Yanai Anat, Huang Kun, Kang Rujun, Singaraja Roshni R, Arstikaitis Pamela, Gan Lu, Orban Paul C, Mullard Asher, Cowan Catherine M, Raymond Lynn A, Drisdel Renaldo C, Green William N, Ravikumar Brinda, Rubinsztein David C, El-Husseini Alaa, Hayden Michael R
Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, British Columbia V5Z 4H4, Canada.
Nat Neurosci. 2006 Jun;9(6):824-31. doi: 10.1038/nn1702. Epub 2006 May 14.
Post-translational modification by the lipid palmitate is crucial for the correct targeting and function of many proteins. Here we show that huntingtin (htt) is normally palmitoylated at cysteine 214, which is essential for its trafficking and function. The palmitoylation and distribution of htt are regulated by the palmitoyl transferase huntingtin interacting protein 14 (HIP14). Expansion of the polyglutamine tract of htt, which causes Huntington disease, results in reduced interaction between mutant htt and HIP14 and consequently in a marked reduction in palmitoylation. Mutation of the palmitoylation site of htt, making it palmitoylation resistant, accelerates inclusion formation and increases neuronal toxicity. Downregulation of HIP14 in mouse neurons expressing wild-type and mutant htt increases inclusion formation, whereas overexpression of HIP14 substantially reduces inclusions. These results suggest that the expansion of the polyglutamine tract in htt results in decreased palmitoylation, which contributes to the formation of inclusion bodies and enhanced neuronal toxicity.
脂质棕榈酸酯介导的翻译后修饰对于许多蛋白质的正确靶向定位和功能至关重要。在此我们表明,亨廷顿蛋白(htt)通常在半胱氨酸214位点发生棕榈酰化,这对其运输和功能至关重要。htt的棕榈酰化和分布受棕榈酰转移酶亨廷顿相互作用蛋白14(HIP14)调控。导致亨廷顿病的htt聚谷氨酰胺序列的扩展,会导致突变型htt与HIP14之间的相互作用减少,从而导致棕榈酰化显著降低。htt棕榈酰化位点的突变使其具有抗棕榈酰化能力,加速了包涵体的形成并增加了神经元毒性。在表达野生型和突变型htt的小鼠神经元中下调HIP14会增加包涵体的形成,而HIP14的过表达则会显著减少包涵体。这些结果表明,htt中聚谷氨酰胺序列的扩展导致棕榈酰化减少,这有助于包涵体的形成并增强神经元毒性。