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The regulatory element READ1 epistatically influences reading and language, with both deleterious and protective alleles.

ABSTRACT: BACKGROUND:Reading disability (RD) and language impairment (LI) are heritable learning disabilities that obstruct acquisition and use of written and spoken language, respectively. We previously reported that two risk haplotypes, each in strong linkage disequilibrium (LD) with an allele of READ1, a polymorphic compound short tandem repeat within intron 2 of risk gene DCDC2, are associated with RD and LI. Additionally, we showed a non-additive genetic interaction between READ1 and KIAHap, a previously reported risk haplotype in risk gene KIAA0319, and that READ1 binds the transcriptional regulator ETV6. OBJECTIVE:To examine the hypothesis that READ1 is a transcriptional regulator of KIAA0319. METHODS:We characterised associations between READ1 alleles and RD and LI in a large European cohort, and also assessed interactions between READ1 and KIAHap and their effect on performance on measures of reading, language and IQ. We also used family-based data to characterise the genetic interaction, and chromatin conformation capture (3C) to investigate the possibility of a physical interaction between READ1 and KIAHap. RESULTS AND CONCLUSIONS:READ1 and KIAHap show interdependence--READ1 risk alleles synergise with KIAHap, whereas READ1 protective alleles act epistatically to negate the effects of KIAHap. The family data suggest that these variants interact in trans genetically, while the 3C results show that a region of DCDC2 containing READ1 interacts physically with the region upstream of KIAA0319. These data support a model in which READ1 regulates KIAA0319 expression through KIAHap and in which the additive effects of READ1 and KIAHap alleles are responsible for the trans genetic interaction.

SUBMITTER: Powers NR

PROVIDER: S-EPMC4789805 | biostudies-literature | 2016 Mar

REPOSITORIES: biostudies-literature

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The regulatory element READ1 epistatically influences reading and language, with both deleterious and protective alleles.

Powers Natalie R NR Eicher John D JD Miller Laura L LL Kong Yong Y Smith Shelley D SD Pennington Bruce F BF Willcutt Erik G EG Olson Richard K RK Ring Susan M SM Gruen Jeffrey R JR

Journal of medical genetics 20151211 3

<h4>Background</h4>Reading disability (RD) and language impairment (LI) are heritable learning disabilities that obstruct acquisition and use of written and spoken language, respectively. We previously reported that two risk haplotypes, each in strong linkage disequilibrium (LD) with an allele of READ1, a polymorphic compound short tandem repeat within intron 2 of risk gene DCDC2, are associated with RD and LI. Additionally, we showed a non-additive genetic interaction between READ1 and KIAHap, ...[more]

PMID: 26660103

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Project description:BackgroundThis article presents a detailed analysis of a dataset consisting of 27 elements found in soils, soil eluates, and vegetables from private gardens in a region with a long history of coal mining and burning. With coal being one of the world's most significant energy sources, and previous studies highlighting elevated element levels in vegetables from this region, the objective of this study was to identify the factors that impact soil geochemistry and metal(loid) uptake in plants.MethodsTotal major and trace element concentrations were analyzed in soils, soil eluates and vegetables by high resolution inductively coupled plasma mass spectrometry. The vegetable samples included six species: fennel, garlic, lettuce, parsley, onion, and radicchio. Each plant was divided into roots, stems, leaves, and/or bulbs and analyzed separately. In addition, the soil pollution status, bioavailable fractions and transfer factors from soil and soil eluates to different plant parts were determined.ResultsThe comprehensive dataset revealed that, apart from the substrate enriched with various elements (Al, As, Co, Cr, Mo, Ni, Pb, Sb, Sn, Ti, U, V, and Zn), other anthropogenic factors such as the legacy of coal mining and combustion activities, associated industries in the area, transport, and agricultural practices, also influence the elevated element concentrations (Cd, Cu, Fe, Mn, and Se) in locally grown vegetables. The transfer factors based on element concentrations in aqueous soil eluates and element bioavailable fractions confirmed to be an effective tool for evaluating metal uptake in plants, emphazising to some extent the effects of plant species and revealing unique patterns for each pollution source within its environmental context (e.g., Cd, Mo, S, and Se in this case). The study highlights the crucial importance of utilizing comprehensive datasets that encompass a multitude of factors when interpreting the impacts of element uptake in edible plants.

Dataset Information

The regulatory element READ1 epistatically influences reading and language, with both deleterious and protective alleles.

Publications

The regulatory element READ1 epistatically influences reading and language, with both deleterious and protective alleles.

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