基于基因组结构变异解析动物复杂性状的研究进展

Research progresses in revealing complex traits of animalsbased on genomic structural variations

动物为了适应环境而演化出多种多样的表型性状.揭示物种复杂性状的分子机制对理解物种适应性演化至关重要.基因组结构变异是动物复杂性状重要分子机制之一,它反映了基因组不同位置和序列的可变性,包括大片段的平衡变异倒位、易位,以及非平衡变异插入、缺失和重复等多种多样变异类型.相对于单碱基变异和小片段插入缺失,基因组结构变异在基因组上影响的碱基范围更广,对动物复杂性状的影响更大.本文通过对基因组结构变异的类型和结构变异的检测鉴定技术的研究历史进行概述,并从动物毛色性状、极端环境适应性状和驯养动物经济性状等方面综述基因组结构变异与复杂性状关联的研究进展,为从基因组结构变异的角度解析动物复杂性状产生的分子机制提供重要参考.

Animals have evolved a wide variety of phenotypic traits to adapt to their environment. Among the molecular mechanisms of traitevolution, genomic structural variation is one of the important driving forces affecting complex traits in animals, which reflectsvariability at different locations and sequences in the genome, including a wide range of variant types such as large segment balancedvariant inversions and translocations, and unbalanced variant insertions, deletions and duplications. Compared with single-basevariants and small insertion deletions, genomic structural variants affect a wider range of DNA sequences in the genome and have agreater impact on complex traits in species. In this article, we will summarize the types of genomic structural variants and thedevelopment history of techniques for their detections and identifications, and review the research progress on the associationbetween genomic structural variants and complex traits in terms of animal coat color traits, extreme environmental adaptations, andeconomic traits of domesticated animals, to provide important references to analyze the molecular mechanisms of complex traits fromthe perspective of genomic structural variants.