作者: Jaime García-Añoveros , Charles Ma , Martin Chalfie
DOI: 10.1016/S0960-9822(95)00085-6
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摘要: Abstract Background: Rare, dominant mutations in the degenerin genes of Caenorhabditis elegans (deg-1, mec-4 and mec-10) cause neuronal degeneration. The extensive sequence similarity between degenerins mammalian that encode subunits amiloride-sensitive sodium channel from kidney, colon lung suggests C. form ion channels. As mec-10 are needed for reception gentle touch stimuli, they may contribute to a mechanosensory channel. All degeneration-causing affect equivalent residues hydrophobic region is structurally similar H5 domain several channels, so could lining. Increased activity underlie resulting degeneration, which affected cells vacuolate swell. Results We now demonstrate missense change predicted extracellular proteins encoded by deg-1 causes cell death caused mutations. mutation lies within 22 amino-acid found all sequences have been published, but not proteins. Deletion nine amino acids surrounding site also either pore-lining or regions suppressed additional, dominantly acting substitute larger smaller Conclusion Our data suggest putative negatively regulates activity, perhaps gating this only proteins, it allow more rapid regulation nematode be them function mechanosensation. suppressor mutations, adding pore lining, prevent degeneration blocking multisubunit