Department of Biochemistry and Molecular Genetics, University of Louisville School of Medicine, Louisville, KY, 40202, USA.
Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA.
Immunol Cell Biol. 2019 Nov;97(10):888-901. doi: 10.1111/imcb.12288. Epub 2019 Oct 6.
The genomes of classical inbred mouse strains include genes derived from all three major subspecies of the house mouse, Mus musculus. We recently posited that genetic diversity in the immunoglobulin heavy chain (IGH) gene loci of C57BL/6 and BALB/c mice reflects differences in subspecies origin. To investigate this hypothesis, we conducted high-throughput sequencing of IGH gene rearrangements to document IGH variable (IGHV), joining (IGHJ) and diversity (IGHD) genes in four inbred wild-derived mouse strains (CAST/EiJ, LEWES/EiJ, MSM/MsJ and PWD/PhJ) and a single disease model strain (NOD/ShiLtJ), collectively representing genetic backgrounds of several major mouse subspecies. A total of 341 germline IGHV sequences were inferred in the wild-derived strains, including 247 not curated in the international ImMunoGeneTics information system. By contrast, 83/84 inferred NOD IGHV genes had previously been observed in C57BL/6 mice. Variability among the strains examined was observed for only a single IGHJ gene, involving a description of a novel allele. By contrast, unexpected variation was found in the IGHD gene loci, with four previously unreported IGHD gene sequences being documented. Very few IGHV sequences of C57BL/6 and BALB/c mice were shared with strains representing major subspecies, suggesting that their IGH loci may be complex mosaics of genes of disparate origins. This suggests a similar level of diversity is likely present in the IGH loci of other classical inbred strains. This must now be documented if we are to properly understand interstrain variation in models of antibody-mediated disease.
经典近交系小鼠的基因组包含来自三种主要小家鼠亚种的基因,即 Mus musculus。我们最近提出,C57BL/6 和 BALB/c 小鼠的免疫球蛋白重链 (IGH) 基因座的遗传多样性反映了亚种起源的差异。为了验证这一假设,我们对 IGH 基因重排进行了高通量测序,以记录四种近交野生来源小鼠品系(CAST/EiJ、LEWES/EiJ、MSM/MsJ 和 PWD/PhJ)和一个单一疾病模型品系(NOD/ShiLtJ)的 IGH 可变 (IGHV)、连接 (IGHJ) 和多样性 (IGHD) 基因。这些品系代表了几个主要小鼠亚种的遗传背景。在野生来源的品系中推断出 341 个种系 IGHV 序列,其中 247 个序列未在国际免疫基因学信息系统中进行注释。相比之下,83/84 个推断的 NOD IGHV 基因之前曾在 C57BL/6 小鼠中观察到。在所检查的品系中仅观察到单个 IGHJ 基因的变异性,涉及一个新等位基因的描述。相比之下,在 IGHD 基因座中发现了意想不到的变异,有四个以前未报道的 IGHD 基因序列被记录下来。C57BL/6 和 BALB/c 小鼠的 IGHV 序列与代表主要亚种的品系很少共享,这表明它们的 IGH 基因座可能是基因起源不同的复杂镶嵌体。这表明其他经典近交系的 IGH 基因座可能具有相似水平的多样性。如果我们要正确理解抗体介导疾病模型中的种间变异,就必须记录下这一点。