Kinetochore Malfunction in Human Pathologies

Bas de Wolf, Geert J P L Kops

Research output: Contribution to journal/periodicalArticleScientificpeer-review

11 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)69-91
Number of pages23
JournalAdvances in Experimental Medicine and Biology
Publication statusPublished - 2017


  • Aneuploidy
  • Animals
  • Chromosomal Instability
  • Chromosome Segregation
  • Genetic Predisposition to Disease
  • Humans
  • Kinetochores
  • Microcephaly
  • Mitosis
  • Mutation
  • Neoplasms
  • Journal Article
  • Review


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