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外显子捕获和测序的高可信度 SNP 注释目录揭示了挪威云杉(Picea abies)中高度多态的基因。

A catalog of annotated high-confidence SNPs from exome capture and sequencing reveals highly polymorphic genes in Norway spruce (Picea abies).

机构信息

Canada Research Chair in Forest Genomics, Forest Research Centre, Université Laval, Québec, Québec, G1V 0A6, Canada.

Institute of Integrative Biology and Systems, Université Laval, Québec, Québec, G1V 0A6, Canada.

出版信息

BMC Genomics. 2018 Dec 17;19(1):942. doi: 10.1186/s12864-018-5247-z.

Abstract

BACKGROUND

Norway spruce [Picea abies (L.) Karst.] is ecologically and economically one of the most important conifer worldwide. Our main goal was to develop a large catalog of annotated high confidence gene SNPs that should sustain the development of genomic tools for the conservation of natural and domesticated genetic diversity resources, and hasten tree breeding efforts in this species.

RESULTS

Targeted sequencing was achieved by capturing P. abies exome with probes previously designed from the sequenced transcriptome of white spruce (Picea glauca (Moench) Voss). Capture efficiency was high (74.5%) given a high level of exome conservation between the two species. Using stringent criteria, we delimited a set of 61,771 high-confidence SNPs across 13,543 genes. To validate SNPs, a high-throughput genotyping array was developed for a subset of 5571 predicted SNPs representing as many different gene loci, and was used to genotype over 1000 trees. The estimated true positive rate of the resource was 84.2%, which was comparable with the genotyping success rate obtained for P. abies control SNPs recycled from previous genotyping efforts. We also analyzed SNP abundance across various gene functional categories. Several GO terms and gene families involved in stress response were found over-represented in highly polymorphic genes.

CONCLUSION

The annotated high-confidence SNP catalog developed herein represents a valuable genomic resource, being representative of over 13 K genes distributed across the P. abies genome. This resource should serve a variety of population genomics and breeding applications in Norway spruce.

摘要

背景

挪威云杉(Picea abies (L.) Karst.)在生态学和经济学上是全球最重要的针叶树之一。我们的主要目标是开发一个包含大量注释的高置信度基因 SNP 目录,以支持保护自然和驯化遗传多样性资源的基因组工具的开发,并加速该物种的树木育种工作。

结果

通过使用先前从白云杉(Picea glauca (Moench) Voss)转录组测序设计的探针来捕获云杉外显子,实现了靶向测序。考虑到两个物种的外显子高度保守,捕获效率很高(74.5%)。使用严格的标准,我们在 13543 个基因中确定了 61771 个高置信度 SNP。为了验证 SNP,我们开发了一个用于 5571 个预测 SNP 的高通量基因分型阵列,这些 SNP 代表了尽可能多的不同基因座,并用于对 1000 多棵树进行基因分型。该资源的估计真阳性率为 84.2%,与之前基因分型工作中回收的云杉控制 SNP 的基因分型成功率相当。我们还分析了各种基因功能类别中的 SNP 丰度。在高度多态性基因中发现了许多涉及应激反应的 GO 术语和基因家族。

结论

本文开发的注释高可信度 SNP 目录是一个有价值的基因组资源,代表了分布在云杉基因组中的 13000 多个基因。该资源应服务于挪威云杉的各种群体基因组学和育种应用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/39ee/6296092/b654b9d63867/12864_2018_5247_Fig1_HTML.jpg

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