Coding variants in mouse and rat model organisms: mousepost and ratpost.

Steven Timmermans, Claude Libert
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Abstract

Mice and rats are the most commonly used vertebrate model organisms in biomedical research. The availability of a reference genome in both animals combined with the deep sequencing of several doze of popular inbred lines also provides rich sequence variation data in these species. In some cases, such sequence variants can be linked directly to a distinctive phenotype. In previous work, we created the mouse and rat online searchable databases ("Mousepost" and "Ratpost") where small variant information for protein coding transcripts in mouse and rat inbred strains can be easily retrieved at the amino acid level. These tools are directly useful in forward genetics strategies or as a repository of existing sequence variations. Here, we perform a comparison between the "Mousepost" and "Ratpost" databases and we couple these two tools to a database of human sequence variants ClinVar. We investigated the level of redundancy and complementarity of known variants in protein coding transcripts and found that the large majority of variants is species-specific. However, a small set of positions is conserved in an inbred line between both species. We conclude that both databases are highly complementary, but this may change with further sequencing efforts in both species.

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小鼠和大鼠模式生物的编码变异:mousepost和ratpost。
小鼠和大鼠是生物医学研究中最常用的脊椎动物模式生物。这两种动物的参考基因组的可用性,结合几十个流行的自交系的深度测序,也为这些物种提供了丰富的序列变异数据。在某些情况下,这样的序列变异可以直接与一种独特的表型联系起来。在之前的工作中,我们创建了小鼠和大鼠在线搜索数据库(“Mousepost”和“Ratpost”),可以在氨基酸水平上轻松检索小鼠和大鼠近交系中蛋白质编码转录物的小变异信息。这些工具直接用于正向遗传策略或作为现有序列变异的存储库。在这里,我们对“Mousepost”和“Ratpost”数据库进行比较,并将这两个工具与人类序列变体ClinVar数据库相结合。我们研究了蛋白质编码转录本中已知变异的冗余和互补性水平,发现绝大多数变异是物种特异性的。然而,在两个物种之间的近交系中,有一小部分位置是保守的。我们得出结论,这两个数据库具有高度的互补性,但这可能会随着对两个物种的进一步测序工作而改变。
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