| First Author | Heils A | Year | 1996 |
| Journal | J Neurochem | Volume | 66 |
| Issue | 6 | Pages | 2621-4 |
| PubMed ID | 8632190 | Mgi Jnum | J:33973 |
| Mgi Id | MGI:81453 | Doi | 10.1046/j.1471-4159.1996.66062621.x |
| Citation | Heils A, et al. (1996) Allelic variation of human serotonin transporter gene expression. J Neurochem 66(6):2621-4 |
| abstractText | Mood, emotion, cognition, and motor functions as well as circadian and neuroendocrine rhythms, including food intake, sleep, and reproductive activity, are modulated by the midbrain raphe serotonin (5-HT) system. By directing the magnitude and duration of postsynaptic responses, carrier-facilitated 5-HT transport into and release from the presynaptic neuron are essential for the fine tuning of serotonergic neurotransmission. Interest in the mechanism of environmental factor-, disease-, and therapy-induced modification of 5-HT transporter (5-HTT) function and its impact on early brain development, event-related synaptic plasticity, and neurodegeneration is widespread and intensifying. We have recently characterized the human and murine 5-HTT genes and performed functional analyses of their 5'-flanking regulatory regions. A tandemly repeated sequence associated with the transcriptional apparatus of the human 5-HTT gene displays a complex secondary structure, represses promoter activity in nonserotonergic neuronal cells, and contains positive regulatory components. We now report a novel polymorphism of this repetitive element and provide evidence for allele-dependent differential 5-HTT promoter activity. Allelic variation in 5-HTT-related functions may play a role in the expression and modulation of complex traits and behavior. |
