Molecular characterization of FOXP2 in neurodevelopment and disorder
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2015-07-01
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en
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Abstract
FOXP2 was the first gene to be implicated in language. Although several mutations have been reported in this gene in patients with language and other neurodevelopmental disorders, only a few of these have been functionally characterized. Here, we report the first characterization the N597H, Q390VfsX5 and P416T mutations, in addition to further characterizing the R553H, Q17L, R328X and M406T mutations. We show that the Q390VfsX5 mutation has a severe effect on protein function, supporting the pathological role of this mutation. In addition, we find that the N597H mutation retains functional properties of wild-type FOXP2, suggesting that this mutation does not underlie the patient phenotype as has been suggested. We also investigated the molecular consequences of human-specific amino acid changes in FOXP2 and provide novel molecular characterization on FOXP2 isoforms and paralogs.
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Faculteit der Sociale Wetenschappen