GSE51684
GSE GEOTargeted degradation of sense and antisense C9orf72 RNA foci as therapy for amyotrophic lateral sclerosis and frontotemporal dementia (Multiplex Analysis of PolyA-linked Sequences)
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Summary
Purpose: The purpose of this experiment is to identify a C9-ALS/FTD specific genomic profile in fibroblast lines that is distinct from sporadic ALS without C9orf72 expansion and non-neurologic control cells. The study will then evaluate the effect on this identified profile of ASO treatment targeting the sense strand RNA transcript of the C9orf72 gene. Methods: Expression profiling was performed on RNAs from fibroblasts of four C9orf72 patients, four control individuals and four sporadic ALS patients using Multiplex Analysis of PolyA-linked Sequences method. Results: Hierarchical clustering of expression values for all genes showed that the four C9orf72 patient lines had an expression profile distinct from control and sporadic ALS lines. Statistical comparison of expression values between the four C9orf72 lines and the four control lines revealed that 122 genes were upregulated (defined by a False Discovery Rate FDR<0.05) and 34 genes were downregulated (defined by a False Discovery Rate FDR <0.05) in C9orf72 patient fibroblasts. Conclusions: A genome wide RNA signature can be defined in fibroblasts with C9orf72 expansion. ASO-mediated reduction of C9orf72 RNA levels in fibroblasts with the hexanucleotide expansion efficiently reduced accumulation of GGGGCC RNA foci. This did not, however, generate a reversal of the C9orf72 RNA profile.
Overall Design
Use of Multiplex Analysis of PolyA-linked Sequences to identify expression changes in fibroblasts from amyotrophic lateral sclerosis and frontotemporal dementia patients harboring an hexanucleotide expansion in the C9orf72 gene.
Analysis (4 steps)
View Data Processing- Illumina Casava1.8.2 software used for basecalling.
- Demultiplexing based on index sequences
- Sequenced reads were mapped to Refseq RNA sequences using bowtie v0.12.7 with parameters -q -e 100 -m 10 --best --strata
- Count reads for each genes
Supplementary Files (1)
Dataset Citations (1)
SRA Experiments (24) and Runs (24)
Total: 15358 MBSample attributes
Original files (1)
Runs (1)
| Run | Spots | Bases | Size (MB) | Files | Link |
|---|---|---|---|---|---|
| SRR1017149 | 16362053 | 736292385 | 522.38 | ALS14.fq.gz, SRR1017149, SRR1017149.sralite | SRA |
Sample attributes
Original files (1)
Runs (1)
| Run | Spots | Bases | Size (MB) | Files | Link |
|---|---|---|---|---|---|
| SRR1017150 | 15460643 | 695728935 | 495.19 | ALS20.fq.gz, SRR1017150, SRR1017150.sralite | SRA |
Sample attributes
Original files (1)
Runs (1)
| Run | Spots | Bases | Size (MB) | Files | Link |
|---|---|---|---|---|---|
| SRR1017151 | 13903116 | 625640220 | 443.3 | ALS25.fq.gz, SRR1017151, SRR1017151.sralite | SRA |
Sample attributes
Original files (1)
Runs (1)
| Run | Spots | Bases | Size (MB) | Files | Link |
|---|---|---|---|---|---|
| SRR1017152 | 17001078 | 765048510 | 543.84 | ALS2.fq.gz, SRR1017152, SRR1017152.sralite | SRA |
Sample attributes
Original files (1)
Runs (1)
| Run | Spots | Bases | Size (MB) | Files | Link |
|---|---|---|---|---|---|
| SRR1017153 | 18698729 | 841442805 | 594.96 | C9-1-Ctrl.fq.gz, SRR1017153, SRR1017153.sralite | SRA |
Sample attributes
Original files (1)
Runs (1)
| Run | Spots | Bases | Size (MB) | Files | Link |
|---|---|---|---|---|---|
| SRR1017154 | 23092404 | 1039158180 | 734.76 | C9-1-Mock.fq.gz, SRR1017154, SRR1017154.sralite | SRA |
Sample attributes
Original files (1)
Runs (1)
| Run | Spots | Bases | Size (MB) | Files | Link |
|---|---|---|---|---|---|
| SRR1017155 | 17900509 | 805522905 | 569.65 | C9-1-Tx.fq.gz, SRR1017155, SRR1017155.sralite | SRA |
Sample attributes
Original files (1)
Runs (1)
| Run | Spots | Bases | Size (MB) | Files | Link |
|---|---|---|---|---|---|
| SRR1017156 | 17524371 | 788596695 | 558.85 | C9-2-Ctrl.fq.gz, SRR1017156, SRR1017156.sralite | SRA |
Sample attributes
Original files (1)
Runs (1)
| Run | Spots | Bases | Size (MB) | Files | Link |
|---|---|---|---|---|---|
| SRR1017157 | 22101736 | 994578120 | 702.91 | C9-2-Mock.fq.gz, SRR1017157, SRR1017157.sralite | SRA |
Sample attributes
Original files (1)
Runs (1)
| Run | Spots | Bases | Size (MB) | Files | Link |
|---|---|---|---|---|---|
| SRR1017158 | 24009506 | 1080427770 | 762.66 | C9-2-Tx.fq.gz, SRR1017158, SRR1017158.sralite | SRA |
Sample attributes
Original files (1)
Runs (1)
| Run | Spots | Bases | Size (MB) | Files | Link |
|---|---|---|---|---|---|
| SRR1017159 | 27436986 | 1234664370 | 868.53 | C9-3-Ctrl.fq.gz, SRR1017159, SRR1017159.sralite | SRA |
Sample attributes
Original files (1)
Runs (1)
| Run | Spots | Bases | Size (MB) | Files | Link |
|---|---|---|---|---|---|
| SRR1017160 | 15871571 | 714220695 | 509.1 | C9-3-Mock.fq.gz, SRR1017160, SRR1017160.sralite | SRA |
Sample attributes
Original files (1)
Runs (1)
| Run | Spots | Bases | Size (MB) | Files | Link |
|---|---|---|---|---|---|
| SRR1017161 | 18236578 | 820646010 | 581.81 | C9-3-Tx.fq.gz, SRR1017161, SRR1017161.sralite | SRA |
Sample attributes
Original files (1)
Runs (1)
| Run | Spots | Bases | Size (MB) | Files | Link |
|---|---|---|---|---|---|
| SRR1017162 | 19745862 | 888563790 | 628.04 | C9-4-Ctrl.fq.gz, SRR1017162, SRR1017162.sralite | SRA |
Sample attributes
Original files (1)
Runs (1)
| Run | Spots | Bases | Size (MB) | Files | Link |
|---|---|---|---|---|---|
| SRR1017163 | 20022098 | 900994410 | 635.54 | C9-4-Mock.fq.gz, SRR1017163, SRR1017163.sralite | SRA |
Sample attributes
Original files (1)
Runs (1)
| Run | Spots | Bases | Size (MB) | Files | Link |
|---|---|---|---|---|---|
| SRR1017164 | 19031451 | 856415295 | 605.66 | C9-4-Tx.fq.gz, SRR1017164, SRR1017164.sralite | SRA |
Sample attributes
Original files (1)
Runs (1)
| Run | Spots | Bases | Size (MB) | Files | Link |
|---|---|---|---|---|---|
| SRR1017165 | 22057144 | 992571480 | 705.68 | Kin1ALS17-Ctrl.fq.gz, SRR1017165, SRR1017165.sralite | SRA |
Sample attributes
Original files (1)
Runs (1)
| Run | Spots | Bases | Size (MB) | Files | Link |
|---|---|---|---|---|---|
| SRR1017166 | 22005395 | 990242775 | 697.49 | Kin1ALS17-Tx.fq.gz, SRR1017166, SRR1017166.sralite | SRA |
Sample attributes
Original files (1)
Runs (1)
| Run | Spots | Bases | Size (MB) | Files | Link |
|---|---|---|---|---|---|
| SRR1017167 | 24091533 | 1084118985 | 769.04 | Kin1ALS6-Ctrl.fq.gz, SRR1017167, SRR1017167.sralite | SRA |
Sample attributes
Original files (1)
Runs (1)
| Run | Spots | Bases | Size (MB) | Files | Link |
|---|---|---|---|---|---|
| SRR1017168 | 23608468 | 1062381060 | 752.54 | Kin1ALS6-Tx.fq.gz, SRR1017168, SRR1017168.sralite | SRA |
Sample attributes
Original files (1)
Runs (1)
| Run | Spots | Bases | Size (MB) | Files | Link |
|---|---|---|---|---|---|
| SRR1017169 | 19256902 | 866560590 | 615.44 | Kin2ALS6-Ctrl.fastq, SRR1017169, SRR1017169.sralite | SRA |
Sample attributes
Original files (1)
Runs (1)
| Run | Spots | Bases | Size (MB) | Files | Link |
|---|---|---|---|---|---|
| SRR1017170 | 17727289 | 797728005 | 568.54 | Kin2ALS6-Tx.fq.gz, SRR1017170, SRR1017170.sralite | SRA |
Sample attributes
Original files (1)
Runs (1)
| Run | Spots | Bases | Size (MB) | Files | Link |
|---|---|---|---|---|---|
| SRR1017171 | 18850727 | 848282715 | 599.49 | Kin4ALS6-Ctrl.fq.gz, SRR1017171, SRR1017171.sralite | SRA |
Sample attributes
Original files (1)
Runs (1)
| Run | Spots | Bases | Size (MB) | Files | Link |
|---|---|---|---|---|---|
| SRR1017172 | 28162146 | 1267296570 | 892.56 | Kin4ALS6-Tx.fq.gz, SRR1017172, SRR1017172.sralite | SRA |
Linked Publications (1)
Data Files (30)
| Accession | File Name | Stored Type | Output Type | Mapping Assembly | Size | Download | |
|---|---|---|---|---|---|---|---|
| — | ALS14.fq.gz | RNA-Seq | 522.4 MB | link | |||
| — | ALS20.fq.gz | RNA-Seq | 495.2 MB | link | |||
| — | ALS25.fq.gz | RNA-Seq | 443.3 MB | link | |||
| — | ALS2.fq.gz | RNA-Seq | 543.8 MB | link | |||
| — | C9-1-Ctrl.fq.gz | RNA-Seq | 595.0 MB | link | |||
| — | C9-1-Mock.fq.gz | RNA-Seq | 734.8 MB | link | |||
| — | C9-1-Tx.fq.gz | RNA-Seq | 569.6 MB | link | |||
| — | C9-2-Ctrl.fq.gz | RNA-Seq | 558.8 MB | link | |||
| — | C9-2-Mock.fq.gz | RNA-Seq | 702.9 MB | link | |||
| — | C9-2-Tx.fq.gz | RNA-Seq | 762.7 MB | link | |||
| — | C9-3-Ctrl.fq.gz | RNA-Seq | 868.5 MB | link | |||
| — | C9-3-Mock.fq.gz | RNA-Seq | 509.1 MB | link | |||
| — | C9-3-Tx.fq.gz | RNA-Seq | 581.8 MB | link | |||
| — | C9-4-Ctrl.fq.gz | RNA-Seq | 628.0 MB | link | |||
| — | C9-4-Mock.fq.gz | RNA-Seq | 635.5 MB | link | |||
| — | C9-4-Tx.fq.gz | RNA-Seq | 605.7 MB | link | |||
| — | Kin1ALS17-Ctrl.fq.gz | RNA-Seq | 705.7 MB | link | |||
| — | Kin1ALS17-Tx.fq.gz | RNA-Seq | 697.5 MB | link | |||
| — | Kin1ALS6-Ctrl.fq.gz | RNA-Seq | 769.0 MB | link | |||
| — | Kin1ALS6-Tx.fq.gz | RNA-Seq | 752.5 MB | link | |||
| — | Kin2ALS6-Ctrl.fastq | RNA-Seq | 615.4 MB | link | |||
| — | Kin2ALS6-Tx.fq.gz | RNA-Seq | 568.5 MB | link | |||
| — | Kin4ALS6-Ctrl.fq.gz | RNA-Seq | 599.5 MB | link | |||
| — | Kin4ALS6-Tx.fq.gz | RNA-Seq | 892.6 MB | link | |||
| — | SRR1017149 | RNA-Seq | 522.4 MB | link | |||
| — | SRR1017151 | RNA-Seq | 443.3 MB | link | |||
| — | SRR1017157 | RNA-Seq | 702.9 MB | link | |||
| — | SRR1017158 | RNA-Seq | 762.7 MB | link | |||
| — | SRR1017159 | RNA-Seq | 868.5 MB | link | |||
| — | SRR1017160 | RNA-Seq | 509.1 MB | link |