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

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.

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Müller, Bent1, Author
Boltze, Johannes2, 3, Author
Czepezauer, Ivonne1, Author
Hesse, Volker4, 5, Author
LEGASCREEN Consortium, Author              
Friederici, Angela D.6, Author           
Emmrich, Frank , Author
Brauer, Jens, Author
Wilcke, Arndt , Author
Neef, Nicole6, Author           
Boltze, Johannes , Author
Skeide, Michael A.6, Author           
Kirsten, Holger, Author
Schaadt, Gesa6, Author           
Müller, Bent , Author
Kraft, Indra6, Author           
Czepezauer, Ivonne , Author
Dörr, Liane7, Author           
Wilcke, Arndt1, Author
Kirsten, Holger1, 8, 9, Author
1Fraunhofer Institute for Cell Therapy and Immunology, Leipzig, Germany, ou_persistent22              
2Department of Medical Cell Technology, Fraunhofer Institute for Marine Biotechnology, Lübeck, Germany, ou_persistent22              
3Institute for Medical and Marine Biotechnology, University of Lübeck, Germany, ou_persistent22              
4German Center for Growth, Development and Health Encouragement in Childhood and Adolescents, Berlin, Germany, ou_persistent22              
5Institute for Experimental Pediatric Endocrinology, Charité University Medicine Berlin, Germany, ou_persistent22              
6Department Neuropsychology, MPI for Human Cognitive and Brain Sciences, Max Planck Society, ou_634551              
7Max Planck Research Group Neural Mechanisms of Human Communication, MPI for Human Cognitive and Brain Sciences, Max Planck Society, ou_634556              
8Institute for Medical Informatics, Statistics and Epidemiology (IMISE), University of Leipzig, Germany, ou_persistent22              
9Leipzig Research Center for Civilization Diseases (LIFE), University of Leipzig, Germany, ou_persistent22              


Free keywords: Dyslexia; SNP; eQTL; Differential allelic expression
 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


Language(s): eng - English
 Dates: 2018-02-192018-01
 Publication Status: Published in print
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Type: Peer
 Identifiers: DOI: 10.1590/1678-4685-GMB-2017-0165
PMID: 29473935
PMC: PMC5901500
Other: Epub 2018
 Degree: -



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Title: Genetics and Molecular Biology
Source Genre: Journal
Publ. Info: Ribeirão Preto : SBG
Pages: - Volume / Issue: 41 (1) Sequence Number: - Start / End Page: 41 - 49 Identifier: ISSN: 1415-4757
CoNE: https://pure.mpg.de/cone/journals/resource/1415-4757