New insights into the regulatory function of CYFIP1 in the context of WAVE- and FMRP-containing complexes

Dis Model Mech. 2017 Apr 1;10(4):463-474. doi: 10.1242/dmm.025809. Epub 2017 Feb 9.

Abstract

Cytoplasmic FMRP interacting protein 1 (CYFIP1) is a candidate gene for intellectual disability (ID), autism, schizophrenia and epilepsy. It is a member of a family of proteins that is highly conserved during evolution, sharing high homology with its Drosophila homolog, dCYFIP. CYFIP1 interacts with the Fragile X mental retardation protein (FMRP, encoded by the FMR1 gene), whose absence causes Fragile X syndrome, and with the translation initiation factor eIF4E. It is a member of the WAVE regulatory complex (WRC), thus representing a link between translational regulation and the actin cytoskeleton. Here, we present data showing a correlation between mRNA levels of CYFIP1 and other members of the WRC. This suggests a tight regulation of the levels of the WRC members, not only by post-translational mechanisms, as previously hypothesized. Moreover, we studied the impact of loss of function of both CYFIP1 and FMRP on neuronal growth and differentiation in two animal models - fly and mouse. We show that these two proteins antagonize each other's function not only during neuromuscular junction growth in the fly but also during new neuronal differentiation in the olfactory bulb of adult mice. Mechanistically, FMRP and CYFIP1 modulate mTor signaling in an antagonistic manner, likely via independent pathways, supporting the results obtained in mouse as well as in fly at the morphological level. Collectively, our results illustrate a new model to explain the cellular roles of FMRP and CYFIP1 and the molecular significance of their interaction.

Keywords: Autism; BP1-BP2 deletion; CYFIP1; Fragile X; Intellectual disability.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adaptor Proteins, Signal Transducing / metabolism*
  • Animals
  • Cells, Cultured
  • Drosophila Proteins / metabolism*
  • Drosophila melanogaster / metabolism*
  • Epistasis, Genetic
  • Fragile X Mental Retardation Protein / metabolism*
  • Gene Knockout Techniques
  • Gene Silencing
  • Humans
  • Mice, Inbred C57BL
  • Multiprotein Complexes / metabolism*
  • Nerve Tissue Proteins / metabolism*
  • Neurons / metabolism
  • Olfactory Bulb / metabolism
  • RNA, Messenger / genetics
  • RNA, Messenger / metabolism
  • Wiskott-Aldrich Syndrome Protein Family / genetics
  • Wiskott-Aldrich Syndrome Protein Family / metabolism*

Substances

  • Adaptor Proteins, Signal Transducing
  • Cyfip1 protein, mouse
  • Drosophila Proteins
  • Multiprotein Complexes
  • Nerve Tissue Proteins
  • RNA, Messenger
  • Sra-1 protein, Drosophila
  • Wiskott-Aldrich Syndrome Protein Family
  • Fragile X Mental Retardation Protein