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Protein involved in DNA repair
SLX4 (also known as BTBD12 and FANCP ) is a
protein involved in
DNA repair , where it has important roles in the final steps of
homologous recombination .
[5] Mutations in the gene are associated with the disease
Fanconi anemia .
[6]
[7]
The version of SLX4 present in humans and other mammals acts as a sort of scaffold upon which other proteins form several different
multiprotein complexes . The
SLX1 -SLX4 complex acts as a
Holliday junction resolvase. As such, the complex cleaves the links between two homologous chromosomes that form during homologous recombination. This allows the two linked chromosomes to resolve into two unconnected double-strand DNA molecules.
[8] The
SLX4 interacting protein interacts with SLX4 in the DNA repair process, specifically in interstrand crosslink repair.
[9] SLX4 also associates with
RAD1 ,
RAD10 and SAW1 in the
single-strand annealing pathway of homologous recombination.
[10] The DNA repair function of SLX4 is involved in sensitivity to proton beam radiation.
[11]
References
^
a
b
c
GRCh38: Ensembl release 89: ENSG00000188827 –
Ensembl , May 2017
^
a
b
c
GRCm38: Ensembl release 89: ENSMUSG00000039738 –
Ensembl , May 2017
^
"Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .
^
"Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .
^ Klein HL, Symington LS (July 2009).
"Breaking up just got easier to do" . Cell . 138 (1): 20–22.
doi :
10.1016/j.cell.2009.06.039 .
PMID
19596231 .
S2CID
15429205 .
^ Kim Y, Lach FP, Desetty R, Hanenberg H, Auerbach AD, Smogorzewska A (February 2011).
"Mutations of the SLX4 gene in Fanconi anemia" . Nature Genetics . 43 (2): 142–146.
doi :
10.1038/ng.750 .
PMC
3345287 .
PMID
21240275 .
^ van der Weyden L, White JK, Adams DJ, Logan DW (June 2011).
"The mouse genetics toolkit: revealing function and mechanism" . Genome Biology . 12 (6): 224.
doi :
10.1186/gb-2011-12-6-224 .
PMC
3218837 .
PMID
21722353 .
^ Svendsen JM, Smogorzewska A, Sowa ME, O'Connell BC, Gygi SP, Elledge SJ, Harper JW (July 2009).
"Mammalian BTBD12/SLX4 assembles a Holliday junction resolvase and is required for DNA repair" . Cell . 138 (1): 63–77.
doi :
10.1016/j.cell.2009.06.030 .
PMC
2720686 .
PMID
19596235 .
^ Zhang H, Chen Z, Ye Y, Ye Z, Cao D, Xiong Y, et al. (November 2019).
"SLX4IP acts with SLX4 and XPF-ERCC1 to promote interstrand crosslink repair" . Nucleic Acids Research . 47 (19): 10181–10201.
doi :
10.1093/nar/gkz769 .
PMC
6821277 .
PMID
31495888 .
^ Mimitou EP, Symington LS (September 2009).
"DNA end resection: many nucleases make light work" . DNA Repair . 8 (9): 983–995.
doi :
10.1016/j.dnarep.2009.04.017 .
PMC
2760233 .
PMID
19473888 .
^ Liu Q, Underwood TS, Kung J, Wang M, Lu HM, Paganetti H, et al. (May 2016).
"Disruption of SLX4-MUS81 Function Increases the Relative Biological Effectiveness of Proton Radiation" . International Journal of Radiation Oncology, Biology, Physics . 95 (1): 78–85.
doi :
10.1016/j.ijrobp.2016.01.046 .
PMC
4889010 .
PMID
27084631 .
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