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Kinetochore Malfunction in Human Pathologies

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Cell Division Machinery and Disease

Part of the book series: Advances in Experimental Medicine and Biology ((AEMB,volume 1002))

Abstract

The cell cycle culminates in mitosis with the purpose of dividing the cell’s DNA content equally over two daughter cells. Error-free segregation relies on correct connections between chromosomes and spindle microtubules. Kinetochores are complex multi-protein assemblies that mediate these connections and are the platforms for attachment-error-correction and spindle assembly checkpoint signaling. Proper kinetochore function is therefore key in preventing aneuploidization. Mutations in genes encoding kinetochore proteins are associated with several severe developmental disorders associated with microcephaly, and kinetochore defects contribute to chromosomal instability in certain cancers. This chapter gives an overview of the processes necessary for faithful chromosome segregation and how kinetochore malfunction causes various human pathologies.

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Authors and Affiliations

  1. Hubrecht Institute – KNAW (Royal Netherlands Academy of Arts and Sciences), Uppsalalaan 8, 3584 CT, Utrecht, The Netherlands

    Bas de Wolf & Geert J. P. L. Kops

  2. Cancer Genomics Netherlands, University Medical Center Utrecht, 3584 CG, Utrecht, The Netherlands

    Geert J. P. L. Kops

  3. Center for Molecular Medicine, University Medical Center Utrecht, 3584 CG, Utrecht, The Netherlands

    Geert J. P. L. Kops

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  1. Bas de Wolf
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  1. Department of Cell Physiology and Metabolism, Faculty of Medicine, Geneva University, Geneva, Switzerland

    Monica Gotta

  2. Department of Cell Physiology and Metabolism, Faculty of Medicine, Geneva University, Geneva, Switzerland

    Patrick Meraldi

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de Wolf, B., Kops, G.J.P.L. (2017). Kinetochore Malfunction in Human Pathologies. In: Gotta, M., Meraldi, P. (eds) Cell Division Machinery and Disease. Advances in Experimental Medicine and Biology, vol 1002. Springer, Cham. https://doi.org/10.1007/978-3-319-57127-0_4

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