Metazoan nuclear genes for mitoribosomal protein S12

Gene
Z H ShahHoward T Jacobs

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.

References

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Sep 11, 1993·Nucleic Acids Research·N HoriK Matsubara
Oct 15, 1993·Proceedings of the National Academy of Sciences of the United States of America·L E AlksneJ R Warner
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Citations

Dec 3, 1999·Biochemical and Biophysical Research Communications·E Cavdar KocL L Spremulli
Mar 27, 2012·Nature Genetics·Eli A StahlRobert M Plenge
Jan 13, 2010·PloS One·Daniel J M Fernández-AyalaHoward T Jacobs
May 9, 2014·Disease Models & Mechanisms·Suvi VartiainenHoward T Jacobs
Dec 4, 2004·Biochimica Et Biophysica Acta·Howard T JacobsKevin M C O'Dell
May 12, 2019·G3 : Genes - Genomes - Genetics·Tiina S SalminenLaurie S Kaguni
Apr 15, 2000·The Journal of Biological Chemistry·T YokogawaK Watanabe
Aug 26, 2014·G3 : Genes - Genomes - Genetics·Kia K KemppainenHoward T Jacobs
Jul 1, 2019·G3 : Genes - Genomes - Genetics·Tiina S SalminenLaurie S Kaguni
Sep 19, 2001·Genetics·J M ToivonenH T Jacobs

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