Fanconi anemia C gene product plays a role in the fidelity of blunt DNA end-joining

Journal of Molecular Biology
M EscarcellerDora Papadopoulo

Abstract

Mutations in genes controlling the correct functioning of the replicative, repair and recombination machineries may lead to genomic instability. A high level of spontaneous chromosomal aberrations amplified by treatment with DNA cross-linking agents is the hallmark of Fanconi anemia (FA), an inherited chromosomal instability syndrome associated with cancer proneness. Two of the eight FA genes have been cloned (FAA and FAC), but their function has not yet been defined. The lack of homology with known genes suggests the involvement of FA genes in a novel pathway specific to vertebrates. Using a DNA end-joining assay in cultured cells, we studied the processing of both blunt and cohesive-ended double strand breaks (DSB) in normal and FA cells. The results show that: (i) the overall ligation efficiency is normal in FA lymphoblasts; (ii) in FA-C, error-free processing of blunt-ended DSB is markedly decreased, resulting in a higher deletion frequency and larger deletion size; (iii) the fidelity of processing of blunt-DSB is completely restored in FACC cells (complemented with wild-type FAC gene) and the deletion size shifted to values similar to that observed in normal cells; (iv) the fidelity of cohesive end-joining is not affected ...Continue Reading

References

Nov 24, 1979·Nucleic Acids Research·H C Birnboim, J Doly
Jun 1, 1992·Nature Genetics·C A StrathdeeM Buchwald
Oct 1, 1992·Molecular and Cellular Biology·J HarringtonM R Lieber
Nov 1, 1990·Proceedings of the National Academy of Sciences of the United States of America·D PapadopouloE Moustacchi
Jan 1, 1985·Somatic Cell and Molecular Genetics·G Duckworth-RysieckiM Buchwald
Jul 1, 1985·Mutation Research·C L CrespiW G Thilly
Nov 1, 1995·Nature Genetics·M Buchwald
Jun 1, 1993·Human Molecular Genetics·R WevrickM Buchwald
Jan 3, 1995·Proceedings of the National Academy of Sciences of the United States of America·N J FinnieS P Jackson
Oct 1, 1995·Trends in Biochemical Sciences·S P Jackson, P A Jeggo
Jun 14, 1996·The Journal of Biological Chemistry·F Liang, M Jasin
Jun 25, 1996·Biochemical and Biophysical Research Communications·J M LiuC E Walsh
Nov 1, 1996·Nature Genetics·A D D'Andrea
Nov 1, 1996·Nature Genetics·J R Lo Ten FoeH Joenje
Nov 1, 1996·Nature Genetics·UNKNOWN Fanconi anaemia/Breast cancer consortium
Jan 15, 1997·The EMBO Journal·B MichelM Uzest
Mar 1, 1997·Molecular and Cellular Biology·B K SingletonP A Jeggo
Jul 22, 1997·Proceedings of the National Academy of Sciences of the United States of America·Y GuF W Alt
Aug 1, 1997·Current Biology : CB·S E CritchlowS P Jackson
Oct 23, 1997·American Journal of Human Genetics·H JoenjeF Arwert
Dec 17, 1997·Nature Genetics·G M KupferA D D'Andrea

❮ Previous
Next ❯

Citations

Dec 1, 2001·Nucleic Acids Research·J SmithD Papadopoulo
Apr 12, 2003·Nucleic Acids Research·Julianne SmithPenny Jeggo
Oct 25, 2003·Nucleic Acids Research·Rosine Onclercq-DelicMounira Amor-Guéret
Jun 17, 2004·Nucleic Acids Research·Sarah L Donahue, Colin Campbell
Apr 11, 2007·Molecular and Cellular Biology·A SobeckM E Hoatlin
Jan 15, 2003·Journal of Medical Genetics·M D Tischkowitz, S V Hodgson
May 5, 2004·Proceedings of the National Academy of Sciences of the United States of America·Andrei SeluanovVera Gorbunova
Jan 15, 2005·Proceedings of the National Academy of Sciences of the United States of America·Koji NakanishiMaria Jasin
Jul 9, 2004·British Journal of Haematology·Marc Tischkowitz, Inderjeet Dokal
Mar 10, 2001·Molecular Cell·I Garcia-HigueraA D D'Andrea
Aug 22, 2000·Genesis : the Journal of Genetics and Development·J J Nadler, R E Braun
Sep 4, 2001·International Journal of Hematology·T Yamashita, T Nakahata
Apr 10, 2002·International Journal of Hematology·Toshiyasu Taniguchi, Alan D Dandrea
May 10, 2002·BioEssays : News and Reviews in Molecular, Cellular and Developmental Biology·Shamim I AhmadSandra H Kirk
Jun 5, 2001·Nature Reviews. Genetics·H Joenje, K J Patel
Jan 2, 2003·Nature Reviews. Cancer·Alan D D'Andrea, Markus Grompe
Oct 4, 2002·The Journal of Biological Chemistry·Sarah L Donahue, Colin Campbell
May 16, 2003·The Journal of Biological Chemistry·Sarah L DonahueColin Campbell
Aug 24, 2005·Médecine sciences : M/S·Dora Papadopoulo, Ethel Moustacchi
Apr 26, 2005·The Journal of Biological Chemistry·Woo-Hyun ParkJeffrey D Parvin
Jan 2, 2001·The Journal of Biological Chemistry·R LundbergC Campbell
Jun 22, 1999·Molecular and Cellular Biology·I Garcia-HigueraA D D'Andrea
Dec 26, 2001·Molecular Genetics and Metabolism·Y M AkkariM Grompe
Oct 26, 1999·Biochemical and Biophysical Research Communications·M H RamirezM Schweiger
Aug 28, 1998·Journal of Molecular Biology·J SmithD Papadopoulo
Dec 1, 2000·Cancer radiothérapie : journal de la Société française de radiothérapie oncologique·D Averbeck
Aug 12, 2003·Journal of Molecular Biology·Pawel PelczarIgor Kovalchuk

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.