中国畜禽种业2025，Vol.21Issue(11)：75-89,15.
肉牛基因组拷贝数变异研究进展
Research Progress of Genomic Copy Number Variation in Beef Cattle
摘要
Abstract
Genomic copy number variation(CNV),as an important form of structural variation,affects gene expression through mechanisms such as gene dosage effect and positional effect,and is of key significance in beef cattle genetic breeding.This paper systematically reviews the core progress in the research on genomic copy number variation in beef cattle:first,it explains the defini-tion of genomic copy number variation and its main formation mechanisms,including non-homologous end joining,non-allelic ho-mologous recombination,and fork stalling and template switching.In terms of detection technologies,from the early comparative genomic hybridization chips and single nucleotide polymorphism arrays,to next generation sequencing technology,and then to the latest third generation sequencing(TGS)technology,the sequencing accuracy and efficiency have been gradually improved,which has promoted the accurate detection and in-depth research of whole-genome copy number variation in beef cattle.Comparative ge-nomic hybridization chip technology has revealed the association between breed-specific genomic copy number variation regions and population differentiation in beef cattle.Single nucleotide polymorphism array technology has screened candidate genomic copy number variations related to growth and meat quality traits through high-density markers.Next generation sequencing technol-ogy has identified genomic copy number variation genes related to adaptive evolution and disease resistance in large-scale popula-tions,such as olfactory receptor genes and pathogen resistance genes.The latest third generation sequencing technology,relying on the advantage of read length,has shown unique value in the assembly of complex genomic regions and the accurate identification of structural variations,and has successfully analyzed key genetic characteristics such as the copy number expansion of immune-relat-ed genes in zebu cattle and the plateau adaptation candidate genes in yaks.Studies have shown that genomic copy number variation significantly affects the growth rate,intramuscular fat deposition and disease resistance of beef cattle by regulating the expression of genes such as KCNJ12,SYT11 and GBP2.However,current research still faces challenges such as data accuracy,detection cost and complex data analysis.In the future,through the integration of TGS-driven pangenome construction and single-cell multi-omics technology in the research of beef cattle genomic copy number variation,genomic copy number variation markers are expected to play a greater role in analyzing the genetic mechanism of complex traits and developing high-precision molecular breeding markers.At the same time,combining artificial intelligence to analyze the functional mechanism of genomic copy number variation is of great significance for deciphering the genetic mechanism of complex traits in beef cattle populations.关键词
基因组拷贝数变异/肉牛/检测技术/第三代测序/研究进展Key words
Genomic copy number variation/Beef cattle/Detection techniques/TGS/Research progress分类
农业科技引用本文复制引用
刘锋,张路培,高雪,高会江,李俊雅,朱波,徐凌洋,许博然,武嘉远,赵志达,吴天弋,徐林波,王泽昭,郑彩宏,陈燕..肉牛基因组拷贝数变异研究进展[J].中国畜禽种业,2025,21(11):75-89,15.基金项目
国家自然科学基金(32272835,32272843) （32272835,32272843）
财政部和农业农村部:国家现代农业产业技术体系 （）
中国农业科学院创新工程(CAAS-ZDRW202102) （CAAS-ZDRW202102）
呼和浩特市产业技术创新研究院(2022RC-IRI-5). （2022RC-IRI-5）
