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The dopamine D2 receptor has been extensively studied in relation to alcoholism, substance abuse, and nicotine dependence. The most frequently examined polymorphism linked to this gene is the Taq1A restriction fragment length polymorphism (RFLP) (dbSNP rs1800497; g.32806C>T in GenBank AF050737.1), which has been associated with a reduction in D2 receptor density, although this is not universally accepted. The Taq1A RFLP lies 10 kB downstream of DRD2 and may therefore fall within a different coding region than the DRD2 gene or within a regulatory region. Within this downstream region, we have identified a novel kinase gene, named ankyrin repeat and kinase domain containing 1 (ANKK1), which contains a single serine/threonine kinase domain and is expressed at low levels in placenta and whole spinal cord RNA. This gene is a member of an extensive family of proteins involved in signal transduction pathways. The DRD2 Taq1A RFLP is a single nucleotide polymorphism (SNP) that causes an amino acid substitution within the 11th ankyrin repeat of ANKK1 (p.Glu713Lys), which, while unlikely to affect structural integrity, may affect substrate-binding specificity. If this is the case, then changes in ANKK1 activity may provide an alternative explanation for previously described associations between the DRD2 Taq1A RFLP and neuropsychiatric disorders such as addiction.

Original publication

DOI

10.1002/humu.20039

Type

Journal article

Journal

Hum Mutat

Publication Date

06/2004

Volume

23

Pages

540 - 545

Keywords

Amino Acid Sequence, Behavior, Addictive, Chromosome Mapping, Chromosomes, Human, Pair 11, Genetic Linkage, Humans, Molecular Sequence Data, Polymorphism, Restriction Fragment Length, Polymorphism, Single Nucleotide, Protein-Serine-Threonine Kinases, Receptors, Dopamine D2, Reverse Transcriptase Polymerase Chain Reaction