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. 2014 Nov 1;198(3):795–835. doi: 10.1534/genetics.114.166140

Table 1. Evolutionary conservation of homologous recombination proteins and examples of related human diseases.

Functional class S. cerevisiae H. sapiens Associated disease(s) References
End resection Mre11-Rad50-Xrs2 MRE11-RAD50-NBS1 Nijmegen breakage syndrome; AT-like disorder (Varon et al., 1998)
Sae2 CtIP
Exo1 EXO1 Colorectal cancer (Yang et al., 2014)
Dna2-Sgs1-Top3-Rmi1 DNA2-BLM-TOP3-RMI1-RMI2 Bloom syndrome (Kaneko and Kondo, 2004)
Adaptors Rad9 53BP1, MDC1 Breast cancer (Bartkova et al., 2007; Rapakko et al., 2007)
- BRCA1 Breast cancer (Petrucelli et al., 2010)
Checkpoint signaling Tel1 ATM Ataxia-telangiectasia (Gatti et al., 2001)
Mec1-Ddc2 ATR-ATRIP Seckel syndrome (O'Driscoll et al., 2003)
Rad53 CHK2
Rad24-RFC RAD17-RFC
Ddc1-Mec3-Rad17 RAD9-HUS1-RAD1
Dpb11 TOPBP1 Breast cancer (Karppinen et al., 2006)
Single-stranded DNA binding Rfa1-Rfa2-Rfa3 RPA1-RPA2-RPA3
Single-strand annealing Rad52 RAD52
Rad59 -
Mediators Rad52 -
- BRCA2-PALB2 Breast cancer (Petrucelli et al., 2010)
Strand exchange Rad51 RAD51 Breast cancer (Nissar et al., 2014; Sun et al., 2011)
Rad54 RAD54A, RAD54B
Rdh54 -
Rad51 paralogs Rad55-Rad57 RAD51B-RAD51C-RAD51D-XRCC2-XRCC3 Breast cancer (Silva et al., 2010; Vuorela et al., 2011)
Psy3-Csm2-Shu1-Shu2 RAD51D-XRCC2-SWS1
Anti-recombinases Srs2 FBH1, PARI
Mph1 FANCM Fanconi Anemia (Meetei et al., 2005)
- RTEL1 Hoyeraal-Hreidarsson syndrome (Ballew et al., 2013)
Resolvases and nucleases Mus81-Mms4 MUS81-EME1
Slx1-Slx4 SLX1-SLX4 Fanconi Anemia (Crossan et al., 2011; Kim et al., 2011; Stoepker et al., 2011)
Yen1 GEN1
Rad1-Rad10 XPF-ERCC1 Xeroderma pigmentosum (Gregg et al., 2011)