豫农黑猪生长相关性状的拷贝数变异全基因组关联分析研究  

Genome-wide Association Study of Copy Number Variation in Growth-Related Traits of Yunong-Black Pigs

作　　者：吴嘉浩 吴姿仪 窦腾飞 白利瑶 张永前 董联合 李鹏飞 李新建[1,4] 韩雪蕾 李秀领[1,2] WU Jiahao;WU Ziyi;DOU Tengfei;BAI Liyao;ZHANG Yongqian;DONG Lianhe;LI Pengfei;LI Xinjian;HAN Xuelei;LI Xiuling(College of Animal Science and Technology,Henan Agricultural University,Zhengzhou 450046,China;Henan Xun County Swine Science and Technology Courtyard,Hebi 456285,China;Henan Yifa Animal Husbandry Co.,Ltd,Hebi 456285,China;Hainan Academy of Agricultural Sciences,Sanya 572025,China)

机构地区：[1]河南农业大学动物科技学院,郑州450046 [2]河南浚县生猪科技小院,鹤壁456285 [3]河南省谊发牧业有限责任公司,鹤壁456285 [4]海南省农业科学院,三亚572025

出　　处：《畜牧兽医学报》2025年第3期1110-1119,共10页ACTA VETERINARIA ET ZOOTECHNICA SINICA

基　　金：国家重点研发计划(2021YFD1301201);河南高等学校重点科研项目(23A230012,25CY014);河南省农业良种联合攻关项目(2022020101)。

摘　　要：旨在检测豫农黑猪全基因组拷贝数变异(copy number variations,CNVs),鉴定豫农黑猪生长相关性状候选基因。本研究收集了豫农黑猪2~5世代种群的生长相关性状数据(包括体长、体高、胸围、管围、腿臀围、背膘厚和眼肌深度),共807头猪(母猪738头,公猪69头),体重范围为95~105 kg。随后采集该试验群体耳组织样本利用中芯一号50K SNP芯片进行基因分型,并使用PennCNV软件对基因型数据进行CNV检测,通过重叠CNV融合法构建拷贝数变异区域(copy number variable regions,CNVRs)图谱。而后使用Plink软件对生长相关性状进行CNV的全基因组关联分析(genome-wide association study,GWAS)。结果,在18条常染色体上共鉴定到1432个CNVs,合并为232个CNVRs,其中CNV大小范围为2.7 kb至2.2 Mb,CNVR大小范围为4.5 kb至2.2 Mb,共覆盖56.4 Mb,占常染色体基因组的2.50%。通过GWAS分析,发现1个CNV在全基因组水平上与胸围性状显著相关,7个CNV在染色体水平上分别与胸围、管围和背膘厚性状显著相关,胸围性状中显著性最高的CNV也与管围性状显著相关。其中,位于17号染色体上的CLDN 23基因与背膘厚显著相关,推测其可能在肌肉发育或脂肪沉积中起重要调控作用。本研究结果为豫农黑猪基因组CNV的功能提供新见解,并为进一步分子标记辅助选择在豫农黑猪新品种培育中提供了重要的理论支持。This study aimed to detect genome-wide copy number variations(CNVs)in Yunong-black pigs and identify candidate genes associated to growth-related traits in this breed.Growth-related traits were collected from 807 Yunong-black pigs(738 sows and 69 boars)across four generations(2rd-5th generation),with body weight range of 95 to 105 kg.The measured traits included body length(BL),body height(BH),chest circumference(CC),cannon bone circumference(CBC),legs buttocks circumference(LBC),backfat thickness(BF),and loin muscle depth(LMD).Ear tissue samples from the experimental population were genotyped using the"Zhongxin-1"50K SNP chip,and CNV detection was performed using PennCNV software.The CNV regions(CNVRs)were identified by merging overlapping CNVs and genome-wide association analysis(GWAS)was conducted using Plink software to examine associations between CNVs and growth-related traits.A total of 1432 CNVs were identified on 18 autosomes and merged into 232 CNVRs.The CNVs ranged in size from 2.7 kb to 2.2 Mb,while CNVRs spanned from 4.5 kb to 2.2 Mb,covering 56.4 Mb or 2.50%of the autosomal genome.GWAS identified one CNV was associated with CC at the genome-wide significance level,and seven CNVs showed suggestive associated with CC,CBC and BF.The CNV most strongly associated with CC also showed a strong association with CBC.Additionally,the CLDN 23 gene on SSC17 was significantly associated with BF,suggesting its potential role in regulating muscle development or fat deposition.This study provides new insights into the functional implications of CNVs in the Yunong-black pig,and offering valuable theoretical support for implement molecular marker-assisted selection in Yunong-black pigs breeding programs.

关 键 词：豫农黑猪 生长性状 拷贝数变异 全基因组关联性分析(GWAS) 

分 类 号：S828.2[农业科学—畜牧学]