Modelling human genetic disorders in Xenopus tropicalis.

IF 4 3区 医学 Q2 CELL BIOLOGY
Disease Models & Mechanisms Pub Date : 2024-05-01 Epub Date: 2024-06-04 DOI:10.1242/dmm.050754
Helen Rankin Willsey, Eleanor G Seaby, Annie Godwin, Sarah Ennis, Matthew Guille, Robert M Grainger
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引用次数: 0

Abstract

Recent progress in human disease genetics is leading to rapid advances in understanding pathobiological mechanisms. However, the sheer number of risk-conveying genetic variants being identified demands in vivo model systems that are amenable to functional analyses at scale. Here we provide a practical guide for using the diploid frog species Xenopus tropicalis to study many genes and variants to uncover conserved mechanisms of pathobiology relevant to human disease. We discuss key considerations in modelling human genetic disorders: genetic architecture, conservation, phenotyping strategy and rigour, as well as more complex topics, such as penetrance, expressivity, sex differences and current challenges in the field. As the patient-driven gene discovery field expands significantly, the cost-effective, rapid and higher throughput nature of Xenopus make it an essential member of the model organism armamentarium for understanding gene function in development and in relation to disease.

在热带爪蟾中模拟人类遗传疾病。
人类疾病遗传学的最新进展使人们对病理生物学机制的认识突飞猛进。然而,大量风险遗传变异的发现需要能够进行大规模功能分析的体内模型系统。在此,我们提供了一份实用指南,指导如何利用二倍体蛙类热带爪蟾来研究许多基因和变体,从而发现与人类疾病相关的保守病理生物学机制。我们讨论了人类遗传疾病建模的主要考虑因素:遗传结构、保护、表型策略和严谨性,以及更复杂的主题,如穿透性、表达性、性别差异和该领域当前面临的挑战。随着以患者为导向的基因发现领域的大幅扩展,章鱼的低成本、快速和高通量特性使其成为了解发育过程中以及与疾病相关的基因功能的模型生物中不可或缺的一员。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Disease Models & Mechanisms
Disease Models & Mechanisms 医学-病理学
CiteScore
6.60
自引率
7.00%
发文量
203
审稿时长
6-12 weeks
期刊介绍: Disease Models & Mechanisms (DMM) is an online Open Access journal focusing on the use of model systems to better understand, diagnose and treat human disease.
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