|
| Status |
Public on Apr 25, 2018 |
| Title |
The multiple myeloma risk allele at 5q15 lowers ELL2 expression and increases ribosomal gene expression [ELL2 KO] |
| Organism |
Homo sapiens |
| Experiment type |
Expression profiling by high throughput sequencing
|
| Summary |
To understand the biological mechanism of ELL2 in multiple myeloma (MM), we show that the MM risk allele lowers ELL2 expression in CD138+ plasma cells (Pcombined=2.5×10-27; bcombined=-0.24 s.d.), but not in peripheral blood or other tissues. Consistent with this, several variants representing the MM risk allele map to regulatory genomic regions, and three yield reduced transcriptional activity in plasmocytoma cell lines. One of these (rs3777189-C) co-locates with the best-supported lead variants for ELL2 expression and MM risk, and reduces binding of MAFF/G/K family transcription factors. Moreover, further analysis reveals that the MM risk allele associates with upregulation of gene sets related to ribosome biogenesis, and knockout/knockdown and rescue experiments in plasmocytoma cell lines support a cause-effect relationship.
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| |
|
| Overall design |
knock out ELL2 in L363 cells using CRISPR-Cas9
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| |
|
| Contributor(s) |
Ali M, Nilsson B |
| Citation(s) |
29695719 |
| |
| Submission date |
Feb 27, 2018 |
| Last update date |
Mar 26, 2019 |
| Contact name |
Björn Nilsson |
| E-mail(s) |
bjorn.nilsson@med.lu.se
|
| Organization name |
Lund University
|
| Department |
Hematology and Transfusion Medicine
|
| Street address |
BMC
|
| City |
Lund |
| ZIP/Postal code |
22184 |
| Country |
Sweden |
| |
|
| Platforms (1) |
| GPL18573 |
Illumina NextSeq 500 (Homo sapiens) |
|
| Samples (6)
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| This SubSeries is part of SuperSeries: |
| GSE111211 |
The multiple myeloma risk allele at 5q15 lowers ELL2 expression and increases ribosomal gene expression |
|
| Relations |
| BioProject |
PRJNA436147 |
| SRA |
SRP133591 |
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