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小鼠假基因的转录活性和株系特异性历史。

Transcriptional activity and strain-specific history of mouse pseudogenes.

机构信息

Program in Computational Biology and Bioinformatics, Yale University, New Haven, CT, 06520, USA.

Department of Molecular Biophysics and Biochemistry, Yale University, New Haven, CT, 06520, USA.

出版信息

Nat Commun. 2020 Jul 29;11(1):3695. doi: 10.1038/s41467-020-17157-w.

Abstract

Pseudogenes are ideal markers of genome remodelling. In turn, the mouse is an ideal platform for studying them, particularly with the recent availability of strain-sequencing and transcriptional data. Here, combining both manual curation and automatic pipelines, we present a genome-wide annotation of the pseudogenes in the mouse reference genome and 18 inbred mouse strains (available via the mouse.pseudogene.org resource). We also annotate 165 unitary pseudogenes in mouse, and 303, in human. The overall pseudogene repertoire in mouse is similar to that in human in terms of size, biotype distribution, and family composition (e.g. with GAPDH and ribosomal proteins being the largest families). Notable differences arise in the pseudogene age distribution, with multiple retro-transpositional bursts in mouse evolutionary history and only one in human. Furthermore, in each strain about a fifth of all pseudogenes are unique, reflecting strain-specific evolution. Finally, we find that ~15% of the mouse pseudogenes are transcribed, and that highly transcribed parent genes tend to give rise to many processed pseudogenes.

摘要

假基因是基因组重排的理想标志物。反过来,老鼠是研究它们的理想平台,特别是最近有了品系测序和转录数据。在这里,我们结合手动注释和自动分析流程,对小鼠参考基因组和 18 个近交系小鼠品系中的假基因进行了全基因组注释(可通过 mouse.pseudogene.org 资源获取)。我们还注释了 165 个单元假基因在小鼠中,303 个在人类中。小鼠的整体假基因库在大小、生物类型分布和家族组成方面与人类相似(例如,GAPDH 和核糖体蛋白是最大的家族)。在假基因年龄分布方面出现了显著差异,在小鼠进化历史上发生了多次 retro-transpositional 爆发,而在人类中只有一次。此外,在每个品系中,约有五分之一的所有假基因是独特的,反映了品系特异性进化。最后,我们发现约 15%的小鼠假基因是转录的,并且高转录的亲本基因往往会产生许多加工后的假基因。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4ff4/7392758/8e78a3421eda/41467_2020_17157_Fig1_HTML.jpg

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