近交系巴布拉汉姆猪的基因组组装和转录组图谱,揭示猪的免疫遗传变异

IF 2.9 4区 医学 Q2 GENETICS & HEREDITY Immunogenetics Pub Date : 2024-09-19 DOI:10.1007/s00251-024-01355-7
John C. Schwartz, Colin P. Farrell, Graham Freimanis, Andrew K. Sewell, John D. Phillips, John A. Hammond
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引用次数: 0

摘要

近亲繁殖的巴布拉姆猪具有高度的同源性,包括主要组织相容性复合体(MHC)基因座和其他重要的免疫相关基因复合体的同源性,因此是一种宝贵的生物医学研究模型。由于利用近交系生物控制这种多样性的能力非常有用,我们试图通过生成巴布拉汉姆猪的长线程全基因组组装和转录组图谱来改进这一资源。基因组使用 PacBio 长读数从头组装,并使用 Illumina 短读数进行错误校正。然后将组装的等位基因映射到猪的参考组装 Sscrofa11.1 上,生成染色体级支架。最后得到的 TPI_Babraham_pig_v1 汇编与 Sscrofa11.1 几乎一样连续,等位基因 N50 为 34.95 Mb,等位基因 L50 为 23。其余的序列缺口一般是由于中心粒等大型高度重复区域和串联重复的基因家族(包括免疫相关的基因复合物)组装不良造成的,这些区域和基因复合物在不同单倍型之间的基因含量往往不同。我们还进一步确认了整个巴布拉姆 MHC 的同源性,并描述了其他几个免疫相关基因复合物的等位基因含量和组织表达,包括抗体和 T 细胞受体位点、自然杀伤复合物和白细胞受体复合物。巴布拉汉姆猪基因组组装为家畜基因组学界提供了另一种高度连续的猪基因组组装资源。该基因组还将有助于利用这种动物模型进行生物医学和兽医学研究,例如在控制遗传变异至关重要的情况下。
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A genome assembly and transcriptome atlas of the inbred Babraham pig to illuminate porcine immunogenetic variation

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.

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来源期刊
Immunogenetics
Immunogenetics 医学-免疫学
CiteScore
6.20
自引率
6.20%
发文量
48
审稿时长
1 months
期刊介绍: Immunogenetics publishes original papers, brief communications, and reviews on research in the following areas: genetics and evolution of the immune system; genetic control of immune response and disease susceptibility; bioinformatics of the immune system; structure of immunologically important molecules; and immunogenetics of reproductive biology, tissue differentiation, and development.
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