Identification of Vangl2 and Scrb1 as planar polarity genes in mammals.

Mireille Montcouquiol, Rivka A. Rachel, Pamela J. Lanford, Neal G. Copeland, Nancy A. Jenkins, Matthew W. Kelley
Nature. 2003-04-30; 423(6936): 173-177
DOI: 10.1038/nature01618

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1. Nature. 2003 May 8;423(6936):173-7. Epub 2003 Apr 30.

Identification of Vangl2 and Scrb1 as planar polarity genes in mammals.

Montcouquiol M(1), Rachel RA, Lanford PJ, Copeland NG, Jenkins NA, Kelley MW.

Author information:
(1)Section on Developmental Neuroscience, NIDCD, National Institutes of Health,
Rockville, Maryland 20850, USA.

In mammals, an example of planar cell polarity (PCP) is the uniform orientation
of the hair cell stereociliary bundles within the cochlea. The PCP pathway of
Drosophila refers to a conserved signalling pathway that regulates the
coordinated orientation of cells or structures within the plane of an epithelium.
Here we show that a mutation in Vangl2, a mammalian homologue of the Drosophila
PCP gene Strabismus/Van Gogh, results in significant disruptions in the
polarization of stereociliary bundles in mouse cochlea as a result of defects in
the direction of movement and/or anchoring of the kinocilium within each hair
cell. Similar, but less severe, defects are observed in animals containing a
mutation in the LAP protein family gene Scrb1 (homologous with Drosophila
scribble). Polarization defects in animals heterozygous for Vangl2 and Scrb1 are
comparable with Vangl2 homozygotes, demonstrating genetic interactions between
these genes in the regulation of PCP in mammals. These results demonstrate a role
for the PCP pathway in planar polarization in mammals, and identify Scrb1 as a
PCP gene.

DOI: 10.1038/nature01618
PMID: 12724779 [Indexed for MEDLINE]

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