Multiple regulatory variants modulate expression of 5-hydroxytryptamine 2A receptors in human cortex.

ABSTRACT:

Background

The 5-hydroxytryptamine 2A receptor, encoded by HTR2A, is a major postsynaptic target for serotonin in the human brain and a therapeutic drug target. Despite hundreds of genetic associations investigating HTR2A polymorphisms in neuropsychiatric disorders and therapies, the role of genetic HTR2A variability in health and disease remains uncertain.

Methods

To discover and characterize regulatory HTR2A variants, we sequenced whole transcriptomes from 10 human brain regions with massively parallel RNA sequencing and measured allelic expression of multiple HTR2A messenger (m)RNA transcript variants. Following discovery of functional variants, we further characterized their impact on genetic expression in vitro.

Results

Three polymorphisms modulate the use of nov

SUBMITTER: Smith RM 

PROVIDER: S-EPMC3582836 | biostudies-literature | 2013 Mar

REPOSITORIES: biostudies-literature