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可变剪接作为表型多样性的一个来源。

Alternative splicing as a source of phenotypic diversity.

作者信息

Wright Charlotte J, Smith Christopher W J, Jiggins Chris D

机构信息

Tree of Life, Wellcome Sanger Institute, Cambridge, UK.

Department of Zoology, University of Cambridge, Cambridge, UK.

出版信息

Nat Rev Genet. 2022 Nov;23(11):697-710. doi: 10.1038/s41576-022-00514-4. Epub 2022 Jul 12.

Abstract

A major goal of evolutionary genetics is to understand the genetic processes that give rise to phenotypic diversity in multicellular organisms. Alternative splicing generates multiple transcripts from a single gene, enriching the diversity of proteins and phenotypic traits. It is well established that alternative splicing contributes to key innovations over long evolutionary timescales, such as brain development in bilaterians. However, recent developments in long-read sequencing and the generation of high-quality genome assemblies for diverse organisms has facilitated comparisons of splicing profiles between closely related species, providing insights into how alternative splicing evolves over shorter timescales. Although most splicing variants are probably non-functional, alternative splicing is nonetheless emerging as a dynamic, evolutionarily labile process that can facilitate adaptation and contribute to species divergence.

摘要

进化遗传学的一个主要目标是了解导致多细胞生物表型多样性的遗传过程。可变剪接从单个基因产生多个转录本,丰富了蛋白质和表型特征的多样性。众所周知,可变剪接在漫长的进化时间尺度上促成了关键的创新,比如两侧对称动物的大脑发育。然而,长读长测序技术的最新进展以及为多种生物生成高质量基因组组装,有助于比较近缘物种之间的剪接图谱,从而深入了解可变剪接在较短时间尺度上是如何进化的。尽管大多数剪接变体可能没有功能,但可变剪接仍正成为一个动态的、进化上不稳定的过程,它可以促进适应性并导致物种分化。

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