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A novel mutation at position +11 in the intron following exon 10 of the tau gene in FTDP-17

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Kowalska A., Hasegawa M., Miyamoto K., Akiguchi I., Ikemoto A., Takahashi K., Araki W., Tabira T.

Journal of Applied Genetics

2002

vol. 43

issue 4

535-543

Mutations in the microtubule-associated tau gene are responsible for frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17). A reduced ability of the mutated microtubule-associated tau protein to interact with microtubules causes microtubule destabilization leading to deleterious effects on axonal transport and the formation of tau filaments. Here, we describe a new mutation of the tau gene, a T C transition at position +11 of the intron following exon 10 (T C 3?E10 +11) in the family showing frontotemporal dementia with very early age of onset (the first decade of proband?s life). The TC 3?E10 +11 mutation caused a large increase in the proportion of transcripts containing exon 10 detected by exon-trapping analysis. Our study confirmed that the T C 3?E10 +11 mutation, as the other 5? splice site mutations of tau exon 10, modifies alternative splicing of exon 10.

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1 Journal of Applied Genetics

1 2002

1 Akiguchi I.

1 Araki W.

1 Hasegawa M.

1 Ikemoto A.

1 Kowalska A.

1 Miyamoto K.

1 Tabira T.

1 Takahashi K.

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A novel mutation at position +11 in the intron following exon 10 of the tau gene in FTDP-17