Dolichols (Dols), ubiquitous components of living organisms, are indispensable for cell survival. In plants, as well as other eukaryotes, Dols are crucial for posttranslational protein glycosylation, aberration of which leads to fatal metabolic disorders in humans. Until now, the regulatory mechanisms underlying Dol accumulation remain elusive. In this report, we have analyzed the natural variation of the accumulation of Dols and six other isoprenoids between 120 Arabidopsis thaliana accessions. Subsequently, by combining QTL and GWAS approaches, we have identified several candidate genes involved in the accumulation of Dols, polyprenols, plastoquinone, and phytosterols. The role of two genes implicated in the accumulation of major Dols in Arabidopsis – the AT2G17570 gene encoding a long searched for cis-prenyltransferase (CPT3) and the AT1G52460 gene encoding an alpha-beta hydrolase (ABH) – is experimentally confirmed. These data will help to generate Dol-enriched plants which might serve as a remedy for Dol-deficiency in humans.

中文翻译：

---

GWAS分析与QTL定位相结合，鉴定出CPT3和ABH是拟南芥中白藜芦醇积累的基础基因

生命有机体普遍存在的二元醇（Dollhols）对于细胞存活是必不可少的。在植物以及其他真核生物中，杜尔斯对翻译后蛋白质糖基化至关重要，其异常会导致人类致命的代谢紊乱。到目前为止，Dol积累的调控机制仍然难以捉摸。在本报告中，我们分析了120个拟南芥种之间Doll和其他六个类异戊二烯积累的自然变化。随后，通过结合QTL和GWAS方法，我们确定了几个参与Doll，聚戊二烯醇，质体醌和植物甾醇积累的候选基因。牵涉拟南芥中主要Dols积累的两个基因的作用-编码长期搜寻的AT2G17570基因实验证实了顺式异戊二烯基转移酶（CPT3）和编码α-β水解酶（ABH）的AT1G52460基因。这些数据将有助于产生富含Dol的植物，这些植物可以作为人类Dol缺乏症的一种补救方法。