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) |
See also http://www.malacards.org.