Data/hora: 14/06/2024 02:29:08

Provedor de dados: | 74
País: | Brazil
Título: | Dyslexia risk variant rs600753 is linked with dyslexia-specific differential allelic expression of DYX1C1
Autores: | Müller,Bent; Boltze,Johannes; Czepezauer,Ivonne; Hesse,Volker; Wilcke,Arndt; Kirsten,Holger.
Data: | 2018-03-01
Ano: | 2018
Palavras-chave: | Dyslexia; SNP; EQTL; Differential allelic expression.
Resumo: | 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.
Tipo: | Info:eu-repo/semantics/article
Idioma: | Inglês
Identificador: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000100041
Editor: | Sociedade Brasileira de Genética
Relação: | 10.1590/1678-4685-gmb-2017-0165
Formato: | text/html
Fonte: | Genetics and Molecular Biology  v.41 n.1 2018
Fonte: | info:eu-repo/semantics/openAccess