Ontology highlight
ABSTRACT:
SUBMITTER: Spieler D
PROVIDER: S-EPMC3975059 | biostudies-literature | 2014 Apr
REPOSITORIES: biostudies-literature
Genome research 20140318 4
Genome-wide association studies (GWAS) identified the MEIS1 locus for Restless Legs Syndrome (RLS), but causal single nucleotide polymorphisms (SNPs) and their functional relevance remain unknown. This locus contains a large number of highly conserved noncoding regions (HCNRs) potentially functioning as cis-regulatory modules. We analyzed these HCNRs for allele-dependent enhancer activity in zebrafish and mice and found that the risk allele of the lead SNP rs12469063 reduces enhancer activity in ...[more]