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在法国约克夏猪中,全基因组检测与乳头数相关的多个变体。

Genome-wide detection of multiple variants associated with teat number in French Yorkshire pigs.

机构信息

College of Animal Science and National Engineering Research Center for Breeding Swine Industry, South China Agricultural University, Guangzhou, 510642, China.

Guangdong Zhongxin Breeding Technology Co., Ltd, Guangzhou, 510642, China.

出版信息

BMC Genomics. 2024 Jul 25;25(1):722. doi: 10.1186/s12864-024-10611-9.

Abstract

BACKGROUND

Teat number is a vital reproductive trait in sows, crucial for providing immunity and nutrition to piglets during lactation. However, "missing heritability" in Single Nucleotide Polymorphism (SNP)-based Genome-Wide Association Studies (GWAS) has led to an increasing focus on structural variations in the genetic analysis of complex biological traits.

RESULTS

In this study, we generated a comprehensive CNV map in a population of French Yorkshire pigs (n = 644) and identified 429 CNVRs. Notably, 44% (189 CNVRs) of these were detected for the first time. Subsequently, we conducted GWAS for teat number in the French Yorkshire pig population using both 80K chip and its imputed data, as well as a GWAS analysis based on CNV regions (CNVR). Interestingly, 80K chip GWAS identified two SNPs located on Sus scrofa chromosome 5 (SSC5) that were simultaneously associated with Total Teat Number (TTN), Left Teat Number (LTN), and Right Teat Number (RTN). The leading SNP (WU_10.2_5_76130558) explained 3.33%, 2.69%, and 2.67% of the phenotypic variance for TTN, LTN, and RTN, respectively. Moreover, through imputed GWAS, we successfully identified 30 genetic variants associated with TTN located within the 73.22 -73.30 Mb region on SSC5. The two SNPs identified in the 80K chip GWAS were also located in this region. In addition, CNVR-based GWAS revealed three significant CNVRs associated with TTN. Finally, through gene annotation, we pinpointed two candidate genes, TRIM66 and PRICKLE1, which are related to diverse processes such as breast cancer and abnormal vertebral development.

CONCLUSIONS

Our research provides an in-depth analysis of the complex genetic structure underlying teat number, contributing to the genetic enhancement of sows with improved reproductive performance and, ultimately, bolstering the economic benefits of swine production enterprises.

摘要

背景

乳头数是母猪的一个重要繁殖性状,对哺乳期仔猪的免疫和营养至关重要。然而,基于单核苷酸多态性(SNP)的全基因组关联研究(GWAS)中的“遗传缺失”导致人们越来越关注复杂生物性状的遗传分析中的结构变异。

结果

本研究在法国约克夏猪群体中生成了一个全面的 CNV 图谱(n=644),并鉴定了 429 个 CNVR。值得注意的是,其中 44%(189 个 CNVR)是首次发现。随后,我们使用 80K 芯片及其推断数据以及基于 CNV 区域(CNVR)的 GWAS 分析,对法国约克夏猪群体的乳头数进行了 GWAS。有趣的是,80K 芯片 GWAS 鉴定了位于 Sus scrofa 染色体 5(SSC5)上的两个 SNP,它们同时与总乳头数(TTN)、左乳头数(LTN)和右乳头数(RTN)相关。主导 SNP(WU_10.2_5_76130558)分别解释了 TTN、LTN 和 RTN 表型方差的 3.33%、2.69%和 2.67%。此外,通过推断 GWAS,我们成功鉴定了位于 SSC5 上 73.22-73.30 Mb 区域内与 TTN 相关的 30 个遗传变异,这些变异位于 80K 芯片 GWAS 鉴定的 30 个遗传变异中。在 80K 芯片 GWAS 中鉴定的两个 SNP 也位于该区域。此外,基于 CNVR 的 GWAS 揭示了三个与 TTN 相关的显著 CNVR。最后,通过基因注释,我们确定了两个候选基因 TRIM66 和 PRICKLE1,它们与乳腺癌和异常椎体发育等多种过程有关。

结论

本研究深入分析了乳头数的复杂遗传结构,为提高母猪繁殖性能的遗传改良提供了基础,最终提高了养猪企业的经济效益。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f220/11271213/60daf4c6e8b9/12864_2024_10611_Fig1_HTML.jpg

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