A mutation in the c-Fos gene associated with congenital generalized lipodystrophy

ABSTRACT: 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.

ORGANISM(S): Homo sapiens

PROVIDER: GSE39825 | GEO | 2013/08/07

SECONDARY ACCESSION(S): PRJNA171811

REPOSITORIES: GEO