Neuropsychiatric disease-associated genetic variants of the dopamine transporter display heterogeneous molecular phenotypes.

ABSTRACT: Genetic factors are known to significantly contribute to the etiology of psychiatric diseases such as attention deficit hyperactivity disorder (ADHD) and autism spectrum and bipolar disorders, but the underlying molecular processes remain largely elusive. The dopamine transporter (DAT) has received continuous attention as a potential risk factor for psychiatric disease, as it is critical for dopamine homeostasis and serves as principal target for ADHD medications. Constrain metrics for the DAT-encoding gene, solute carrier family 6 member 3 (SLC6A3), indicate that missense mutations are under strong negative selection, pointing to pathophysiological outcomes when DAT function is compromised. Here, we systematically characterized six rare genetic variants of DAT (I312F, T356M, D421N,

SUBMITTER: Herborg F 

PROVIDER: S-EPMC5950020 | biostudies-literature | 2018 May

REPOSITORIES: biostudies-literature