Microcephaly: STIL(l) a tale of too many centrosomes

Curr Biol. 2014 Feb 17;24(4):R162-4. doi: 10.1016/j.cub.2013.12.054.

Abstract

Centrosome mutations associated with microcephaly are normally thought to result in loss-of-function phenotypes. A new study shows, however, that mutations found in the human microcephaly STIL gene cause centrosome amplification, suggesting a direct link between the presence of extra centrosomes and the establishment of this disease.

Publication types

  • Comment

MeSH terms

  • Centrioles / genetics*
  • Humans
  • Intracellular Signaling Peptides and Proteins / metabolism*
  • Mutation*

Substances

  • Intracellular Signaling Peptides and Proteins
  • STIL protein, human