Publications

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

  • Witt, H., Harju, J., Chameau, E.M.J., Bruinsma, C.M.A., Clement, T.V.M., Nielsen, C.F., Hickson, I.D., Peterman, E.J.G., Broedersz, C-P. and Wuite, G.J.L. (2024) Ion-mediated condensation controls the mechanics of mitotic chromosomes. Nature Materials 23, 1556-1562
  • Liu J.C.Y. et al., (2024) Concerted SUMO-targeted ubiquitin ligase activities of TOPORS and RNF4 are essential for stress management and cell proliferation. Nature Struct. & Molec. Biol. 31, 1355-1367.

  • D'Souza J, Hickson ID. Replication fork barriers to study site-specific DNA replication perturbation. DNA Repair (Amst). 2024 Sep;141:103735.

  • Halliwell JA, Martin-Gonzalez J, Hashim A, Dahl JA, Hoffmann ER, Lerdrup M. Sex-specific DNA-replication in the early mammalian embryo. Nat Commun. 2024 Jul 27;15(1):6323.
  • von Rohden E, Jensen CFS, Andersen CY, Sønksen J, Fedder J, Thorup J, Ohl DA, Fode M, Hoffmann ER, Mamsen LS. Male fertility restoration: in vivo and in vitro stem cell-based strategies using cryopreserved testis tissue: a scoping review. Fertil Steril. 2024 Jul 9:S0015-0282(24)00603-4. 

  • Martin CA, Sarlós K, Logan CV, Thakur RS, Parry DA, Bizard AH, Leitch A, Cleal L, Ali NS, Al-Owain MA, Allen W, Altmüller J, Aza-Carmona M, Barakat BAY, Barraza-García J, Begtrup A, Bogliolo M, Cho MT, Cruz-Rojo J, Mundi Dhahrabi HA, Elcioglu NH, GOSgene, Gorman GS, Jobling R, Kesterton I, Kishita Y, Kohda M, Le Quesne Stabej P, Malallah AJ, Nürnberg P, Ohtake A, Okazaki Y, Pujol R, Ramirez MJ, Revah-Politi A, Shimura M, Stevens P, Taylor RW, Turner L, Williams H, Wilson C, Yigit G, Zahavich L, Alkuraya FS, Surralles J, Iglesias A, Murayama K, Wollnik B, Dattani M, Heath KE, Hickson ID, Jackson AP. Mutations in TOP3A Cause a Bloom Syndrome-like Disorder. Am J Hum Genet. 2024 May 2;111(5):996
  • Castejon-Grinan, M., Albers, E., Simon-Carrasco, L., Aguilera, P., Sbroggio, M., Pladevall-Morera, D., Ingham, A., Lim, E., Guillen-Benitez, A., Pietrini, E., Lisby, M., Hickson, I.D. and Lopez-Contreras, A.J. (2024) PICH deficiency limits the progression of MYC-induced B-cell lymphoma. Blood Cancer Journal 14: 16.
  • Steinthorsdottir V, Halldorsson BV, Jonsson H, Palsson G, Oddsson A, Westergaard D, Arnadottir GA, Stefansdottir L, Banasik K, Esplin MS, Hansen TF, Brunak S, Nyegaard M, Ostrowski SR, Pedersen OBV, Erikstrup C; DBDS genomics consortium; Thorleifsson G, Nadauld LD, Haraldsson A, Steingrimsdottir T, Tryggvadottir L, Jonsdottir I, Gudbjartsson DF, Hoffmann ER, Sulem P, Holm H, Nielsen HS, Stefansson K. Variant in the synaptonemal complex protein SYCE2 associates with pregnancy loss through effect on recombination. Nat Struct Mol Biol. 2024 Apr;31(4):710-716.

  • Asserhøj LL, Mizrak I, Lebech Kjaer AS, Clausen TD, Hoffmann ER, Greisen G, Main KM, Madsen PL, Pinborg A, Jensen RB. Blood pressure and lipid profiles in children born after ART with frozen embryo transfer. Hum Reprod Open. 2024 Mar 20;2024(2):hoae016.

  • Jensen CFS, Mamsen LS, Wang D, Fode M, Giwercman A, Jørgensen N, Ohl DA, Fedder J, Hoffmann ER, Yding Andersen C, Sønksen J. Results from the first autologous grafting of adult human testis tissue: a case report. Hum Reprod. 2024 Feb 1;39(2):303-309

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

Previous relevant publications

 

  • Rahul Bhowmick, Mads Lerdrup, Sampath Amitash Gadi, Giacomo G. Rossetti, Manika I. Singh, Ying Liu, Thanos D. Halazonetis, Ian D. Hickson. RAD51 protects human cells from transcription-replication conflicts. Molecular Cell, 2022, 2022 Aug 18;S1097-2765(22)00706-7. 
  • Meijering, A.E.C., Sarlos, K., Nielsen, C.F., Witt, H., Harju, J., Kerklingh, E., Haasnoot, G.H., Bizard, A.H., Heller, I., Broedersz, C.P., Liu, Y., Peterman, E.J.G., Hickson, I.D.* and Wuite, G.J.L.* (2022) Nonlinear mechanics of human mitotic chromosomes. Nature 605, 545-550. *Co-corresponding authors.
  • Macheret, M., Bhowmick, R., Sobkowiak, K., Padayachy, L., Mailler, J., Hickson, I.D.* and Halazonetis, T.D.* (2020) High resolution mapping of mitotic DNA synthesis regions and common fragile sites in the human genome through direct sequencing. Cell Research 30, 997-1008, *Co-corresponding authors.
  • Bizard, A.H., Allemand, J-F., Hassenkam, T., Paramasivam, M., Sarlós, K., Singh, M.I. and Hickson, I.D. (2019) PICH and TOP3A cooperate to induce positive DNA supercoiling. Nature Struct. Molec. Biol., 26, 267-274.
  • Sarlós, K., Biebricher, A.S., Bizard, A.H., Bakx, J.A.M., Ferrete-Bonastre, A.G., Modesti, M., Paramasivam, M., Yao, Q., Peterman, E.J.G., Wuite, G.J.L. and Hickson, I.D. (2018) Reconstitution of anaphase DNA bridge recognition and disjunction in vitro. Nature Structural and Molecular Biology 25, 868-876.
  • Bhowmick R, Minocherhomji S, Hickson ID. RAD52 Facilitates Mitotic DNA Synthesis Following Replication Stress. Mol Cell. 2016 Dec 15;64(6):1117-1126.
  • Minocherhomji, S., Ying, S., Bjerregaard, V.A., Bursomanno, S., Aleliunaite, A., Wu, W., Mankouri, H.W., Shen, H., Liu, Y. and Hickson, I.D. (2015) Replication stress activates DNA repair synthesis in mitosis. Nature 528, 286-290.

 

 

 

 

 

 

  • Bhowmick R, Mehta KPM, Lerdrup M, Cortez D. Integrator facilitates RNAPII removal to prevent transcription-replication collisions and genome instability. Mol Cell. 2023, 83(13):2357-2366.e8. doi: 10.1016/j.molcel.2023.05.015.
  • Li Y, Wang Y, Vera-Rodriguez M, Lindeman LC, Skuggen LE, Rasmussen EMK, Jermstad I, Khan S, Fosslie M, Skuland T, Indahl M, Khodeer S, Klemsdal EK, Jin KX, Dalen KT, Fedorcsak P, Greggains GD, Lerdrup M, Klungland A, Au KF, Dahl JA. Single-cell m6A mapping in vivo using picoMeRIP-seq. Nature Biotech. 2023, doi: 10.1038/s41587-023-01831-7.
  • Hansen SL, Larsen HL, Pikkupeura LM, Maciag G, Guiu J, Müller I, Clement DL, Mueller C, Johansen JV, Helin K, Lerdrup M, Jensen KB, An organoid-based CRISPR/Cas9 screen for regulators of intestinal epithelial maturation. Science Adv. 2023, 9(28):eadg4055. doi: 10.1126/sciadv.adg4055.
  • Maynard S, Hall S, Galanos P, Rizza S, Yamamoto T, Gram HH, Munk SHN, Shoaib M, Sørensen CS, Bohr VA, Lerdrup M*, Maya-Mendoza A*, Bartek J. Lamin A/C impairments cause mitochondrial dysfunction by attenuating PGC1a and the NAMPT-NAD+ pathway. Nucleic Acids Res. 2022, 50 (17), 9948-9965. *) Senior authors
  • Bhowmick R*, Lerdrup M*, Gadi SA, Rossetti GG, Singh MI, Liu Y, Halazonetis TD, Hickson ID. RAD51 protects human cells from transcription-replication conflicts. Mol Cell. 2022 Aug 18:S1097-2765(22)00706-7. doi: 10.1016/j.molcel.2022.07.010. *) Shared first-authors
  • Zonderland G, Vanzo R, Gadi SA, Coscia F, Mund A, Lerdrup M, Benada J, Boos D, Toledo LIT. The TRESLIN-MTBP complex couples completion of DNA replication with S/G2 transition. Mol Cell. 2022. 82(18):3350-3365.e7. doi: 10.1016/j.molcel.2022.08.006.
  • Sankar A, Mohammad F, Sundaramurthy AK, Wang H, Lerdrup M, Tatar T, Helin K. Histone editing elucidates the functional roles of H3K27 methylation and acetylation in mammals. Nat Genet. 2022 Jun;54(6):754-760. doi: 10.1038/s41588-022-01091-2.
  • Shoaib S, Chen Q, Shi X , Nair N, Prasanna C, Yang R, Walter D, Frederiksen KS, Einarsson H, Svensson JP, Liu CF, Ekwall K, Lerdrup M*, Nordenskiöld L*, Sørensen CS*. Histone H4 lysine 20 mono-methylation directly facilitates chromatin openness and promotes transcription of housekeeping genes. Nature Commun. 2021 Aug 20;12(1):4800. doi: 10.1038/s41467-021-25051-2. *) Corresponding authors
  • Sankar A*, Lerdrup M*, Manaf A*, Johansen JV, Gonzalez JM, Borup R, Blanshard R, Klungland A, Hansen K, Andersen CY, Dahl JA, Helin K, Hoffmann ER. KDM4A regulates the maternal-to-zygotic transition by protecting broad H3K4me3 domains from H3K9me3 invasion in oocytes. Nature Cell Biol. 2020 Apr;22(4):380-388. doi: 10.1038/s41556-020-0494-z. *) Shared first-authors
  • Dahl JA, Jung I, Aanes H, Greggains GD, Manaf A, Lerdrup M, Li G, Kuan S, Li B, Lee AY, Preissl S, Jermstad I, Haugen MH, Suganthan R, Bjørås M, Hansen K, Dalen KT, Fedorcsak P, Ren B, Klungland A. Broad histone H3K4me3 domains in mouse oocytes modulate maternal-to-zygotic transition. Nature. 2016 Sep 22;537(7621):548-552. doi: 10.1038/nature19360.
  •  Lerdrup M*, Johansen JV, Agrawal-Singh S, Hansen K*. An interactive environment for agile analysis and visualization of ChIP-sequencing data. Nature Struct Mol Biol. 2016 Apr;23(4):349-57. doi: 10.1038/nsmb.3180. *) Corresponding authors

 

 

 

 

 

 

 

 

 

  • Wu W, Barwacz SA, Bhowmick R, Lundgaard K, Gonçalves Dinis MM, Clausen M, Kanemaki MT, Liu, Y. Mitotic DNA synthesis in response to replication stress requires the sequential action of DNA polymerases zeta and delta in human cells. Nature Communications 2023 Feb 9;14(1):706. doi: 10.1038/s41467-023-35992-5.
  • Meijering AEC, Sarlos K, Nielsen CF, Witt H, Harju J, Kerklingh E, Haasnoot GH, Bizard AH, Heller I, Broedersz CP*, Liu Y, Peterman E J G, Hickson I D*, Wuite G J L*. Nonlinear mechanics of human mitotic chromosomes. Nature 2022 605, 545-550. (*:corresponding authors)
  • Wu W$, Bhowmick R$, Vogel I, Ozer O, Ghisays F, Thakur RS, Sanchez de Leon E, Richter PH, Ren L, Petrini JH, Hickson ID*, and Liu Y*, RTEL1 suppresses G-quadruplex-associated R-loops at difficult-to-replicate loci in the human genome. Nature Structural & Molecular Biology 2020. 27(5): p. 424-437. ($: Joint authorship; *:corresponding authors) 
  • Garribba L, Bjerregaard VA, Goncalves Dinis MM, Ozer O, Wu W, Sakellariou D, Pena-Diaz J, Hickson ID, and Liu Y, Folate stress induces SLX1- and RAD51-dependent mitotic DNA synthesis at the fragile X locus in human cells. Proc Natl Acad Sci U S A, 2020. 117(28): p. 16527-16536.
  • Bjerregaard VA, Garribba L, McMurray CT, Hickson ID, Liu Y. Folate deficiency drives mitotic missegregation of the human FRAXA locus. Proc Natl Acad Sci USA. 2018 Dec 115 (51) 13003-13008
  • Garribba L*, Wu W*, Özer Ö, Bhowmick R, Hickson ID, Liu, Y. Inducing and Detecting Mitotic DNA Synthesis at Difficult-to-Replicate Loci. Methods Enzymol. 2018;601:45-58. (*: Joint authorship)
  • Bjerregaard VA, Özer Ö, Hickson ID, Liu Y. The Detection and Analysis of Chromosome Fragile Sites. Methods in Molecular Biology. 2018;1672:471-482
  • Ren L, Chen L, Wu W, Garribba L, Tian H, Liu Z, Vogel I, Li C, Hickson ID, Liu Y. Potential biomarkers of DNA replication stress in cancer. Oncotarget. 2017 Jun 6;8(23):36996-37008
  • Minocherhomji S*, Ying SM*, Bjerregaard VA, Bursomanno S, Aleliunaite A, Wu W, Mankouri HW, Shen HH§, Liu Y§, Hickson ID§. Replication Stress Activates DNA Repair Synthesis in Mitosis. Nature, 2015 Dec.; 528(7581):286-90.  (*: joint authorship; §: corresponding authors)
  • Bursomanno S, Beli P, Khan AM, Minocherhomji S, Wagner SA, Bekker-Jensen S, Mailand N, Choudhary C, Hickson ID, Liu Y. Proteome-wide analysis of SUMO2 targets in response to pathological DNA replication stress in human cells. DNA Repair, 2015 (25): 84-96
  • Bursomanno S, McGouran JF, Kessler BM, Hickson ID, and Liu Y. Regulation of SUMO2 target proteins by the proteasome in human cells exposed to replication stress Journal of Proteome Research, 2015 Apr 3;14(4):1687-99
  • Liu Y, Nielsen CF, Yao Q, Hickson ID. The origins and processing of ultra-fine anaphase DNA bridges. Current Opinion in Genetics & Development 2014 Apr 30;26:1-5
  • Ying S, Minocherhomji S, Chan KL, Palmai-Pallag T, Chu WK, Wass T, Mankouri HW, Liu Y, Hickson ID. MUS81 promotes common fragile site expression. Nature Cell Biology, 2013 Aug;15(8):1001-7
  • Wilding JL, McGowan S, Liu Y, Bodmer WF, Replication error deficient and proficient colorectal cancer gene expression differences caused by 3'UTR polyT sequence deletions. Proc Natl Acad Sci U S A. 2010 Dec 7;107(49):21058-63
  • Liu Y, and Bodmer WF. Analysis of P53 mutations and their expression in 56 colorectal cancer cell lines. Proc Natl Acad Sci USA, 2006, 103(4):976-81

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

Previous publications from CCS

 

  • Ummethum H, Li J, Lisby M, Oestergaard VH, Emerging roles of the CIP2A-TopBP1 complex in genome integrity. NAR Cancer. 2023 Oct 11;5(4):zcad052
  • Bhowmick R, Hickson ID, Liu Y, Completing genome replication outside of S phase. Mol Cell. 2023 Sep 8:S1097-2765(23)00659-7.

  • Hertz EPT, Vega IA, Kruse T, Wang Y, Hendriks IA, Bizard AH, Eugui-Anta A, Hay RT, Nielsen ML, Nilsson J, Hickson ID, Mailand N. The SUMO-NIP45 pathway processes toxic DNA catenanes to prevent mitotic failure. Nat Struct Mol Biol. 2023 Sep;30(9):1303-1313.

  • Knoblochova L, Duricek T, Vaskovicova M, Zorzompokou C, Rayova D, Ferencova I, Baran V, Schultz RM, Hoffmann ER, Drutovic D. CHK1-CDC25A-CDK1 regulate cell cycle progression and protect genome integrity in early mouse embryos.EMBO Rep. 2023 Sep 11:e56530.

  • Hoffmann E, Andersen PT, Mogensen CB, Prinds C, Primdahl J. Relatives' negotiations with healthcare professionals during older people's admission in an emergency department: An ethnographic study. Nurs Open. 2023 Sep;10(9):6381-6389. 

  • Asserhøj LL, Mizrak I, Heldarskard GF, Clausen TD, Hoffmann ER, Greisen G, Main KM, Madsen PL, Jensen RB, Pinborg A. Childhood BMI after ART with frozen embryo transfer. Hum Reprod. 2023 Aug 1;38(8):1578-1589.

  • Shekari S, Stankovic S, Gardner EJ, Hawkes G, Kentistou KA, Beaumont RN, Mörseburg A, Wood AR, Prague JK, Mishra GD, Day FR, Baptista J, Wright CF, Weedon MN, Hoffmann ER, Ruth KS, Ong KK, Perry JRB, Murray A. Penetrance of pathogenic genetic variants associated with premature ovarian insufficiency. Nat Med. 2023 Jul;29(7):1692-1699.

  •  Tsui V, Lyu R, Novakovic S, Stringer JM, Dunleavy JEM, Granger E, Semple T, Leichter A, Martelotto LG, Merriner DJ, Liu R, McNeill L, Zerafa N, Hoffmann ER, O'Bryan MK, Hutt K, Deans AJ, Heierhorst J, McCarthy DJ, Crismani W. Fancm has dual roles in the limiting of meiotic crossovers and germ cell maintenance in mammals. Cell Genom. 2023 Jun 29;3(8):100349.

  • Mathieson I, Day FR, Barban N, Tropf FC, Brazel DM; eQTLGen Consortium; BIOS Consortium; Vaez A, van Zuydam N, Bitarello BD, Gardner EJ, Akimova ET, Azad A, Bergmann S, Bielak LF, Boomsma DI, Bosak K, Brumat M, Buring JE, Cesarini D, Chasman DI, Chavarro JE, Cocca M, Concas MP, Davey Smith G, Davies G, Deary IJ, Esko T, Faul JD; FinnGen Study; Franco O, Ganna A, Gaskins AJ, Gelemanovic A, de Geus EJC, Gieger C, Girotto G, Gopinath B, Grabe HJ, Gunderson EP, Hayward C, He C, van Heemst D, Hill WD, Hoffmann ER, Homuth G, Hottenga JJ, Huang H, Hyppӧnen E, Ikram MA, Jansen R, Johannesson M, Kamali Z, Kardia SLR, Kavousi M, Kifley A, Kiiskinen T, Kraft P, Kühnel B, Langenberg C, Liew G; Lifelines Cohort Study; Lind PA, Luan J, Mägi R, Magnusson PKE, Mahajan A, Martin NG, Mbarek H, McCarthy MI, McMahon G, Medland SE, Meitinger T, Metspalu A, Mihailov E, Milani L, Missmer SA, Mitchell P, Møllegaard S, Mook-Kanamori DO, Morgan A, van der Most PJ, de Mutsert R, Nauck M, Nolte IM, Noordam R, Penninx BWJH, Peters A, Peyser PA, Polašek O, Power C, Pribisalic A, Redmond P, Rich-Edwards JW, Ridker PM, Rietveld CA, Ring SM, Rose LM, Rueedi R, Shukla V, Smith JA, Stankovic S, Stefánsson K,…See abstract for full author list ➔. Genome-wide analysis identifies genetic effects on reproductive success and ongoing natural selection at the FADS locus. Nat Hum Behav. 2023 May;7(5):790-801

  • Schlaikjær Hartwig T, Ambye L, Gruhn JR, Petersen JF, Wrønding T, Amato L, Chi-Ho Chan A, Ji B, Bro-Jørgensen MH, Werge L, Petersen MMBS, Brinkmann C, Petersen JB, Dunø M, Bache I, Herrgård MJ, Jørgensen FS, Hoffmann ER, Nielsen HS; COPL consortium. Cell-free fetal DNA for genetic evaluation in Copenhagen Pregnancy Loss Study (COPL): a prospective cohort study. Lancet. 2023 Mar 4;401(10378):762-771.

  • Sørensen SG, Shrikhande A, Poulsgaard GA, Christensen MH, Bertl J, Laursen BE, Hoffmann ER, Pedersen JS. Pan-cancer association of DNA repair deficiencies with whole-genome mutational patterns. Elife. 2023 Mar 8;12:e81224.

  • Wu W, Barwacz SA, Bhowmick R, Lundgaard K, Gonçalves Dinis MM, Clausen M, Kanemaki MT, Liu Y. Mitotic DNA synthesis in response to replication stress requires the sequential action of DNA polymerases zeta and delta in human cells. Nat Commun. 2023 Feb 9;14(1):706.

 

 

  • Geng, X., Zhang, C., Wang, J., Ji, F., Li, M., Feng, H., Xing, M., Zhang, L., Li, W., Chen, Z., Hickson, I.D.*, Shen, H.* and Ying, S.* (2022) PICH supports embryonic hematopoiesis by suppressing a cGas-Sting-mediated interferon response. Advanced Science 9, 2103837. *Co-corresponding authors.

  • Spakman, D., Clement, T.V.M., Biebricher, A.S., King, G.A., Singh, M.I., Hickson, I.D., Peterman, E.J.G. and Wuite, G.J.L. (2022) PICH acts as a force-dependent nucleosome remodeler. Nature Communications 13, 7277.

  • Hoffmann E, Andersen PT, Mogensen CB, Prinds C, Primdahl J. Relatives' negotiation power in relation to older people's acute hospital admission: A qualitative interview study. Scand J Caring Sci. 2022 Dec;36(4):1016-1026.

  • Gruhn JR, Hoffmann ER. Errors of the Egg: The Establishment and Progression of Human Aneuploidy Research in the Maternal Germline. Annu Rev Genet. 2022 Nov 30;56:369-390. Review.

  • Hoffmann E, Wilburn-Wren K, Dillon SJ, Barahona A, McIntire DD, Nelson DB. Impact of implementation of the Maternal-Fetal Triage Index on patients presenting with severe hypertension. Am J Obstet Gynecol. 2022 Sep;227(3):521.e1-521.e8.

  • Capalbo A, Buonaiuto S, Figliuzzi M, Damaggio G, Girardi L, Caroselli S, Poli M, Patassini C, Cetinkaya M, Yuksel B, Azad A, Grøndahl ML, Hoffmann ER, Simón C, Colonna V, Kahraman S. Maternal exome analysis for the diagnosis of oocyte maturation defects and early embryonic developmental arrest. Reprod Biomed Online. 2022 Sep;45(3):508-518.

  • Wang D, Hildorf S, Ntemou E, Dong L, Pors SE, Mamsen LS, Fedder J, Hoffmann ER, Clasen-Linde E, Cortes D, Thorup J, Andersen CY. Characterization and Survival of Human Infant Testicular Cells After Direct Xenotransplantation. Front Endocrinol (Lausanne). 2022 Mar 10;13:853482.

  • Jensen, C. F. S., Mamsen, L. S., Wang, D., Fode, M., Giwercman, A., Jørgensen, N., Ohl, D., Fedder, J., Hoffmann, E. R., Andersen, C. Y., & Sønksen, J. O. R. (2022). Male fertility restoration - results from the first autologous grafting of human testis tissue. Abstract from Danish Urological Association 2022, Kolding, Denmark.

  • Jensen CFS, Dong L, Gul M, Fode M, Hildorf S, Thorup J, Hoffmann E, Cortes D, Fedder J, Andersen CY, Sønksen J. Fertility preservation in boys facing gonadotoxic cancer therapy. Nat Rev Urol. 2022 Feb;19(2):71-83. Review

  • Maynard S, Hall A, Galanos P, Rizza S, Yamamoto T, Gram HH, Munk SHN, Shoaib M, Sørensen CS, Bohr VA, Lerdup M. Lamin A/C impairments cause mitochondrial dysfunction by attenuating PGCa and the NAMPT-NAD+ pathway. Nucleic Acids Research, 2022, Vol 50, 17, 9948-9965

  • Polasek-Sedlackova H, Miller TCR, Krejci J, Rask MB, Lukas J Solving the MCM paradox by visualizing the scaffold of CMG helicase at active replisomes.  Nature Communications. 2022 Oct 14;13(1):6090.

  • Zonderland G, Vanzo R, Amitash S, Martín-Doncel E, Coscia F, Mund A, Lerdrup M, Benada J, Boos D, Toledo L.
    The TRESLIN-MTBP complex couples completion of DNA replication with S/G2 transition. Molecular Cell. 2022 Sep 15;82(18):3350-3365.e7.

  • Rahul Bhowmick, Mads Lerdrup, Sampath Amitash Gadi, Giacomo G. Rossetti, Manika I. Singh, Ying Liu, Thanos D. Halazonetis, Ian D. Hickson. RAD51 protects human cells from transcription-replication conflicts. Molecular Cell, 2022, 2022 Aug 18;S1097-2765(22)00706-7. 

  • Meijering, A.E.C., Sarlos, K., Nielsen, C.F., Witt, H., Harju, J., Kerklingh, E., Haasnoot, G.H., Bizard, A.H., Heller, I., Broedersz, C.P., Liu, Y., Peterman, E.J.G., Hickson, I.D.* and Wuite, G.J.L.* (2022) Nonlinear mechanics of human mitotic chromosomes. Nature 605, 545-550. *Co-corresponding authors.

  • Vajen B, Bhowmick R, Greiwe L, Schäffer V, Eilers M, Reinkens T, Stalke A, Schmidt G, Fiedler J, Thum T, DeLuca DS, Hickson ID, Schlegelberger B, Illig T, Skawran B. MicroRNA-449a Inhibits Triple Negative Breast Cancer by Disturbing DNA Repair and Chromatid Separation.Int J Mol Sci. 2022 May 4;23(9):5131.

  • Pühringer T, Greiwe JF, Miller TCR*, Costa A*. ReconSil: An electron microscopy toolbox to study helicase function at an origin of replication. Methods in Enzymology, Academic Press, 2022, ISSN 0076-6879, *Corresponding authors

  • Schubert L, Hendriks IA, Hertz EPT, Wu W, Sellés-Baiget S, Hoffmann S, Viswalingam KS, Gallina I, Pentakota S, Benedict B, Johansen J, Apelt K, Luijsterburg MS, Rasmussen S, Lisby M, Liu Y, Nielsen ML, Mailand N, Duxin JP. SCAI promotes error-free repair of DNA interstrand crosslinks via the Fanconi anemia pathway. .EMBO Rep. 2022 Apr 5;23(4):e53639.

  • Jensen CFS, Dong L, Gul M, Fode M, Hildorf S, Thorup J, Hoffmann E, Cortes D, Fedder J, Andersen CY, Sønksen J. Fertility preservation in boys facing gonadotoxic cancer therapy. Nat Rev Urol. 2022 Feb;19(2):71-83. Review

  • Greiwe JF, Zanetti G, Miller TCR, Costa A. In silico reconstitution of DNA replication. Lessons from single-molecule imaging and cryo-tomography applied to single-particle cryo-EM. Curr Opin Struct Biol. 2022 Jan 10;72:279-286. Review
  • Greiwe JF, Miller TCR, Locke J, Martino F, Howell S, Schreiber A, Nans A, Diffley JFX, Costa A. Structural mechanism for the selective phosphorylation of DNA-loaded MCM double hexamers by the Dbf4-dependent kinase. Nat Struct Mol Biol. 2022 Jan;29(1):10-20.
  • Bakx JAM, Biebricher AS, King GA, Christodoulis P, Sarlós K, Bizard AH, Hickson ID, Wuite GJL, Peterman EJG. Duplex DNA and BLM regulate gate opening by the human TopoIIIα-RMI1-RMI2 complex. Nat Commun. 2022 Jan 31;13(1):584.

 

 

  • Wiegard A, Kuzin V, Cameron DP, Grosser J, Ceribelli M, Mehmood R, Ballarino R, Valant F, Grochowski R, Karabogdan I, Crosetto N, Lindqvist A, Bizard AH, Kouzine F, Natsume T, Baranello L. Topoisomerase 1 activity during mitotic transcription favors the transition from mitosis to G1. Mol Cell. 2021 Dec 16;81(24):5007-5024.e9.

  • Capalbo A, Poli M, Rienzi L, Girardi L, Patassini C, Fabiani M, Cimadomo D, Benini F, Farcomeni A, Cuzzi J, Rubio C, Albani E, Sacchi L, Vaiarelli A, Figliuzzi M, Findikli N, Coban O, Boynukalin FK, Vogel I, Hoffmann E, Livi C, Levi-Setti PE, Ubaldi FM, Simón C. Mosaic human preimplantation embryos and their developmental potential in a prospective, non-selection clinical trial. Am J Hum Genet. 2021 Dec 2;108(12):2238-2247.

  • Liu JCY, Kühbacher U, Larsen NB, Borgermann N, Garvanska DH, Hendriks IA, Ackermann L, Haahr P, Gallina I, Guérillon C, Branigan E, Hay RT, Azuma Y, Nielsen ML, Duxin JP, Mailand NMechanism and function of DNA replication-independent DNA-protein crosslink repair via the SUMO-RNF4 pathway.  EMBO J. 2021 Sep 15;40(18):e107413
  • Shoaib M, Chen Q, Shi X, Nair N, Prasanna C, Yang R, Walter D, Frederiksen KS, Einarsson H, Svensson JP, Liu CF, Ekwall K, Lerdrup M, Nordenskiöld L, Sørensen CS Histone H4 lysine 20 mono-methylation directly facilitates chromatin openness and promotes transcription of housekeeping genes.  Nat Commun. 2021 Aug 20;12(1):4800
  • Halliwell JA, Hoffmann ER, First come, first served: Mammalian recombination is timed to replication, Cell. 2021 Aug 5;184(16):4112-4114.
  • Garribba, L., Vogel, I., Lerdrup, M., Goncalves Dinis, M.M., Ren, L., and Liu, Y. (2021). Folate Deficiency Triggers the Abnormal Segregation of a Region With Large Cluster of CG-Rich Trinucleotide Repeats on Human Chromosome 2. Front Genet. 2021 Jul 1;12:695124
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  • Capalbo A, Poli M, Riera-Escamilla A, Shukla V, Kudo Høffding M, Krausz C, Hoffmann ER, Simon C. Preconception genome medicine: current state and future perspectives to improve infertility diagnosis and reproductive and health outcomes based on individual genomic data. Hum Reprod Update. 2021 Feb 19;27(2):254-279.

  • Vogel, I., Cai, L., Jerman-Plesec, L., and Hoffmann, E. R.(2021). “SureTypeSCR: R package for rapid quality control and genotyping of SNP arrays from single cells”. F1000Research, in press.
  • Ruth*, Day*, Hussain*, Martinez-Marchal*,….Hoffmann, E.R*., Murray, A*., Roig, I*., and Perry, J.R.P.* (in press). “Genetic insights into the biological mechanisms governing human ovarian ageing”. Nature, in press. *equal contributions.
  • Hassold, T., Maylor-Hagen, H., Wood, A., Gruhn, J., Hoffmann, E., Broman, K. W., and Hunt, P. (2021). “Failure to recombination is a common feature of human oogenesis”. American Journal of Human Genetics, 108: 16-24.
  • Egerup, P., Olsen, L. F., Christiansen, A.M.H., Westergaard, D., Severinsen, E. R., Hviid K. V. R., Kolte, A. M., Boje, A. D., Bertelsen, A.L.M.F., Prætorius, L., Zedeler, A., Nielsen, J. R., Bang, D., Berntsen, S., Ethelberg-Findsen, J., Storm, D. M. Bello-Rodrigues, J., Ingham, A., Olle-Lopez, J., Hoffmann, E. R., Wilken-Jensen, C., Krebs, L., Jørgensen, F. S., Westh, H., Jørgsensen, H. L., Freisesleben, N.L.C., and Nielsen, H. S. (2021). Severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) Antibodies at Delivery in Women, Partners, and Newborns. Obstetrics and Gynaecology 137: 49-55.
  • La Cour Freiesleben, Egerup, N., Christianssen, A-M., H., Westergaard, D., …..Hoffmann, E.R., Wilken-Jensen, C., Krebs, L., Jørgensen, F.S-, Westh, H., Jørgensen, H.L., la Cour Freiesleben, N., and Nielsen, H. S. (2021). “SARS-CoV-2 in first trimester pregnancy: a cohort study”. Human Reproduction 36: 40-47.
  • Olsen, K. W., Castillo-Fernandez, J., Chan, Chi-ho, Freiesleben, N. l. C., Zedeler, A., Bungum, M., Cardona, A., Perry, J. R. B., Skouby, S. O., Hoffmann, E. R., Kelsey ,G., and Grøndahl, M. L. (2021). “Identification of a unique epigenetic profile in women with diminished ovarian reserved”. Fertility and Sterility 115: 732-741.
  • Levy, B., Hoffmann, E.R., McCoy, R. C., and Grati, F. R. (2021). “Chromosomal mosaicism: origins and clinical implications in preimplantation and prenatal diagnosis”. Prenatal Diagnosis 41: 631-641.
  • Lena Wartosch, Karen Schindler, Melina Schuh, Jennifer R. Gruhn, Eva R. Hoffmann*, Rajiv C. McCoy, and Jinchuan Xing (2021). “Origins and mechanisms leading to aneuploidy in human eggs”. Prenatal Diagnosis 41: 620-630.
    *corresponding author, author list generated in random order.
  • Shukla, V. S., Høffding, Hoffmann, E. R. (2021). ”Genome diversity and instability in human germ cells and preimplantation embryos”. Seminars in Cell and Developmental Biology 113: 132-147.