Quantitative PCR analysis of different splice forms of NFAT5 revealed specific gene expression in fetal and adult brain.
To investigate sequences or mutations associated with neurodegenerative disorders, we performed analyses for the NFAT5 gene, which is located in the candidate region for the autosomal dominantly inherited spinocerebellar ataxia type 4 (SCA4). PCR based expression analyses detected NFAT5 transcripts with alternative splicing in 27 fetal and adult human tissues. Interestingly, by using quantitative methods on cDNA from fetal and adult human brain a significant difference at the expression level for one splice form could be shown.
Dalski
A
A
Universität Lübeck, Institut für Humangenetik, Ratzeburger Allee 160, D-23538, Lübeck, Germany. dalski@medinf.mu-luebeck.de
Wagner
H J
HJ
Schwinger
E
E
Zühlke
C
C
D000328:Adult; D017398:Alternative Splicing / Q000235:genetics*; D001923:Brain Chemistry / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics*; D005091:Exons; D005333:Fetus; D018507:Gene Expression Regulation, Developmental; D006801:Humans; D007438:Introns; D008969:Molecular Sequence Data; D050778:NFATC Transcription Factors; D016133:Polymerase Chain Reaction / Q000379:methods; D022821:RNA Splice Sites; D020754:Spinocerebellar Ataxias / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*
D004268:DNA-Binding Proteins; D050778:NFATC Transcription Factors; D022821:RNA Splice Sites; D014157:Transcription Factors