- Mammalian BTBD12/SLX4 assembles a Holliday junction resolvase and is required for DNA repair
Jennifer M Svendsen
Department of Pathology, Harvard Medical School, Boston, MA 02115, USA
Cell 138:63-77. 2009
..Here, we identify BTBD12 as the human ortholog of the budding yeast DNA repair factor Slx4p and D. melanogaster MUS312...
- Human SLX4 is a Holliday junction resolvase subunit that binds multiple DNA repair/recombination endonucleases
Genome Instability and Carcinogenesis UPR3081 CNRS, Conventionné par l Université d Aix Marseille 2, IGC, IMM 31 chemin Joseph Aiguier, 13402 Marseille, France
Cell 138:78-89. 2009
..identification of Slx4 orthologs in metazoa, including fly MUS312, essential for meiotic recombination, and human BTBD12, an ATM/ATR checkpoint kinase substrate...
- Mutation analysis of the SLX4/FANCP gene in hereditary breast cancer
Clinics of Obstetrics and Gynaecology, Hannover Medical School, Carl Neuberg Str 1, 30625 Hannover, Germany
Breast Cancer Res Treat 130:1021-8. 2011
b>SLX4 coordinates three structure-specific endonucleases in the DNA damage response. One subtype of Fanconi anaemia, FA-P, has recently been attributed to biallelic SLX4 gene mutations...
- Coordination of structure-specific nucleases by human SLX4/BTBD12 is required for DNA repair
Ivan M Munoz
MRC Protein Phosphorylation Unit, College of Life Sciences, University of Dundee, Dundee DD1 5EH, Scotland, UK
Mol Cell 35:116-27. 2009
Budding yeast Slx4 interacts with the structure-specific endonuclease Slx1 to ensure completion of ribosomal DNA replication...
- Analysis of the novel fanconi anemia gene SLX4/FANCP in familial breast cancer cases
Janine L Bakker
Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands
Hum Mutat 34:70-3. 2013
SLX4/FANCP is a recently discovered novel disease gene for Fanconi anemia (FA), a rare recessive disorder characterized by chromosomal instability and increased cancer susceptibility...
- The nuclease hSNM1B/Apollo is linked to the Fanconi anemia pathway via its interaction with FANCP/SLX4
Institute of Medical and Human Genetics, Charite Universitatsmedizin Berlin, Augustenburger Platz 1, Berlin, Germany
Hum Mol Genet 21:4948-56. 2012
..expressed hSNM1B/Apollo co-immunoprecipitates with SLX4, a protein recently identified as a new FA protein, FANCP, and known to interact with several structure-specific nucleases...
- Proliferating cell nuclear antigen (PCNA)-binding protein C1orf124 is a regulator of translesion synthesis
Department of Experimental Radiation Oncology, The University of Texas MD Anderson Cancer Center, Houston, Texas 77030, USA
J Biol Chem 287:34225-33. 2012
..Thus, C1orf124 acts at multiple steps in TLS, stabilizes RAD18 and ubiquitinated PCNA at damage sites, and facilitates the switch from replicative to TLS polymerase to bypass DNA lesion...
- Delineation of joint molecule resolution pathways in meiosis identifies a crossover-specific resolvase
Department of Microbiology, University of California, Davis, One Shields Avenue, Davis, CA 95616, USA
Cell 149:334-47. 2012
..three distinct endonucleases capable of resolving JMs in vitro have been identified: Mus81-Mms4(EME1), Slx1-Slx4(BTBD12), and Yen1(GEN1)...
- Analysis of SLX4/FANCP in non-BRCA1/2-mutated breast cancer families
Hereditary Cancer Program, Catalan Institute of Oncology ICO, Hospital Duran i Reynals, Bellvitge Institute for Biomedical Research IDIBELL, L Hospitalet, Barcelona, Catalonia, Spain
BMC Cancer 12:84. 2012
..Mutations in the SLX4 gene, which encodes for a scaffold protein involved in the repair of interstrand cross-links, have recently been ..
- Sequencing analysis of SLX4/FANCP gene in Italian familial breast cancer cases
IFOM, Fondazione Istituto FIRC di Oncologia Molecolare, Milan, Italy
PLoS ONE 7:e31038. 2012
..Very recently, SLX4 has been established as a new FA gene raising the question of its implication in breast cancer risk...
- Regulation of multiple DNA repair pathways by the Fanconi anemia protein SLX4
Laboratory of Genome Maintenance, Rockefeller University, New York, NY 10065 6399, USA
Blood 121:54-63. 2013
SLX4, the newly identified Fanconi anemia protein, FANCP, is implicated in repairing DNA damage induced by DNA interstrand cross-linking (ICL) agents, topoisomerase I (TOP1) inhibitors, and in Holliday junction resolution...
- Processing of joint molecule intermediates by structure-selective endonucleases during homologous recombination in eukaryotes
Erin K Schwartz
Department of Microbiology, University of California Davis, Davis, CA 95616, USA
Chromosoma 120:109-27. 2011
..of bacterial RuvC, leading to the discovery of a number of DNA endonucleases, including Mus81-Mms4/EME1, Slx1-Slx4/BTBD12/MUS312, XPF-ERCC1, and Yen1/GEN1...
- SLX4, a coordinator of structure-specific endonucleases, is mutated in a new Fanconi anemia subtype
Department of Clinical Genetics, Vrije Universiteit VU Medical Center, Amsterdam, The Netherlands
Nat Genet 43:138-41. 2011
..b>SLX4, which coordinates three separate endonucleases, was recently recognized as an important regulator of DNA repair...
- Disruption of mouse Slx4, a regulator of structure-specific nucleases, phenocopies Fanconi anemia
Gerry P Crossan
Medical Research Council, Laboratory of Molecular Biology, Cambridge, UK
Nat Genet 43:147-52. 2011
..Here we describe the phenotype of the Btbd12 knockout mouse, the mouse ortholog of SLX4, which recapitulates many key features of the human genetic illness ..
- Mutations of the SLX4 gene in Fanconi anemia
Laboratory of Genome Maintenance, The Rockefeller University, New York, New York, USA
Nat Genet 43:142-6. 2011
..anemia and show that the cellular defects in these individuals' cells are complemented by wildtype SLX4, demonstrating that biallelic mutations in SLX4 (renamed here as FANCP) cause a new subtype of Fanconi anemia, Fanconi anemia-P.
- Drosophila MUS312 and the vertebrate ortholog BTBD12 interact with DNA structure-specific endonucleases in DNA repair and recombination
Sabrina L Andersen
Curriculum in Genetics and Molecular Biology, University of North Carolina, Chapel Hill, NC 27599, USA
Mol Cell 35:128-35. 2009
..protein-protein interactions, and ICL repair function, we determined that the mammalian ortholog of MUS312 is BTBD12. Orthology between these proteins and S...
- Mammalian BTBD12 (SLX4) protects against genomic instability during mammalian spermatogenesis
J Kim Holloway
Department of Biomedical Sciences, College of Veterinary Medicine, Cornell University, Ithaca, New York, USA
PLoS Genet 7:e1002094. 2011
The mammalian ortholog of yeast Slx4, BTBD12, is an ATM substrate that functions as a scaffold for various DNA repair activities. Mutations of human BTBD12 have been reported in a new sub-type of Fanconi anemia patients...