Molecular biology of cancer

GROUP HEAD BIOGRAPHY

Xose S. Puente is Professor and Head of the Department of Biochemistry and Molecular Biology at the University of Oviedo. D. in 1998, he did a postdoc at The Scripps Research Institute (USA) on the role of proteases in cancer. Since 2003 he has been developing a line of research in comparative genomics and bioinformatics, participating in large international sequencing consortia. He has contributed to the development of tools for detecting tumour mutations, revolutionising our knowledge of chronic lymphocytic leukaemia by identifying more than 60 genes that are drivers of this pathology. Some of these mutations affect non-protein coding regions of great functional relevance, such as the NOTCH1 gene or the U1 snRNA. He has published more than 150 articles in journals such as Nature, Nature Genetics and Leukemia. He co-founded the company DREAMgenics and is actively involved in teaching, training young researchers and dissemination.

SELECTED PUBLICATIONS

• Knisbacher BA, Lin Z, Hahn CK, Nadeu F, Duran-Ferrer M, Stevenson KE, Tausch E, Delgado J, Barbera-Mourelle A, Taylor-Weiner A, Bousquets-Muñoz P, Diaz-Navarro A, Dunford A, Anand S, Kretzmer H, Gutierrez-Abril J, López-Tamargo S, Fernandes SM, Sun C, Sivina M, Rassenti LZ, Schneider C, Li S, Parida L, Meissner A, Aguet F, Burger JA, Wiestner A, Kipps TJ, Brown JR, Hallek M, Stewart C, Neuberg DS, Martín-Subero JI*, Puente XS*, Stilgenbauer S*, Wu CJ*, Campo E*, Getz G*. “Molecular map of chronic lymphocytic leukemia and its impact on outcome” Nature Genet. 54: 1664-1674 (2022) doi: 10.1038/s41588-022-01140
• Quesada V, Freitas-Rodríguez S, Miller J, Pérez-Silva JG, Jiang ZF, Tapia W, Santiago-Fernández O, Campos-Iglesias D, Kuderna LFK, Quinzin M, Álvarez MG, Carrero D, Beheregaray LB, Gibbs JP, Chiari Y, Glaberman S, Ciofi C, Araujo-Voces M, Mayoral P, Arango JR, Tamargo-Gómez I, Roiz-Valle D, Pascual-Torner M, Evans BR, Edwards DL, Garrick RC, Russello MA, Poulakakis N, Gaughran SJ, Rueda DO, Bretones G, Marquès-Bonet T, White KP, Caccone A, López-Otín C. “Giant tortoise genomes provide insights into longevity and age-related disease” Nature Ecol. Evol. 3: 87-95 (2019). doi: 10.1038/s41559-018-0733-x
• Bousquets-Muñoz P, Díaz-Navarro A, Nadeu F, Sánchez-Pitiot A, López-Tamargo S, Shuai S, Balbín M, Tubio JMC, Beà S, Martin-Subero JI, Gutiérrez-Fernández A, Stein LD, Campo E, Puente XS. “PanCancer analysis of somatic mutations in repetitive regions reveals recurrent mutations in snRNA U2” NPJ Genom Med. 2022 Mar 14;7(1):19. doi: 10.1038/s41525-022-00292-2
• Pascual-Torner M, Carrero D, Pérez-Silva JG, Álvarez-Puente D, Roiz-Valle D, Bretones G, Rodríguez D, Maeso D, Mateo-González E, Español Y, Mariño G, Acuña JL, Quesada V, López-Otín C. “Comparative genomics of mortal and immortal cnidarians unveils novel keys behind rejuvenation” Proc Natl Acad Sci U S A 119: e2118763119 (2022) doi: 10.1073/pnas.2118763119.
• Bousquets-Muñoz P, Molina O, Varela I, Álvarez-Eguiluz Á, Fernández-Mateos J, Gómez A, Sánchez EG, Balbín M, Ruano D, Ramírez-Orellana M, Puente XS, Menéndez P, Velasco-Hernandez T. “Backtracking NOM1::ETV6 fusion to neonatal pathogenesis of t(7;12) (q36;p13) infant AML” Leukemia 38(8):1808-1812 (2024) doi: 10.1038/s41375-024-02293-9