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对赛马夸特马中鉴定变异的外显子组分析和功能分类。

Exome analysis and functional classification of identified variants in racing Quarter Horses.

机构信息

Department of Animal Breeding and Nutrition, College of Veterinary and Animal Science, São Paulo State University, Rubião Junior District, Botucatu, São Paulo, 18618-970, Brazil.

Department of Parasitology, Institute of Biosciences, São Paulo State University, Rubião Junior District, Botucatu, São Paulo, 18618-970, Brazil.

出版信息

Anim Genet. 2020 Oct;51(5):716-721. doi: 10.1111/age.12976. Epub 2020 Jul 21.

DOI:10.1111/age.12976
PMID:32696541
Abstract

The main objectives of this study were to identify and functionally classify SNPs and indels by exome sequencing of animals of the racing line of Quarter Horses. Based on the individual genomic estimated breeding values (GEBVs) for maximum speed index (SImax) obtained for 349 animals, two groups of 20 extreme animals were formed. Of these individuals, 20 animals with high GEBVs for SImax and 19 with low GEBVs for SImax had their exons and 5' and 3' UTRs sequenced. Considering SNPs and indels, 105 182 variants were identified in the expressed regions of the Quarter Horse genome. Of these, 72 166 variants were already known and 33 016 are new variants and were deposited in a database. The analysis of the set of gene variants significantly related (P  < 0.05) to extreme animals in conjunction with the predicted impact of the changes and the physiological role of protein product pointed to two candidate genes potentially related to racing performance: SLC3A1 on ECA15 and CCN6 on ECA10.

摘要

本研究的主要目的是通过对赛马品种夸特马的外显子组测序,鉴定和功能分类 SNP 和 indel。基于 349 头动物的最大速度指数(SImax)的个体基因组估计育种值(GEBV),形成了两组 20 头极端动物。从这些个体中,对 SImax 的 GEBV 较高的 20 头动物和 SImax 的 GEBV 较低的 19 头动物的外显子和 5'和 3'UTR 进行了测序。考虑到 SNP 和 indel,在夸特马基因组的表达区域中鉴定出了 105182 个变体。其中,72166 个变体是已知的,33016 个是新变体,并已存入数据库。与极端动物显著相关(P<0.05)的基因变体集的分析,以及对变化的预测影响和蛋白质产物的生理作用的分析,指向了两个潜在与赛马性能相关的候选基因:ECA15 上的 SLC3A1 和 ECA10 上的 CCN6。

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