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. 2014 Jan 21;111(5):1897–1902. doi: 10.1073/pnas.1314423111

Table 1.

Activity of the genes analyzed

Deleted yeast gene Human homolog Biological function Associated mammalian syndome Yeast mutator genetic assays
CAN1r [rate (×10−7)*] GCR assay [rate (×10−9)*,]
WT 2.80 (1) 0.35 (1)
CAC1 and CAC3 CAF1 subunits Chromatin-assembly factor CAF-1 is overexpressed in breast tumors 1.16 (0.4) 690 (1971)
PIF1 hPIF1 Helicase with telomerase inhibitor activity; involved in maintenance of mitochondrial genome Unknown 20.41 (7) 353 (1,009)
POL32 POLD3 Subunit of polymerase δ involved in DNA replication Unknown 2.81 (1) 0.65 (2)
TSA1 PRDX1 Thioredoxin peroxidase involved in oxidative stress response Lymphoma, carcinoma, and sarcoma 19.25 (7) 6 (17)
MSH2 hMSH2 Protein playing a key role in the mismatch repair process Hereditary nonpolyposis colorectal cancer 59.60 (21) 4 (11)
RAD27 FEN1 Flap endonuclease involved in DNA replication and repair Lung adenoma and adenocarcinoma 95.87 (34) 320 (914)
MEC1 and TEL1 ATR and ATM DNA damage/S-phase checkpoints Ataxia telangiectasia 482.49 (172) 4,500 (12,857)
CLB5 CCNB1 B-type cyclin involved in DNA replication during S-phase Unknown 2.28 (0.8) 0.22 (6)
MRE11 hMRE11 Protein involved in DSB repair, NHEJ, and telomere metabolism Ataxia telangiectasia-like disorder (ATLD) 20.81 (7) 220 (629)

Mammalian orthologs and diseases associated with their deficiencies are indicated.

*

Average mutation rate of the WT and parental mutator strains (G0) in the CANr (present results) and GCR (6) reporter assays. The relative fold increase over the WT strain is reported in parentheses.

See refs. 6, 12, 15, 32, 33, and 4446.

The sml1Δ mutation is necessary to suppress the lethality of the mec1Δ mutation (47). In the text, the mec1Δ tel1Δ sml1Δ genotype is abbreviated to mec1Δ tel1Δ.