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澳洲坚果基因组(HAES 741)的染色体级别的组装与注释。

Chromosome-Scale Assembly and Annotation of the Macadamia Genome ( HAES 741).

机构信息

Southern Cross Plant Science, Southern Cross University, Lismore NSW 2480, Australia

Southern Cross Plant Science, Southern Cross University, Lismore NSW 2480, Australia.

出版信息

G3 (Bethesda). 2020 Oct 5;10(10):3497-3504. doi: 10.1534/g3.120.401326.

Abstract

is a representative of the large basal eudicot family Proteaceae and the main progenitor species of the Australian native nut crop macadamia. Since its commercialisation in Hawaii fewer than 100 years ago, global production has expanded rapidly. However, genomic resources are limited in comparison to other horticultural crops. The first draft assembly of had good coverage of the functional gene space but its high fragmentation has restricted its use in comparative genomics and association studies. Here we have generated an improved assembly of cultivar HAES 741 (4,094 scaffolds, 745 Mb, N50 413 kb) using a combination of Illumina paired and PacBio long read sequences. Scaffolds were anchored to 14 pseudo-chromosomes using seven genetic linkage maps. This assembly has improved contiguity and coverage, with >120 Gb of additional sequence. Following annotation, 34,274 protein-coding genes were predicted, representing 90% of the expected gene content. Our results indicate that the macadamia genome is repetitive and heterozygous. The total repeat content was 55% and genome-wide heterozygosity, estimated by read mapping, was 0.98% or an average of one SNP per 102 bp. This is the first chromosome-scale genome assembly for macadamia and the Proteaceae. It is expected to be a valuable resource for breeding, gene discovery, conservation and evolutionary genomics.

摘要

是大型基底真双子叶植物科金虎尾科的代表物种,也是澳大利亚本土坚果作物澳洲坚果的主要祖先生物种。自不到 100 年前在夏威夷商业化种植以来,全球产量迅速增长。然而,与其他园艺作物相比,基因组资源有限。第一个 的草案组装具有很好的功能基因空间覆盖度,但由于其高度碎片化,限制了其在比较基因组学和关联研究中的应用。在这里,我们使用 Illumina 配对和 PacBio 长读序列的组合生成了栽培品种 HAES 741 的改良组装(4094 个支架,745Mb,N50 413kb)。使用七个遗传连锁图谱将支架锚定到 14 个假染色体上。该组装提高了连续性和覆盖度,增加了超过 120GB 的额外序列。在注释之后,预测了 34274 个编码蛋白质的基因,占预期基因含量的 90%。我们的结果表明,澳洲坚果基因组是重复的和杂合的。总重复含量为 55%,通过读取映射估计的全基因组杂合率为 0.98%,即平均每 102bp 有一个 SNP。这是澳洲坚果和金虎尾科的第一个染色体规模的基因组组装。预计它将成为育种、基因发现、保护和进化基因组学的宝贵资源。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fc71/7534425/6b4bc76ee3e5/3497f1.jpg

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