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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Gene Review: 

Ext1  -  exostoses (multiple) 1

Mus musculus

Synonyms: AA409028, Exostosin-1, Glucuronosyl-N-acetylglucosaminyl-proteoglycan/N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase, Multiple exostoses protein 1 homolog
 
 
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High impact information on Ext1

  • The importance of proteoglycans for proliferation increases during development in parallel with increasing expression of the glycosyltransferase genes, exostosin 1 and exostosin 2 [1].
  • The average molecular sizes of the heparan sulfate chains from wild type and Ext1 mutant embryonic fibroblasts were estimated to be around 70 and 20 kDa, respectively [2].
  • Metabolic labeling and immunohistochemistry revealed that Ext1 mutant fibroblasts still produced small amounts of heparan sulfate [2].
  • Thyroid hormone negatively regulated expression of the core protein Gpc6, the polymerase Ext1, and the modification enzyme Hs6st2 [3].
  • Using high resolution backcross mapping, the murine Ext1 was mapped at 26.55 cM between D15Mit143 and D15Mit153 on mouse chromosome 15 [4].
 

Biological context of Ext1

  • The murine Ext1 gene shows a high level of sequence similarity with its human homologue and is part of a conserved linkage group on chromosome 15 [4].
 

Anatomical context of Ext1

  • In contrast, we show that reduced HS synthesis in mice carrying a hypomorphic mutation in Ext1 results in an elevated range of Indian hedgehog (Ihh) signaling during embryonic chondrocyte differentiation [5].
 

Associations of Ext1 with chemical compounds

  • Ext1-dependent heparan sulfate regulates the range of Ihh signaling during endochondral ossification [5].
 

Analytical, diagnostic and therapeutic context of Ext1

References

  1. Cerebellar proteoglycans regulate sonic hedgehog responses during development. Rubin, J.B., Choi, Y., Segal, R.A. Development (2002) [Pubmed]
  2. Embryonic fibroblasts with a gene trap mutation in Ext1 produce short heparan sulfate chains. Yamada, S., Busse, M., Ueno, M., Kelly, O.G., Skarnes, W.C., Sugahara, K., Kusche-Gullberg, M. J. Biol. Chem. (2004) [Pubmed]
  3. Thyroid hormone regulates heparan sulfate proteoglycan expression in the growth plate. Bassett, J.H., Swinhoe, R., Chassande, O., Samarut, J., Williams, G.R. Endocrinology (2006) [Pubmed]
  4. The murine Ext1 gene shows a high level of sequence similarity with its human homologue and is part of a conserved linkage group on chromosome 15. Lohmann, D.R., Buiting, K., Lüdecke, H.J., Horsthemke, B. Cytogenet. Cell Genet. (1997) [Pubmed]
  5. Ext1-dependent heparan sulfate regulates the range of Ihh signaling during endochondral ossification. Koziel, L., Kunath, M., Kelly, O.G., Vortkamp, A. Dev. Cell (2004) [Pubmed]
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