Novel Alternative Splice Variants of Mouse Cdk5rap2

PloS One
Nadine KraemerAngela M Kaindl

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.

References

Mar 21, 2000·American Journal of Human Genetics·L MoynihanC G Woods
Dec 6, 2000·Genesis : the Journal of Genetics and Development·F W FarleyS M Dymecki
Jan 30, 2004·Reproductive Biomedicine Online·Zsolt Peter Nagy
Mar 29, 2005·Nature Genetics·Jacquelyn BondC Geoffrey Woods
Oct 24, 2009·Trends in Genetics : TIG·Gemma K Thornton, C Geoffrey Woods
Nov 26, 2009·Progress in Neurobiology·Angela M KaindlPierre Gressens
Jul 16, 2010·Developmental Cell·Jose A BarreraTimothy L Megraw

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Citations

Oct 14, 2018·Essays in Biochemistry·Corinne A Tovey, Paul T Conduit
Sep 27, 2018·The Prostate·Barbora VorlováJan Konvalinka

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Methods Mentioned

BETA
PCR
genotyping
electrophoresis
Protein Assay
confocal microscopy
PCRs

Software Mentioned

Primer Design
GenScript
GraphPad Prism
Zen
Ensembl
Gnomon
Adobe Photoshop
Excel
Ensemble
Magnafire

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