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成为四倍体还是不成为四倍体——标记倍性对马铃薯基因组预测和全基因组关联研究的影响。

To be or not to be tetraploid-the impact of marker ploidy on genomic prediction and GWAS of potato.

作者信息

Aalborg Trine, Nielsen Kåre Lehmann

机构信息

Department of Chemistry and Bioscience, Aalborg University, Aalborg, Denmark.

Research and Development, Kartoffelmelcentralen (KMC) Amba, Brande, Denmark.

出版信息

Front Plant Sci. 2024 Jul 30;15:1386837. doi: 10.3389/fpls.2024.1386837. eCollection 2024.

Abstract

Cultivated potato, ., is considered an autotetraploid with 12 chromosomes with four homologous phases. However, recent evidence found that, due to frequent large phase deletions in the genome, gene ploidy is not constant across the genome. The elite cultivar "Otava" was found to have an average gene copy number of 3.2 across all loci. Breeding programs for elite potato cultivars rely increasingly on genomic prediction tools for selection breeding and elucidation of quantitative trait loci underpinning trait genetic variance. These are typically based on anonymous single nucleotide polymorphism (SNP) markers, which are usually called from, for example, SNP array or sequencing data using a tetraploid model. In this study, we analyzed the impact of using whole genome markers genotyped as either tetraploid or observed allele frequencies from genotype-by-sequencing data on single-trait additive genomic best linear unbiased prediction (GBLUP) genomic prediction (GP) models and single-marker regression genome-wide association studies of potato to evaluate the implications of capturing varying ploidy on the statistical models employed in genomic breeding. A panel of 762 offspring of a diallel cross of 18 parents of elite breeding material was used for modeling. These were genotyped by sequencing and phenotyped for five key performance traits: chipping quality, length/width ratio, senescence, dry matter content, and yield. We also estimated the read coverage required to confidently discriminate between a heterozygous triploid and tetraploid state from simulated data. It was found that using a tetraploid model neither impaired nor improved genomic predictions compared to using the observed allele frequencies that account for true marker ploidy. In genome-wide associations studies (GWAS), very minor variations of both signal amplitude and number of SNPs supporting both minor and major quantitative trait loci (QTLs) were observed between the two data sets. However, all major QTLs were reproducible using both data sets.

摘要

栽培马铃薯(即 )被认为是具有 12 条染色体且有四个同源阶段的同源四倍体。然而,最近有证据表明,由于基因组中频繁出现大片段阶段缺失,全基因组的基因倍性并不恒定。研究发现,优良品种“奥塔瓦”在所有位点的平均基因拷贝数为 3.2。优良马铃薯品种的育种计划越来越依赖基因组预测工具进行选择育种,并阐明支撑性状遗传变异的数量性状位点。这些工具通常基于匿名单核苷酸多态性(SNP)标记,这些标记通常是从例如 SNP 阵列或测序数据中使用四倍体模型调用的。在本研究中,我们分析了将全基因组标记基因型判定为四倍体或使用测序数据的观察等位基因频率对单性状加性基因组最佳线性无偏预测(GBLUP)基因组预测(GP)模型以及马铃薯单标记回归全基因组关联研究的影响,以评估捕捉不同倍性对基因组育种中所采用统计模型的影响。使用了由 18 个优良育种材料亲本双列杂交产生的 762 个后代组成的群体进行建模。对这些后代进行了测序基因分型,并对五个关键性能性状进行了表型分析:薯片质量、长宽比、衰老、干物质含量和产量。我们还从模拟数据中估计了可靠区分杂合三倍体和四倍体状态所需的读取覆盖率。结果发现,与使用考虑真实标记倍性的观察等位基因频率相比,使用四倍体模型既不会损害也不会改善基因组预测。在全基因组关联研究(GWAS)中,两个数据集之间观察到支持次要和主要数量性状位点(QTL)的 SNP 信号幅度和数量都有非常小的差异。然而,所有主要 QTL 使用两个数据集均可重复。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/025e/11319270/9163111375d4/fpls-15-1386837-g001.jpg

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