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    TONSL tonsoku like, DNA repair protein [ Homo sapiens (human) ]

    Gene ID: 4796, updated on 4-Jan-2025

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Oncogenic Impact of TONSL, a Homologous Recombination Repair Protein at the Replication Fork, in Cancer Stem Cells.

    Oncogenic Impact of TONSL, a Homologous Recombination Repair Protein at the Replication Fork, in Cancer Stem Cells.
    Lee H, Ha S, Choi S, Do S, Yoon S, Kim YK, Kim WY., Free PMC Article

    06/13/2023
    TONSL Is an Immortalizing Oncogene and a Therapeutic Target in Breast Cancer.

    TONSL Is an Immortalizing Oncogene and a Therapeutic Target in Breast Cancer.
    Khatpe AS, Dirks R, Bhat-Nakshatri P, Mang H, Batic K, Swiezy S, Olson J, Rao X, Wang Y, Tanaka H, Liu S, Wan J, Chen D, Liu Y, Fang F, Althouse S, Hulsey E, Granatir MM, Addison R, Temm CJ, Sandusky G, Lee-Gosselin A, Nephew K, Miller KD, Nakshatri H., Free PMC Article

    04/17/2023
    MMS22L-TONSL functions in sister chromatid cohesion in a pathway parallel to DSCC1-RFC.

    MMS22L-TONSL functions in sister chromatid cohesion in a pathway parallel to DSCC1-RFC.
    van Schie JJ, de Lint K, Pai GM, Rooimans MA, Wolthuis RM, de Lange J., Free PMC Article

    01/14/2023
    Novel TONSL variants cause SPONASTRIME dysplasia and associate with spontaneous chromosome breaks, defective cell proliferation and apoptosis.

    Novel TONSL variants cause SPONASTRIME dysplasia and associate with spontaneous chromosome breaks, defective cell proliferation and apoptosis.
    Micale L, Cialfi S, Fusco C, Cinque L, Castellana S, Biagini T, Talora C, Notarangelo A, Bisceglia L, Taruscio D, Salvatore M, Castori M.

    08/28/2021
    The TONSL promoter is activated by TONSL-AS1. TONSL-AS1 was positively associated with TONSL in cancer tissues. The tumor-inhibiting effect of TONSL-AS1 in gastric cancer cells was associated with TONSL.

    A novel long non-coding RNA TONSL-AS1 regulates progression of gastric cancer via activating TONSL.
    Wang P, Yang X, Zhao L, Liu D, Liu J, Ding Y.

    06/27/2020
    Mutations in TONSL Cause SPONASTRIME Dysplasia Phenotype.

    Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia.
    Chang HR, Cho SY, Lee JH, Lee E, Seo J, Lee HR, Cavalcanti DP, Mäkitie O, Valta H, Girisha KM, Lee C, Neethukrishna K, Bhavani GS, Shukla A, Nampoothiri S, Phadke SR, Park MJ, Ikegawa S, Wang Z, Higgs MR, Stewart GS, Jung E, Lee MS, Park JH, Lee EA, Kim H, Myung K, Jeon W, Lee K, Kim D, Kim OH, Choi M, Lee HW, Kim Y, Cho TJ., Free PMC Article

    12/21/2019
    Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.

    Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.
    Burrage LC, Reynolds JJ, Baratang NV, Phillips JB, Wegner J, McFarquhar A, Higgs MR, Christiansen AE, Lanza DG, Seavitt JR, Jain M, Li X, Parry DA, Raman V, Chitayat D, Chinn IK, Bertuch AA, Karaviti L, Schlesinger AE, Earl D, Bamshad M, Savarirayan R, Doddapaneni H, Muzny D, Jhangiani SN, Eng CM, Gibbs RA, Bi W, Emrick L, Rosenfeld JA, Postlethwait J, Westerfield M, Dickinson ME, Beaudet AL, Ranza E, Huber C, Cormier-Daire V, Shen W, Mao R, Heaney JD, Orange JS, University of Washington Center for Mendelian Genomics, Undiagnosed Diseases Network, Bertola D, Yamamoto GL, Baratela WAR, Butler MG, Ali A, Adeli M, Cohn DH, Krakow D, Jackson AP, Lees M, Offiah AC, Carlston CM, Carey JC, Stewart GS, Bacino CA, Campeau PM, Lee B., Free PMC Article

    12/21/2019
    TONSL holds promise for serving as a prognostic biomarker for hepatocellular carcinoma

    Overexpression of TONSL might be an independent unfavorable prognostic indicator in hepatocellular carcinoma.
    Yu B, Ding Y, Liao X, Wang C, Wang B, Chen X.

    08/31/2019
    uncovered DNA-PKcs-dependent DNA damage-induced ASF1A phosphorylation, which enhances chromatin assembly, promoting MMS22L-TONSL recruitment and, hence, Rad51 loading.

    The Histone Chaperones ASF1 and CAF-1 Promote MMS22L-TONSL-Mediated Rad51 Loading onto ssDNA during Homologous Recombination in Human Cells.
    Huang TH, Fowler F, Chen CC, Shen ZJ, Sleckman B, Tyler JK., Free PMC Article

    01/5/2019
    By specifically regulating RAD51 activity at uncoupled replication forks, MMS22L-TONSL stabilizes perturbed replication forks by promoting replication fork reversal and stimulating their homologous recombination-mediated restart in vivo.

    The MMS22L-TONSL heterodimer directly promotes RAD51-dependent recombination upon replication stress.
    Piwko W, Mlejnkova LJ, Mutreja K, Ranjha L, Stafa D, Smirnov A, Brodersen MM, Zellweger R, Sturzenegger A, Janscak P, Lopes M, Peter M, Cejka P., Free PMC Article

    07/8/2017
    new histones incorporated during DNA replication provide a signature of post-replicative chromatin, read by the human TONSL-MMS22L homologous recombination complex

    H4K20me0 marks post-replicative chromatin and recruits the TONSL–MMS22L DNA repair complex.
    Saredi G, Huang H, Hammond CM, Alabert C, Bekker-Jensen S, Forne I, Reverón-Gómez N, Foster BM, Mlejnkova L, Bartke T, Cejka P, Mailand N, Imhof A, Patel DJ, Groth A., Free PMC Article

    07/30/2016
    Common NFKBIL2 polymorphisms are associated with susceptibility to invasive pneumococcal infection.

    Common NFKBIL2 polymorphisms and susceptibility to pneumococcal disease: a genetic association study.
    Chapman SJ, Khor CC, Vannberg FO, Rautanen A, Walley A, Segal S, Moore CE, Davies RJ, Day NP, Peshu N, Crook DW, Berkley JA, Williams TN, Scott JA, Hill AV., Free PMC Article

    01/28/2012
    Results strongly suggest that the Mms22L-Nfkbil2 complex contributes to genome stability by regulating the chromatin state at stalled replication forks.

    RNAi-based screening identifies the Mms22L-Nfkbil2 complex as a novel regulator of DNA replication in human cells.
    Piwko W, Olma MH, Held M, Bianco JN, Pedrioli PG, Hofmann K, Pasero P, Gerlich DW, Peter M., Free PMC Article

    01/15/2011
    This study identifies MMS22L-NFKBIL2 as components of the replication stress control pathway.

    A genome-wide camptothecin sensitivity screen identifies a mammalian MMS22L-NFKBIL2 complex required for genomic stability.
    O'Connell BC, Adamson B, Lydeard JR, Sowa ME, Ciccia A, Bredemeyer AL, Schlabach M, Gygi SP, Elledge SJ, Harper JW., Free PMC Article

    01/1/2011
    MMS22L and TONSL are required for the maintenance of genome stability.

    Identification of the MMS22L-TONSL complex that promotes homologous recombination.
    Duro E, Lundin C, Ask K, Sanchez-Pulido L, MacArtney TJ, Toth R, Ponting CP, Groth A, Helleday T, Rouse J.

    01/1/2011
    These results indicate that MMS22L and TONSL are genome caretakers that stimulate the recombination-dependent repair of stalled or collapsed replication forks.

    The MMS22L-TONSL complex mediates recovery from replication stress and homologous recombination.
    O'Donnell L, Panier S, Wildenhain J, Tkach JM, Al-Hakim A, Landry MC, Escribano-Diaz C, Szilard RK, Young JT, Munro M, Canny MD, Kolas NK, Zhang W, Harding SM, Ylanko J, Mendez M, Mullin M, Sun T, Habermann B, Datti A, Bristow RG, Gingras AC, Tyers MD, Brown GW, Durocher D., Free PMC Article

    01/1/2011
    Observational study of gene-disease association. (HuGE Navigator)

    Common polymorphisms in ITGA2, PON1 and THBS2 are associated with coronary atherosclerosis in a candidate gene association study of the Chinese Han population.
    Wang Y, Fu W, Xie F, Wang Y, Chu X, Wang H, Shen M, Wang Y, Wang Y, Sun W, Lei R, Yang L, Wu H, Foo J, Liu J, Jin L, Huang W.

    09/15/2010
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