DOPAMINE TRANSPORTER-HUMAN & MOUSE GENES, DOPAMINERGIC DISORDERS & KNOCKO

可卡因的奖励/强化作用有 被认为至少部分是通过阻止再摄取而产生的 多巴胺转运体(DAT)对多巴胺的作用。这就是网站 它积累了每一种产生多巴胺选择性毒素的 目前最好的帕金森氏病实验模型。这个 DAT基因在腹侧多巴胺能神经元中表达 中脑，是目前唯一可用的标记物 几乎完全由这些细胞表达。在本财年，我们 完成了人类DAT基因的测序，每个 其编码和几个内含子区域的多态，以及 研究了这些多态在人群中的分布 有药物滥用、多动症、抽动症和其他几种 表型。我们还完成了链接模式的绘制 不平衡横跨这一轨迹。没有清晰的编码区 鉴定了与疾病相关的蛋白变体。然而，继续 加强3‘非翻译区之间的联系 多项研究中的VNTR标记和ADHD激发了人们对 这个有趣的基因座上的调控区多态。

The rewarding/reinforcing effects of cocaine have been thought to be produced, at least in part, by blocking reuptake of dopamine by the dopamine transporter (DAT). This is the site that accumulates each of the dopamine selective toxins that produce the best current experimental models for Parkinson's disease. The DAT gene is expressed in dopaminergic neurons of the ventral midbrain, and serves as the only currently-available marker expressed almost exclusively by these cells. During this FY, we completed sequencing of the human DAT gene, characterized each of the polymorphisms in its coding and several intronic regions, and examined the distributions of these polymorphisms in populations with drug abuse, ADHD, Tourette's syndrome, and several other phenotypes. We also completed mapping the patterns of linkage disequilibrium accross this locus. No clear coding region disease-related protein variant was identified. However, continued strengthening of association between the 3' untranslated region VNTR marker and ADHD in several studies spurs interest in regulatory region polymorphisms at this interesting locus.