Michael Smith Laboratories, University of British Columbia, Vancouver, British Columbia V6T 1Z4, Canada.
Pharmacognosy Department, Faculty of Pharmacy, Alexandria University, Alexandria 21521, Egypt.
Genome Res. 2022 Oct;32(10):1952-1964. doi: 10.1101/gr.276358.121. Epub 2022 Sep 15.
We assembled the 9.8-Gbp genome of western redcedar (WRC; ), an ecologically and economically important conifer species of the Cupressaceae. The genome assembly, derived from a uniquely inbred tree produced through five generations of self-fertilization (selfing), was determined to be 86% complete by BUSCO analysis, one of the most complete genome assemblies for a conifer. Population genomic analysis revealed WRC to be one of the most genetically depauperate wild plant species, with an effective population size of approximately 300 and no significant genetic differentiation across its geographic range. Nucleotide diversity, π, is low for a continuous tree species, with many loci showing zero diversity, and the ratio of π at zero- to fourfold degenerate sites is relatively high (approximately 0.33), suggestive of weak purifying selection. Using an array of genetic lines derived from up to five generations of selfing, we explored the relationship between genetic diversity and mating system. Although overall heterozygosity was found to decline faster than expected during selfing, heterozygosity persisted at many loci, and nearly 100 loci were found to deviate from expectations of genetic drift, suggestive of associative overdominance. Nonreference alleles at such loci often harbor deleterious mutations and are rare in natural populations, implying that balanced polymorphisms are maintained by linkage to dominant beneficial alleles. This may account for how WRC remains responsive to natural and artificial selection, despite low genetic diversity.
我们组装了西部红柏(WRC)的 9.8Gbp 基因组,这是柏科中一种具有生态和经济重要性的针叶树种。该基因组组装来自一棵独特的自交树,通过五代自交产生,通过 BUSCO 分析确定其完整度为 86%,是最完整的针叶树基因组之一。群体基因组分析表明,WRC 是遗传最贫乏的野生植物物种之一,有效种群大小约为 300,在其地理范围内没有明显的遗传分化。对于连续树种而言,核苷酸多样性 π 较低,许多位点显示零多样性,并且零到四倍简并位点的 π 比值相对较高(约 0.33),表明弱净化选择。利用多达五代自交衍生的一系列遗传系,我们探讨了遗传多样性与交配系统之间的关系。尽管自交过程中总体杂合度的下降速度快于预期,但许多位点仍保持杂合性,并且近 100 个位点偏离遗传漂变的预期,暗示关联超显性。这些位点的非参考等位基因通常携带有害突变,在自然种群中很少见,这表明平衡多态性是通过与显性有利等位基因的连锁来维持的。这可能解释了为什么尽管遗传多样性较低,但 WRC 仍然对自然和人工选择有反应。