GONUTS has been updated to MW1.31 Most things seem to be working but be sure to report problems.
PMID:16020517
| Citation |
Grobe, K, Inatani, M, Pallerla, SR, Castagnola, J, Yamaguchi, Y and Esko, JD (2005) Cerebral hypoplasia and craniofacial defects in mice lacking heparan sulfate Ndst1 gene function. Development 132:3777-86 |
|---|---|
| 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. |
| Links |
PubMed Online version:10.1242/dev.01935 |
| Keywords |
Animals; Apoptosis; Brain/abnormalities; Brain/anatomy & histology; Brain/growth & development; Brain/physiology; Cell Proliferation; Craniofacial Abnormalities/genetics; Embryo, Mammalian/anatomy & histology; Embryo, Mammalian/physiology; Fibroblast Growth Factors/metabolism; Gene Targeting; Hedgehog Proteins; Heparitin Sulfate/genetics; Heparitin Sulfate/metabolism; Humans; In Situ Hybridization; Mice; Mice, Knockout; Morphogenesis; Phenotype; Signal Transduction/physiology; Sulfotransferases/genetics; Sulfotransferases/metabolism; Trans-Activators/metabolism |
| edit table |
Significance
Annotations
| Gene product | Qualifier | GO ID | GO term name | Evidence Code | with/from | Aspect | Notes | Status |
|---|---|---|---|---|---|---|---|---|
| edit table |
See also
References
See Help:References for how to manage references in GONUTS.
