PMID- 12441638
OWN - NLM
STAT- MEDLINE
DCOM- 20030122
LR  - 20061024
IS  - 1234-1983 (Print)
IS  - 1234-1983 (Linking)
VI  - 43
IP  - 4
DP  - 2002
TI  - A novel mutation at position +11 in the intron following exon 10 of the tau gene 
      in FTDP-17.
PG  - 535-43
AB  - 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 T 
      -->C 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.
FAU - Kowalska, Anna
AU  - Kowalska A
AD  - Institute of Human Genetics, Polish Academy of Sciences, ul. Strzeszynska 32, 
      60-479 Poznan, Poland. annkowal@rose.man.poznan.pl
FAU - Hasegawa, Masato
AU  - Hasegawa M
FAU - Miyamoto, Katsuichi
AU  - Miyamoto K
FAU - Akiguchi, Ichiro
AU  - Akiguchi I
FAU - Ikemoto, Akito
AU  - Ikemoto A
FAU - Takahashi, Keikichi
AU  - Takahashi K
FAU - Araki, Wataru
AU  - Araki W
FAU - Tabira, Takeshi
AU  - Tabira T
LA  - eng
PT  - Journal Article
PL  - England
TA  - J Appl Genet
JT  - Journal of applied genetics
JID - 9514582
RN  - 0 (MAPT protein, human)
RN  - 0 (Microtubule-Associated Proteins)
RN  - 0 (tau Proteins)
SB  - IM
MH  - Animals
MH  - COS Cells
MH  - Dementia/genetics
MH  - Humans
MH  - *Introns
MH  - Microtubule-Associated Proteins/*genetics
MH  - Middle Aged
MH  - Mutation
MH  - Parkinson Disease/genetics
MH  - tau Proteins/*genetics
EDAT- 2002/11/21 04:00
MHDA- 2003/01/23 04:00
CRDT- 2002/11/21 04:00
PHST- 2002/11/21 04:00 [pubmed]
PHST- 2003/01/23 04:00 [medline]
PHST- 2002/11/21 04:00 [entrez]
AID - 126 [pii]
PST - ppublish
SO  - J Appl Genet. 2002;43(4):535-43.