| Revista: | Genetics and molecular biology |
| Base de datos: | PERIÓDICA |
| Número de sistema: | 000417830 |
| ISSN: | 1415-4757 |
| Autores: | Müller, Bent1 Boltze, Johannes2 Czepezauer, Ivonne1 Hesse, Volker3 Wilcke, Arndt1 Kirsten, Holger4 |
| Instituciones: | 1Fraunhofer Institute for Cell Therapy and Immunology, Leipzig. Alemania 2Fraunhofer Research Institution for Marine Biotechnology, Department of Medical Cell Technology, Lubeck, Schleswig-Holstein. Alemania 3German Center for Growth, Development and Health Encouragement in Childhood and Adolescence, Berlín. Alemania 4University of Leipzig, Institute for Medical Informatics, Statistics and Epidemiology, Leipzig. Alemania |
| Año: | 2018 |
| Periodo: | Mar |
| Volumen: | 41 |
| Número: | 1 |
| Paginación: | 41-49 |
| País: | Brasil |
| Idioma: | Inglés |
| Tipo de documento: | Artículo |
| Enfoque: | Caso clínico, analítico |
| Resumen en inglés | 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 |
| Disciplinas: | Biología, Psicología, Medicina |
| Palabras clave: | Biología celular, Genética, Neurología, Dislexia, SNP, eQTL, Expresión alélica diferencial |
| Keyword: | Cell biology, Genetics, Neurology, Dyslexia, SNP, eQTL, Differential allelic expression |
| Texto completo: | Texto completo (Ver PDF) |
