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| Status |
Public on Jul 04, 2022 |
| Title |
Expression data of bone marrow-derived osteoclasts expressing wild-type or mutant PSS1 |
| Organism |
Mus musculus |
| Experiment type |
Expression profiling by array
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| Summary |
Phosphatidylserine (PS) is an acidic phospholipid that is involved in various cellular events. Heterologous dominant mutations have been identified in the gene encoding PS synthase 1 (PSS1) in patients of a congenital disease called Lenz-Majewski syndrome (LMS). LMS patients show various symptoms, including craniofacial/distal-limb bone dysplasia and progressive hyperostosis. The LMS-causing gain-of-function mutants of PSS1 (PSS1-LMS) have been shown to synthesize PS without control, but why the uncontrolled synthesis would lead to LMS is unknown.
We investigated the effect of PSS1-LMS(Q353R) on osteoclasts to elucidate the causative mechanism of LMS and found that PSS1-LMS inhibited the formation, multinucleation, and activity of osteoclasts. We used microarrays to comprehensively examine the effects of PSS1-LMS on osteoclast gene expression.
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| Overall design |
Bone marrow cells were treated with MCSF alone or MCSF and RANKL and infected one day later with a retroviral vector expressing wild-type or mutant PSS1. Cells were collected for microarray analysis on days 3 and 6 after MCSF/RANKL treatment.
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| Contributor(s) |
Sari S, Nozomu K |
| Citation missing |
Has this study been published? Please login to update or notify GEO. |
| Submission date |
Jul 01, 2022 |
| Last update date |
Jul 06, 2022 |
| Contact name |
Nozomu Kono |
| E-mail(s) |
nozomu@mol.f.u-tokyo.ac.jp
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| Organization name |
Universtiy of Tokyo
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| Street address |
Hongo 7-3-1, Bunkyo-ku
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| City |
Tokyo |
| ZIP/Postal code |
113-0033 |
| Country |
Japan |
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| Platforms (1) |
| GPL23038 |
[Clariom_S_Mouse] Affymetrix Clariom S Assay, Mouse (Includes Pico Assay) |
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| Samples (8)
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| GSM6284871 |
BMC at day3 after MCSF treatment |
| GSM6284872 |
BMC at day3 after MCSF&RANKL treatment |
| GSM6284873 |
PSS1-WT-expressing BMC at day3 after MCSF&RANKL treatment |
| GSM6284874 |
PSS1-LMS-expressing BMC at day3 after MCSF&RANKL treatment |
| GSM6284875 |
BMC at day6 after MCSF treatment |
| GSM6284876 |
BMC at day6 after MCSF&RANKL treatment |
| GSM6284877 |
PSS1-WT-expressing BMC at day6 after MCSF&RANKL treatment |
| GSM6284878 |
PSS1-LMS-expressing BMC at day6 after MCSF&RANKL treatment |
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| Relations |
| BioProject |
PRJNA854919 |
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