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A new mechanism of dominance in hypophosphatasia: the mutated protein can disturb the cell localization of the wild-type protein

Abstract : The dominant negative effect of mutations is rare in metabolic diseases and its mechanism has not been studied much. Hypophosphatasia, a bone inherited metabolic disorder, is a good model because the disease can be dominantly transmitted. The gene product activity depends on a homodimeric configuration and many mutations have been reported in the ALPL gene responsible for the disease. Using CFP/YFP-tagged-TNSALP plasmids, transfections in COS cells and confocal fluorescence analyses, we studied the point mutation G232V (c.746G>T). We showed that the G232V protein sequestrates some of the wild-type protein into the cells and prevents it from reaching the membrane where it plays its physiological role.
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https://hal-unilim.archives-ouvertes.fr/hal-00651340
Contributeur : Françoise Merigaud <>
Soumis le : mardi 13 décembre 2011 - 13:55:53
Dernière modification le : mardi 20 mars 2018 - 16:36:09

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Anne-Sophie Lia-Baldini, I. Brun-Heath, Claire Carrion, B. Simon-Bouy, J. L. Serre, et al.. A new mechanism of dominance in hypophosphatasia: the mutated protein can disturb the cell localization of the wild-type protein. Human Genetics, Springer Verlag, 2008, 123 (4), pp.429-32. ⟨10.1007/s00439-008-0480-1⟩. ⟨hal-00651340⟩

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