Review

Cellular and Molecular Life Sciences

, Volume 68, Issue 10, pp 1719-1736

First online:

What’s the hype about CDK5RAP2?

  • Nadine KraemerAffiliated withDepartment of Pediatric Neurology, Charité, Universitätsmedizin BerlinInstitute of Neuroanatomy and Cell Biology, Center for Anatomy, Charité, Universitätsmedizin Berlin
  • , Lina IssaAffiliated withDepartment of Pediatric Neurology, Charité, Universitätsmedizin BerlinInstitute of Neuroanatomy and Cell Biology, Center for Anatomy, Charité, Universitätsmedizin Berlin
  • , Stefanie C. R. HauckAffiliated withDepartment of Pediatric Neurology, Charité, Universitätsmedizin BerlinInstitute of Neuroanatomy and Cell Biology, Center for Anatomy, Charité, Universitätsmedizin Berlin
  • , Shyamala ManiAffiliated withCenter for Neuroscience, Indian Institute of Science
  • , Olaf NinnemannAffiliated withInstitute of Neuroanatomy and Cell Biology, Center for Anatomy, Charité, Universitätsmedizin Berlin
  • , Angela M. KaindlAffiliated withDepartment of Pediatric Neurology, Charité, Universitätsmedizin BerlinInstitute of Neuroanatomy and Cell Biology, Center for Anatomy, Charité, Universitätsmedizin BerlinInstitute of Neuroanatomy and Cell Biology and Department of Pediatric Neurology, Charité, Universitätsmedizin Berlin, Center for Anatomy, Charité, Universitätsmedizin Berlin Email author 

Rent the article at a discount

Rent now

* Final gross prices may vary according to local VAT.

Get Access

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