The Pirbright Institute, Ash Road, Woking, GU24 0NF, UK.
Division of Hematology, University of Utah School of Medicine, Salt Lake City, UT, 84112, USA.
Immunogenetics. 2024 Dec;76(5-6):361-380. doi: 10.1007/s00251-024-01355-7. Epub 2024 Sep 19.
The inbred Babraham pig serves as a valuable biomedical model for research due to its high level of homozygosity, including in the major histocompatibility complex (MHC) loci and likely other important immune-related gene complexes, which are generally highly diverse in outbred populations. As the ability to control for this diversity using inbred organisms is of great utility, we sought to improve this resource by generating a long-read whole genome assembly and transcriptome atlas of a Babraham pig. The genome was de novo assembled using PacBio long reads and error-corrected using Illumina short reads. Assembled contigs were then mapped to the porcine reference assembly, Sscrofa11.1, to generate chromosome-level scaffolds. The resulting TPI_Babraham_pig_v1 assembly is nearly as contiguous as Sscrofa11.1 with a contig N50 of 34.95 Mb and contig L50 of 23. The remaining sequence gaps are generally the result of poor assembly across large and highly repetitive regions such as the centromeres and tandemly duplicated gene families, including immune-related gene complexes, that often vary in gene content between haplotypes. We also further confirm homozygosity across the Babraham MHC and characterize the allele content and tissue expression of several other immune-related gene complexes, including the antibody and T cell receptor loci, the natural killer complex, and the leukocyte receptor complex. The Babraham pig genome assembly provides an alternate highly contiguous porcine genome assembly as a resource for the livestock genomics community. The assembly will also aid biomedical and veterinary research that utilizes this animal model such as when controlling for genetic variation is critical.
近交系的 Babraham 猪因其高度的纯合性,包括主要组织相容性复合体(MHC)基因座和可能其他重要的免疫相关基因复合物,成为一种有价值的生物医学模型,而这些在远交群体中通常高度多样化。由于使用近交系生物体来控制这种多样性的能力非常有用,我们试图通过生成 Babraham 猪的长读长全基因组组装和转录组图谱来改进这一资源。该基因组使用 PacBio 长读长进行从头组装,并使用 Illumina 短读长进行纠错。然后将组装的 contigs 映射到猪参考组装 Sscrofa11.1 上,以生成染色体水平的 scaffolds。生成的 TPI_Babraham_pig_v1 组装与 Sscrofa11.1 几乎一样连续,contig N50 为 34.95 Mb,contig L50 为 23。其余的序列缺口通常是由于在大而高度重复的区域(如着丝粒和串联重复基因家族)的组装不佳造成的,这些区域包括免疫相关基因复合物,它们在不同的单倍型之间经常在基因组成上有所不同。我们还进一步确认了 Babraham MHC 中的纯合性,并对其他几个免疫相关基因复合物的等位基因组成和组织表达进行了特征分析,包括抗体和 T 细胞受体基因座、自然杀伤复合物和白细胞受体复合物。Babraham 猪基因组组装提供了一个替代的高度连续的猪基因组组装,作为家畜基因组学社区的资源。该组装还将有助于利用这种动物模型的生物医学和兽医研究,例如在控制遗传变异至关重要时。