相对于格陵兰狼外群的犬科序列变异图。

IF 2.7 4区 生物学 Q3 BIOCHEMISTRY & MOLECULAR BIOLOGY Mammalian Genome Pub Date : 2024-08-01 DOI:10.1007/s00335-024-10056-1
Anthony K Nguyen, Peter Z Schall, Jeffrey M Kidd
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引用次数: 0

摘要

15 年来,犬类遗传学研究一直依赖于一只名叫塔莎的拳师种犬(即 canFam3.1)的参考组装。近来,随着长线程测序和基因组组装技术的进步,从不同犬科动物中开发出了许多高质量的组装结果。这些组装结果在完整性、连续性以及基因启动子和基因模型的表示方面都有显著的改进。尽管基因组图谱和泛基因组方法前景广阔,但大多数犬科动物的遗传分析都依赖于将 Illumina 测序读数映射到单一参考文献。Dog10K 联盟和其他机构通过将 Illumina 测序读数与从名为 Mischka 的德国牧羊犬(即 canFam4, UU_Cfam_GSD_1.0)获得的参考基因组进行比对,生成了遗传变异的深度目录。然而,与源于品种的基因组比对可能会在不同样本的基因型调用中产生偏差。由于使用外群参考基因组可以消除这种影响,我们使用格陵兰狼(mCanLor1.2)作为参考,重新处理了 Dog10K 联盟分析的 1929 个样本。我们使用通用分析工具的 GPU 实现,高效地进行了重映射和变异调用。由此产生的调用集消除了不同样本间遗传差异的变异性,主成分分析所揭示的品种关系不受参考基因组选择的影响。利用这些序列数据,我们推断了种群规模的历史,发现相对于狼,乡村犬种群的历史有效种群规模减少了 9-13 倍。
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A map of canine sequence variation relative to a Greenland wolf outgroup.

For over 15 years, canine genetics research relied on a reference assembly from a Boxer breed dog named Tasha (i.e., canFam3.1). Recent advances in long-read sequencing and genome assembly have led to the development of numerous high-quality assemblies from diverse canines. These assemblies represent notable improvements in completeness, contiguity, and the representation of gene promoters and gene models. Although genome graph and pan-genome approaches have promise, most genetic analyses in canines rely upon the mapping of Illumina sequencing reads to a single reference. The Dog10K consortium, and others, have generated deep catalogs of genetic variation through an alignment of Illumina sequencing reads to a reference genome obtained from a German Shepherd Dog named Mischka (i.e., canFam4, UU_Cfam_GSD_1.0). However, alignment to a breed-derived genome may introduce bias in genotype calling across samples. Since the use of an outgroup reference genome may remove this effect, we have reprocessed 1929 samples analyzed by the Dog10K consortium using a Greenland wolf (mCanLor1.2) as the reference. We efficiently performed remapping and variant calling using a GPU-implementation of common analysis tools. The resulting call set removes the variability in genetic differences seen across samples and breed relationships revealed by principal component analysis are not affected by the choice of reference genome. Using this sequence data, we inferred the history of population sizes and found that village dog populations experienced a 9-13 fold reduction in historic effective population size relative to wolves.

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来源期刊
Mammalian Genome
Mammalian Genome 生物-生化与分子生物学
CiteScore
4.00
自引率
0.00%
发文量
33
审稿时长
6-12 weeks
期刊介绍: Mammalian Genome focuses on the experimental, theoretical and technical aspects of genetics, genomics, epigenetics and systems biology in mouse, human and other mammalian species, with an emphasis on the relationship between genotype and phenotype, elucidation of biological and disease pathways as well as experimental aspects of interventions, therapeutics, and precision medicine. The journal aims to publish high quality original papers that present novel findings in all areas of mammalian genetic research as well as review articles on areas of topical interest. The journal will also feature commentaries and editorials to inform readers of breakthrough discoveries as well as issues of research standards, policies and ethics.
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