FANCF

Official Full Name

FA complementation group F

Organism

Homo sapiens

Gene ID

2188

Background

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 F. [provided by RefSeq, Jul 2008]

Synonyms

FAF

Cat.No.	Product Name	Price
CSC-DC005525	Panoply™ Human FANCF Knockdown Stable Cell Line	Inquiry
CSC-SC005525	Panoply™ Human FANCF Over-expressing Stable Cell Line	Inquiry

Cat.No.	Product Name	Price
AD06045Z	Human FANCF adenoviral particles	Inquiry
LV12565L	human FANCF (NM_022725) lentivirus particles	Inquiry

Cat.No.	Product Name	Price
SHH048989	shRNA set against Human FANCF(NM_022725.3)	Inquiry
SHH292317	shRNA set against Mouse FANCF (NM_001115087.1)	Inquiry
SHW010134	shRNA set against Danio rerio FANCF (NM_001045234)	Inquiry

Cat.No.	Product Name	Price
CDFG019318	Mouse Fancf cDNA Clone(NM_001115087.1)	Inquiry
MiUTR1H-03509	FANCF miRNA 3'UTR clone	Inquiry
CDCB171609	Danio rerio FANCF ORF Clone (NM_001045234)	Inquiry
CDCB193245	Rabbit FANCF ORF clone (XM_002709202.2)	Inquiry
CDCR063784	Mouse Fancf ORF clone (NM_001115087.1)	Inquiry

Detailed Information

FANCF methylation benefits chemo selectivity in ovarian cancer

Linkages between the abnormality of FANCF promoter methylation and gene silencing and disruption of the Fanconi-anemia-BRCA pathway have been revealed in a new model of ovarian cancer tumor. Selective sensitivity to platinum salts may occur in ovarian cancers due to disruptions of those pathways. Cumulative gene variance in ovarian cancer makes it more prone to evading chemotherapeutic drugs, and become increasingly dangerous.

Recent research describes that initial methylation of FANCF is Fanconi anemia associated, and it is one of seven newly cloned Fanconi anemia genes whose proteins were involved in interacting with DNA repair functional proteins, including BRCA1, RAD51, ATM, and NBS1. Two isoforms of FANCD2, defined as nonubiquitinated FANCD2-S and monoubiquitinated FANCD2 respectively, exist in normal cells. Taniguch screened 25 ovarian cancer cell lines with different sensitivities to CDDP, two cell lines within which, 2008 and TOV-21G, without FANCD2-L isoform, and shown a half maximal inhibitory concentration (IC50) less than 1.0 μm CDDP, which is hypersensitive to CDDP. Retrovirally transduction with FANC cDNA into TOV-21G cells was managed to correct the abnormalities in upstream of FANCD2 in the FA-BRCA pathway. But only FANCF was found to be capable of correcting FANCD2 monoubiquitylation defection in transfected cells. Resistance to MMC and CDDP happened in FANCF-corrected TOV-21G cells, and it is not mightily attributed to FANCF gene mutations 1 but dense methylation of its promoter. C13*, derivative cell line of 2008, containing low level of FANCF, and OAW42, a cell line derived from ascites of a CDDP exposed women patient, those two listed cell lines were methylated both.

The level of FANCF mRNA expression and monoubiquitin of FANCD2 was maintained by demethylating agent 5-aza-2'-deoxycytidine treatment in C13*, then it became less sensitive to CDPP. 8% established ovarian cancer cell lines and 20% primary ovarian cancers have shown hypermethylation at FANCF gene promoter, and whether the phenomenon was bi-allelic caused or the consequences of gross chromosomal deletion or loss of heterozygosity (LOH) has not been figured out till now.

Autosomal recessive Fanconi anemia caused by frame-shift deletion in FANCF

Fanconi anemia (FA) is a heterogeneous genetic disorder disease with congenital malformations, early-onset bone marrow failure, and high susceptibility to malignancies for its genomic instability. And it may be the result of disease-inducing FANC genes mutation. A pair of genes encoded by FANC genes have some influences on pathway of DNA-damage repair through interactions with other proteins. 22 FANC genes have been identified as FANCA mutated products, also known as hyper-mutable genes, were reported to be main genetic roots of FA patients. Pathogenetic mutations of FANCF accounted for only 2 to 3% of the affected individuals, and short deletion resulted in frame-shifts throughout the single coding exon of FANC gene along with premature termination of the protein, which has been reported as main disease-associated mutations.

References:

Olufunmilayo Olopade, Minjie Wei. (2003) 'FANCF methylation contributes to chemoselectivity in ovarian cancer', Cancer cell, doi: 10.1016/s1535-6108(03)00111-9.
Soheila Zareifar, Hassan Dastsooz, Mahdi Shahriari. (2019) 'A novel frame-shift deletion in FANCF gene causing autosomal recessive Fanconi anemia: a case report'. BMC Medical Genetics, doi: 10.1186/s12881-019-0855-2.

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