Résumé :
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Communication n° 583. Biology, Rehovot, Israël Genetic studies in drosphila significantly contributed to our current knowledge in human developmental biology and genetic diseases. We have isolated and characterized the drosophila orthologue of the dystrophin gene, and found that the complex structure of the gene is highly conserved. The fly gene encodes three full-length dystrophin-like products and three truncated products consisting of the C-terminal and cysteine-rich domains with various extensions into the spectrin-like repeats domain. Interestingly, unlike the human truncated products, all three drosophila truncated products have large product-specific N-termini consisting of hundreds of amino acids. The evolutionary conservation of truncated products for >600 million years indicates that both the full-length products and the small products have important different functions. The effects of the inactivation of dystrophin gene products in mice and flies will be discussed. The dystrophin gene in drosophila and mammals have several exceptionally large introns. We have found that the promoters of the genes are located in the largest introns. The possible role of these introns, which are major contributors to the large sizes of the genes, will be discussed.
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