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Candidate gene expression and coding sequence variants in Warmblood horses with myofibrillar myopathy.

患有肌原纤维肌病的温血马的候选基因表达和编码序列变异。

  • 影响因子:1.86
  • DOI:10.1111/evj.13286
  • 作者列表:"Williams ZJ","Velez-Irizarry D","Petersen JL","Ochala J","Finno CJ","Valberg SJ
  • 发表时间:2021-03-01
Abstract

BACKGROUND:Myofibrillar myopathy (MFM) of unknown aetiology has recently been identified in Warmblood (WB) horses. In humans, 16 genes have been implicated in various MFM-like disorders. OBJECTIVES:To identify variants in 16 MFM candidate genes and compare allele frequencies of all variants between MFM WB and non-MFM WB and coding variants with moderate or severe predicted effects in MFM WB with publicly available data of other breeds. To compare differential gene expression and muscle fibre contractile force between MFM and non-MFM WB. STUDY DESIGN:Case-control. ANIMALS:8 MFM WB, 8 non-MFM WB, 33 other WB, 32 Thoroughbreds, 80 Quarter Horses and 77 horses of other breeds in public databases. METHODS:Variants were called within transcripts of 16 candidate genes using gluteal muscle mRNA sequences aligned to EquCab3.0 and allele frequencies compared by Fisher's exact test among MFM WB, non-MFM WB and public sequences across breeds. Candidate gene differential expression was determined between MFM and non-MFM WB by fitting a negative binomial generalised log-linear model per gene (false discovery rate <0.05). The maximal isometric force/cross-sectional area generated by isolated membrane-permeabilised muscle fibres was determined. RESULTS:None of the 426 variants identified in 16 candidate genes were associated with MFM including 26 missense variants. Breed-specific differences existed in allele frequencies. Candidate gene differential expression and muscle fibre-specific force did not differ between MFM WB (143.1 ± 34.7 kPa) and non-MFM WB (140.2 ± 43.7 kPa) (P = .8). MAIN LIMITATIONS:RNA-seq-only assays transcripts expressed in skeletal muscle. Other possible candidate genes were not evaluated. CONCLUSIONS:Evidence for association of variants with a disease is essential because coding sequence variants are common in the equine genome. Variants identified in MFM candidate genes, including two coding variants offered as commercial MFM equine genetic tests, did not associate with the WB MFM phenotype.

摘要

背景: 最近在温血 (WB) 马中发现了病因不明的肌原纤维肌病 (MFM)。在人类中,16个基因与各种MFM样病症有关。 目的: 鉴定16个MFM候选基因中的变异,并将MFM WB和非MFM WB之间所有变异的等位基因频率以及MFM WB中具有中度或重度预测效应的编码变异与其他品种的公开数据进行比较。比较MFM与非MFM WB基因表达和肌纤维收缩力的差异。 研究设计: 病例对照。 动物: 8个MFM WB,8个非MFM WB,33个其他WB,32个纯种马,80个四分之一马和77个其他品种的马在公共数据库中。 方法: 使用与EquCab3.0比对的臀肌mRNA序列,在16个候选基因的转录本中调用变体,并通过Fisher精确检验在MFM WB、非MFM WB和跨品种的公共序列中比较等位基因频率。通过拟合每个基因的负二项式广义对数线性模型 (错误发现率 <0.05),确定MFM和非MFM WB之间的候选基因差异表达。测定由分离的膜透化肌纤维产生的最大等距力/横截面积。 结果: 在16个候选基因中鉴定的426个变体中没有一个与MFM相关,包括26个错义变体。等位基因频率存在品种特异性差异。候选基因差异表达和肌纤维特异性力在MFM WB (143.1 ± 34.7 kPa) 和非MFM WB (140.2 ± 43.7 kPa) 之间没有差异 (P = .8)。 主要局限性: 仅RNA-seq测定在骨骼肌中表达的转录物。未评估其他可能的候选基因。 结论: 变异与疾病关联的证据是必不可少的,因为编码序列变异在马基因组中是常见的。在MFM候选基因中鉴定的变体,包括作为商业MFM马遗传测试提供的两个编码变体,与WB MFM表型不相关。

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