Intracellular distribution of a speech/language disorder associated FOXP2 mutant
作者： Akifumi Mizutani , Ayumi Matsuzaki , Mariko Y. Momoi , Eriko Fujita , Yuko Tanabe
DOI: 10.1016/J.BBRC.2006.12.130
关键词:
摘要: Although a mutation (R553H) in the forkhead box (FOX)P2 gene is associated with speech/language disorder, little known about function of FOXP2 or its relevance to this disorder. In present study, we identify nuclear localization domains that contribute cellular distribution FOXP2. Nuclear depended on two distally separated signals domain. A truncated version lacking leu-zip, Zn2+ finger, and was observed another patient speech abnormalities demonstrated an aggregated cytoplasmic localization. Furthermore, mainly exhibited despite retaining interactions transport proteins (importin alpha beta). Interestingly, wild type promoted into nucleus. Mutant heterodimers nucleus R553H cytoplasm may underlie pathogenesis autosomal dominant
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