Publications

SHLD2/FAM35A co-operates with REV7 to coordinate DNA double-strand break repair pathway choice. Findlay S, Heath J, Luo VM, Malina A, Morin T, Coulombe Y, Djerir B, Li Z, Samiei A, Simo-Cheyou E, Karam M, Bagci H, Rahat D, Grapton D, Lavoie EG, Dove C, Khaled H, Kuasne H, Mann KK, Klein KO, Greenwood CM, Tabach Y, Park M, Côté JF, Masson JY, Maréchal A, Orthwein AEMBO J. 2018 Sep 14;37(18). pii: e100158. doi: 10.15252/embj.2018100158. Epub 2018 Aug 28. PMID: 30154076

Mapping global and local coevolution across 600 species to identify novel homologous recombination repair genes. Sherill-Rofe D, Rahat D, Findlay S, Mellul A, Guberman I, Braun M, Bloch I, Lalezari A, Samiei A, Sadreyev R, Goldberg M, Orthwein A, Zick A, Tabach Y. Genome Res. 2019 Mar;29(3):439-448. doi: 10.1101/gr.241414.118. Epub 2019 Feb 4. PMID:30718334

Genetic interaction between two insulin-dependent diabetes susceptibility loci, Idd2 and Idd13, in determining immunoregulatory DN T cell proportion. Collin R, Doyon K, Mullins-Dansereau V, Karam M, Chabot-Roy G, Hillhouse EE, Orthwein A, Lesage S. Immunogenetics. 2018 Aug;70(8):495-509. doi: 10.1007/s00251-018-1060-8. Epub 2018 Apr 25. PMID:29696366

CRISPR/Cas9 Gene Editing: From Basic Mechanisms to Improved Strategies for Enhanced Genome Engineering In Vivo. Salsman J, Masson JY, Orthwein A, Dellaire G. Curr Gene Ther. 2017;17(4):263-274. doi: 10.2174/1566523217666171122094629. PMID: 29173169

Inhibition of 53BP1 favors homology-dependent DNA repair and increases CRISPR-Cas9 genome-editing efficiency. Canny MD, Moatti N, Wan LCK, Fradet-Turcotte A, Krasner D, Mateos-Gomez PA, Zimmermann M, Orthwein A, Juang YC, Zhang W, Noordermeer SM, Seclen E, Wilson MD, Vorobyov A, Munro M, Ernst A, Ng TF, Cho T, Cannon PM, Sidhu SS, Sicheri F, Durocher D. Nat Biotechnol. 2018 Jan;36(1):95-102. doi: 10.1038/nbt.4021. Epub 2017 Nov 27. PMID: 29176614 – Free PMC Article

A mutational signature reveals alterations underlying deficient homologous recombination repair in breast cancer. Polak P, Kim J, Braunstein LZ, Karlic R, Haradhavala NJ, Tiao G, Rosebrock D, Livitz D, Kübler K, Mouw KW, Kamburov A, Maruvka YE, Leshchiner I, Lander ES, Golub TR, Zick A, Orthwein A, Lawrence MS, Batra RN, Caldas C, Haber DA, Laird PW, Shen H, Ellisen LW, D’Andrea AD, Chanock SJ, Foulkes WD, Getz G. Nat Genet. 2017 Oct;49(10):1476-1486. doi: 10.1038/ng.3934. Epub 2017 Aug 21. PMID: 28825726

Functionally Null RAD51D Missense Mutation Associates Strongly with Ovarian Carcinoma. Rivera B, Di Iorio M, Frankum J, Nadaf J, Fahiminiya S, Arcand SL, Burk DL, Grapton D, Tomiak E, Hastings V, Hamel N, Wagener R, Aleynikova O, Giroux S, Hamdan FF, Dionne-Laporte A, Zogopoulos G, Rousseau F, Berghuis AM, Provencher D, Rouleau GA, Michaud JL, Mes-Masson AM, Majewski J, Bens S, Siebert R, Narod SA, Akbari MR, Lord CJ, Tonin PN, Orthwein A, Foulkes WD. Cancer Res. 2017 Aug 15;77(16):4517-4529. doi: 10.1158/0008-5472.CAN-17-0190. Epub 2017 Jun 23. PMID: 28646019 Free Article

CTCF facilitates DNA double-strand break repair by enhancing homologous recombination repair. Hilmi K, Jangal M, Marques M, Zhao T, Saad A, Zhang C, Luo VM, Syme A, Rejon C, Yu Z, Krum A, Fabian MR, Richard S, Alaoui-Jamali M, Orthwein A, McCaffrey L, Witcher M. Sci Adv. 2017 May 24;3(5):e1601898. doi: 10.1126/sciadv.1601898. eCollection 2017 May. PMID: 2856032 – Free PMC Article

BRCA2 functions: from DNA repair to replication fork stabilization. Fradet-Turcotte A, Sitz J, Grapton D, Orthwein A. Endocr Relat Cancer. 2016 Oct;23(10):T1-T17. doi: 10.1530/ERC-16-0297. Epub 2016 Aug 16. Review. PMID: 27530658

HELB Is a Feedback Inhibitor of DNA End Resection. Tkáč J, Xu G, Adhikary H, Young JTF, Gallo D, Escribano-Díaz C, Krietsch J, Orthwein A, Munro M, Sol W, Al-Hakim A, Lin ZY, Jonkers J, Borst P, Brown GW, Gingras AC, Rottenberg S, Masson JY, Durocher D. Mol Cell. 2016 Feb 4;61(3):405-418. doi: 10.1016/j.molcel.2015.12.013. Epub 2016 Jan 7. PMID: 26774285

A mechanism for the suppression of homologous recombination in G1 cells. Orthwein A, Noordermeer SM, Wilson MD, Landry S, Enchev RI, Sherker A, Munro M, Pinder J, Salsman J, Dellaire G, Xia B, Peter M, Durocher D. Nature. 2015 Dec 17;528(7582):422-6. doi: 10.1038/nature16142. Epub 2015 Dec 9. PMID: 266498

HSP90 inhibitors decrease AID levels and activity in mice and in human cells. Montamat-Sicotte D, Litzler LC, Abreu C, Safavi S, Zahn A, Orthwein A, Müschen M, Oppezzo P, Muñoz DP, Di Noia JM. Eur J Immunol. 2015 Aug;45(8):2365-76. doi: 10.1002/eji.201545462. Epub 2015 May 18. PMID: 25912253 – Free PMC Article

MAD2L2 controls DNA repair at telomeres and DNA breaks by inhibiting 5′ end resection. Boersma V, Moatti N, Segura-Bayona S, Peuscher MH, van der Torre J, Wevers BA, Orthwein A, Durocher D, Jacobs JJL. Nature. 2015 May 28;521(7553):537-540. doi: 10.1038/nature14216. Epub 2015 Mar 23. PMID: 25799990 – Free PMC Article

Mitosis inhibits DNA double-strand break repair to guard against telomere fusions. Orthwein A, Fradet-Turcotte A, Noordermeer SM, Canny MD, Brun CM, Strecker J, Escribano-Diaz C, Durocher D. Science. 2014 Apr 11;344(6180):189-93. doi: 10.1126/science.1248024. Epub 2014 Mar 20. PMID: 24652939 – Free Article

53BP1 is a reader of the DNA-damage-induced H2A Lys 15 ubiquitin mark. Fradet-Turcotte A, Canny MD, Escribano-Díaz C, Orthwein A, Leung CC, Huang H, Landry MC, Kitevski-LeBlanc J, Noordermeer SM, Sicheri F, Durocher D. Nature. 2013 Jul 4;499(7456):50-4. doi: 10.1038/nature12318. Epub 2013 Jun 12. PMID: 23760478 – Free PMC Article

A cell cycle-dependent regulatory circuit composed of 53BP1-RIF1 and BRCA1-CtIP controls DNA repair pathway choice. Escribano-Díaz C, Orthwein A, Fradet-Turcotte A, Xing M, Young JT, Tkáč J, Cook MA, Rosebrock AP, Munro M, Canny MD, Xu D, Durocher D. Mol Cell. 2013 Mar 7;49(5):872-83. doi: 10.1016/j.molcel.2013.01.001. Epub 2013 Jan 17. PMID: 23333306 – Free Article

Activation induced deaminase: how much and where? Orthwein A, Di Noia JM. Semin Immunol. 2012 Aug;24(4):246-54. doi: 10.1016/j.smim.2012.05.001. Epub 2012 Jun 9. Review. PMID: 22687198

Optimal functional levels of activation-induced deaminase specifically require the Hsp40 DnaJa1. Orthwein A, Zahn A, Methot SP, Godin D, Conticello SG, Terada K, Di Noia JM. EMBO J. 2012 Feb 1;31(3):679-91. doi: 10.1038/emboj.2011.417. Epub 2011 Nov 15. PMID: 22085931 – Free PMC Article

Regulation of activation-induced deaminase stability and antibody gene diversification by Hsp90. Orthwein A, Patenaude AM, Affar el B, Lamarre A, Young JC, Di Noia JM. J Exp Med. 2010 Nov 22;207(12):2751-65. doi: 10.1084/jem.20101321. Epub 2010 Nov 1. PMID: 21041454 – Free PMC Article

Active nuclear import and cytoplasmic retention of activation-induced deaminase. Patenaude AM, Orthwein A, Hu Y, Campo VA, Kavli B, Buschiazzo A, Di Noia JM. Nat Struct Mol Biol. 2009 May;16(5):517-27. doi: 10.1038/nsmb.1598. Epub 2009 May 3. PMID: 19412186

Productive human immunodeficiency virus type 1 assembly takes place at the plasma membrane. Finzi A, Orthwein A, Mercier J, Cohen EA. J Virol. 2007 Jul;81(14):7476-90. Epub 2007 May 16. PMID: 17507489 – Free PMC Article