Dumstorf et al. 10.1073/pnas.0605247103. |
Table 2. UV-induced mutations at the Hprt locus in primary fibroblasts derived from Pol+/+ Pol+/+mice
Mutant | Mutation | Position | Surrounding sequence* | Amino acid changed | Strand with affected dipyrimidine |
Dipyrimidine Base Substitutions |
|
|
|
|
|
Mutations involving cytosine |
|
|
|
|
|
WT7 | CG ® TA | 74 | ATA CCT AAT | Pro ® Leu | Nontranscribed |
WT15 | CG ® TA | 74 | ATA CCT AAT | Pro ® Leu | Nontranscribed |
WT3 | CG ® TA | 74 | ATA CCT AAT | Pro ® Leu | Nontranscribed |
WT19 | CG ® TA | 113 | ATT CCT CAT | Pro ® Leu | Nontranscribed |
WT1 | CG ® TA | 145 | AGA CTT GCT | Leu ® Phe | Nontranscribed |
WT18 | CG ® TA | 145 | AGA CTT GCT | Leu ® Phe | Nontranscribed |
WT512 | CG ® TA | 145 | AGA CTT GCT | Leu ® Phe | Nontranscribed |
WT412 | CG ® TA | 151 | GCT CGA GAT | Arg ® STOP | Nontranscribed |
WT4 | CG ® TA | 209 | AAG GGG GGC | Gly ® Glu | Transcribed |
WT14 | CG ® TA | 508 | TCT CGA AGT | Arg ® STOP | Nontranscribed |
WT22 | CG ® TA | 550 | ATT CCA GAC | Pro ® Ser | Nontranscribed |
WT112 | CG ® TA | 550 | ATT CCA GAC | Pro ® Ser | Nontranscribed |
WT15 | CG ® TA | 601 | AGG GAT TTG | Asp ® Asn | Transcribed |
|
|
|
|
|
|
WT40 | CG ® AT | 134 | GAC AGG ACT | Arg ® Met | Transcribed |
WT35 | CG ® AT | 379 | ACT GGA AAG | Gly ® STOP | Transcribed |
Mutations involving thymidine |
|
|
|
|
|
WT44 | TA ® CG | 194 | GCC CTC TGT | Leu ® Pro | Nontranscribed |
WT6 | TA ® AT | 125 | CTG ATT ATG | Ile ® Asn | Nontranscribed |
WT51 | TA ® AT | 125 | CTG ATT ATG | Ile ® Asn | Nontranscribed |
WT7 | TA ® AT | 125 | CTG ATT ATG | Ile ® Asn | Nontranscribed |
WT28 | TA ® AT | 245 | TAC ATT AAA | Ile ® Asn | Nontranscribed |
WT8 | TA ® AT | 245 | TAC ATT AAA | Ile ® Asn | Nontranscribed |
WT532 | TA ® AT | 410 | ATA ATT GAC | Ile ® Asn | Nontranscribed |
WT213 | TA ® GC | 194 | GCC CTC TGT | Leu ® Arg | Nontranscribed |
WT512 | TA ® GC | 194 | GCC CTC TGT | Leu ® Arg | Nontranscribed |
WT10 | TA ® GC | 424 | AAA ACA ATG | Thr ® Pro | Transcribed |
WT71 | TA ® GC | 449 | CTG GTT AAG | Val ® Gly | Nontranscribed |
WT510 | TA ® GC | 449 | CTG GTT AAG | Val ® Gly | Nontranscribed |
Mutant | Mutation | Position | Surrounding sequence* | Amino acid changed | Strand with affected dipyrimidine |
Nontandem double base substitutions |
|
|
|
|
|
WT2 | CG ® TA | 113 | ATT CCT CAT | Pro ® Leu |
|
CG ® AT | 115 | His ® Asn |
| ||
WT12 | CG ® TA | 113 | CCT CAT GGA | Pro ® Leu |
|
CG ® AT | 118 | Gly ® STOP |
| ||
Nondipyrimidine base substitutions |
|
|
|
|
|
WT31 | CG ® AT | 157 | GAT GTC ATG | Val ® Phe |
|
WT43 | TA ® AT | 1 | GTC ATG CCG | START ® Leu |
|
Frameshifts |
|
|
|
|
|
WT83 | +T | 372 - 374 | ACT TTA ACT |
|
|
WT11 | +T | 655 | AAA GCC TAA | STOP ® Leu |
|
Exon deletions |
|
|
|
|
|
WT96 |
| Exon 2-3 |
|
|
|
WT171 |
| Exon 7 |
|
|
|
Large insertion |
|
|
|
|
|
WT243 | +67 bases | 403,404 |
|
|
|
*Sequences of the non-transcribed (coding) strand.
Complex photoproducts have been suggested to occur at ACA sequences.Table 3. UV-induced mutations at the Hprt locus in primary fibroblasts derived from Pol-/- Pol+/+ mice
Mutant | Mutation | Position | Surrounding sequence* | Amino acid changed | Strand with affected dipyrimidine |
Dipyrimidine Base Substitutions |
|
|
|
|
|
Mutations involving cytosine |
|
|
|
|
|
H6 | CG ® TA | 74 | ATA CCT AAT | Pro ® Leu | Nontranscribed |
H3 | CG ® TA | 74 | ATA CCT AAT | Pro ® Leu | Nontranscribed |
H31 | CG ® TA | 464 | AGC CCC AAA | Pro ® Leu | Nontranscribed |
H5 | CG ® TA | 464 | AGC CCC AAA | Pro ® Leu | Nontranscribed |
H29 | CG ® TA | 464 | AGC CCC AAA | Pro ® Leu | Nontranscribed |
H12 | CG ® TA | 544 | TTT GAA ATT | Glu ® Lys | Transcribed |
H2 | CG ® TA | 551 | ATT CCA GAC | Pro ® Leu | Nontranscribed |
H15 | CG ® TA | 551 | ATT CCA GAC | Pro ® Leu | Nontranscribed |
H9 | CG ® TA | 551 | ATT CCA GAC | Pro ® Leu | Nontranscribed |
|
|
|
|
|
|
H62 | CG ® AT | 329 | CAG TCA ACG | Ser ® STOP | Nontranscribed |
H18 | CG ® AT | 329 | CAG TCA ACG | Ser ® STOP | Nontranscribed |
H16 | CG ® AT | 355 | GGT GGA GAT | Gly ® STOP | Transcribed |
H13 | CG ® AT | 400 | GTT GAA GAT | Glu ® STOP | Transcribed |
H1 | CG ® AT | 580 | CTT GAC TAT | Asp ® Tyr | Transcribed |
H17 | CG ® AT | 589 | AAT GAG TAC | Glu ® STOP | Transcribed |
H23 | CG ® AT | 601 | AGG GAT TTG | Asp ® Tyr | Transcribed |
H21 | CG ® AT | 606 | GAT TTG AAT | Leu ® Phe | Transcribed |
H14 | CG ® AT | 634 | ACT GGA AAA | Gly ® STOP | Transcribed |
|
|
|
|
|
|
H19 | CG ® GC | 550 | ATT CCA GAC | Pro ® Ala | Nontranscribed |
Mutations involving thymidine | |||||
H23 | TA ® AT | 214 | GGC TAT AAG | Tyr ® Asn | Nontranscribed |
H24 | TA ® AT | 389 | AAT GTC TTG | Val ® Asp | Nontranscribed |
H71 | TA ® AT | 389 | AAT GTC TTG | Val ® Asp | Nontranscribed |
H85 | TA ® AT | 437 | ACT TTG CTT | Leu ® STOP | Nontranscribed |
H45 | TA ® AT | 543 | GGA TTT GAA | Phe ® Leu | Nontranscribed |
|
|
|
|
|
|
H76 | TA ® CG | 203 | GTG CTC AAG | Leu ® Pro | Nontranscribed |
H90 | TA ® CG | 203 | GTG CTC AAG | Leu ® Pro | Nontranscribed |
H53 | TA ® CG | 254 | GCA CTG AAT | Leu ® Pro | Nontranscribed |
H84 | TA ® CG | 392 | GTC TTG ATT | Leu ® Ser | Nontranscribed |
H26 | TA ® CG | 404 | GAA GAT ATA | Asp ® Gly | Transcribed |
H78 | TA ® CG | 437 | ACT TTG CTT | Leu ® Ser | Nontranscribed |
H30 | TA ® CG | 542 | GGA TTT GAA | Phe ® Ser | Nontranscribed |
|
|
|
|
|
|
H2 | TA ® GC | 655 | AAA GCC TAA | STOP® Glu | Nontranscribed |
|
|
|
|
|
|
Tandem dipyrimidine base substitutions |
|
|
|
|
|
H81 | CG ® TA | 112 | ATT CCT CAT | Pro ® Phe | Nontranscribed |
CG ® TA | 113 | ||||
H20 | CG ® TA | 112 | ATT CCT CAT | Pro ® Phe | Nontranscribed |
CG ® TA | 113 | ||||
Nondipyrimidine base substitutions |
|
|
|
|
|
H7 | CG ® AT | 617 | GTT TGT GTC | Cys ® Phe |
|
H22 | TA ® AT | 109 | TTT ATT CCT | Ile ® Phe |
|
H27 | TA ® GC | 584 | GAC TAT AAT | Tyr ® Ser |
|
H91 | TA ® GC | 584 | GAC TAT AAT | Tyr ® Ser |
|
Frameshift mutations |
|
|
|
|
|
H99 | +T | 578 - 579 | GCC Ctt GAC | Asp ® STOP |
|
H37 | -TA | 520, 521 | GGA TAC AGG |
|
|
Exon deletions |
|
|
|
|
|
H25 |
| Exon 2 |
|
|
|
H10 |
| Exon 2 |
|
|
|
H8 |
| Exon 2-3 |
|
|
|
H60 |
| Exon 2-5 |
|
|
|
H68 |
| Exon 2-7 |
|
|
|
Deletions |
|
|
|
|
|
H11 |
| ∆403 - 456 |
|
|
|
H4 |
| ∆404 - 448 |
|
|
|
H93 § |
| ∆533 - 553 |
|
|
|
*Sequences of the nontranscribed (coding) strand.
Complex photoproducts have been suggested to occur at ACA and TGT sequences.
Presumed cryptic splice acceptor within exon 6.§
Presumed cryptic splice acceptor within exon 8.Table 4. UV-induced mutations at the Hprt locus in primary fibroblasts derived from Pol+/+ Pol-/- mice
Mutant | Mutation | Position | Surrounding sequence* | Amino acid changed | Strand with affected dipyrimidine |
Dipyrimidine Base Substitutions |
|
|
|
|
|
Mutations involving cytosine |
|
|
|
|
|
I2 | CG ® TA | 113 | ATT CCT CAT | Pro ® His | Nontranscribed |
I1 | CG ® TA | 209 | AAG GGG GGC | Gly ® Glu | Transcribed |
I5 | CG ® TA | 325 | GAT CAG TCA | Gln ® STOP | Nontranscribed |
I42 | CG ® TA | 463 | AGC CCC AAA | Pro ® Ser | Nontranscribed |
I62 | CG ® TA | 544 | TTT GAA ATT | Glu ® Lys | Transcribed |
I32 | CG ® AT | 634 | ACT GGA AAA | Gly ® STOP | Nontranscribed |
Mutations involving thymidine |
|
|
|
|
|
I24 | TA ® AT | 64 | TTG TTT TGT | Phe ® Ile | Nontranscribed |
I28 | TA ® AT | 64 | TTG TTT TGT | Phe ® Ile | Nontranscribed |
I79 | TA ® AT | 125 | CTG ATT ATG | Ile ® Asn | Nontranscribed |
I17 | TA ® AT | 245 | TAC ATT AAA | Ile ® Asn | Nontranscribed |
I6 | TA ® AT | 247 | AAT AAA GCA | Lys ® STOP | Transcribed |
Tandem dipyrimidine base substitutions |
|
|
|
|
|
I14 | CG ® TA | 171 | ATG GGA GGC | Met ® Ile | Transcribed |
CG ® TA | 172 | Gly ® Arg | |||
I22 | CG ® AT | 112 | ATT CCT CAT
| Pro ® Ile | Nontranscribed |
CG ® TA | 113 | Pro ® Ile | |||
I12 | TA ® AT | 389 | AAT GTC TTG | Val ® Asp | Nontranscribed |
CG ® TA | 390 | Val ® Asp | |||
Nontandem double base substitutions |
|
|
|
|
|
I8 | CG ® AT | 589 | AAT GAG TAC | Glu ® STOP |
|
CG ® TA | 591 | Glu ® STOP |
| ||
I91 | CG ® TA | 599 | TTC AGG GAT | Arg ® Lys |
|
CG ® TA | 601 | Asp ® Asn |
| ||
Nondipyrimidine base substitutions |
|
|
|
|
|
I3 | CG ® AT | 397 | ATT GTT GAA | Val ® Phe |
|
I161 | CG ® AT | 482 | GTT GCA AGC | Ala ® Glu |
|
Exon deletions |
|
|
|
|
|
I412 |
| Exon 2-3 |
|
|
|
*Sequences of the non-transcribed (coding) strand
Complex photoproducts have been suggested to occur at ACA sequences.Table 5. UV-induced mutations at the Hprt locus in primary fibroblasts derived from Polh-/- Poli-/- mice
Mutant | Mutation | Position | Surrounding sequence* | Amino acid changed | Strand with affected dipyrimidine |
Dipyrimidine Base Substitutions | |||||
Mutations involving cytosine |
|
|
|
|
|
HI761 | CG ® TA | 34 | AGC GAT GAT | Asp ® Asn | Transcribed |
HI757 | CG ® TA | 325 | GAT CAG TCA | Gln ® STOP | Nontranscribed |
HI7 | CG ® TA | 464 | AGC CCC AAA | Pro ® Leu | Nontranscribed |
HI759 | CG ® TA | 493 | CTG GTG AAA | Val ® Met | Transcribed |
HI81 | CG ® AT | 538 | GTT GGA TTT | Gly ® STOP | Transcribed |
HI61 | CG ® AT | 606 | GAT TTG AAT | Leu ® Phe | Transcribed |
HI759 | CG ® AT | 606 | GAT TTG AAT | Leu ® Phe | Transcribed |
HI761 | CG ® AT | 606 | GAT TTG AAT | Leu ® Phe | Transcribed |
Mutations involving thymidine |
|
|
|
|
|
HI76 | TA ® CG | 146 | AGA CTT GCT | Leu ® Pro | Nontranscribed |
HI761 | TA ® CG | 203 | GTG CTC AAG | Leu ® Pro | Nontranscribed |
HI10 | TA ® CG | 194 | GCC CTC TGT | Leu ® Pro | Nontranscribed |
HI4 | TA ® AT | 247 | ATT AAA GCA | Lys ® STOP | Transcribed |
HI11 | TA ® AT | 543 | GGA TTT GAA | Phe ® Leu | Nontranscribed |
HI10 | TA ® AT | 656 | GCC TAA GAT | STOP ® Leu | Transcribed |
Tandem dipyrimidine base substitutions |
|
|
|
|
|
HI63 | CG ® TA | 112 | ATT CCT CAT | Pro ® Phe | Nontranscribed |
|
| 113 | |||
Tandem non-dipyrimidine base substitutions |
|
|
|
|
|
HI86 | TA ® GC | 516 | AGT GTT GGA | Val ® Val |
|
| CG ® AT | 517 | Gly ® STOP |
| |
Nondipyrimidine base substitutions |
|
|
|
|
|
HI2 | CG ® AT | 617 | GTT TGT GTC | Cys ® Phe |
|
HI759, | CG ® TA | 243 | GAT TAC ATT | Tyr ® Tyr |
|
HI62 | TA ® AT | 109 | TTT ATT CCT | Ile ® Phe |
|
Frameshifts |
|
|
|
|
|
HI6 | ∆A | 451,452 | GTT AAG CAG |
|
|
Exon deletions |
|
|
|
|
|
HI83 |
| Exon 2-3 |
|
|
|
HI32 |
| Exon3 |
|
|
|
HI114 |
| Exon 4 |
|
|
|
HI9 |
| Exon 5 |
|
|
|
HI82 |
| Exon 8 |
|
|
|
* Sequences of the nontranscribed (coding strand).
Mutants containing multiple dimer sites at greater than 150 nucleotides apart.
Complex photoproducts have been suggested to occur at ACA and TGT sequences.