Functional and sequencing analysis of the TP53, TP63, and hCHK2 genes in 17 LFS or LFL families
| Family | Presentation | TP53 | TP63 | hCHK2 | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| FASAY % of red colonies | Nucleotide change | Amino acid change | FASAY % of red colonies | DNA sequence | cDNA sequence | |||||||
| F1 | LFS | 74 | TGC → TAC | Cys141Tyr1-150 | / | / | / | |||||
| F2 | LFS | 17 | CGC → GGC | Arg175Gly1-150 | / | / | / | |||||
| F3 | LFS | 12 | 1 bp (T) Del | 212 FS Del1-151 | / | / | / | |||||
| F4 | LFS | 48 | GGC → AGC | Gly245Ser1-152 | / | / | / | |||||
| F5 | LFLb | 17 | Intron 6 SD ag → aa1-153 | 225 FS Ins1-154 | / | / | / | |||||
| F6 | LFLb | ND1-160 | ATG → ATA | Met237Ile1-150 | / | / | / | |||||
| F7 | LFLb | 53 | CGT → TGT | Arg273Cys1-150 1-152 | / | / | / | |||||
| F8 | LFLb | 49 | CCT → TCT | Pro278Ser1-150 | / | / | / | |||||
| F9 | LFLb | 6 | WT | / | ND | WT | ND | |||||
| F10 | LFLe | 22 | CGC → CAC | Arg175His1-150 1-152 | / | / | / | |||||
| F11 | LFLe | 50 | CGG → TGG | Arg282Trp1-150 1-152 | / | / | ||||||
| F12 | LFLe | 14 | CGA → TGA | Arg306Stop1-152 | / | / | / | |||||
| F13 | LFLe | 6 | WT | / | 8 | WT | WT | |||||
| F14 | LFLe | 4 | WT | / | 4 | WT | WT | |||||
| F15 | LFLe | 3 | WT | / | 4 | WT | WT | |||||
| F16 | LFLe | 2 | WT | / | 5 | WT | WT | |||||
| F17 | LFLe | ND | WT | / | ND | WT | ND | |||||
↵1-150 This missense mutation was shown to alter the transactivation of p21 and bax reporter constructs in yeast.24
↵1-151 Frameshift deletion.
↵1-152 Germline mutation previously listed in data base from Christophe Beroud, Karim Debouche, and Thierry Soussi (http://perso.curie.fr/Thierry.Soussi/).
↵1-153 Analysis of the cDNA showed that this mutation of the splicing donor site resulted in a partial retention of intron 6 owing to the activation of a cryptic site.
↵1-154 Frameshift insertion.
↵1-160 Not done.
WT=wild type.