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利用分阶段二倍体基因组对萜烯合酶家族进行种内比较基因组学研究,以探索基因型变异的影响。

Comparative (Within Species) Genomics of the L. Terpene Synthase Family to Explore the Impact of Genotypic Variation Using Phased Diploid Genomes.

作者信息

Smit Samuel Jacobus, Vivier Melané Alethea, Young Philip Richard

机构信息

South African Grape and Wine Research Institute, Department of Viticulture and Oenology, Stellenbosch University, Stellenbosch, South Africa.

出版信息

Front Genet. 2020 May 5;11:421. doi: 10.3389/fgene.2020.00421. eCollection 2020.

Abstract

The L. terpene synthase () family was comprehensively annotated on the phased diploid genomes of three closely related cultivars: Cabernet Sauvignon, Carménère and Chardonnay. gene regions were grouped to chromosomes, with the haplotig assemblies used to identify allelic variants. Functional predictions of the subfamilies were performed using enzyme active site phylogenies resulting in the putative identification of the initial substrate and cyclization mechanism of VviTPS enzymes. Subsequent groupings into conserved catalytic mechanisms was coupled with an analysis of cultivar-specific gene duplications, resulting in the identification of conserved and unique clusters. These findings are presented as a collection of interactive networks where any of interest can be queried through BLAST, allowing for a rapid identification of -subfamily, enzyme mechanism and degree of connectivity (i.e., extent of duplication). The comparative genomic analyses presented expands our understanding of the family and provides numerous new gene models from three diploid genomes.

摘要

在三个亲缘关系密切的品种(赤霞珠、佳美娜和霞多丽)的阶段性二倍体基因组上对萜类合酶(L. terpene synthase,VviTPS)家族进行了全面注释。VviTPS基因区域被定位到染色体上,利用单倍型组装来鉴定等位基因变体。使用酶活性位点系统发育对VviTPS亚家族进行功能预测,从而初步推测出VviTPS酶的初始底物和环化机制。随后,根据保守的催化机制进行分组,并结合对品种特异性基因重复的分析,鉴定出保守和独特的VviTPS簇。这些研究结果以交互式网络的形式呈现,通过BLAST可以查询任何感兴趣的VviTPS,从而快速鉴定VviTPS亚家族、酶机制和连接程度(即重复程度)。本文所呈现的比较基因组分析扩展了我们对VviTPS家族的理解,并从三个二倍体基因组中提供了许多新的基因模型。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5675/7216305/46acdf611f0d/fgene-11-00421-g001.jpg

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