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DNA Polymerases and Diseases

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Genome Integrity

Part of the book series: Genome Dynamics and Stability ((GENOME,volume 1))

Abstract

In this chapter, we would like to highlight the possible connections between DNA polymerases, the main enzymes in DNA metabolism, and human diseases, also critically evaluating those cases where the experimental data are not fully convincing. To this aim, we will first give a short overview of the three main DNA metabolic events, namely replication, repair and recombination, as well as of the checkpoint pathways acting in response to DNA damage. Besides a role in replication of the genome, DNA polymerases also have fundamental functions in other aspects of DNA metabolism, such as DNA repair, DNA recombination, translesion DNA synthesis and cell cycle checkpoint. In the last 10 years, numerous novel DNA polymerases have been revealed, but their exact cellular functions still await clarification. This review summarizes the known eukaryotic DNA polymerases and their relationships with human diseases.

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Authors and Affiliations

  1. Institute of Veterinary Biochemistry and Molecular Biology, University of Zürich, Winterthurerstrasse 190, 8057, Zürich, Switzerland

    Kristijan Ramadan & Ulrich Hübscher

  2. Istituto di Genetica Molecolare, Consiglio Nazionale delle Ricerche, via Abbiategrasso 207, 27100, Pavia, Italy

    Giovanni Maga

  3. Institute of Biochemistry, ETH Zürich, 8093, Zürich, Switzerland

    Kristijan Ramadan

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  1. Kristijan Ramadan
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  2. Giovanni Maga
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  3. Ulrich Hübscher
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Correspondence to Ulrich Hübscher .

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Dirk-Henner Lankenau

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Ramadan, K., Maga, G., Hübscher, U. (2005). DNA Polymerases and Diseases. In: Lankenau, DH. (eds) Genome Integrity. Genome Dynamics and Stability, vol 1. Springer, Berlin, Heidelberg . https://doi.org/10.1007/7050_005

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