Topic
FANCE
About: FANCE is a research topic. Over the lifetime, 48 publications have been published within this topic receiving 2568 citations. The topic is also known as: FACE & FAE.
Papers
TL;DR: It is shown that the recently identified FANCE protein is part of this nuclear complex, binding both FANCC and FANCD2, and provides a critical bridge between the FA complex and F ANCD2.
Abstract: The Fanconi anaemia (FA) nuclear complex (composed of the FA proteins A, C, G and F) is essential for protection against chromosome breakage. It activates the downstream protein FANCD2 by monoubiquitylation; this then forges an association with the BRCA1 protein at sites of DNA damage. Here we show that the recently identified FANCE protein is part of this nuclear complex, binding both FANCC and FANCD2. Indeed, FANCE is required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2. Disease-associated FANCC mutants do not bind to FANCE, cannot accumulate in the nucleus and are unable to prevent chromosome breakage.
168 citations
TL;DR: It is demonstrated that retroviral transduction of Fanconi anemia subtype E (FA-E) cells with the FANCE cDNA restores the nuclear accumulation of FANCC protein, FANCA-FANCC complex formation, monoubiquitination and nuclear foci formation of FANSCD2, and mitomycin C resistance.
88 citations
Journal Article•
TL;DR: The results indicate that FA gene mutations, other than in BRCA2, are unlikely to be a frequent cause of highly penetrant breast cancer predisposition.
Abstract: Fanconi Anemia (FA) is an autosomal recessive syndrome characterized by congenital abnormalities, progressive bone marrow failure, and susceptibility to cancer FA has eight known complementation groups and is caused by mutations in at least seven genes Biallelic BRCA2 mutations were shown recently to cause FA-D1 Monoallelic (heterozygous) BRCA2 mutations confer a high risk of breast cancer and are a major cause of familial breast cancer To investigate whether heterozygous variants in other FA genes are high penetrance breast cancer susceptibility alleles, we screened germ-line DNA from 88 BRCA1/2-negative families, each with at least three cases of breast cancer, for mutations in FANCA, FANCC, FANCD2, FANCE, FANCF, and FANCG Sixty-nine sequence variants were identified of which 25 were exonic None of the exonic variants resulted in translational frameshifts or nonsense codons and 14 were polymorphisms documented previously Of the remaining 11 exonic variants, 2 resulted in synonymous changes, and 7 were present in controls Only 2 conservative missense variants, 1 in FANCA and 1 in FANCE, were each found in a single family and were not present in 300 controls The results indicate that FA gene mutations, other than in BRCA2, are unlikely to be a frequent cause of highly penetrant breast cancer predisposition
84 citations
TL;DR: To investigate the architecture of the FA protein complex, the yeast 2-hybrid system was used to map contact points of the FANCA/FANCG, FANCC/FANCE, and FANCF/FancG interactions and the ability of FANCG to act as a molecular bridge in mediating interaction between other FA proteins was investigated.
78 citations
TL;DR: It is demonstrated that FANCF acts as a flexible adaptor protein that plays a key role in the proper assembly of the FA core complex and does not have a ROM-like function.
76 citations
Related Topics (5)
Performance Metrics
| Year | Papers |
|---|---|
| 2021 | 2 |
| 2020 | 2 |
| 2017 | 1 |
| 2016 | 4 |
| 2015 | 2 |
| 2014 | 2 |