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Dyslexia risk variant rs600753 is linked with dyslexia-specific differential allelic expression of DYX1C1
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Müller, Bent, Boltze, Johannes, Czepezauer, Ivonne, Hesse, Volker, Wilcke, Arndt and Kirsten, Holger (2018) Dyslexia risk variant rs600753 is linked with dyslexia-specific differential allelic expression of DYX1C1. Genetics and Molecular Biology, 41 (1). pp. 41-49. doi:10.1590/1678-4685-gmb-2017-0165 ISSN 1415-4757.
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WRAP-dyslexia-risk variant-rs600753-linked-dyslexia-specific-differential-allelic-expression-DYX1C1-Boltze-2018.pdf - Published Version - Requires a PDF viewer. Available under License Creative Commons Attribution 4.0. Download (1690Kb) | Preview |
Official URL: http://dx.doi.org/10.1590/1678-4685-gmb-2017-0165
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.
| Item Type: | Journal Article | |||||||||
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| Subjects: | R Medicine > RC Internal medicine > RC0321 Neuroscience. Biological psychiatry. Neuropsychiatry | |||||||||
| Divisions: | Faculty of Science, Engineering and Medicine > Science > Life Sciences (2010- ) | |||||||||
| Library of Congress Subject Headings (LCSH): | Dyslexia -- Genetic aspects | |||||||||
| Journal or Publication Title: | Genetics and Molecular Biology | |||||||||
| Publisher: | Sociedade Brasileira de Genética | |||||||||
| ISSN: | 1415-4757 | |||||||||
| Official Date: | 19 February 2018 | |||||||||
| Dates: |
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| Volume: | 41 | |||||||||
| Number: | 1 | |||||||||
| Page Range: | pp. 41-49 | |||||||||
| DOI: | 10.1590/1678-4685-gmb-2017-0165 | |||||||||
| Status: | Peer Reviewed | |||||||||
| Publication Status: | Published | |||||||||
| Access rights to Published version: | Open Access (Creative Commons) | |||||||||
| Date of first compliant deposit: | 23 May 2019 | |||||||||
| Date of first compliant Open Access: | 23 May 2019 | |||||||||
| RIOXX Funder/Project Grant: |
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