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利用马匹形态特征主成分进行基因组关联分析:鉴定与骨骼生长相关的基因

Genomic association using principal components of morphometric traits in horses: identification of genes related to bone growth.

作者信息

Bastos Marisa Silva, Solar Diaz Iara Del Pilar, Alves Jackeline Santos, de Oliveira Louise Sarmento Martins, de Araújo de Oliveira Chiara Albano, de Godói Fernanda Nascimento, de Camargo Gregório Miguel Ferreira, Costa Raphael Bermal

机构信息

Escola de Medicina Veterinária e Zootecnia, Universidade Federal da Bahia (UFBA), Salvador, Brazil.

Instituto de Zootecnia, Universidade Federal Rural do Rio de Janeiro (UFRRJ), Seropédica, Brazil.

出版信息

Anim Biotechnol. 2023 Dec;34(9):4921-4926. doi: 10.1080/10495398.2023.2209795. Epub 2023 May 15.

Abstract

The measurement of morphometric traits in horses is important for determining breed qualification and is one of the main selection criteria for the species. The development of an index (HPC) that consists of principal components weighted by additive genetic values allows to explore the most relevant relationships using a reduced number of variables that explain the greatest amount of variation in the data. Genome-wide association studies (GWAS) using HPC are a relatively new approach that permits to identify regions related to a set of traits. The aim of this study was to perform GWAS using HPC for 15 linear measurements as the explanatory variable in order to identify associated genomic regions and to elucidate the biological mechanisms linked to this index in Campolina horses. For GWAS, weighted single-step GBLUP was applied to HPC. The eight genomic windows that explained the highest proportion of additive genetic variance were identified. The sum of the additive variance explained by the eight windows was 95.89%. Genes involved in bone and cartilage development were identified ( and ). They represent potential positional candidates for the HPC of the linear measurements evaluated. The HPC is an efficient alternative to reduce the 15 usually measured traits in Campolina horses. Moreover, candidate genes inserted in region that explained high additive variance of the HPC were identified and might be fine-mapped for searching putative mutation/markers.

摘要

马匹形态特征的测量对于确定品种资格很重要,并且是该物种的主要选择标准之一。开发一种由加性遗传值加权的主成分组成的指数(HPC),可以使用较少数量的变量来探索最相关的关系,这些变量能够解释数据中最大量的变异。使用HPC的全基因组关联研究(GWAS)是一种相对较新的方法,它能够识别与一组性状相关的区域。本研究的目的是使用HPC对15项线性测量作为解释变量进行GWAS,以识别相关的基因组区域,并阐明坎波拉马中与该指数相关的生物学机制。对于GWAS,将加权单步GBLUP应用于HPC。确定了解释加性遗传方差比例最高的八个基因组窗口。这八个窗口解释的加性方差总和为95.89%。鉴定出了参与骨骼和软骨发育的基因(和)。它们代表了所评估的线性测量的HPC的潜在位置候选基因。HPC是减少坎波拉马通常测量的15个性状的一种有效替代方法。此外,还鉴定出了插入到解释HPC高加性方差区域的候选基因,并且可能对其进行精细定位以寻找推定的突变/标记。

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