Department of Molecular Pharmacology, Albert Einstein College of Medicine, Bronx, NY 10461, USA.
Proc Natl Acad Sci U S A. 2011 Nov 1;108(44):17933-8. doi: 10.1073/pnas.1108278108. Epub 2011 Oct 19.
I(-) uptake in the thyroid, the first step in thyroid hormone biosynthesis, is mediated by the Na(+)/I(-) symporter (NIS) with an electrogenic 2Na(+):1I(-) stoichiometry. We have obtained mechanistic information on NIS by characterizing the congenital I(-) transport defect-causing NIS mutant G93R. This mutant is targeted to the plasma membrane but is inactive. Substitutions at position 93 show that the longer the side chain of the neutral residue at this position, the higher the K(m) for the anion substrates. Unlike WT NIS, which mediates symport of Na(+) and the environmental pollutant perchlorate electroneutrally, G93T/N/Q/E/D NIS, strikingly, do it electrogenically with a 21 stoichiometry. Furthermore, G93E/Q NIS discriminate between anion substrates, a discovery with potential clinical relevance. A 3D homology model of NIS based on the structure of the bacterial Na(+)/galactose transporter identifies G93 as a critical player in the mechanism of the transporter: the changes from an outwardly to an inwardly open conformation during the transport cycle use G93 as a pivot.
碘在甲状腺中的摄取是甲状腺激素生物合成的第一步,由钠/碘同向转运体(NIS)介导,其具有电中性的 2Na(+):1I(-)化学计量比。我们通过对导致先天性碘转运缺陷的 NIS 突变体 G93R 的特性进行了分析,获得了关于 NIS 的机制信息。该突变体定位于质膜,但无活性。位置 93 的取代表明,该位置中性残基的侧链越长,阴离子底物的 K(m)值越高。与 WT NIS 介导 Na(+)和环境污染物高氯酸盐的电中性协同转运不同,G93T/N/Q/E/D NIS 以 21 的化学计量比进行电中性协同转运。此外,G93E/Q NIS 对阴离子底物具有区分能力,这一发现具有潜在的临床意义。基于细菌 Na(+)/半乳糖转运体结构的 NIS 三维同源模型确定 G93 是转运体机制中的关键参与者:在转运周期中,从外向开放构象到内向开放构象的转变使用 G93 作为枢轴。