| Literature DB >> 25486561 |
Rebecca A Boisvert1, Niall G Howlett.
Abstract
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.Entities:
Keywords: AML , acute myeloid leukemia; APC/C, anaphase-promoting complex/cyclosome; APH, aphidicolin; ARM, armadillo repeat domain; AT, ataxia-telangiectasia; ATM, ataxia-telangiectasia mutated; ATR, ATM and Rad3-related; BAC, bacterial-artificial-chromosome; BS, Bloom syndrome; CUE, coupling of ubiquitin conjugation to endoplasmic reticulum degradation; ChIP-seq, CHIP sequencing; CtBP, C-terminal binding protein; CtIP, CtBP-interacting protein; DNA interstrand crosslink repair; DNA repair; EPS15, epidermal growth factor receptor pathway substrate 15; FA, Fanconi anemia; FAN1, FANCD2-associated nuclease1; FANCD2; FANCI; FISH, fluorescence in situ hybridization; Fanconi anemia; HECT, homologous to E6-AP Carboxy Terminus; HJ, Holliday junction; HR, homologous recombination; MCM2-MCM7, minichromosome maintenance 2–7; MEFs, mouse embryonic fibroblasts; MMC, mitomycin C; MRN, MRE11/RAD50/NBS1; NLS, nuclear localization signal; PCNA, proliferating cell nuclear antigen; PIKK, phosphatidylinositol-3-OH-kinase-like family of protein kinases; PIP-box, PCNA-interacting protein motif; POL κ, DNA polymerase κ; RACE, rapid amplification of cDNA ends; RING, really interesting new gene; RTK, receptor tyrosine kinase; SCF, Skp1/Cullin/F-box protein complex; SCKL1, seckel syndrome; SILAC, stable isotope labeling with amino acids in cell culture; SLD1/SLD2, SUMO-like domains; SLIM, SUMO-like domain interacting motif; TIP60, 60 kDa Tat-interactive protein; TLS, Translesion DNA synthesis; UAF1, USP1-associated factor 1; UBD, ubiquitin-binding domain; UBZ, ubiquitin-binding zinc finger; UFB, ultra-fine DNA bridges; UIM, ubiquitin-interacting motif; ULD, ubiquitin-like domain; USP1, ubiquitin-specific protease 1; VRR-nuc, virus-type replication repair nuclease; iPOND, isolation of proteins on nascent DNA; ubiquitin
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Year: 2014 PMID： 25486561 PMCID： PMC4612647 DOI： 10.4161/15384101.2014.956475
Source DB: PubMed Journal: Cell Cycle ISSN： 1551-4005 Impact factor: 4.534