Raquel Cuella Martin
Assistant Professor, Department of Human Genetics
Phone: (514) 398-3084
740 Dr Penfield Ave, Room 7506
Montréal, Québec, Canada, H3A 0G1
Raquel Cuella Martin joined the Department of Human Genetics and the Canada Excellence Research Chair in Genomic Medicine as an assistant professor in August 2022. She undertook her Ph.D. studies at Dr. JR. Chapman’s lab at the Wellcome Center for Human Genetics (University of Oxford). During this time, Raquel described the mechanistic role of the DNA repair protein 53BP1 in optimal p53 tumour suppressor responses. In her postdoctoral work as an EMBO long-term fellow at the Ciccia lab (Columbia University), she used CRISPR-dependent base editing to perform genetic screens at nucleotide resolution and functionalize DNA variants at scale. Such an approach allowed her to identify loss-, gain- and separation-of-function mutations, and new functional domains in DNA damage response proteins, and to functionalize variants of uncertain significance in cancer predisposition syndromes.
Our lab applies cutting-edge large-scale precision genome editing to address outstanding mechanistic questions in the DNA damage response and their association with human disorders. We believe that the swift incorporation of large-scale precision genome editing into the day-to-day benchwork at the functional genomics laboratory can transform our approach to complex biological questions. We are interested in the mechanisms whereby DNA repair and checkpoint control activities are integrated, and how they coordinate to preserve cellular homeostasis and suppress tumorigenesis. In addition, we are excited about the power of precision genome editing to understand disease-associated genetic variation and to improve intelligent drug design.
- Simo Cheyou, E, Boni, J, Boulais, J, Pinedo-Carpio, E, Malina, A, Sherill-Rofe, D et al.. Systematic proximal mapping of the classical RAD51 paralogs unravel functionally and clinically relevant interactors for genome stability. PLoS Genet. 2022;18 (11):e1010495. doi: 10.1371/journal.pgen.1010495. PubMed PMID:36374936 PubMed Central PMC9718398.
- Taglialatela, A, Leuzzi, G, Sannino, V, Cuella-Martin, R, Huang, JW, Wu-Baer, F et al.. REV1-Polζ maintains the viability of homologous recombination-deficient cancer cells through mutagenic repair of PRIMPOL-dependent ssDNA gaps. Mol Cell. 2021;81 (19):4008-4025.e7. doi: 10.1016/j.molcel.2021.08.016. PubMed PMID:34508659 PubMed Central PMC8500949.
- Cuella-Martin, R, Hayward, SB, Fan, X, Chen, X, Huang, JW, Taglialatela, A et al.. Functional interrogation of DNA damage response variants with base editing screens. Cell. 2021;184 (4):1081-1097.e19. doi: 10.1016/j.cell.2021.01.041. PubMed PMID:33606978 PubMed Central PMC8018281.
- Joseph, SA, Taglialatela, A, Leuzzi, G, Huang, JW, Cuella-Martin, R, Ciccia, A et al.. Time for remodeling: SNF2-family DNA translocases in replication fork metabolism and human disease. DNA Repair (Amst). 2020;95 :102943. doi: 10.1016/j.dnarep.2020.102943. PubMed PMID:32971328 PubMed Central PMC8092973.
- Huang, JW, Acharya, A, Taglialatela, A, Nambiar, TS, Cuella-Martin, R, Leuzzi, G et al.. MCM8IP activates the MCM8-9 helicase to promote DNA synthesis and homologous recombination upon DNA damage. Nat Commun. 2020;11 (1):2948. doi: 10.1038/s41467-020-16718-3. PubMed PMID:32528060 PubMed Central PMC7290032.
- Nambiar, TS, Billon, P, Diedenhofen, G, Hayward, SB, Taglialatela, A, Cai, K et al.. Stimulation of CRISPR-mediated homology-directed repair by an engineered RAD18 variant. Nat Commun. 2019;10 (1):3395. doi: 10.1038/s41467-019-11105-z. PubMed PMID:31363085 PubMed Central PMC6667477.
- Becker, JR, Cuella-Martin, R, Barazas, M, Liu, R, Oliveira, C, Oliver, AW et al.. The ASCIZ-DYNLL1 axis promotes 53BP1-dependent non-homologous end joining and PARP inhibitor sensitivity. Nat Commun. 2018;9 (1):5406. doi: 10.1038/s41467-018-07855-x. PubMed PMID:30559443 PubMed Central PMC6297349.
- Cuella-Martin, R, Oliveira, C, Lockstone, HE, Snellenberg, S, Grolmusova, N, Chapman, JR et al.. 53BP1 Integrates DNA Repair and p53-Dependent Cell Fate Decisions via Distinct Mechanisms. Mol Cell. 2016;64 (1):51-64. doi: 10.1016/j.molcel.2016.08.002. PubMed PMID:27546791 PubMed Central PMC5065530.