Overcoming challenges and dogmas to understand the functions of pseudogenes.,Nature Reviews Genetics

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Overcoming challenges and dogmas to understand the functions of pseudogenes.
Nature Reviews Genetics ( IF 39.1 ) Pub Date : 2019-12-17 , DOI: 10.1038/s41576-019-0196-1
Seth W Cheetham ₁ , Geoffrey J Faulkner _{1,

2} , Marcel E Dinger ₃

Affiliation

Pseudogenes are defined as regions of the genome that contain defective copies of genes. They exist across almost all forms of life, and in mammalian genomes are annotated in similar numbers to recognized protein-coding genes. Although often presumed to lack function, growing numbers of pseudogenes are being found to play important biological roles. In consideration of their evolutionary origins and inherent limitations in genome annotation practices, we posit that pseudogenes have been classified on a scientifically unsubstantiated basis. We reflect that a broad misunderstanding of pseudogenes, perpetuated in part by the pejorative inference of the 'pseudogene' label, has led to their frequent dismissal from functional assessment and exclusion from genomic analyses. With the advent of technologies that simplify the study of pseudogenes, we propose that an objective reassessment of these genomic elements will reveal valuable insights into genome function and evolution.

中文翻译：

克服挑战和教条以了解假基因的功能。

假基因被定义为基因组中包含有缺陷的基因拷贝的区域。它们几乎存在于所有生命形式中，并且在哺乳动物基因组中被注释为与公认的蛋白质编码基因相似的数量。尽管通常被认为缺乏功能，但越来越多的假基因被发现发挥着重要的生物学作用。考虑到它们的进化起源和基因组注释实践中的固有局限性，我们假设假基因已在科学未经证实的基础上进行分类。我们反映了对假基因的广泛误解，部分原因是“假基因”标签的贬义推断，导致它们经常被排除在功能评估之外，并被排除在基因组分析之外。随着简化假基因研究的技术的出现，

更新日期：2019-12-17

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