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Cerebral hypoplasia and craniofacial defects in mice lacking heparan sulfate Ndst1 gene function

Grobe, Kay, Inatani, Masaru, Pallerla, Srinivas R., Castagnola, Jan, Yamaguchi, Yu, Esko, Jeffrey D.·2005·Development
DOI 10.1242/dev.01935
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Abstract

Mutant mice bearing a targeted disruption of the heparan sulfate (HS)modifying enzyme GlcNAc N-deacetylase/N-sulfotransferase 1 (Ndst1) exhibit severe developmental defects of the forebrain and forebrain-derived structures, including cerebral hypoplasia, lack of olfactory bulbs, eye defects and axon guidance errors. Neural crest-derived facial structures are also severely affected. We show that properly synthesized heparan sulfate is required for the normal development of the brain and face, and that Ndst1 is a modifier of heparan sulfate-dependent growth factor/morphogen signalling in those tissues. Among the multiple heparan sulfate-binding factors potentially affected in Ndst1 mutant embryos, the facial phenotypes are consistent with impaired sonic hedgehog (Shh) and fibroblast growth factor(Fgf) interaction with mutant heparan sulfate. Most importantly, the data suggest the possibility that defects in heparan sulfate synthesis could give rise to or contribute to a number of developmental brain and facial defects in humans.

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Metadata

Authors
Grobe, K., Inatani, M., Pallerla, S. R., Castagnola, J., Yamaguchi, Y., & Esko, J. D.
Venue
Development
Publisher
The Company of Biologists
Published
2005-08-15
Volume
132
Issue
16
Pages
3777-3786
ISSN
  • 1477-9129
  • 0950-1991
DOI
10.1242/dev.01935
Cited by
173
References
3
Language
en

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