Cellular and Molecular Life Sciences

, Volume 68, Issue 10, pp 1719–1736 | Cite as

What’s the hype about CDK5RAP2?

  • Nadine Kraemer
  • Lina Issa
  • Stefanie C. R. Hauck
  • Shyamala Mani
  • Olaf Ninnemann
  • Angela M. Kaindl
Review

Abstract

Cyclin dependent kinase 5 regulatory subunit-associated protein 2 (CDK5RAP2) has gained attention in the last years following the discovery, in 2005, that recessive mutations cause primary autosomal recessive microcephaly. This disease is seen as an isolated developmental defect of the brain, particularly of the cerebral cortex, and was thus historically also referred to as microcephalia vera. Unraveling the pathomechanisms leading to this human disease is fascinating scientists because it can convey insight into basic mechanisms of physiologic brain development (particularly of cortex formation). It also finds itself in the spotlight because of its implication in trends in mammalian evolution with a massive increase in the size of the cerebral cortex in primates. Here, we provide a timely overview of the current knowledge on the function of CDK5RAP2 and mechanisms that might lead to disease in humans when the function of this protein is disturbed.

Keywords

Microcephaly MCPH CDK5RAP2 CDK5 Centrosome Spindle Cell cycle Mental retardation 

Supplementary material

18_2011_635_MOESM1_ESM.ppt (134 kb)
Supplementary material 1 (PPT 134 kb)
18_2011_635_MOESM2_ESM.doc (28 kb)
Supplementary material 2 (DOC 28 kb)
18_2011_635_MOESM3_ESM.doc (20 kb)
Supplementary material 3 (DOC 19 kb)

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Copyright information

© Springer Basel AG 2011

Authors and Affiliations

  • Nadine Kraemer
    • 1
    • 2
  • Lina Issa
    • 1
    • 2
  • Stefanie C. R. Hauck
    • 1
    • 2
  • Shyamala Mani
    • 3
  • Olaf Ninnemann
    • 2
  • Angela M. Kaindl
    • 1
    • 2
    • 4
  1. 1.Department of Pediatric NeurologyCharité, Universitätsmedizin BerlinBerlinGermany
  2. 2.Institute of Neuroanatomy and Cell Biology, Center for AnatomyCharité, Universitätsmedizin BerlinBerlinGermany
  3. 3.Center for NeuroscienceIndian Institute of ScienceBangaloreIndia
  4. 4.Institute of Neuroanatomy and Cell Biology and Department of Pediatric Neurology, Charité, Universitätsmedizin Berlin, Center for AnatomyCharité, Universitätsmedizin BerlinBerlinGermany

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