Sturrock Shane, Frickey Tancred, Freeman Jules, Butler Jakob, Fritsche Steffi, Gea Paloma, Graham Natalie, Macdonald Lucy, Mercier Céline, Paget Mark, Rippel Salgado Leonardo, Sussmilch Frances, Telfer Emily, Wilcox Phillip, Dungey Heidi, Slavov Gancho
Computational Science, Institute of Environment Science and Research Ltd, 120 Mt Albert Road, Sandringham, Auckland 1025, New Zealand.
Scion, Te Papa Tipu Innovation Park, Tītokorangi Drive, Rotorua 3010, New Zealand.
G3 (Bethesda). 2025 Aug 6;15(8). doi: 10.1093/g3journal/jkaf125.
Pinus radiata D. Don is one of the most widely planted exotic conifers. It is also a threatened species because native populations are small, disjunct, and challenged by pests and pathogens, deforestation, and climate maladaptation. Genomic tools can both enhance genetic improvement in operational breeding programs, and support conservation efforts. Using PacBio long-read sequencing, we assembled 20.6 Gbp of the large and complex P. radiata genome into 305,330 scaffolds, achieving a scaffold N50 of 196.22 kbp, which corresponds to 89% of its estimated genome size. Gene annotation, based on transcriptome data with a 97.9% BUSCO score, yielded 86,039 gene models. Linkage maps were used to anchor 7,952 contigs totaling 1.79 Gbp (approximately 9% of the assembly) across 12 pseudomolecules, which included c. 26% of the predicted genes. Genome resequencing (5.2×) of 40 trees, from 4 native populations and a major Australasian breeding population, uncovered c. 608.3 M SNPs which were used for population genomic analyses. A key finding of these analyses was the slower-than-expected decay of linkage disequilibrium (i.e. r2 > 0.2 up to 30 kb for SNPs with minor allele frequencies ≥ 0.10), suggesting recent drastic reductions of effective population size. Our findings indicate that genomic prediction could use fewer markers than the ca. 30 k that are currently employed. Additionally, this study highlights the potential for Southern Hemisphere breeding programs as ex situ conservation resources and established a foundation for functional characterization of the P. radiata genome.
辐射松(Pinus radiata D. Don)是种植最为广泛的外来针叶树之一。它也是一个濒危物种,因为其原生种群规模小、分布零散,且受到病虫害、森林砍伐和气候适应不良的挑战。基因组工具既能加强实际育种计划中的遗传改良,又能支持保护工作。利用PacBio长读长测序技术,我们将庞大而复杂的辐射松基因组的20.6 Gbp组装成305,330个支架,支架N50达到196.22 kbp,相当于其估计基因组大小的89%。基于转录组数据且BUSCO评分为97.9%的基因注释产生了86,039个基因模型。利用连锁图谱将总共1.79 Gbp(约占组装序列的9%)的7,952个重叠群锚定到12条假分子上,其中包括约26%的预测基因。对来自4个原生种群和一个澳大利亚主要育种种群的40棵树进行基因组重测序(5.2×),发现了约6.083亿个单核苷酸多态性(SNP),用于群体基因组分析。这些分析的一个关键发现是连锁不平衡的衰减比预期慢(即对于次要等位基因频率≥0.10的SNP,r2>0.2时可达30 kb),这表明有效种群大小近期急剧减少。我们的研究结果表明,基因组预测所需的标记数量可能比目前使用的约3万个要少。此外,本研究突出了南半球育种计划作为迁地保护资源的潜力,并为辐射松基因组的功能表征奠定了基础。