西班牙纯种马母马繁殖力的全基因组关联研究。

A genome-wide association study of mare fertility in the Pura Raza Español horse.

作者信息

Laseca N, Demyda-Peyrás S, Valera M, Ramón M, Escribano B, Perdomo-González D I, Molina A

机构信息

Departamento de Genética. Facultad de Veterinaria, Universidad de Córdoba, Campus de Rabanales, CN-IV km 396, 14071 Córdoba, España.

Departamento de Producción Animal, Facultad de Ciencias Veterinarias, Universidad Nacional de La Plata, Calle 60 y 118 s/n, La Plata 1900, Argentina; Consejo Nacional de Investigaciones Científicas y Tecnológicas (CONICET) La Plata, La Plata 1900, Argentina.

出版信息

Animal. 2022 Mar;16(3):100476. doi: 10.1016/j.animal.2022.100476. Epub 2022 Mar 2.

DOI:10.1016/j.animal.2022.100476

PMID:35247706

Abstract

Despite the economic importance of fertility for the horse industry, few efforts have been made to achieve a better understanding of the genetic mechanisms underlying its control. This is probably due to the difficulty of obtaining reliable phenotypes and the complexity of modelling the environmental and management factors. This work is novel in that we propose to use reproductive efficiency (RE) as an indicator of mare fertility. To achieve this, we performed a genome-wide association study in the Pura Raza Español horse aimed at identifying genomic variants, regions, and candidate genes associated with fertility in mares. The dataset included 819 animals genotyped with the Affymetrix Axiom™ Equine 670 K single-nucleotide polymorphisms (SNPs) Genotyping Array and the deregressed breeding values for RE trait, obtained using a ssBLUP model, employed as pseudo-phenotypic data. Our results showed 28 SNPs potentially associated with RE, which explained 87.19% of the genetic variance and 6.61% of the phenotypic variance. Those results were further validated in BayesB, showing a correlation between observed and predicted RE of 0.57. In addition, 15 candidate genes (HTRA3, SPIRE1, APOE, ERCC1, FOXA3, NECTIN-2, KLC3, RSPH6A, PDPK1, MEIOB, PAQR4, NM3, PKD1, PRSS21, IFT140) previously related to fertility in mammals were associated with the markers and genomic regions significantly associated with RE. To our knowledge, this is the first genome-wide association study performed on mare fertility.

摘要

尽管繁殖力对养马业具有重要的经济意义，但人们在深入了解其控制的遗传机制方面所做的努力却很少。这可能是由于难以获得可靠的表型，以及对环境和管理因素进行建模的复杂性。这项工作的新颖之处在于，我们提议使用繁殖效率（RE）作为母马繁殖力的指标。为此，我们对西班牙纯种马进行了全基因组关联研究，旨在识别与母马繁殖力相关的基因组变异、区域和候选基因。数据集包括819只动物，它们使用Affymetrix Axiom™ 马670K单核苷酸多态性（SNP）基因分型芯片进行基因分型，并使用ssBLUP模型获得的RE性状的去回归育种值作为伪表型数据。我们的结果显示，有28个SNP可能与RE相关，它们解释了87.19%的遗传方差和6.61%的表型方差。这些结果在BayesB中得到了进一步验证，观察到的和预测的RE之间的相关性为0.57。此外，先前与哺乳动物繁殖力相关的15个候选基因（HTRA3、SPIRE1、APOE、ERCC1、FOXA3、NECTIN-2、KLC3、RSPH6A、PDPK1、MEIOB、PAQR4、NM3、PKD1、PRSS21、IFT140）与与RE显著相关的标记和基因组区域相关。据我们所知，这是首次对母马繁殖力进行的全基因组关联研究。