Functional conservation of the human EXT1 tumor suppressor gene and its Drosophila homolog tout velu

Ujjaini Dasgupta, Bharat L. Dixit, Melissa Rusch, Scott Selleck, Inge The

Research output: Contribution to journalArticlepeer-review

1 Scopus citations

Abstract

Heparan sulfate proteoglycans play a vital role in signaling of various growth factors in both Drosophila and vertebrates. In Drosophila, mutations in the tout velu (ttv) gene, a homolog of the mammalian EXT1 tumor suppressor gene, leads to abrogation of glycosaminoglycan (GAG) biosynthesis. This impairs distribution and signaling activities of various morphogens such as Hedgehog (Hh), Wingless (Wg), and Decapentaplegic (Dpp). Mutations in members of the exostosin (EXT) gene family lead to hereditary multiple exostosis in humans leading to bone outgrowths and tumors. In this study, we provide genetic and biochemical evidence that the human EXT1 (hEXT1) gene is conserved through species and can functionally complement the ttv mutation in Drosophila. The hEXT1 gene was able to rescue a ttv null mutant to adulthood and restore GAG biosynthesis.

Original languageEnglish (US)
Pages (from-to)555-561
Number of pages7
JournalDevelopment Genes and Evolution
Volume217
Issue number8
DOIs
StatePublished - Aug 2007

All Science Journal Classification (ASJC) codes

  • Genetics
  • Developmental Biology

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