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. 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.

ORGANISM(S): Homo sapiens

SUBMITTER: Birgit Knebel 

PROVIDER: E-GEOD-39825 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress