Mater Research Institute-University of Queensland, TRI Building, QLD, 4102, Woolloongabba, Australia.
Australian Institute for Bioengineering and Nanotechnology, University of Queensland, Brisbane, QLD, 4072, Australia.
Genome Biol. 2021 May 10;22(1):146. doi: 10.1186/s13059-021-02369-0.
Pseudogenes are gene copies presumed to mainly be functionless relics of evolution due to acquired deleterious mutations or transcriptional silencing. Using deep full-length PacBio cDNA sequencing of normal human tissues and cancer cell lines, we identify here hundreds of novel transcribed pseudogenes expressed in tissue-specific patterns. Some pseudogene transcripts have intact open reading frames and are translated in cultured cells, representing unannotated protein-coding genes. To assess the biological impact of noncoding pseudogenes, we CRISPR-Cas9 delete the nucleus-enriched pseudogene PDCL3P4 and observe hundreds of perturbed genes. This study highlights pseudogenes as a complex and dynamic component of the human transcriptional landscape.
假基因是基因拷贝，由于获得性有害突变或转录沉默，被认为主要是进化的无功能遗迹。通过对正常人体组织和癌细胞系进行深度全长 PacBio cDNA 测序，我们在这里鉴定了数百种在组织特异性模式中表达的新型转录假基因。一些假基因转录本具有完整的开放阅读框，并在培养细胞中翻译，代表未注释的蛋白质编码基因。为了评估非编码假基因的生物学影响，我们使用 CRISPR-Cas9 敲除富含核的假基因 PDCL3P4，并观察到数百个受到干扰的基因。本研究强调了假基因是人类转录景观的一个复杂而动态的组成部分。
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