SF_FPLD2 iPSC: effects of lamin A mutations on lamin-genome interactions

Familial partial lipodystrophy of Dunnigan type (FPLD2) is a laminopathy that mainly affects adipose tissue, resulting in partial lipoatrophy and severe metabolic disorders. FPLD2 is caused by the p.R482W mutation in lamin A. The mutation impairs lamin A interaction with DNA and nucleosomes in vitro, and in patient cells results in dysmorphic nuclei. We rationalize that the p.R482W mutation causes tissue-specific alterations in lamin-genome contacts which reorganize chromatin, thereby mis-positioning developmental genes, deregulating transcription, and leading to defects in adipogenesis and fat tissue metabolism. We aim to uncover the role of the LMNA p.R482W mutation on the formation of lamina-associated domains (LADs) and the impact of defective mutant LADs on the commitment of progenitor cells to adipogenesis. Using FPLD2 patient cells, patient-derived iPS cells for disease modeling, and engineered adipose stem cells (ASCs), the project combines stem cell biology and high-throughput genomics (LMNA ChIP-seq, RNA-seq, bioinformatics).


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Disse dokumentene er kun synlige for prosjektleder, enhetens leder og forskningsadministrasjon.

Prosjektleder / prosjektansvarlig ved UiO

Philippe Collas

Ansvarlig enhet

Seksjon for Biokjemi



  • Forskerprosjekt

Helsefaglig forskning

  • Ja


  • Ikke besvart


  • Start: oktober 2015
  • Slutt: september 2018