RAG1, RAG2, ARTEMIS, and ADA and severe combined immunodeficiency: HuGE review.
    Kalman L, Lindegren ML, Kobrynski L, Vogt R, Hannon H, Howard JT, Buckley R.

    03/13/2008
    The Artemis C terminus is essential for V(D)J recombination at the normal Artemis expression level.

    Defective Artemis nuclease is characterized by coding joints with microhomology in long palindromic-nucleotide stretches.
    van der Burg M, Verkaik NS, den Dekker AT, Barendregt BH, Pico-Knijnenburg I, Tezcan I, vanDongen JJ, van Gent DC.

    01/21/2010
    There is some sequence-dependent variation in the efficiency and position of hairpin opening by Artemis:DNA-PKcs; providing more clarity on the extent to which the hairpin opening position contributes to junctional diversity in V(D)J recombination.

    Extent to which hairpin opening by the Artemis:DNA-PKcs complex can contribute to junctional diversity in V(D)J recombination.
    Lu H, Schwarz K, Lieber MR., Free PMC Article

    01/21/2010
    Artemis has a role in T and B lymphocyte immunodeficiency and in predisposition to lymphoma through the NHEJ pathway of DNA repair

    Partial T and B lymphocyte immunodeficiency and predisposition to lymphoma in patients with hypomorphic mutations in Artemis.
    Moshous D, Pannetier C, Chasseval Rd Rd, Deist Fl Fl, Cavazzana-Calvo M, Romana S, Macintyre E, Canioni D, Brousse N, Fischer A, Casanova JL, Villartay JP., Free PMC Article

    01/21/2010
    ATM regulates G(2)/M checkpoint recovery through inhibitory phosphorylations of Artemis that occur soon after DNA damage, thus setting a molecular switch that, hours later upon completion of DNA repair, allows activation of the Cdk1-cyclin B complex.

    Artemis links ATM to G2/M checkpoint recovery via regulation of Cdk1-cyclin B.
    Geng L, Zhang X, Zheng S, Legerski RJ., Free PMC Article

    01/21/2010