ANKS6 is the critical activator of NEK8 kinase in embryonic situs determination and organ patterning

Nat Commun. 2015 Jan 20:6:6023. doi: 10.1038/ncomms7023.

Abstract

The ciliary kinase NEK8 plays a critical role in situs determination and cystic kidney disease, yet its exact function remains unknown. In this study, we identify ANKS6 as a target and activator of NEK8. ANKS6 requires NEK8 for localizing to the ciliary inversin compartment (IC) and activates NEK8 by binding to its kinase domain. Here we demonstrate the functional importance of this interaction through the analysis of two novel mouse mutations, Anks6(Streaker) and Nek8(Roc). Both display heterotaxy, cardiopulmonary malformations and cystic kidneys, a syndrome also characteristic of mutations in Invs and Nphp3, the other known components of the IC. The Anks6(Strkr) mutation decreases ANKS6 interaction with NEK8, precluding NEK8 activation. The Nek8(Roc) mutation inactivates NEK8 kinase function while preserving ANKS6 localization to the IC. Together, these data reveal the crucial role of NEK8 kinase activation within the IC, promoting proper left-right patterning, cardiopulmonary development and renal morphogenesis.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Blotting, Western
  • Body Patterning / genetics
  • Body Patterning / physiology*
  • Carrier Proteins / genetics
  • Carrier Proteins / metabolism*
  • Cell Line
  • Female
  • Humans
  • Kinesins / genetics
  • Kinesins / metabolism
  • Male
  • Mice
  • Morphogenesis / genetics
  • Morphogenesis / physiology
  • Mutation
  • NIMA-Related Kinases
  • Nuclear Proteins / genetics
  • Nuclear Proteins / metabolism*
  • Protein Serine-Threonine Kinases / genetics
  • Protein Serine-Threonine Kinases / metabolism*
  • Rats
  • Transcription Factors / genetics
  • Transcription Factors / metabolism

Substances

  • ANKS6 protein, mouse
  • Anks6 protein, rat
  • Carrier Proteins
  • INVS protein, human
  • Nuclear Proteins
  • Transcription Factors
  • NIMA-Related Kinases
  • Nek8 protein, mouse
  • Protein Serine-Threonine Kinases
  • nephrocystin-3, human
  • Kinesins