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Dyslexia risk variant rs600753 is linked with dyslexia-specific differential allelic expression of DYX1C1

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Friederici,  Angela D.
Department Neuropsychology, MPI for Human Cognitive and Brain Sciences, Max Planck Society;

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Neef,  Nicole
Department Neuropsychology, MPI for Human Cognitive and Brain Sciences, Max Planck Society;

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Skeide,  Michael A.
Department Neuropsychology, MPI for Human Cognitive and Brain Sciences, Max Planck Society;

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Schaadt,  Gesa
Department Neuropsychology, MPI for Human Cognitive and Brain Sciences, Max Planck Society;

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Kraft,  Indra
Department Neuropsychology, MPI for Human Cognitive and Brain Sciences, Max Planck Society;

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Dörr,  Liane
Max Planck Research Group Neural Mechanisms of Human Communication, MPI for Human Cognitive and Brain Sciences, Max Planck Society;

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Citation

Müller, B., Boltze, J., Czepezauer, I., Hesse, V., LEGASCREEN Consortium, Friederici, A. D., et al. (2018). Dyslexia risk variant rs600753 is linked with dyslexia-specific differential allelic expression of DYX1C1. Genetics and Molecular Biology, 41(1), 41-49. doi:10.1590/1678-4685-GMB-2017-0165.


Cite as: http://hdl.handle.net/21.11116/0000-0004-DABA-5
Abstract
An increasing number of genetic variants involved in dyslexia development were discovered during the last years, yet little is known about the molecular functional mechanisms of these SNPs. In this study we investigated whether dyslexia candidate SNPs have a direct, disease-specific effect on local expression levels of the assumed target gene by using a differential allelic expression assay. In total, 12 SNPs previously associated with dyslexia and related phenotypes were suitable for analysis. Transcripts corresponding to four SNPs were sufficiently expressed in 28 cell lines originating from controls and a family affected by dyslexia. We observed a significant effect of rs600753 on expression levels of DYX1C1 in forward and reverse sequencing approaches. The expression level of the rs600753 risk allele was increased in the respective seven cell lines from members of the dyslexia family which might be due to a disturbed transcription factor binding sites. When considering our results in the context of neuroanatomical dyslexia-specific findings, we speculate that this mechanism may be part of the pathomechanisms underlying the dyslexia-specific brain phenotype. Our results suggest that allele-specific DYX1C1 expression levels depend on genetic variants of rs600753 and contribute to dyslexia. However, these results are preliminary and need replication