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全基因组关联研究鉴定出影响中卫山羊体型性状的候选基因。

Genome-wide association study identifies candidate genes affecting body conformation traits of Zhongwei goat.

作者信息

Han Mingxuan, Wang Xinbo, Du Haidong, Cao Yanlong, Zhao Zhanqiang, Niu Shuran, Bao Xuxu, Rong Youjun, Ao Xiaofang, Guo Furong, Xia Qincheng, Shang Fangzheng, Wang Ruijun, Zhang Yanjun

机构信息

College of Animal Science, Inner Mongolia Agricultural University, Hohhot, 010018, China.

Zhongwei Goat Breeding Farm, Zhongwei, 755006, China.

出版信息

BMC Genomics. 2025 Jan 14;26(1):37. doi: 10.1186/s12864-024-11097-1.

Abstract

BACKGROUND

Identifying markers or genes crucial for growth traits in Zhongwei goats is pivotal for breeding. Pinpointing genetic factors linked to body size gain enhances breeding efficiency and economic value. In this study, we used the MGISEQ-T7 platform to re-sequence 240 Zhongwei goats (133 male; 107 female) belonging to 5 metrics of growth traits at different growth stages (40 days and 6 months, here in after referred to as 40d and 6 m), namely, Body Weight (BW), Body Height (BH), Body Length (BL), Chest Circumference (CC), Tube Circumference (TC) were examined. A Genome-wide association study (GWAS) was conducted to identify candidate genes associated with the five indicators of body conformation traits, thereby establishing a foundation for subsequent investigations into the biological functions of these genes.

RESULTS

A total of 19.89 Tb of raw data was generated with an average sequencing depth of about 20×. After quality control, 15,958,716 SNPs were available for the analysis. A total of 342 genome-wide significant SNPs were obtained. Among them, in the two physiological stages of 40d and 6 m, 147 and 32 SNPs were significantly associated with BW; 1 and 4 SNPs were significantly associated with BH; 19 and 6 SNPs were significantly associated with BL; 33 and 64 SNPs were significantly associated with CC, 34 and 2 SNPs were significantly associated with TC. These SNPs were annotated to 425 candidate genes. Finally, A total of 39 candidate genes are closely related to biological processes such as skeletal muscle development, skeletal formation, carcass quality, and embryonic development, where ADIPOQ, CCDD39, PTPRT, ZNF215, VRTN, ABCD4, DLST, ADAMTS2, ROBO1, AKAP13, AQPI, SOX2, and AHSG were identified as an important component of the genetic framework that may control somatic conformational traits in Zhongwei goats. which warrants further investigation and review. We verified the polymorphism of 11 SNPs by KASP, and found that Chr13_g.11,700,438 A > G, Chr15_g.37,120,328 A > G, Chr6_g.7,209,383 C > T, Chr20_g.51277932T > A, Chr19_g.17,078,199 A > G, and Chr1_g.79,943,276 C > T were significantly genotyped in verified populations (P < 0.001).

CONCLUTION

It is the first GWAS study to analyze genomic data from 40d and 6 m of Zhongwei goats to understand the molecular genetic mechanisms of growth. Our research identified a series of SNPs and candidate genes associated with growth traits, which could assist us in developing the meat production trait in Zhongwei goats.

摘要

背景

鉴定对中卫山羊生长性状至关重要的标记或基因对育种至关重要。确定与体重增加相关的遗传因素可提高育种效率和经济价值。在本研究中,我们使用MGISEQ-T7平台对240只中卫山羊(133只雄性;107只雌性)进行重测序,这些山羊处于不同生长阶段(40天和6个月,以下简称40d和6m)的5个生长性状指标,即体重(BW)、体高(BH)、体长(BL)、胸围(CC)、管围(TC)进行了检测。进行了全基因组关联研究(GWAS)以鉴定与体型性状的五个指标相关的候选基因,从而为后续对这些基因的生物学功能研究奠定基础。

结果

共产生了19.89Tb的原始数据,平均测序深度约为20×。经过质量控制后,有15,958,716个单核苷酸多态性(SNP)可用于分析。共获得342个全基因组显著SNP。其中,在40d和6m这两个生理阶段,分别有147个和32个SNP与BW显著相关;1个和4个SNP与BH显著相关;19个和6个SNP与BL显著相关;33个和64个SNP与CC显著相关;34个和2个SNP与TC显著相关。这些SNP被注释到425个候选基因。最后,共有39个候选基因与骨骼肌发育、骨骼形成、胴体品质和胚胎发育等生物学过程密切相关,其中脂联素(ADIPOQ)、CCDD39、蛋白酪氨酸磷酸酶受体T(PTPRT)、锌指蛋白215(ZNF215)、脊椎发育相关蛋白(VRTN)、ATP结合盒转运蛋白D4(ABCD4)、二氢硫辛酰胺转琥珀酰酶(DLST)、含血小板反应蛋白基序的解聚素样金属蛋白酶2(ADAMTS2)、轴突导向分子1(ROBO1)、A激酶锚定蛋白13(AKAP13)、水通道蛋白1(AQPI)、性别决定区Y盒2(SOX2)和血清淀粉样蛋白A糖蛋白(AHSG)被确定为可能控制中卫山羊体型性状的遗传框架的重要组成部分,这值得进一步研究和审视。我们通过竞争性等位基因特异性PCR(KASP)验证了11个SNP的多态性,发现Chr13_g.11,700,438 A>G、Chr15_g.37,120,328 A>G、Chr6_g.7,209,383 C>T、Chr20_g.51277932T>A、Chr19_g.17,078,199 A>G和Chr1_g.79,943,276 C>T在验证群体中具有显著的基因型(P<0.001)。

结论

这是首次对40d和6m的中卫山羊基因组数据进行分析以了解生长分子遗传机制的GWAS研究。我们的研究鉴定了一系列与生长性状相关的SNP和候选基因,这有助于我们培育中卫山羊的肉用生产性状。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e970/11730152/9e5114b51ff5/12864_2024_11097_Fig1_HTML.jpg

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