与Notch信号有关的人类疾病:黑腹果蝇的启示

IF 3.3 Q2 BIOCHEMISTRY & MOLECULAR BIOLOGY Frontiers in bioscience (Landmark edition) Pub Date : 2024-06-25 DOI:10.31083/j.fbl2906234
Marvel Megaly, Anel Turgambayeva, Ryan D Hallam, Gregory Foran, Mark Megaly, Aleksandar Necakov
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引用次数: 0

摘要

黑腹果蝇一直被用作一种模式系统,用于鉴定和描述遗传对发育和体内平衡的影响,并研究多种人类疾病的分子决定因素。虽然果蝇和人类在遗传、结构和分子水平上存在许多差异,但许多信号元件和细胞机制是相同的。因此,果蝇可以并已被广泛用于模拟和研究人类病症。广泛的遗传资源使果蝇成为一个强大的模型系统。多年来,果蝇遗传工具包的复杂性和快速扩展性为研究遗传因素对人类疾病的影响提供了宝贵的新见解。Notch信号的活性在发育过程中至关重要,在整个后生动物中都是保守的,并且与许多人类疾病有关。在这里,我们将重点举例说明在黑腹果蝇中模拟人类疾病(包括神经退行性疾病、先天性疾病、多种癌症和心脏疾病)所阐明的涉及 Notch 信号的机制。
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Human Diseases Associated with Notch Signalling: Lessons from Drosophila melanogaster.

Drosophila melanogaster has been used as a model system to identify and characterize genetic contributions to development, homeostasis, and to investigate the molecular determinants of numerous human diseases. While there exist many differences at the genetic, structural, and molecular level, many signalling components and cellular machineries are conserved between Drosophila and humans. For this reason, Drosophila can and has been used extensively to model, and study human pathologies. The extensive genetic resources available make this model system a powerful one. Over the years, the sophisticated and rapidly expanding Drosophila genetic toolkit has provided valuable novel insights into the contribution of genetic components to human diseases. The activity of Notch signalling is crucial during development and conserved across the Metazoa and has been associated with many human diseases. Here we highlight examples of mechanisms involving Notch signalling that have been elucidated from modelling human diseases in Drosophila melanogaster that include neurodegenerative diseases, congenital diseases, several cancers, and cardiac disorders.

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