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Table 1.

Kinds of mutations induced by UV(254nm) in the HPRT gene of human cells that differ in expression of Pol ι or Pol η or induced in a target gene (lacZα) by replication-competent cell-free extracts from such cells

Cells expressing Pol η and Pol ι
Cells devoid of Pol η, but expressing Pol ι
Intact cells
Cell extract
Intact cells
Cell extract
Intact cells (expressing hTERT)
XP12BE
XP5KA
XP4BE
XP115LO
XP115LO
XP115LO
XP115LO
Excision minus
Normal
Normal
Variant
Variant
SV40 strain variant
Parent variant
Clone 10 variant
Clone 40 variant
Pol η
100%
100%
100%
0%
0%
0%
0%
0%
0%
Pol ι100%100%100%100%100%200%200%100%100%
Transversions 6 (27.2%) 8 (12.9%) 6 (11.3%) 14 (70.0%) 16 (55.0%) 21 (63.7%) 48 (63.2%) 17 (70.0%) 11 (68.8%) 
    T → A 1 (4.5%) 2 (3.3%) 1 (1.9%) 5 (25.0%) 3 (10.3%) 8 (24.3%) 21 (27.7%) 8 (33.0%) 6 (37.5%) 
    C → A 2 (9.1%) 1 (1.6%) 3 (5.7%) 9 (45.0%) 9 (31.0%) 13 (39.4%) 20 (26.3%) 6 (25.0%) 4 (25.0%) 
    T → G 2 (9.1%) 3 (10.3%) 7 (9.2%) 1 (4.0%) 1 (6.3%) 
    C → G 1 (4.5%) 5 (8.2%) 2 (3.7%) 1 (3.4%) 2 (8.0%) 
Transitions 16 (72.8%) 54 (87.1%) 47 (88.7%) 6 (30.0%) 13 (45.0%) 12 (36.3%) 28 (36.8%) 7 (30.0%) 5 (31.2%) 
    C → T 15 (68.2%) 37 (59.7%) 43 (81.1%) 4 (20.0%) 7 (24.0%) 11 (33.3%) 19 (25.0%) 3 (13.0%) 1 (6.2%) 
    T → C 1 (4.6%) 17 (27.4%) 4 (7.6%) 2 (10.0%) 6 (21.0%) 1 (3.0%) 9 (11.8%) 4 (17.0%) 4 (25.0%) 
 22 62 53 20 29 33 76 24 16 
Cells expressing Pol η and Pol ι
Cells devoid of Pol η, but expressing Pol ι
Intact cells
Cell extract
Intact cells
Cell extract
Intact cells (expressing hTERT)
XP12BE
XP5KA
XP4BE
XP115LO
XP115LO
XP115LO
XP115LO
Excision minus
Normal
Normal
Variant
Variant
SV40 strain variant
Parent variant
Clone 10 variant
Clone 40 variant
Pol η
100%
100%
100%
0%
0%
0%
0%
0%
0%
Pol ι100%100%100%100%100%200%200%100%100%
Transversions 6 (27.2%) 8 (12.9%) 6 (11.3%) 14 (70.0%) 16 (55.0%) 21 (63.7%) 48 (63.2%) 17 (70.0%) 11 (68.8%) 
    T → A 1 (4.5%) 2 (3.3%) 1 (1.9%) 5 (25.0%) 3 (10.3%) 8 (24.3%) 21 (27.7%) 8 (33.0%) 6 (37.5%) 
    C → A 2 (9.1%) 1 (1.6%) 3 (5.7%) 9 (45.0%) 9 (31.0%) 13 (39.4%) 20 (26.3%) 6 (25.0%) 4 (25.0%) 
    T → G 2 (9.1%) 3 (10.3%) 7 (9.2%) 1 (4.0%) 1 (6.3%) 
    C → G 1 (4.5%) 5 (8.2%) 2 (3.7%) 1 (3.4%) 2 (8.0%) 
Transitions 16 (72.8%) 54 (87.1%) 47 (88.7%) 6 (30.0%) 13 (45.0%) 12 (36.3%) 28 (36.8%) 7 (30.0%) 5 (31.2%) 
    C → T 15 (68.2%) 37 (59.7%) 43 (81.1%) 4 (20.0%) 7 (24.0%) 11 (33.3%) 19 (25.0%) 3 (13.0%) 1 (6.2%) 
    T → C 1 (4.6%) 17 (27.4%) 4 (7.6%) 2 (10.0%) 6 (21.0%) 1 (3.0%) 9 (11.8%) 4 (17.0%) 4 (25.0%) 
 22 62 53 20 29 33 76 24 16 

NOTE: Of the 335 independent mutations shown here, 163 are taken from published reports. Data from excision repair–deficient complementation group A cells, XP12BE, are from ref. 5; 26 of the 62 data derived using normal human skin fibroblasts (column 2) were reported in ref. 5 or 10; 53 data obtained using replication-competent cell-free extracts from HeLa cells and from foreskin-derived human fibroblast cell line MSU1.2 and 33 using extract from an SV40-immortalized XP115LO variant cell line are taken from ref. 12. The 172 additional new data (i.e., 36 mutations induced using normal human cells; 20 from XPV cell line XP5KA cells; 76 from infinite life span parental 115LO cells; 24 from its derivative, clone 10; and 16 from its derivative, clone 40) were obtained in the present study.

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