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J Biol Chem, Vol. 274, Issue 21, 15134-15143, May 21, 1999

5' Splice Site Mutations in tau Associated with the Inherited Dementia FTDP-17 Affect a Stem-Loop Structure That Regulates Alternative Splicing of Exon 10

Andrew GroverDagger , Henry HouldenDagger , Matt BakerDagger , Jennifer AdamsonDagger , Jada LewisDagger , Guy PriharDagger , Stuart Pickering-Brown§, Karen Duff, and Mike HuttonDagger

From the Dagger  Mayo Clinic Jacksonville, Jacksonville, Florida 32224, the § Division of Neuroscience, School of Biological Sciences, University of Manchester, Manchester M13 9PT, United Kingdom, and the  Nathan Kline Institute, Orangeburg, New York 10962

Missense and splice site mutations in the microtubule-associated protein tau gene were recently found associated with fronto-temporal dementia and parkinsonism linked to chromosome 17 (Poorkaj et al. (1998) Ann. Neurol. 43, 815-825; Hutton et al. (1998) Nature 393, 702-705; Spillantini et al. (1998) Proc. Natl. Acad. Sci. U. S. A. 95, 7737-7741). The mutations in the 5' splice site of exon 10 were shown to increase the ratio of tau mRNAs containing exon 10 and thus the proportion of Tau protein isoforms with 4 microtubule binding repeat domains, although how this increase leads to neurodegeneration is presently unclear. The mechanism by which these mutations increase tau exon 10 splicing was not determined, although the mutations were predicted to disrupt a potential stem-loop structure that was likely involved in the regulation of exon 10 alternative splicing. Here we describe in vitro splicing assays and RNA structural analysis that demonstrate that the mutations do indeed act through disruption of the stem-loop structure and that the stability of this secondary structure feature at least partially determines the ratio of tau exon 10+/- transcripts. In addition, we provide evidence that the stability of the stem-loop structure underlies the alternative splicing of this exon in other species.

Copyright © 1999 by The American Society for Biochemistry and Molecular Biology, Inc.
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