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

• Authors: A. Kowalska , M. Hasegawa , K. Miyamoto , I. Akiguchi , A. Ikemoto , K. Takahashi , W. Araki , T. Tabira
• Languages of publication: EN

Abstracts

EN

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.

Keywords

EN

ALTERNATIVE SPLICING; FRONTOTEMPORAL DEMENTIA; MUTATION; TAU GENE

Discipline

• GENETICS: GENETICS

• Publisher: Institute of Plant Genetics, Polish Academy of Sciences
• Journal: Journal of Applied Genetics
• Year: 2002
• Volume: 43
• Issue: 4
• Pages: 535-543

Contributors

author

A. Kowalska

author

M. Hasegawa

author

K. Miyamoto

author

I. Akiguchi

author

A. Ikemoto

author

K. Takahashi

author

W. Araki

author

T. Tabira

• Document Type: SHORT COMMUNICA
• Publication order reference: A. Kowalska, Institute of Human Genetics, Polish Academy of Sciences, ul. Strzeszynska 32, 60-479 Poznan, Poland