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| Status |
Public on Jul 14, 2023 |
| Title |
Mutations in MAFB that cause Multicentric Carpo Tarsal Osteolysis (MCTO) affect the transcriptome of M-MØ |
| Organism |
Homo sapiens |
| Experiment type |
Expression profiling by high throughput sequencing
|
| Summary |
Macrophage phenotypic and functional heterogeneity derives from tissue-specific transcriptional signatures shaped by the local microenvironment. Most studies addressing the molecular basis for macrophage heterogeneity have focused on murine cells, while the factors controlling the functional specialization of human macrophages are less known. M-CSF drives the generation of human monocyte-derived macrophages with a potent anti-inflammatory activity upon stimulation. The contribution of MAFB to the homeostatic/anti-inflammatory macrophage profile is further supported by the skewed polarization of monocyte-derived macrophages from Multicentric Carpo Tarsal Osteolysis (OMIM#166300), a pathology caused by mutations in the MAFB gene.
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| Overall design |
mRNA profiles of human macrophages differentiated with M-CSF from peripheral blood monocytes from one patient with MCTO and two healthy donors.
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| Contributor(s) |
Dominguez-Soto A, Vega MA, Corbí AL |
| Citation(s) |
36930354 |
| Submission date |
Aug 07, 2020 |
| Last update date |
Jul 15, 2023 |
| Contact name |
Miguel A Vega |
| E-mail(s) |
mavega@cib.csic.es
|
| Organization name |
CIB (CSIC)
|
| Street address |
Ramiro de Maeztu 9
|
| City |
Madrid |
| ZIP/Postal code |
28040 |
| Country |
Spain |
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| Platforms (1) |
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| Samples (4)
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| Relations |
| BioProject |
PRJNA655923 |
| SRA |
SRP276682 |
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