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Structural highlights

Disease

RA51B_HUMAN A chromosomal aberration involving RAD51B is found in pulmonary chondroid hamartoma. Translocation t(6;14)(p21;q23-24) with HMGA1.^[1] A chromosomal aberration involving RAD51B is found in uterine leiomyoma. Translocation t(12;14)(q15;q23-24) with HMGA2.^{[2] [3]}

Function

RA51B_HUMAN Involved in the homologous recombination repair (HRR) pathway of double-stranded DNA breaks arising during DNA replication or induced by DNA-damaging agents. May promote the assembly of presynaptic RAD51 nucleoprotein filaments. Binds single-stranded DNA and double-stranded DNA and has DNA-dependent ATPase activity. Part of the RAD51 paralog protein complex BCDX2 which acts in the BRCA1-BRCA2-dependent HR pathway. Upon DNA damage, BCDX2 acts downstream of BRCA2 recruitment and upstream of RAD51 recruitment. BCDX2 binds predominantly to the intersection of the four duplex arms of the Holliday junction and to junction of replication forks. The BCDX2 complex was originally reported to bind single-stranded DNA, single-stranded gaps in duplex DNA and specifically to nicks in duplex DNA. The BCDX2 subcomplex RAD51B:RAD51C exhibits single-stranded DNA-dependent ATPase activity suggesting an involvement in early stages of the HR pathway.^{[4] [5] [6] [7] [8] [9]}

References

1. ↑ Blank C, Schoenmakers EF, Rogalla P, Huys EH, van Rijk AA, Drieschner N, Bullerdiek J. Intragenic breakpoint within RAD51L1 in a t(6;14)(p21.3;q24) of a pulmonary chondroid hamartoma. Cytogenet Cell Genet. 2001;95(1-2):17-9. PMID:11978964 doi:10.1159/000057011
2. ↑ Quade BJ, Weremowicz S, Neskey DM, Vanni R, Ladd C, Dal Cin P, Morton CC. Fusion transcripts involving HMGA2 are not a common molecular mechanism in uterine leiomyomata with rearrangements in 12q15. Cancer Res. 2003 Mar 15;63(6):1351-8 PMID:12649198
3. ↑ Schoenmakers EF, Huysmans C, Van de Ven WJ. Allelic knockout of novel splice variants of human recombination repair gene RAD51B in t(12;14) uterine leiomyomas. Cancer Res. 1999 Jan 1;59(1):19-23 PMID:9892177
4. ↑ Masson JY, Tarsounas MC, Stasiak AZ, Stasiak A, Shah R, McIlwraith MJ, Benson FE, West SC. Identification and purification of two distinct complexes containing the five RAD51 paralogs. Genes Dev. 2001 Dec 15;15(24):3296-307. PMID:11751635 doi:10.1101/gad.947001
5. ↑ Sigurdsson S, Van Komen S, Bussen W, Schild D, Albala JS, Sung P. Mediator function of the human Rad51B-Rad51C complex in Rad51/RPA-catalyzed DNA strand exchange. Genes Dev. 2001 Dec 15;15(24):3308-18. PMID:11751636 doi:10.1101/gad.935501
6. ↑ Liu N, Schild D, Thelen MP, Thompson LH. Involvement of Rad51C in two distinct protein complexes of Rad51 paralogs in human cells. Nucleic Acids Res. 2002 Feb 15;30(4):1009-15. PMID:11842113 doi:10.1093/nar/30.4.1009
7. ↑ Yokoyama H, Kurumizaka H, Ikawa S, Yokoyama S, Shibata T. Holliday junction binding activity of the human Rad51B protein. J Biol Chem. 2003 Jan 24;278(4):2767-72. PMID:12441335 doi:10.1074/jbc.M210899200
8. ↑ Rodrigue A, Coulombe Y, Jacquet K, Gagné JP, Roques C, Gobeil S, Poirier G, Masson JY. The RAD51 paralogs ensure cellular protection against mitotic defects and aneuploidy. J Cell Sci. 2013 Jan 1;126(Pt 1):348-59. PMID:23108668 doi:10.1242/jcs.114595
9. ↑ Chun J, Buechelmaier ES, Powell SN. Rad51 paralog complexes BCDX2 and CX3 act at different stages in the BRCA1-BRCA2-dependent homologous recombination pathway. Mol Cell Biol. 2013 Jan;33(2):387-95. PMID:23149936 doi:10.1128/MCB.00465-12