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handle: 10261/364196
• Folder: Fragment_Analysis. Fluorescent Fragment Analysis: Sub-folder Microdeletions: 80 *.fsa files of fluorescent fragment analysis of RT-PCRs of microdeletions Sub-folder Variants: 331 *.fsa files of fluorescent fragment analysis of RT-PCRs of variants • Folder: Sequences. 176 *.ab1 files of cDNA sequences of the wild type and mutant minigenes. Sub-folder cDNA. Transcript Sequencing. Sub-folder Microdeletions: 49 *.ab1 files of transcripts generated by microdeletions. Sub-folder Variants: 206 *.ab1 files of transcripts generated by variants. Sub-folder: Minigenes. Sequence files of wild type and mutant constructs: 89 *.ab1 files. Sub-folder Microdeletions: 28 *.ab1 files. Sub-folder Variants: 135 *.ab1 files • Folder: WT. Fragment analysis and sequencing files of the wild type minigene. Sub-Folder: Fragment_Analysis: 3 *.fsa files of fluorescent fragment analysis of RT-PCRs of the wild type construct. Sub-Folder: Sequences: 4 *.ab1 files of RT-PCRs and the construct sequences of the wild type minigene.
This dataset corresponds to a comprehensive study of exons 3 and 6 of the cancer susceptibility gene TP53. For this purpose, we have used a minigene with exons 2 to 9, where we introduced 31 internal microdeletions, one intron replacement and 134 variants of exons 3 and 6 and intron 6 by site-directed mutagenesis that were assayed in SKBR3 cells. We identified four SRE-rich regions essential for exon recognition. Four control ±1,2 and 130 single nucleotide variants (SNVs) located at the SRE-rich intervals were assayed. We found 13 putative SRE-disrupting variants that impaired recognition of exons 3 (△(E3): 10-17%) or 6 (△(E6): 8-26%).
EAV-S lab is supported by a grant from the Spanish Ministry of Science and Innovation, Plan Nacional de I+D+I 2013-2016, ISCIII (PI23/00047) co-funded by FEDER from Regional Development European Funds (European Union).
[Description of methods used for collection/generation of data] Sanger sequencing, Fluorescent Fragment Analysis.
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