小鼠参考品系 C57BL/6J 蛋白编码基因组中失活突变概述。
Overview of inactivating mutations in the protein-coding genome of the mouse reference strain C57BL/6J.
机构信息
VIB Center for Inflammation Research, Ghent, Belgium.
Department of Biomedical Molecular Biology, Ghent University, Ghent, Belgium.
出版信息
JCI Insight. 2018 Jul 12;3(13):121758. doi: 10.1172/jci.insight.121758.
Mice are extremely important as the premier model organism in human biomedical and mammalian genetic research. The genomes of several tens of mouse inbred strains have been sequenced. They have been compared to the genome of C57BL/6J, considered by convention as the reference genome. Based on a comparison of this reference genome with 36 other sequenced mouse strains, we generated an overview of all protein-coding genes that are deviant in this reference genome, compared with consensus protein-coding mouse gene sequences. We provide PROVEAN scores, reflecting the likelihood that these C57BL/6J proteins have lost function. We thus identified numerous abnormal proteins, and biological pathways, specifically present in C57BL/6J, suggesting the important caveats of this reference mouse strain, and linking candidate genes to some of the best-known phenotypes of this strain.
老鼠是人类生物医学和哺乳动物遗传研究中最重要的模式生物。数十种近交系老鼠的基因组已经被测序。它们与 C57BL/6J 的基因组进行了比较，根据传统，C57BL/6J 被认为是参考基因组。基于与 36 个其他已测序的老鼠品系的比较，我们生成了一个所有在这个参考基因组中异常的编码蛋白基因的概览，与共识的老鼠编码蛋白基因序列进行了比较。我们提供了 PROVEAN 分数，反映了这些 C57BL/6J 蛋白失去功能的可能性。因此，我们鉴定了许多异常蛋白和生物途径，这些异常蛋白和生物途径在 C57BL/6J 中特异性出现，这表明了这个参考老鼠品系的重要注意事项，并将候选基因与这个品系中一些最著名的表型联系起来。
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