然而，由于自然功能缺失(LoF)突变而导致的基因丢失在某种程度上被忽略了，这种突变普遍存在于各种生物的基因组中。随着测序技术的发展，许多基因组被测序到不同的物种，可以用来研究基因丢失的进化模式。本文从LOF突变的鉴定、自然种群的进化动力学和功能效应等方面综述了LOF突变的最新研究进展。
特别是，我们讨论了LoF突变可以提供对有机体的最小基因组(或基本基因组)的人们认知。此外，我们还强调了它们对适应的潜在影响。在基因组水平上，虽然大多数LoF突变是中性或有害的，但至少有一些处于正选择之下，可能有助于生物多样性和适应。
总体而言，我们强调了自然LOF突变的重要性，将其作为理解一般生物学问题的一种强有力的策略。
Gene gain and loss are crucial factors in shaping evolutionary success of diverse organisms. In the past two decades, more attention has been paid to the significance of gene gain via gene duplication or origin of de novo genes. However, gene loss via natural loss-of-function (LoF) mutations, which is pervasive in the genomes of diverse organisms, is largely ignored to some extent. With the development of sequencing techniques, many genomes are sequenced across diverse species, and can be used to study the evolutionary pattern of gene loss. In this review, we summarized the recent advances in research on LoF mutations in various aspects, including their identification, evolutionary dynamics in natural populations and functional effects. In particular, we discussed LoF mutations could provide insights into the minimum gene set (or the essential gene set) for an organism. Furthermore, we emphasized their potential impact on adaptation. At genome level, although most LoF mutations are neutral or deleterious, at least some of them are under positive selection, and could contribute to biodiversity and adaptation. Overall, we highlight the importance of natural LoF mutations as a robust strategy to understand biological questions in general.
版权作品，未经PaperRSS书面授权，严禁转载，违者将被追究法律责任。
PaperRSS，关注生命科学，高校院所科研进展。
