|
| Status |
Public on Jun 10, 2020 |
| Title |
MAU2 and NIPBL variants in Cornelia de Lange syndrome reveal MAU2-independent loading of cohesin and uncover protective mechanisms against early truncating mutations in NIPBL |
| Organism |
Homo sapiens |
| Experiment type |
Genome binding/occupancy profiling by high throughput sequencing
|
| Summary |
For its association with chromatin, the cohesin complex depends on a heterodimer formed by NIPBL and MAU2. Variants in NIPBL are the main cause of CdLS and result in NIPBL haploinsufficiency. Using CRISPR, we generated cells homozygous for an out-of-frame duplication in NIPBL. Remarkably, alternative translation initiation rescued NIPBL expression in these cells and produced an N-terminally truncated NIPBL that lacks MAU2-interaction domain, causing a dramatic reduction of MAU2 protein levels while a lot of NIPBL functions remain intact.
|
| |
|
| Overall design |
ChIP sequencing of SMC3, NIPBL wild type (WT) vs CRISPR edited cell HEK293T lines using HiSeq2500 sequencer. In total 9 samples are analysed. Smc3: WT vs CRISPR edited, 4 samples in total including input. NIPBL: WT vs CRISPR edited, 5 samples in total, including input.
|
| |
|
| Contributor(s) |
Parenti I, Mulugeta E, Watrin E, Kaiser FJ, Wendt KS |
| Citation(s) |
32433956 |
| |
| Submission date |
Nov 08, 2018 |
| Last update date |
Jun 10, 2020 |
| Contact name |
Eskeatnaf Mulugeta |
| E-mail(s) |
eskeww@gmail.com
|
| Phone |
0031646487835
|
| Organization name |
Erasmus University Medical Center Rotterdam (Erasmus MC)
|
| Department |
Cell Biology
|
| Street address |
Wytemaweg 80
|
| City |
Rotterdam |
| ZIP/Postal code |
3015CN |
| Country |
Netherlands |
| |
|
| Platforms (1) |
| GPL16791 |
Illumina HiSeq 2500 (Homo sapiens) |
|
| Samples (9)
|
| GSM3463660 |
I17-1066-08: Input clone N10 (c1 in manuscript) |
| GSM3463661 |
I17-1310-02: NIPBL ChIP HEK293T wt |
| GSM3463662 |
I17-1310-03: Input HEK293T wt |
| GSM3463663 |
I17-1310-05: NIPBL ChIP clone N10 (c1 in manuscript) |
| GSM3463664 |
I17-1310-06: Input clone N10 (c1 in manuscript) |
| GSM3463665 |
I17-1310-08: NIPBL ChIP clone 2.5 (c2 in manuscript) |
|
| Relations |
| BioProject |
PRJNA504541 |
| SRA |
SRP168166 |
Less...
More...