Kinetochore malfunction in human pathologies

Bas de Wolf, Geert J.P.L. Kops*

*Corresponding author for this work

Research output: Chapter in Book/Report/Conference proceedingChapterAcademicpeer-review

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.

Original languageEnglish
Title of host publicationCell Division Machinery and Disease
PublisherSpringer
Pages69-91
Number of pages23
ISBN (Electronic)978-3-319-57127-0
ISBN (Print)978-3-319-57125-6
DOIs
Publication statusPublished - 2017

Publication series

NameAdvances in Experimental Medicine and Biology
Volume1002
ISSN (Print)00652598
ISSN (Electronic)22148019

Keywords

  • Aneuploidy
  • Cancer
  • Cell division
  • Chromosomal instability
  • Development
  • Kinetochore
  • Microcephaly

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