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Fanconi anemia, complementation group I

FANCI, Fanconi anemia complementation group I
The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group I. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: Ubiquitin, Bach1, CAN, Iris, FAA
Papers on FANCI
Cdk12 is essential for embryonic development and the maintenance of genomic stability.
Fann et al., Taipei, Taiwan. In Cell Death Differ, Jan 2016
Furthermore, the expression levels of various DNA damage response genes, namely Atr, Brca1, Fanci and Fancd2, are reduced in Cdk12(-/-) embryos.
Novel FANCI mutations in Fanconi anemia with VACTERL association.
Alter et al., Amsterdam, Netherlands. In Am J Med Genet A, Dec 2015
Autosomal recessive mutations in FANCI are a rare cause of FA.
FANCI Regulates Recruitment of the FA Core Complex at Sites of DNA Damage Independently of FANCD2.
Taniguchi et al., Minneapolis, United States. In Plos Genet, Oct 2015
The FA core complex, a multi-subunit ubiquitin ligase, participates in the detection of DNA lesions and monoubiquitinates two downstream FA proteins, FANCD2 and FANCI (or the ID complex).
Uncoupling of transcription and translation of Fanconi anemia (FANC) complex proteins during spermatogenesis.
O'Bryan et al., Australia. In Spermatogenesis, 2015
Spermatogonia and pre-leptotene spermatocytes contained the majority of the FANC components examined i.e. complex I members FANCB, FANCG and FANCM, complex II members FANCD2 and FANCI, and complex III member FANCJ.
[Retrospective NGS Study in High-risk Hereditary Cancer Patients at Masaryk Memorial Cancer Institute].
Foretová et al., In Klin Onkol, 2014
RESULTS: There were several deleterious (frame-shift/nonsense) mutations detected in ATM, BAP1, FANCC, FANCI, PMS2, SBDS, ERCC2, RECQL4 genes.
[Function of CDK12 in Tumor initiation and progression and its clinical consequences].
Kohoutek et al., In Klin Onkol, 2013
Recently, CDK12 was identified as a key factor orchestrating transcription of genes, such as BRCA1, ATM, ATR, FANCI and FANCD2, which are involved in the DNA-damage response pathway.
[The role of the Fanconi anemia pathway in DNA repair and maintenance of genome stability].
Zdzienicka et al., Laizhou, China. In Postepy Hig Med Dosw (online), 2013
Eight of them, in the presence of DNA interstrand crosslinks (ICLs), form a nuclear core complex responsible for monoubiquitination of FANCD2 and FANCI, which is a key step of ICL repair.
The Fanconi anemia ID2 complex: dueling saxes at the crossroads.
Howlett et al., United States. In Cell Cycle, 2013
A pivotal step in the activation of the FA-BRCA pathway is the monoubiquitination of the FANCD2 and FANCI proteins.
Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways.
Lunetta et al., Rotterdam, Netherlands. In Nat Genet, 2012
Candidate genes located at these newly associated loci include genes implicated in DNA repair (EXO1, HELQ, UIMC1, FAM175A, FANCI, TLK1, POLG and PRIM1) and immune function (IL11, NLRP11 and PRRC2A (also known as BAT2)).
Ubiquitylation and the Fanconi anemia pathway.
Smogorzewska et al., New York City, United States. In Febs Lett, 2011
Early steps in DNA damage dependent activation of the pathway are governed by monoubiquitylation of FANCD2 and FANCI by the intrinsic FA E3 ubiquitin ligase, FANCL.
Structure of the FANCI-FANCD2 complex: insights into the Fanconi anemia DNA repair pathway.
Pavletich et al., New York City, United States. In Science, 2011
Central to this pathway is the Fanconi anemia I-Fanconi anemia D2 (FANCI-FANCD2) (ID) complex, which is activated by DNA damage-induced phosphorylation and monoubiquitination.
Mechanism of RAD51-dependent DNA interstrand cross-link repair.
Walter et al., Boston, United States. In Science, 2011
Recombination acts downstream of FANCI-FANCD2, yet RAD51 binds ICL-stalled replication forks independently of FANCI-FANCD2 and before DSB formation.
The E3 ubiquitin ligase RAD18 regulates ubiquitylation and chromatin loading of FANCD2 and FANCI.
Kupfer et al., New Haven, United States. In Blood, 2011
These data suggest a key role for the E3 ligase activity of RAD18 in the recruitment of FANCD2 and FANCI to chromatin and the events leading to their ubiquitylation during S phase.
Regulatory functions of ubiquitin in diverse DNA damage responses.
Wouters et al., Toronto, Canada. In Curr Mol Med, 2011
This review will focus on the regulatory functions of ubiquitylation in three distinct DNA damage responses that involve ubiquitin modification of proliferating cell nuclear antigen (PCNA) in DNA damage tolerance, the core histone H2A and its variant H2AX in double strand break repair (DSBR) and the Fanconi anaemia (FA) proteins FANCD2 and FANCI in cross link repair.
Patient-derived C-terminal mutation of FANCI causes protein mislocalization and reveals putative EDGE motif function in DNA repair.
Huang et al., New York City, United States. In Blood, 2011
although proper nuclear localization of FANCI is crucial for robust FANCD2 monoubiquitination, the putative FANCI EDGE motif is important for DNA crosslink repair
FAN1 acts with FANCI-FANCD2 to promote DNA interstrand cross-link repair.
Huang et al., Hangzhou, China. In Science, 2010
study characterizes FANI which promotes DNA interstrand cross-linking repair in a manner strictly dependent on its ability to accumulate at or near sites of DNA damage and that relies on mono-ubiquitylation of the FANCI-FANCD2 complex
The Fanconi anemia pathway promotes replication-dependent DNA interstrand cross-link repair.
Walter et al., Boston, United States. In Science, 2010
A central event in the activation of the Fanconi anemia pathway is the mono-ubiquitylation of the FANCI-FANCD2 complex, but how this complex confers ICL resistance remains enigmatic.
Mutational analysis of FANCL, FANCM and the recently identified FANCI suggests that among the 13 known Fanconi Anemia genes, only FANCD1/BRCA2 plays a major role in high-risk breast cancer predisposition.
BenĂ­tez et al., Madrid, Spain. In Carcinogenesis, 2009
results rule out a major role of FANCI in familial breast cancer susceptibility
FANCI binds branched DNA and is monoubiquitinated by UBE2T-FANCL.
Sung et al., New Haven, United States. In J Biol Chem, 2009
Upon the occurrence of DNA damage, FANCI becomes monoubiquitinated on Lys-523 by the UBE2T-FANCL pair.
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