Gene gain and loss are crucial factors that shape the evolutionary success of diverse organisms.In the past two decades,more attention has been paid to the significance of gene gain through gene duplication or de novo...Gene gain and loss are crucial factors that shape the evolutionary success of diverse organisms.In the past two decades,more attention has been paid to the significance of gene gain through gene duplication or de novo genes.However,gene loss through natural loss-of-function(LoF)mutations,which isprevalent in the genomes of diverse organisms,has been largely ignored.With the development of sequencing techniques,many genomes have been sequenced across diverse species and can be used to study the evolutionary patterns of gene loss.In this review,we summarize recent advances in research on various aspects of LoF mutations,including their identification,evolutionary dynamics in natural populations,and functional effects.In particular,we discuss how LoF mutations can provide insights into the minimum gene set(or the essential gene set)of an organism.Furthermore,we emphasize their potential impact on adaptation.At the genome level,although most LoF mutations are neutral or deleterious,at least some of them are under positive selection and may contribute to biodiversity and adaptation.Overall,we highlight the importance of natural LoF mutations as a robust framework for understanding biological questions in general.展开更多
基金supported by the National Natural Science Foundation of China(31925004)the Strategic Priority Research Program of the Chinese Academy of Sciences(XDB27010305)the Innovative Academy of Seed Design,Chinese Academy of Sciences.
文摘Gene gain and loss are crucial factors that shape the evolutionary success of diverse organisms.In the past two decades,more attention has been paid to the significance of gene gain through gene duplication or de novo genes.However,gene loss through natural loss-of-function(LoF)mutations,which isprevalent in the genomes of diverse organisms,has been largely ignored.With the development of sequencing techniques,many genomes have been sequenced across diverse species and can be used to study the evolutionary patterns of gene loss.In this review,we summarize recent advances in research on various aspects of LoF mutations,including their identification,evolutionary dynamics in natural populations,and functional effects.In particular,we discuss how LoF mutations can provide insights into the minimum gene set(or the essential gene set)of an organism.Furthermore,we emphasize their potential impact on adaptation.At the genome level,although most LoF mutations are neutral or deleterious,at least some of them are under positive selection and may contribute to biodiversity and adaptation.Overall,we highlight the importance of natural LoF mutations as a robust framework for understanding biological questions in general.
