title: The lethal mutation of the mouse wasted (wst) is a deletion that abolishes expression of a tissue-specific isoform of translation elongation factor 1alpha, encoded by the Eef1a2 gene.
abstract: We have identified the mutation responsible for the autosomal recessive wasted (wst) mutation of the mouse. Wasted mice are characterized by wasting and neurological and immunological abnormalities starting at 21 days after birth; they die by 28 days. A deletion of 15.8 kb in wasted mice abolishes expression of a gene called Eef1a2, encoding a protein that is 92% identical at the amino acid level to the translation elongation factor EF1alpha (locus Eef1a). We have found no evidence for the involvement of another gene in this deletion. Expression of Eef1a2 is reciprocal with that of Eef1a. Expression of Eef1a2 takes over from Eef1a in heart and muscle at precisely the time at which the wasted phenotype becomes manifest. These data suggest that there are tissue-specific forms of the translation elongation apparatus essential for postnatal survival in the mouse.
authors.affiliation: Human Genetics Unit, Department of Medicine, University of Edinburgh, Molecular Medicine Centre, Western General Hospital, Edinburgh EH4 2XU, United Kingdom.
authors.forename: D M
authors.initials: DM
authors.lastname: Chambers
authors.forename: J
authors.initials: J
authors.lastname: Peters
authors.forename: C M
authors.initials: CM
authors.lastname: Abbott
mesh_terms: D000375:Aging / Q000378:metabolism; D000818:Animals; D001483:Base Sequence; D018244:Chromosomes, Artificial, Yeast; D005091:Exons; D018507:Gene Expression Regulation, Developmental; D005804:Genes, Lethal; D005808:Genes, Recessive; D051379:Mice; D008815:Mice, Inbred Strains; D008817:Mice, Mutant Strains / Q000235:genetics*; D008969:Molecular Sequence Data; D009206:Myocardium / Q000378:metabolism; D020648:Peptide Elongation Factor 1; D010445:Peptide Elongation Factors / Q000096:biosynthesis / Q000172:deficiency / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011401:Promoter Regions, Genetic; D016415:Sequence Alignment; D017384:Sequence Deletion; D012689:Sequence Homology, Nucleic Acid
chemical_list: D020648:Peptide Elongation Factor 1; D010445:Peptide Elongation Factors