研究揭示结构变异对番茄基因表达和作物改良的影响 作者： 发布时间：/6/18 22:07:06 近日，美国冷泉港实验室Zachary B. Lippman和约翰 霍普金斯大学Michael C. Schatz小组合作，揭示了广泛结构变异（SV）对番茄基因表达和作物改良的主要影响。 这一研究成果于6月17日在线发表在《细胞》上。
研究人员使用长读纳米孔测序技术对100种不同番茄品系中238,490个SV进行了探究。该panSV基因组连同14个新的参考程序集，揭示了各种基因型的大规模混合以及成千上万个与基因和顺式调控区相交的SV。数百个SV基因对表现出微妙而显著的表达变化，可能广泛影响数量性状的变异。
通过将定量遗传学与基因组编辑相结合的方法，研究人员揭示了多种SV基因剂量和表达水平的改变是如何改变果实的风味、大小和产量。在最后一个示例中，影响三个相关转录因子的四个SV中，具有较高上位性的SV允许在现代番茄中引入重要的产量性状。该研究揭示了SV在基因型与表型关系中尚未探索的作用，以及它们在作物改良中的重要性和实用性。
据介绍，SV是作物改良和性状驯化的重要基础。但是，揭示SV的范围、多样性和定量影响一直是一项挑战。
附：英文原文
Title: Major Impacts of Widespread Structural Variation on Gene Expression and Crop Improvement in Tomato
Author: Michael Alonge, Xingang Wang, Matthias Benoit, Sebastian Soyk, Lara Pereira, Lei Zhang, Hamsini Suresh, Srividya Ramakrishnan, Florian Maumus, Danielle Ciren, Yuval Levy, Tom Hai Harel, Gili Shalev-Schlosser, Ziva Amsellem, Hamid Razifard, Ana L. Caicedo, Denise M. Tieman, Harry Klee, Melanie Kirsche, Sergey Aganezov, T. Rhyker Ranallo-Benavidez, Zachary H. Lemmon, Jennifer Kim, Gina Robitaille, Melissa Kramer, Sara Goodwin, W. Richard McCombie, Samuel Hutton, Joyce Van Eck, Jesse Gillis, Yuval Eshed, Fritz J. Sedlazeck, Esther van der Knaap, Michael C. Schatz, Zachary B. Lippman
Issue Volume: -06-17
Abstract: Structural variants (SVs) underlie important crop improvement and domestication traits.However, resolving the extent, diversity, and quantitative impact of SVs has beenchallenging. We used long-read nanopore sequencing to capture 238,490 SVs in 100 diversetomato lines. This panSV genome, along with 14 new reference assemblies, revealedlarge-scale intermixing of diverse genotypes, as well as thousands of SVs intersectinggenes and cis-regulatory regions. Hundreds of SV-gene pairs exhibit subtle and significant expressionchanges, which could broadly influence quantitative trait variation. By combiningquantitative genetics with genome editing, we show how multiple SVs that changed genedosage and expression levels modified fruit flavor, size, and production. In the lastexample, higher order epistasis among four SVs affecting three related transcriptionfactors allowed introduction of an important harvesting trait in modern tomato. Ourfindings highlight the underexplored role of SVs in genotype-to-phenotype relationshipsand their widespread importance and utility in crop improvement.
DOI: 10.1016/j.cell..05.021
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期刊信息 Cell：《细胞》，创刊于1974年。隶属于细胞出版社，最新IF：36.216官方网址：投稿链接：
