当前位置: X-MOL 学术J. Biomed. Sci. › 论文详情
Our official English website, www.x-mol.net, welcomes your feedback! (Note: you will need to create a separate account there.)
Rat models of human diseases and related phenotypes: a systematic inventory of the causative genes.
Journal of Biomedical Science ( IF 11.0 ) Pub Date : 2020-08-02 , DOI: 10.1186/s12929-020-00673-8
Claude Szpirer 1, 2
Affiliation  

The laboratory rat has been used for a long time as the model of choice in several biomedical disciplines. Numerous inbred strains have been isolated, displaying a wide range of phenotypes and providing many models of human traits and diseases. Rat genome mapping and genomics was considerably developed in the last decades. The availability of these resources has stimulated numerous studies aimed at discovering causal disease genes by positional identification. Numerous rat genes have now been identified that underlie monogenic or complex diseases and remarkably, these results have been translated to the human in a significant proportion of cases, leading to the identification of novel human disease susceptibility genes, helping in studying the mechanisms underlying the pathological abnormalities and also suggesting new therapeutic approaches. In addition, reverse genetic tools have been developed. Several genome-editing methods were introduced to generate targeted mutations in genes the function of which could be clarified in this manner [generally these are knockout mutations]. Furthermore, even when the human gene causing a disease had been identified without resorting to a rat model, mutated rat strains (in particular KO strains) were created to analyze the gene function and the disease pathogenesis. Today, over 350 rat genes have been identified as underlying diseases or playing a key role in critical biological processes that are altered in diseases, thereby providing a rich resource of disease models. This article is an update of the progress made in this research and provides the reader with an inventory of these disease genes, a significant number of which have similar effects in rat and humans.

中文翻译:

人类疾病和相关表型的大鼠模型:致病基因的系统清单。

实验室大鼠作为多种生物医学学科的首选模型已经使用了很长时间。已经分离出许多自交系,表现出广泛的表型,并提供了许多人类特征和疾病的模型。在最近的几十年中,大鼠基因组图谱和基因组学得到了很大的发展。这些资源的可获得性刺激了许多旨在通过位置鉴定发现致病基因的研究。现在已经鉴定出许多是单基因或复杂疾病基础的大鼠基因,并且值得注意的是,这些结果已在相当多的情况下转化为人类,从而导致了人类疾病易感性新基因的鉴定,有助于研究病理基础异常,并提出新的治疗方法。另外,已经开发了反向遗传工具。引入了几种基因组编辑方法以在基因中产生靶向突变,可以通过这种方式阐明其功能[通常是敲除突变]。此外,即使当不依靠大鼠模型就已经鉴定出引起疾病的人基因时,也产生了突变的大鼠品系(特别是KO品系)来分析基因功能和疾病发病机理。如今,已鉴定出350多种大鼠基因为基础疾病,或在疾病中改变的关键生物学过程中起着关键作用,从而提供了丰富的疾病模型资源。本文是对这项研究进展的更新,为读者提供了这些疾病基因的清单,
更新日期:2020-08-02
down
wechat
bug