ArticleFASEB journal : official publication of the Federation of American Societies for Experimental Biology2008
The complex of TFII-I, PARP1, and SFPQ proteins regulates the DYX1C1 gene implicated in neuronal migration and dyslexia.
Article in FASEB journal : official publication of the Federation of American Societies for Experimental Biology, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers, 1 of them a synthesis that pooled it.
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Who cites it
44 citing papers in PubMed, 1 synthesis or guideline pooled it, 69 citations in OpenAlex.
- A family-based association analysis and meta-analysis of the reading disabilities candidate gene DYX1C1.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2013Pooled it
- Genetic Modifications of Developmental Dyslexia and Its Representation Using In Vivo, In Vitro Model.Global medical genetics · 2024Review
- Identification of a novel splice site mutation in the DNAAF4 gene of a Chinese patient with primary ciliary dyskinesia.Asian journal of andrology · 2023Article
- Genetic and protein interaction studies between the ciliary dyslexia candidate genes DYX1C1 and DCDC2.BMC molecular and cell biology · 2023Article
- Case Report:Frontiers in genetics · 2022Article
- hReg-CNCC reconstructs a regulatory network in human cranial neural crest cells and annotates variants in a developmental context.Communications biology · 2021Article
- A Pilot Study on Early-Onset Schizophrenia Reveals the Implication of Wnt, Cadherin and Cholecystokinin Receptor Signaling in Its Pathophysiology.Frontiers in genetics · 2021Article
- Poly (ADP-Ribose) Polymerase 1 Regulates Cajal-Retzius Cell Development and Neural Precursor Cell Adhesion.Frontiers in cell and developmental biology · 2021Article
- Ancestral Variations of the PCDHG Gene Cluster Predispose to Dyslexia in a Multiplex Family.EBioMedicine · 2018Article
- Differences in the NeanderthalHereditas · 2018Article
- Narrowing the Genetic Causes of Language Dysfunction in the 1q21.1 Microduplication Syndrome.Frontiers in pediatrics · 2018Article
- Patterns of biomarkers for three phenotype profiles of persisting specific learning disabilities during middle childhood and early adolescence: A preliminary study.Biomarkers and genes · 2017Article
- Non-nuclear Pool of Splicing Factor SFPQ Regulates Axonal Transcripts Required for Normal Motor Development.Neuron · 2017Article
- Genes, Gender, Environment, and Novel Functions of Estrogen Receptor Beta in the Susceptibility to Neurodevelopmental Disorders.Brain sciences · 2017Review
- Role of Splice Variants of Gtf2i, a Transcription Factor Localizing at Postsynaptic Sites, and Its Relation to Neuropsychiatric Diseases.International journal of molecular sciences · 2017Review
- Zika virus disrupts molecular fingerprinting of human neurospheres.Scientific reports · 2017Article
- Ciliary dyslexia candidate genes DYX1C1 and DCDC2 are regulated by Regulatory Factor X (RFX) transcription factors through X-box promoter motifs.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2016Article
- The DBHS proteins SFPQ, NONO and PSPC1: a multipurpose molecular scaffold.Nucleic acids research · 2016Article
- The RNA-binding protein SFPQ orchestrates an RNA regulon to promote axon viability.Nature neuroscience · 2016Article
- Cytoplasmic mislocalization of RNA splicing factors and aberrant neuronal gene splicing in TDP-43 transgenic pig brain.Molecular neurodegeneration · 2015Article
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 3 countries.
Funding
Abstract
DYX1C1 was first identified as a candidate gene for dyslexia susceptibility, and its role in controlling neuronal migration during embryogenesis and effect on learning in rodents have been verified. In contrast, genetic association studies have been ambiguous in replicating its effects on dyslexia. To better understand the regulation of DYX1C1 and the possible functional role of genetic variation in the promoter of DYX1C1, we selected three single-nucleotide polymorphisms (SNPs) with predicted functional consequences or suggested associations to dyslexia for detailed study. Electrophoretic mobility shift assays suggested the allele-specific binding of the transcription factors TFII-I (to rs3743205) and Sp1 (to rs16787 and rs12899331) that could be verified by competition assays. In addition, we purified a complex of protein factors binding to the previously suggested dyslexia-related SNP, -3G/A (rs3743205). Three proteins, TFII-I, PARP1, and SFPQ, were unambiguously identified by mass spectrometry and protein sequencing. Two SNPs, rs16787 and rs3743205, showed significant allelic differences in luciferase assays. Our results show that TFII-I, PARP1, and SFPQ proteins, each previously implicated in gene regulation, form a complex controlling transcription of DYX1C1. Furthermore, allelic differences in the promoter or 5' untranslated region of DYX1C1 may affect factor binding and thus regulation of the gene.
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