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. Copyright (C) 2000 Elsevier Science B.V.
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- Querschnittsbereich: Medizinische Genetik