Schumacher, Björn - A 10

Bypassing hotspot mutated p53

Prof. Dr. Björn Schumacher
Prof. Dr. Björn Schumacher

Institute for Genome Stability in Ageing and Disease | CECAD Research Center

CMMC - PI - A 10

Institute for Genome Stability in Ageing and Disease | CECAD Research Center

Joseph-Stelzmann-Str. 26

50931 Cologne

Introduction

The tumour suppressor p53 is the single most frequently mutated gene in human cancers. The p53 protein is activated in response to DNA damage and induces cell cycle arrest, apoptosis, or cellular senescence. Mutations in p53 abrogate this DNA damage checkpoint response leading to survival and proliferation of cells that as a consequence of DNA damage carry further mutations.

The mutational inactivation of p53 is thus a key step in tumorigenesis. It was shown that reactivation of p53 in cancer cells of transgenic mice effectively reinstates the tumour suppressive control and eliminates the cancer cells. Therapeutic reactivation of mutated p53 is thus of major interest in devising a widely applicable cancer therapy.

In the past decades both structural biology-based chemical approaches as well as more recent immunological approaches have been pursued but thus far have failed to provide clinically impactful p53 therapeutics. We have developed an innovative and new approach using the power of forward genetics for identifying suppressor targets of mutated p53. Here, we will systematically employ our experimental system to isolate targets that could bypass mutated p53 to reinstate the apoptotic response.

Clinical Relevance

Hotspot mutations in the tumour suppressor p53 are the most common mutations in human cancers. Suppression of the apoptotic defect in cells carrying mutated p53 is of major therapeutic interest because it might be applicable to a large number of tumour entities. Here, we will identify bypass mechanisms that could offer new therapeutic routes for specifically reinstating the apoptotic response in cancer cells carrying hotspot mutations in p53. Our project has thus a major translational and potentially therapeutic perspective.

Approach

  • Genetics
  • Cell biology
  • Biochemistry
  • Bioinformatics

Lab Website

For more information about Prof. Schumacher´s work, please check Schumacher Lab

2024 (up to June)
  • Arvanitaki ES, Goulielmaki E, Gkirtzimanaki K, Niotis G, Tsakani E, Nenedaki E, Rouska I, Kefalogianni M, Xydias D, Kalafatakis I, Psilodimitrakopoulos S, Karagogeos D, Schumacher B, Stratakis E, and Garinis GA (2024). Microglia-derived extracellular vesicles trigger age-related neurodegeneration upon DNA damage. Proc Natl Acad Sci U S A121, e2317402121. doi:10.1073/pnas.2317402121.
     
  • Meyer DH, and Schumacher B (2024). Aging clocks based on accumulating stochastic variation. Nat Aging. doi:10.1038/s43587-024-00619-x.
     
  • Moliere A, Park JYC, Goyala A, Vayndorf EM, Zhang B, Hsiung KC, Jung Y, Kwon S, Statzer C, Meyer D, Nguyen R, Chadwick J, Thompson MA, Schumacher B, Lee SV, Essmann CL, MacArthur MR, Kaeberlein M, David D, Gems D, and Ewald CY (2024). Improved resilience and proteostasis mediate longevity upon DAF-2 degradation in old age. Geroscience. doi:10.1007/s11357-024-01232-x.
     
  • Panier S, Wang S, and Schumacher B (2024). Genome Instability and DNA Repair in Somatic and Reproductive Aging. Annu Rev Pathol19, 261-290. doi:10.1146/annurev-pathmechdis-051122-093128.
     
  • Rieckher M, Gallrein C, Alquezar-Artieda N, Bourached-Silva N, Vaddavalli PL, Mares D, Backhaus M, Blindauer T, Greger K, Wiesner E, Pontel LB, and Schumacher B (2024). Distinct DNA repair mechanisms prevent formaldehyde toxicity during development, reproduction and aging. Nucleic Acids Res. doi:10.1093/nar/gkae519.
     
  • Ropert B, Gallrein C, and Schumacher B (2024). DNA repair deficiencies and neurodegeneration. DNA Repair (Amst)138, 103679. doi:10.1016/j.dnarep.2024.103679.
     
  • Siametis A, Stratigi K, Giamaki D, Chatzinikolaou G, Akalestou-Clocher A, Goulielmaki E, Luke B, Schumacher B, and Garinis GA (2024). Transcription stress at telomeres leads to cytosolic DNA release and paracrine senescence. Nat Commun15, 4061. doi:10.1038/s41467-024-48443-6.
2023
  • Bujarrabal-Dueso A, Sendtner G, Meyer DH, Chatzinikolaou G, Stratigi K, Garinis GA, and Schumacher B (2023). The DREAM complex functions as conserved master regulator of somatic DNA-repair capacities. Nat Struct Mol Biol 30, 475-488. doi:10.1038/s41594-023-00942-8.
     
  • Clahsen T, Hadrian K, Notara M, Schlereth SL, Howaldt A, Prokosch V, Volatier T, Hos D, Schroedl F, Kaser-Eichberger A, Heindl LM, Steven P, Bosch JJ, Steinkasserer A, Rokohl AC, Liu H, Mestanoglu M, Kashkar H, Schumacher B, Kiefer F, Schulte-Merker S, Matthaei M, Hou Y, Fassbender S, Jantsch J, Zhang W, Enders P, Bachmann B, Bock F, and Cursiefen C (2023). The novel role of lymphatic vessels in the pathogenesis of ocular diseases. Prog Retin Eye Res 96, 101157. doi:10.1016/j.preteyeres.2022.101157.
     
  • Gallrein C, Williams AB, Meyer DH, Messling JE, Garcia A, and Schumacher B (2023). baz-2 enhances systemic proteostasis in vivo by regulating acetylcholine metabolism. Cell Rep 42, 113577. doi:10.1016/j.celrep.2023.113577.
     
  • Vijg J, Schumacher B, Abakir A, Antonov M, Bradley C, Cagan A, Church G, Gladyshev VN, Gorbunova V, Maslov AY, Reik W, Sharifi S, Suh Y, and Walsh K (2023). Mitigating age-related somatic mutation burden. Trends Mol Med 29, 530-540. doi:10.1016/j.molmed.2023.04.002.
     
  • Volatier T, Schumacher B, Meshko B, Hadrian K, Cursiefen C, and Notara M (2023). Short-Term UVB Irradiation Leads to Persistent DNA Damage in Limbal Epithelial Stem Cells, Partially Reversed by DNA Repairing Enzymes. Biology (Basel) 12. doi:10.3390/biology12020265.
     
  • Wang S, Meyer DH, and Schumacher B (2023). Inheritance of paternal DNA damage by histone-mediated repair restriction. Nature 613, 365-374. doi:10.1038/s41586-022-05544-w.