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基因组结构变异在地方猪资源保护与分子育种中的应用OA

Application of Genomic Structural Variants in Local Pig Germplasm Conservation and Molecular Breeding

中文摘要英文摘要

基因组结构变异(Structural Variation,SV)是猪基因组中重要的遗传变异类型,可通过改变基因拷贝数、干扰调控序列及重塑局部基因组结构,参与品种分化、环境适应和重要经济性状形成.随着全基因组重测序、长读长三代测序和泛基因组技术的发展,地方猪 SV 研究逐渐延伸至缺失、插入、重复、倒位、易位和移动元件插入等多类型 SV 的检测与群体分析.但目前相关研究仍存在类型划分不统一、检测结果可比性有限、候选位点功能证据不足及育种转化依据薄弱等问题.本文综述了 SV 类型的界定、检测技术、分布特征及其在地方猪资源保护和分子育种中的应用进展,提出候选SV需要经过稳定分型、独立群体验证和功能证据支持,才能作为可靠分子标记应用到育种实践中.

Genomic structural variation(SV)represents a major category of genetic variation in the pig genome and contributes to breed differentiation,environmental adaptation,and the formation of economically important traits by altering gene copy numbers,disrupting regulatory sequences,and reshaping local genomic architectures.With the rapid development of whole-genome resequencing,long-read third-generation sequencing,and pangenomic technologies,research on SVs in indigenous pig breeds has gradually expanded toward the detection and population-scale analysis of diverse SV types,including deletions,insertions,duplications,inversions,translocations,and mobile element insertions.However,current studies still face several challenges,such as inconsistent classification criteria among SV types,limited comparability of detection results across different platforms,insufficient functional evidence for candidate loci,and weak foundations for breeding applications.This review article summarizes recent advances in the definition and classification of SVs,detection methodologies,distribution characteristics,and their applications in the conservation of indigenous pig genetic resources and molecular breeding.Furthermore,it is proposed that candidate SV loci should undergo reliable genotyping,independent population validation,and functional verification before they can be regarded as robust molecular markers for practical breeding programs.

田作坤;李韦;丁月云;殷宗俊

安徽农业大学动物科技学院,安徽 合肥 230036安徽农业大学动物科技学院,安徽 合肥 230036安徽农业大学动物科技学院,安徽 合肥 230036安徽农业大学动物科技学院,安徽 合肥 230036

农业科技

结构变异拷贝数变异种质资源分子育种

PigStructural variationCopy number variationGermplasm resourcesMolecular breeding

《中国畜牧杂志》 2026 (8)

69-76,8

国家自然科学基金(32573167)基于基因组信息分析的皖南花猪家系与生物安全防控优化项目(HX20250823)

10.19556/j.0258-7033.20260615-14

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