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

Genetics and Molecular Biology
Bent MüllerHolger Kirsten

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 d...Continue Reading

References

Aug 1, 1985·Annals of Neurology·A M GalaburdaN Geschwind
Oct 29, 2005·PLoS Genetics·Katariina Hannula-JouppiJuha Kere
Dec 31, 2005·Nucleic Acids Research·V MatysE Wingender
Sep 18, 2007·Nature Genetics·Anna L DixonWilliam O C Cookson
Nov 6, 2007·Nature Genetics·Amanda J MyersJohn Hardy
May 1, 2008·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·Isabel Tapia-PáezJuha Kere
Oct 11, 2008·PLoS Genetics·Jean-Baptiste VeyrierasJonathan K Pritchard
Feb 25, 2009·Annals of Dyslexia·A WilckeP Ahnert
Feb 26, 2009·Psychiatric Genetics·Faten DahdouhMarco Zucchelli
Mar 28, 2009·PLoS Genetics·Megan Y DennisAnthony P Monaco
May 16, 2009·Science·Gwenael BadisMartha L Bulyk
Sep 18, 2010·Genes, Brain, and Behavior·S ParacchiniA J O Whitehouse
Dec 1, 2010·Molecular Psychiatry·S J FurneyUNKNOWN AddNeuroMed Consortium
Sep 29, 2011·PloS One·Weiliang QiuUNKNOWN ECLIPSE Investigators
Dec 16, 2011·Bioinformatics·Kai XiaFred A Wright
Jan 12, 2012·Proceedings of the National Academy of Sciences of the United States of America·Luis B BarreiroYoav Gilad
Jan 21, 2012·The Journal of Neuroscience : the Official Journal of the Society for Neuroscience·Satu LamminmäkiRiitta Hari
Jul 27, 2012·Translational Psychiatry·S KimM J Webster
Sep 8, 2012·Genome Research·Alan P BoyleMichael Snyder
Oct 12, 2012·Genetics and Molecular Biology·Jana BurkhardtPeter Ahnert
Oct 18, 2013·Dyslexia : the Journal of the British Dyslexia Association·Amaia Carrion-CastilloSimon E Fisher
Aug 28, 2014·Developmental Dynamics : an Official Publication of the American Association of Anatomists·Jonathon T HillH Joseph Yost
Sep 1, 2014·Nature Neuroscience·Adaikalavan RamasamyMichael E Weale
Apr 17, 2015·Journal of Human Genetics·Hans MatssonJuha Kere

❮ Previous
Next ❯

Methods Mentioned

BETA
genotyping
electrophoresis
PCR

Software Mentioned

LocusZoom
Google Scholar
RegulomeDB
Ensembl
sangerseqR
PubMED
R

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.

Related Papers

Hepatology Research : the Official Journal of the Japan Society of Hepatology
Marco CavalliClaes Wadelius
European Journal of Human Genetics : EJHG
Mari RossiIiris Hovatta
Biological Psychiatry
Joseph J LoTurco, Aarti Tarkar
© 2022 Meta ULC. All rights reserved