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| Status |
Public on Aug 07, 2013 |
| Title |
A mutation in the c-Fos gene associated with congenital generalized lipodystrophy |
| Organism |
Homo sapiens |
| Experiment type |
Expression profiling by array
|
| Summary |
Lipodystrophies resemble syndromes of disturbed adipocyte biology or development and severe congenital forms (CGL) lack adipose tissue. The ubiquitous immediate-early gene c-fos is one essential transcription factor to initiate adipocyte differentiation. In a CGL patient we identified a single homozygous point mutation in the promoter of c-fos gene. The mutation facilitates the formation of a novel specific protein/ DNA complex and ubiquitously reduces basal and inducible c-fos transcription activity.
We used microarrays to determine differences in gene expression due to a repressive c-fos promoter mutation in a patient with CGL.
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| Overall design |
Cultued fibroblasts of non diabetic controls and a patient with c-fos promoter mutation were analyzed at identical passage number and growth conditions without further additional treatment.
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| Contributor(s) |
Knebel B, Kotzka J, Muller-Wieland D |
| Citation(s) |
23919306 |
| Submission date |
Aug 02, 2012 |
| Last update date |
Dec 13, 2018 |
| Contact name |
Birgit Knebel |
| Organization name |
German Diabetes Center
|
| Department |
Cinical Biochemistry and Pathobiochemistry
|
| Street address |
Auf'm Hennekamp 65
|
| City |
Duesseldorf |
| ZIP/Postal code |
40225 |
| Country |
Germany |
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| Platforms (1) |
| GPL8300 |
[HG_U95Av2] Affymetrix Human Genome U95 Version 2 Array |
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| Samples (10)
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| Relations |
| BioProject |
PRJNA171811 |
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