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

SUBMITTER: Powers NR 

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

REPOSITORIES: biostudies-literature