Boisvert Rebecca A, Howlett Niall G
a Department of Cell and Molecular Biology ; University of Rhode Island ; Kingston , RI USA.
Cell Cycle. 2014;13(19):2999-3015. doi: 10.4161/15384101.2014.956475.
Fanconi anemia (FA) is a rare recessive genetic disease characterized by congenital abnormalities, bone marrow failure and heightened cancer susceptibility in early adulthood. FA is caused by biallelic germ-line mutation of any one of 16 genes. While several functions for the FA proteins have been ascribed, the prevailing hypothesis is that the FA proteins function cooperatively in the FA-BRCA pathway to repair damaged DNA. A pivotal step in the activation of the FA-BRCA pathway is the monoubiquitination of the FANCD2 and FANCI proteins. Despite their importance for DNA repair, the domain structure, regulation, and function of FANCD2 and FANCI remain poorly understood. In this review, we provide an overview of our current understanding of FANCD2 and FANCI, with an emphasis on their posttranslational modification and common and unique functions.
范可尼贫血(FA)是一种罕见的隐性遗传病,其特征为先天性异常、骨髓衰竭以及成年早期患癌易感性增加。FA由16个基因中任何一个的双等位基因种系突变引起。虽然已经赋予了FA蛋白多种功能,但普遍的假说是FA蛋白在FA-BRCA途径中协同作用以修复受损DNA。FA-BRCA途径激活的关键步骤是FANCD2和FANCI蛋白的单泛素化。尽管它们对DNA修复很重要,但FANCD2和FANCI的结构域结构、调控和功能仍知之甚少。在这篇综述中,我们概述了目前对FANCD2和FANCI的理解,重点是它们的翻译后修饰以及共同和独特的功能。