Cis-acting regulation of brain-specific ANK3 gene expression by a genetic variant associated with bipolar disorder.

ABSTRACT: Several genome-wide association studies for bipolar disorder (BD) have found a strong association of the Ankyrin 3 (ANK3) gene. This association spans numerous linked single-nucleotide polymorphisms (SNPs) in an ~250-kb genomic region overlapping ANK3. The associated region encompasses predicted regulatory elements as well as two of the six validated alternative first exons, which encode distinct protein domains at the N-terminus of the protein also known as Ankyrin-G. Using RNA ligase-mediated rapid amplification of cDNA ends to identify novel transcripts in conjunction with a highly sensitive, exon-specific multiplexed mRNA expression assay, we detected differential regulation of distinct ANK3 transcription start sites and coupling of specific 5' ends with 3' mRNA splicing events in post

SUBMITTER: Rueckert EH 

PROVIDER: S-EPMC3856665 | biostudies-literature | 2013 Aug

REPOSITORIES: biostudies-literature