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The publication “CDK5RAP2 Is Required to Maintain the Germ Cell Pool during Embryonic Development” was published in Stem Cell Reports under open access conditions with a total of only five authors and a high proportion of BIH affiliates. 

Kaindl has shown in the past that mutations of the CDK5RAP2 gene lead to microcephaly. This paper shows for the first time that the ubiquitously expressed Cdk5rap2 is also required to maintain germ cells during embryonic development. Certain genetic mutations in CDK5RAP2 lead to mitotic delay in germ cells, which is connected to the large-scale death of germ cell derivatives and sterility in male mice. Identifying the mechanisms that cause this death will enhance our understanding of the development of microcephaly and could open up new approaches to the diagnosis of this and other genetic diseases.

Zaqout S, Bessa P, Krämer N, Stoltenburg-Didinger G, Kaindl AM. CDK5RAP2 Is Required to Maintain the Germ Cell Pool during Embryonic Development. Stem Cell Reports. 2017 Jan 31. pii: S2213-6711(17)30017-6. doi: 10.1016/j.stemcr.2017.01.002

Since the publication was published under Open Access conditions, it is freely available. Download here


Gene products linked to microcephaly have been studied foremost for their role in brain development, while their function in the development of other organs has been largely neglected. Here, we report the critical role of Cdk5rap2 in maintaining the germ cell pool during embryonic development. We highlight that infertility in Cdk5rap2 mutant mice is secondary to a lack of spermatogenic cells in adult mice as a result of an early developmental defect in the germ cells through mitotic delay, prolonged cell cycle, and apoptosis.