Data/hora: 09/06/2024 18:20:49

Provedor de dados: 	Genetics and Molecular Biology	
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