MT-RNR1

mitochondrially encoded 12S RNA
Identifiers
Symbol MT-RNR1
Alt. symbols MTRNR1
Entrez 4549
HUGO 7470
Other data
Locus Chr. MT
Location of the MT-RNR1 gene on the H strand of the human mitochondrial genome. MT-RNR1, or RRNS, is one of the two mitochondrial ribosomal RNA genes (blue boxes).

Mitochondrially encoded 12S ribosomal RNA (often abbreviated as 12S or 12S rRNA) is a component of the small subunit (SSU) of the mitochondrial ribosome. In humans, 12S is encoded by the MT-RNR1 gene and is 959 nt long.[1] MT-RNR1 is one of the 37 genes contained in animal mitochondria genomes. Their 2 rRNA, 22 tRNA and 13 mRNA genes are very useful in phylogenetic studies, in particular the 12S and 16S rRNAs.

The 12S rRNA is the mitochondrial homologue of the prokaryotic 16S and eukaryotic nuclear 18S ribosomal RNAs.[2]

Mutations in the MT-RNR1 gene may be associated with hearing loss.[3]

References

  1. ↑ Anderson, S.; Bankier, A. T.; Barrell, B. G.; de Bruijn, M. H. L.; Coulson, A. R.; Drouin, J.; Eperon, I. C.; Nierlich, D. P.; Roe, B. A. (1981-04-09). "Sequence and organization of the human mitochondrial genome". Nature. 290 (5806): 457–465. doi:10.1038/290457a0.
  2. ↑ Eperon, I. C.; Anderson, S.; Nierlich, D. P. (1980-07-31). "Distinctive sequence of human mitochondrial ribosomal RNA genes". Nature. 286 (5772): 460–467. doi:10.1038/286460a0.
  3. ↑ Ballana E, Morales E, Rabionet R, et al. (March 2006). "Mitochondrial 12S rRNA gene mutations affect RNA secondary structure and lead to variable penetrance in hearing impairment". Biochem. Biophys. Res. Commun. 341 (4): 950–7. PMID 16458854. doi:10.1016/j.bbrc.2006.01.049.


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