Natural helix 9 mutants of PPARγ differently affect its transcriptional activity.

ABSTRACT:

Objective

The nuclear receptor PPARγ is the master regulator of adipocyte differentiation, distribution, and function. In addition, PPARγ induces terminal differentiation of several epithelial cell lineages, including colon epithelia. Loss-of-function mutations in PPARG result in familial partial lipodystrophy subtype 3 (FPDL3), a rare condition characterized by aberrant adipose tissue distribution and severe metabolic complications, including diabetes. Mutations in PPARG have also been reported in sporadic colorectal cancers, but the significance of these mutations is unclear. Studying these natural PPARG mutations provides valuable insights into structure-function relationships in the PPARγ protein. We functionally characterized a novel FPLD3-associated PPARγ L451P mutation in he

SUBMITTER: Broekema MF 

PROVIDER: S-EPMC6358588 | biostudies-literature | 2019 Feb

REPOSITORIES: biostudies-literature