Two distinct temperature-sensitive alleles at the elav locus of Drosophila are suppressed nonsense mutations of the same tryptophan codon.

Genetics
Marie-Laure SamsonK White

Abstract

The Drosophila gene elav encodes a 483-amino-acid-long nuclear RNA binding protein required for normal neuronal differentiation and maintenance. We molecularly analyzed the three known viable alleles of the gene, namely elavts1, elavFliJ1, and elavFliJ2, which manifest temperature-sensitive phenotypes. The modification of the elavFliJ1 allele corresponds to the change of glycine426 (GGA) into a glutamic acid (GAA). Surprisingly, elavts1 and elavFliJ2 were both found to have tryptophan419 (TGG) changed into two different stop codons, TAG and TGA, respectively. Unexpectedly, protein analysis from elavts1 and elavFliJ2 reveals not only the predicted 45-kD truncated ELAV protein due to translational truncation, but also a predominant full-size 50-kD ELAV protein, both at permissive and nonpermissive temperatures. The full-length protein present in elavts1 and elavFliJ2 can a priori be explained by one of several mechanisms leading to functional suppression of the nonsense mutation or by detection of a previously unrecognized ELAV isoform of similar size resulting from alternative splicing and unaffected by the stop codon. Experiments described in this article support the functional suppression of the nonsense mutation as the mechan...Continue Reading

Citations

Aug 21, 2007·The Journal of Comparative Neurology·A T BelayM B Sokolowski
Jan 22, 2008·Nucleic Acids Research·Gakuta Toba, Kalpana White
Jul 21, 2006·The Journal of Comparative Neurology·Orie Thomas ShaferPaul H Taghert
Sep 15, 1997·Nucleic Acids Research·W J MaH Furneaux
Nov 4, 2016·Nature·Lucia L Prieto-GodinoRichard Benton
Apr 7, 2010·Nature Methods·Andrea CalixtoMartin Chalfie
Dec 4, 2010·Developmental Dynamics : an Official Publication of the American Association of Anatomists·Stephan OhlerTakashi Suzuki
Oct 14, 2011·Genome Research·Irwin JungreisManolis Kellis

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