Department of Interdisciplinary Life Sciences, Research Institute of Wildlife Ecology, Vetmeduni Vienna, Vienna, Austria.
Intelligent Systems Laboratory, University of Bristol, Bristol, UK.
BMC Genomics. 2020 Sep 3;21(1):606. doi: 10.1186/s12864-020-06990-4.
Immune-response (IR) genes have an important role in the defense against highly variable pathogens, and therefore, diversity in these genomic regions is essential for species' survival and adaptation. Although current genome assemblies from Old World camelids are very useful for investigating genome-wide diversity, demography and population structure, they have inconsistencies and gaps that limit analyses at local genomic scales. Improved and more accurate genome assemblies and annotations are needed to study complex genomic regions like adaptive and innate IR genes.
In this work, we improved the genome assemblies of the three Old World camel species - domestic dromedary and Bactrian camel, and the two-humped wild camel - via different computational methods. The newly annotated dromedary genome assembly CamDro3 served as reference to scaffold the NCBI RefSeq genomes of domestic Bactrian and wild camels. These upgraded assemblies were then used to assess nucleotide diversity of IR genes within and between species, and to compare the diversity found in immune genes and the rest of the genes in the genome. We detected differences in the nucleotide diversity among the three Old World camelid species and between IR gene groups, i.e., innate versus adaptive. Among the three species, domestic Bactrian camels showed the highest mean nucleotide diversity. Among the functionally different IR gene groups, the highest mean nucleotide diversity was observed in the major histocompatibility complex.
The new camel genome assemblies were greatly improved in terms of contiguity and increased size with fewer scaffolds, which is of general value for the scientific community. This allowed us to perform in-depth studies on genetic diversity in immunity-related regions of the genome. Our results suggest that differences of diversity across classes of genes appear compatible with a combined role of population history and differential exposures to pathogens, and consequent different selective pressures.
免疫反应 (IR) 基因在抵御高度变异的病原体方面起着重要作用,因此,这些基因组区域的多样性对于物种的生存和适应至关重要。尽管来自旧大陆骆驼的现有基因组组装非常有助于研究全基因组多样性、人口统计学和种群结构,但它们存在不一致和空白,限制了局部基因组尺度的分析。需要改进和更准确的基因组组装和注释,以研究适应性和先天免疫反应等复杂基因组区域的基因。
在这项工作中,我们通过不同的计算方法改进了三种旧大陆骆驼物种——家养单峰驼和双峰驼以及双峰野生骆驼的基因组组装。新注释的单峰驼基因组组装 CamDro3 被用作参考,以支架家养双峰驼和野生骆驼的 NCBI RefSeq 基因组。然后使用这些升级的组装来评估物种内和物种间 IR 基因的核苷酸多样性,并比较免疫基因和基因组其余基因中发现的多样性。我们检测到了三种旧大陆骆驼物种之间以及 IR 基因组之间的核苷酸多样性差异,即先天与适应性。在这三个物种中,家养双峰驼的平均核苷酸多样性最高。在功能不同的 IR 基因组中,主要组织相容性复合体观察到的平均核苷酸多样性最高。
新的骆驼基因组组装在连续性和大小方面都有了很大的改进,具有更少的支架和更多的拼接,这对科学界具有普遍价值。这使我们能够对基因组中与免疫相关区域的遗传多样性进行深入研究。我们的研究结果表明,不同基因类别的多样性差异似乎与种群历史和对病原体的不同暴露以及随之而来的不同选择压力相结合。