Loss of FTO antagonises Wnt signaling and leads to developmental defects associated with ciliopathies

PLoS One. 2014 Feb 4;9(2):e87662. doi: 10.1371/journal.pone.0087662. eCollection 2014.

Abstract

Common intronic variants in the Human fat mass and obesity-associated gene (FTO) are found to be associated with an increased risk of obesity. Overexpression of FTO correlates with increased food intake and obesity, whilst loss-of-function results in lethality and severe developmental defects. Despite intense scientific discussions around the role of FTO in energy metabolism, the function of FTO during development remains undefined. Here, we show that loss of Fto leads to developmental defects such as growth retardation, craniofacial dysmorphism and aberrant neural crest cells migration in Zebrafish. We find that the important developmental pathway, Wnt, is compromised in the absence of FTO, both in vivo (zebrafish) and in vitro (Fto(-/-) MEFs and HEK293T). Canonical Wnt signalling is down regulated by abrogated β-Catenin translocation to the nucleus whilst non-canonical Wnt/Ca(2+) pathway is activated via its key signal mediators CaMKII and PKCδ. Moreover, we demonstrate that loss of Fto results in short, absent or disorganised cilia leading to situs inversus, renal cystogenesis, neural crest cell defects and microcephaly in Zebrafish. Congruently, Fto knockout mice display aberrant tissue specific cilia. These data identify FTO as a protein-regulator of the balanced activation between canonical and non-canonical branches of the Wnt pathway. Furthermore, we present the first evidence that FTO plays a role in development and cilia formation/function.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alpha-Ketoglutarate-Dependent Dioxygenase FTO
  • Animals
  • Calcium Signaling
  • Calcium-Calmodulin-Dependent Protein Kinase Type 2 / metabolism
  • Cell Line
  • Cilia / genetics*
  • Cilia / metabolism*
  • Cilia / pathology
  • Congenital Abnormalities / genetics*
  • Congenital Abnormalities / metabolism*
  • Enzyme Activation
  • Female
  • Gene Knockout Techniques
  • Humans
  • Mice
  • Mice, Knockout
  • Morphogenesis / genetics
  • Organ Specificity / genetics
  • Phenotype
  • Proteins / genetics*
  • Wnt Signaling Pathway*
  • Zebrafish
  • beta Catenin / metabolism

Substances

  • Proteins
  • beta Catenin
  • Alpha-Ketoglutarate-Dependent Dioxygenase FTO
  • FTO protein, human
  • Calcium-Calmodulin-Dependent Protein Kinase Type 2

Associated data

  • GEO/GSE52572