Novel splice variants increase molecular diversity of aprataxin, the gene responsible for early-onset ataxia with ocular motor apraxia and hypoalbuminemia.
Early-onset ataxia with ocular motor apraxia and hypoalbuminemia (EAOH) is one of the most common forms of autosomal recessive cerebellar ataxia. We identified six new alternative transcripts produced by the aprataxin gene responsible for EAOH. Total eight transcripts encoded truncated proteins that were located within the nucleus or cytoplasm and showed different binding abilities to wild-type (WT) aprataxin. Thus, the alternative splicing increases the molecular diversity of aprataxin and the expression profiles of these transcripts in various tissues may be related to the tissue-specific phenotypes.
Department of Neurology, Nara Medical University, 840 Shijo-cho, Kashihara, Nara 634-8522, Japan. hirano_makito@yahoo.com.jp
Makito
M
Hirano
Tomohisa
T
Nishiwaki
Shingo
S
Kariya
Yoshiko
Y
Furiya
Makoto
M
Kawahara
Satoshi
S
Ueno
D000328:Adult; D017668:Age of Onset; D017398:Alternative Splicing; D000818:Animals; D001072:Apraxias / Q000150:complications / Q000235:genetics*; D001259:Ataxia / Q000150:complications / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics* / Q000378:metabolism; D004587:Electrophoresis, Agar Gel; D005260:Female; D006801:Humans; D034141:Hypoalbuminemia / Q000150:complications / Q000235:genetics*; D008297:Male; D051379:Mice; D008969:Molecular Sequence Data; D041681:NIH 3T3 Cells; D009687:Nuclear Proteins / Q000235:genetics* / Q000378:metabolism; D015835:Ocular Motility Disorders / Q000150:complications / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction
C438188:APTX protein, human; D004268:DNA-Binding Proteins; D009687:Nuclear Proteins