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利用单分子技术改进玉米参考基因组。

Improved maize reference genome with single-molecule technologies.

作者信息

Jiao Yinping, Peluso Paul, Shi Jinghua, Liang Tiffany, Stitzer Michelle C, Wang Bo, Campbell Michael S, Stein Joshua C, Wei Xuehong, Chin Chen-Shan, Guill Katherine, Regulski Michael, Kumari Sunita, Olson Andrew, Gent Jonathan, Schneider Kevin L, Wolfgruber Thomas K, May Michael R, Springer Nathan M, Antoniou Eric, McCombie W Richard, Presting Gernot G, McMullen Michael, Ross-Ibarra Jeffrey, Dawe R Kelly, Hastie Alex, Rank David R, Ware Doreen

机构信息

Cold Spring Harbor Laboratory, Cold Spring Harbor, New York 11724, USA.

Pacific Biosciences, Menlo Park, California 94025, USA.

出版信息

Nature. 2017 Jun 22;546(7659):524-527. doi: 10.1038/nature22971. Epub 2017 Jun 12.

Abstract

Complete and accurate reference genomes and annotations provide fundamental tools for characterization of genetic and functional variation. These resources facilitate the determination of biological processes and support translation of research findings into improved and sustainable agricultural technologies. Many reference genomes for crop plants have been generated over the past decade, but these genomes are often fragmented and missing complex repeat regions. Here we report the assembly and annotation of a reference genome of maize, a genetic and agricultural model species, using single-molecule real-time sequencing and high-resolution optical mapping. Relative to the previous reference genome, our assembly features a 52-fold increase in contig length and notable improvements in the assembly of intergenic spaces and centromeres. Characterization of the repetitive portion of the genome revealed more than 130,000 intact transposable elements, allowing us to identify transposable element lineage expansions that are unique to maize. Gene annotations were updated using 111,000 full-length transcripts obtained by single-molecule real-time sequencing. In addition, comparative optical mapping of two other inbred maize lines revealed a prevalence of deletions in regions of low gene density and maize lineage-specific genes.

摘要

完整且准确的参考基因组和注释为表征遗传变异和功能变异提供了基础工具。这些资源有助于确定生物过程,并支持将研究成果转化为改良的可持续农业技术。在过去十年中已经产生了许多作物的参考基因组,但这些基因组往往是碎片化的,并且缺少复杂的重复区域。在此,我们报告了利用单分子实时测序和高分辨率光学图谱对遗传和农业模式物种玉米的参考基因组进行的组装和注释。相对于之前的参考基因组,我们的组装结果显示重叠群长度增加了52倍,并且在基因间区域和着丝粒的组装方面有显著改进。对基因组重复部分的表征揭示了超过13万个完整的转座元件,这使我们能够识别玉米特有的转座元件谱系扩张。利用通过单分子实时测序获得的111,000个全长转录本对基因注释进行了更新。此外,对另外两个玉米自交系的比较光学图谱分析揭示了低基因密度区域和玉米谱系特异性基因中缺失现象的普遍性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8d3b/7052699/5059df4e7250/41586_2017_BFnature22971_Fig1_HTML.jpg

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