与复制和修复蛋白突变相关的疾病。

Diseases Associated with Mutation of Replication and Repair Proteins.

机构信息

St Georges University London, London, UK.

出版信息

Adv Exp Med Biol. 2018;1076:215-234. doi: 10.1007/978-981-13-0529-0_12.

Abstract

Alterations in proteins that function in DNA replication and repair have been implicated in the development of human diseases including cancer, premature ageing, skeletal disorders, mental retardation, microcephaly, and neurodegeneration. Drosophila has orthologues of most human replication and repair proteins and high conservation of the relevant cellular pathways, thus providing a versatile system in which to study how these pathways are corrupted leading to the diseased state. In this chapter I will briefly review the diseases associated with defects in replication and repair proteins and discuss how past and future studies on the Drosophila orthologues of such proteins can contribute to the dissection of the mechanisms involved in disease development.

摘要

在人类疾病的发展中，包括癌症、早衰、骨骼疾病、智力迟钝、小头畸形和神经退行性疾病等，都涉及到在 DNA 复制和修复中发挥作用的蛋白质的改变。果蝇具有大多数人类复制和修复蛋白的同源物，并且相关细胞途径的高度保守，因此为研究这些途径如何被破坏导致疾病状态提供了一个多功能的系统。在本章中，我将简要回顾与复制和修复蛋白缺陷相关的疾病，并讨论过去和未来对这些蛋白的果蝇同源物的研究如何有助于剖析疾病发展涉及的机制。