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

Véronique Marthiens; Renata Basto

doi:10.1016/j.cub.2013.12.054

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.

Authors

Véronique Marthiens¹, Renata Basto²

Affiliations

¹ UMR144, CNRS- Institut Curie, 12 rue Lhomond, 75005, Paris, France.
² UMR144, CNRS- Institut Curie, 12 rue Lhomond, 75005, Paris, France. Electronic address: [email protected].

PMID: 24556440
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