title: Metazoan nuclear genes for mitoribosomal protein S12.
abstract: We have characterized nuclear genes for mitoribosomal protein S12 (mt-rps12) a major component of the ribosomal accuracy centre, in human, mouse and Drosophila melanogaster. In human and Drosophila, and probably also in mouse, there is a single intron within the coding region, located in the mitochondrial targeting pre-sequence. In humans, the mRNA structure is highly suggestive of translational regulation. In all three species, there is an amino-acid substitution with respect to eubacterial homologues in a residue implicated in aminoglycoside resistance. The only viable mutant allele of the Drosophila gene, associated with a bang-sensitive phenotype (paralysis upon mechanical vibration, arising from a mechanoreceptor cell defect) also has a novel substitution in a conserved region implicated in translational fidelity. Given the involvement of the mitoribosomal accuracy centre in human sensorineural deafness by virtue of rRNA mutations, our results indicate that this fly mutant may be a useful animal model of this disorder, and earmark the gene for mt-rps12 as a candidate in human hearing impairment.
authors.affiliation: Institute of Medical Technology, University of Tampere, Finland.
authors.forename: Z H
authors.initials: ZH
authors.lastname: Shah
authors.forename: K M
authors.initials: KM
authors.lastname: O'Dell
authors.forename: S C
authors.initials: SC
authors.lastname: Miller
authors.forename: X
authors.initials: X
authors.lastname: An
authors.forename: H T
authors.initials: HT
authors.lastname: Jacobs
mesh_terms: D016475:3T3 Cells; D000483:Alleles; D000595:Amino Acid Sequence; D000818:Animals; D002467:Cell Nucleus / Q000235:genetics*; D003001:Cloning, Molecular; D004331:Drosophila melanogaster / Q000235:genetics; D006801:Humans; D051379:Mice; D008969:Molecular Sequence Data; D009154:Mutation; D012269:Ribosomal Proteins / Q000235:genetics*; D017386:Sequence Homology, Amino Acid
chemical_list: D012269:Ribosomal Proteins; C034212:ribosomal protein S12