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PLoS One. 2015 Aug 31;10(8):e0136684. doi: 10.1371/journal.pone.0136684. eCollection 2015.

Novel Alternative Splice Variants of Mouse Cdk5rap2.

Author information

1
Institute of Cell Biology and Neurobiology, Charité -Universitätsmedizin Berlin, Berlin, Germany; Department of Pediatric Neurology, Charité -Universitätsmedizin Berlin, Berlin, Germany.
2
Centre for Neuroscience, Indian Institute of Science, Bangalore, India.
3
Institute of Cell Biology and Neurobiology, Charité -Universitätsmedizin Berlin, Berlin, Germany.
4
Institute of Cell Biology and Neurobiology, Charité -Universitätsmedizin Berlin, Berlin, Germany; Department of Pediatric Neurology, Charité -Universitätsmedizin Berlin, Berlin, Germany; Sozialpädiatrisches Zentrum (SPZ), Charité -Universitätsmedizin Berlin, Berlin, Germany.

Abstract

Autosomal recessive primary microcephaly (MCPH) is a rare neurodevelopmental disorder characterized by a pronounced reduction of brain volume and intellectual disability. A current model for the microcephaly phenotype invokes a stem cell proliferation and differentiation defect, which has moved the disease into the spotlight of stem cell biology and neurodevelopmental science. Homozygous mutations of the Cyclin-dependent kinase-5 regulatory subunit-associated protein 2 gene CDK5RAP2 are one genetic cause of MCPH. To further characterize the pathomechanism underlying MCPH, we generated a conditional Cdk5rap2 LoxP/hCMV Cre mutant mouse. Further analysis, initiated on account of a lack of a microcephaly phenotype in these mutant mice, revealed the presence of previously unknown splice variants of the Cdk5rap2 gene that are at least in part accountable for the lack of microcephaly in the mice.

PMID:
26322982
PMCID:
PMC4556188
DOI:
10.1371/journal.pone.0136684
[Indexed for MEDLINE]
Free PMC Article

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