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SRX8485231: GSM4594188: PSMD14 exon 11 Output 8d; Homo sapiens; OTHER
1 ILLUMINA (Illumina HiSeq 3000) run: 642,412 spots, 177.3M bases, 81.3Mb downloads

Submitted by: NCBI (GEO)
Study: Mutations primarily alter the inclusion of alternatively spliced exons
show Abstracthide Abstract
Systematic mutagenesis has revealed that synonymous, non-synonymous and intronic mutations frequently alter the inclusion levels of alternatively spliced exons, suggesting that altered splicing might be a common mechanism by which mutations cause disease. However, most exons expressed in any cell are highly-included in mature mRNAs. Here, by performing deep mutagenesis of highly-included exons and by analysing the association between sequence variation and exon inclusion across the genome, we report that mutations only very rarely alter the inclusion of highly-included exons. This is true for both exonic and intronic mutations as well as for perturbations in trans. Therefore, mutations that affect splicing are not evenly distributed across the genome but are focussed in and around alternatively spliced exons with intermediate inclusion levels. These results provide a resource for prioritising synonymous and other variants as disease-causing mutations. Overall design: Deep mutational scan of two exons: (1) the primate ancestor of FAS exon 6 and (2) PSMD14 exon 11
Sample: PSMD14 exon 11 Output 8d
SAMN15154406 • SRS6785252 • All experiments • All runs
Organism: Homo sapiens
Library:
Instrument: Illumina HiSeq 3000
Strategy: OTHER
Source: GENOMIC
Selection: other
Layout: PAIRED
Construction protocol: For each of the experimental replicates, 10 ng of the library were transfected into 250 000 HEK293 cells in one well of a 6-well plate using Lipofectamine 2000 (11668027, Thermo scientific) and OPTIMEM I Reduced Serum Medium (31985-047, Thermo scientific). Six hours post-transfection, the cell culture medium was replaced with DMEM Glutamax (61965059, Life Technologies) containing 10% FBS and Pen/Strep antibiotics. 48 hours post-transfection (72 in the case of the siRNA experiments), total RNA was isolated using the automated Maxwell LEV 16 simplyRNA tissue kit (AS1280, Promega). Accuprime Pfx (12344024, ThermoFisher Scientific) was used following the manufacturer's instructions to amplify 20 ng of single-stranded library DNA for 25 cycles with the following flanking intronic primers: FAS_i5_GC_F and FAS_i6_GC_R (Baeza-Centurion et al. 2019). The amplified library was then recombined with pCMV FAS wt minigene exon 5-6-7 (Förch et al. 2000) using the In-Fusion HD Cloning kit (639649, Clontech) in a 1:8 vector:insert optimized ratio and transformed into Stellar competent cells (636766, Clontech) to maximise the number of individual transformants (800,000 individual clones). The library was then amplified by growing for 18 hours in LB medium containing ampicillin. The final plasmid library were purified using the Quiagen plasmid maxi kit (50912163, Quiagen) and quantified with a NanoDrop spectrophotometer.
Experiment attributes:
GEO Accession: GSM4594188
Links:
Runs: 1 run, 642,412 spots, 177.3M bases, 81.3Mb
Run# of Spots# of BasesSizePublished
SRR11940764642,412177.3M81.3Mb2020-06-29

ID:
11027637

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