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在心血管健康的猫中建立一个强大的基因测序和基因表达数据库。

Establishing a robust genetic sequencing and gene expression data library in cardiovascularly healthy cats.

作者信息

Kaplan Joanna L, Rivas Victor N, Wouters Jalena R, Vandewege Michael W, Harris Samantha P, Stern Joshua A

机构信息

Department of Medicine and Epidemiology, School of Veterinary Medicine, University of California-Davis, Davis, CA, 95616, USA.

Feline Health Center, College of Veterinary Medicine, North Carolina State University, Raleigh, NC, 27607, USA.

出版信息

Sci Rep. 2025 Jul 1;15(1):22051. doi: 10.1038/s41598-025-05704-8.

Abstract

Cardiovascular disease is a leading cause of increased morbidity and mortality in cats, with hypertrophic cardiomyopathy (HCM) significantly overrepresented. While feline HCM is hereditary, the genetic etiology of disease remains poorly understood. Establishing a cohort of well-phenotyped and -genotyped healthy control cats is essential to fuel future genetic/pharmacogenetic discoveries. We sought to construct a robust genetic sequencing and gene expression library from cardiovascularly healthy cats using whole genome sequencing (WGS) and RNA sequencing (RNA-Seq). Fifty-four client-owned cats (≥ 10 years) were screened, of which 18 cats (cohort 1) were prospectively enrolled after being deemed cardiovascularly healthy by clinicopathology, biochemistry, and echocardiography. DNA isolated from blood samples was submitted for paired-end WGS at ~ 30X coverage. Standard pipelines were employed for variant calling across sequenced cats. A second cohort of 15 purpose-bred cats were euthanized for non-cardiac reasons. Flash-frozen left ventricular (LV), interventricular septum (IVS), and left atrium (LA) tissues from 11, 14, and 13 cats, respectively, were submitted for stranded mature RNA-Seq at 50 million reads/sample. Gene variants and expression profiling were catalogued for both meticulously selected cohorts. Transcriptomic and WGS data libraries were generated to serve as an open-access resource in future investigations of feline cardiovascular precision medicine.

摘要

心血管疾病是猫发病率和死亡率上升的主要原因,肥厚型心肌病(HCM)的占比尤为显著。虽然猫的HCM具有遗传性,但该病的遗传病因仍知之甚少。建立一组表型和基因型明确的健康对照猫对于推动未来的遗传/药物遗传学发现至关重要。我们试图使用全基因组测序(WGS)和RNA测序(RNA-Seq),从心血管健康的猫中构建一个强大的基因测序和基因表达文库。对54只客户拥有的猫(≥10岁)进行了筛查,其中18只猫(队列1)在经临床病理学、生物化学和超声心动图检查被判定为心血管健康后被前瞻性纳入研究。从血液样本中分离出的DNA被提交用于约30X覆盖度的双端WGS。采用标准流程对测序猫进行变异检测。第二组15只定向培育的猫因非心脏原因实施安乐死。分别从11只、14只和13只猫中采集的速冻左心室(LV)、室间隔(IVS)和左心房(LA)组织样本被提交用于每个样本5000万读数的链特异性成熟RNA-Seq。对精心挑选的两组猫的基因变异和表达谱进行了编目。生成了转录组和WGS数据库,作为未来猫心血管精准医学研究的开放获取资源。

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