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MT-RNR1

February 16, 2024

Mitochondrially encoded 12S ribosomal RNA (often abbreviated as 12S or 12S rRNA) is the SSU rRNA of the mitochondrial ribosome. In humans, 12S is encoded by the MT-RNR1 gene and is 959 nucleotides long.[1][2][3] 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.[4] Mutations in the MT-RNR1 gene may be associated with hearing loss.[5] The rRNA gene also encodes a peptide MOTS-c, also known as Mitochondrial-derived peptide MOTS-c or Mitochondrial open reading frame of the 12S rRNA-c.

mitochondrially encoded 12S RNA
Identifiers
SymbolMT-RNR1
Alt. symbolsMTRNR1
NCBI gene4549
HGNC7470
Other data
LocusChr. MT [1]
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).

Structure edit

The MT-RNR1 gene is located on the p arm of the mitochondrial DNA at position 12 and it spans 953 base pairs.[6]

Function edit

The MT-RNR1 gene encodes for an rRNA responsible for regulating insulin sensitivity and metabolic homeostasis. The protein acts as an inhibitor of the folate cycle, thereby reducing de novo purine biosynthesis which leads to the accumulation of the de novo purine synthesis intermediate 5-aminoimidazole-4-carboxamide (AICAR) and the activation of the metabolic regulator 5'-AMP-activated protein kinase (AMPK). The protein also protects against age-dependent and diet-induced insulin resistance as well as diet-induced obesity.[3][2]

Clinical significance edit

Nonsyndromic Hearing Loss and Deafness, Mitochondrial edit

Pathogenic mutations in the MT-RNR1 gene have been found to cause late-onset Mitochondrial Nonsyndromic Hearing Loss and Deafness with predisposed aminoglycoside ototoxicities.[7] Nonsyndromic Deafness is characterized by a partial or total sensorineural hearing loss (SNHL) of variable onset and severity that is not associated with other signs and symptoms.[8] Most forms of nonsyndromic deafness are associated with permanent hearing loss caused by damage to structures in the inner ear.[2][3] Mutations of 1494C>T, 1555A>G, and 1095T>C in the MT-RNR1 gene have been identified to cause the hearing loss.[9][10][11]

Complex IV Deficiency edit

MT-RNR1 mutations have been associated with complex IV deficiency of the mitochondrial respiratory chain, also known as the cytochrome c oxidase deficiency. Cytochrome c oxidase deficiency is a rare genetic condition that can affect multiple parts of the body, including skeletal muscles, the heart, the brain, or the liver. Common clinical manifestations include myopathy, hypotonia, and encephalomyopathy, lactic acidosis, and hypertrophic cardiomyopathy.[12] A 9952G>A mutation was found in a patient with the deficiency.[13]

References edit

  1. ^ Anderson S, Bankier AT, Barrell BG, de Bruijn MH, Coulson AR, Drouin J, Eperon IC, Nierlich DP, Roe BA, Sanger F, Schreier PH, Smith AJ, Staden R, Young IG (April 1981). "Sequence and organization of the human mitochondrial genome". Nature. 290 (5806): 457–465. Bibcode:1981Natur.290..457A. doi:10.1038/290457a0. PMID 7219534. S2CID 4355527.
  2. ^ a b c "UniProt: the universal protein knowledgebase". Nucleic Acids Research. 45 (D1): D158–D169. January 2017. doi:10.1093/nar/gkw1099. PMC 5210571. PMID 27899622.
  3. ^ a b c "MT-RNR1 - Mitochondrial-derived peptide MOTS-c - Homo sapiens (Human) - MT-RNR1 gene & protein". Retrieved 2018-08-28.  This article incorporates text available under the CC BY 4.0 license.
  4. ^ Eperon IC, Anderson S, Nierlich DP (July 1980). "Distinctive sequence of human mitochondrial ribosomal RNA genes". Nature. 286 (5772): 460–467. Bibcode:1980Natur.286..460E. doi:10.1038/286460a0. PMID 6157106. S2CID 4262269.
  5. ^ Ballana E, Morales E, Rabionet R, Montserrat B, Ventayol M, Bravo O, Gasparini P, Estivill X (March 2006). "Mitochondrial 12S rRNA gene mutations affect RNA secondary structure and lead to variable penetrance in hearing impairment". Biochemical and Biophysical Research Communications. 341 (4): 950–957. doi:10.1016/j.bbrc.2006.01.049. PMID 16458854.
  6. ^ "MT-RNR1 mitochondrially encoded 12S RNA [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov.
  7. ^ Usami, Shin-ichi; Nishio, Shin-ya (1993). "Nonsyndromic Hearing Loss and Deafness, Mitochondrial". GeneReviews®. University of Washington, Seattle. PMID 20301595.
  8. ^ Reference, Genetics Home. "Nonsyndromic hearing loss". Genetics Home Reference.
  9. ^ Li R, Greinwald JH, Yang L, Choo DI, Wenstrup RJ, Guan MX (August 2004). "Molecular analysis of the mitochondrial 12S rRNA and tRNASer(UCN) genes in paediatric subjects with non-syndromic hearing loss". Journal of Medical Genetics. 41 (8): 615–620. doi:10.1136/jmg.2004.020230. PMC 1735864. PMID 15286157.
  10. ^ Zhao H, Li R, Wang Q, Yan Q, Deng JH, Han D, Bai Y, Young WY, Guan MX (January 2004). "Maternally inherited aminoglycoside-induced and nonsyndromic deafness is associated with the novel C1494T mutation in the mitochondrial 12S rRNA gene in a large Chinese family". American Journal of Human Genetics. 74 (1): 139–152. doi:10.1086/381133. PMC 1181901. PMID 14681830.
  11. ^ Yao YG, Salas A, Bravi CM, Bandelt HJ (June 2006). "A reappraisal of complete mtDNA variation in East Asian families with hearing impairment". Human Genetics. 119 (5): 505–515. doi:10.1007/s00439-006-0154-9. PMID 16528519. S2CID 21173284.
  12. ^ Reference, Genetics Home. "Cytochrome c oxidase deficiency". Genetics Home Reference.  This article incorporates text from this source, which is in the public domain.
  13. ^ Hanna MG, Nelson IP, Rahman S, Lane RJ, Land J, Heales S, Cooper MJ, Schapira AH, Morgan-Hughes JA, Wood NW (July 1998). "Cytochrome c oxidase deficiency associated with the first stop-codon point mutation in human mtDNA". American Journal of Human Genetics. 63 (1): 29–36. doi:10.1086/301910. PMC 1377234. PMID 9634511.

External links edit

  • GeneReviews/NCBI/NIH/UW entry on Nonsyndromic Hearing Loss and Deafness, Mitochondrial

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

February 16, 2024
rnr1, mitochondrially, encoded, ribosomal, often, abbreviated, rrna, rrna, mitochondrial, ribosome, humans, encoded, gene, nucleotides, long, genes, contained, animal, mitochondria, genomes, their, rrna, trna, mrna, genes, very, useful, phylogenetic, studies, . Mitochondrially encoded 12S ribosomal RNA often abbreviated as 12S or 12S rRNA is the SSU rRNA of the mitochondrial ribosome In humans 12S is encoded by the MT RNR1 gene and is 959 nucleotides long 1 2 3 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 4 Mutations in the MT RNR1 gene may be associated with hearing loss 5 The rRNA gene also encodes a peptide MOTS c also known as Mitochondrial derived peptide MOTS c or Mitochondrial open reading frame of the 12S rRNA c mitochondrially encoded 12S RNAIdentifiersSymbolMT RNR1Alt symbolsMTRNR1NCBI gene4549HGNC7470Other dataLocusChr MT 1 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 Contents 1 Structure 2 Function 3 Clinical significance 3 1 Nonsyndromic Hearing Loss and Deafness Mitochondrial 3 2 Complex IV Deficiency 4 References 5 External linksStructure editThe MT RNR1 gene is located on the p arm of the mitochondrial DNA at position 12 and it spans 953 base pairs 6 Function editThe MT RNR1 gene encodes for an rRNA responsible for regulating insulin sensitivity and metabolic homeostasis The protein acts as an inhibitor of the folate cycle thereby reducing de novo purine biosynthesis which leads to the accumulation of the de novo purine synthesis intermediate 5 aminoimidazole 4 carboxamide AICAR and the activation of the metabolic regulator 5 AMP activated protein kinase AMPK The protein also protects against age dependent and diet induced insulin resistance as well as diet induced obesity 3 2 Clinical significance editNonsyndromic Hearing Loss and Deafness Mitochondrial edit Pathogenic mutations in the MT RNR1 gene have been found to cause late onset Mitochondrial Nonsyndromic Hearing Loss and Deafness with predisposed aminoglycoside ototoxicities 7 Nonsyndromic Deafness is characterized by a partial or total sensorineural hearing loss SNHL of variable onset and severity that is not associated with other signs and symptoms 8 Most forms of nonsyndromic deafness are associated with permanent hearing loss caused by damage to structures in the inner ear 2 3 Mutations of 1494C gt T 1555A gt G and 1095T gt C in the MT RNR1 gene have been identified to cause the hearing loss 9 10 11 Complex IV Deficiency edit MT RNR1 mutations have been associated with complex IV deficiency of the mitochondrial respiratory chain also known as the cytochrome c oxidase deficiency Cytochrome c oxidase deficiency is a rare genetic condition that can affect multiple parts of the body including skeletal muscles the heart the brain or the liver Common clinical manifestations include myopathy hypotonia and encephalomyopathy lactic acidosis and hypertrophic cardiomyopathy 12 A 9952G gt A mutation was found in a patient with the deficiency 13 References edit Anderson S Bankier AT Barrell BG de Bruijn MH Coulson AR Drouin J Eperon IC Nierlich DP Roe BA Sanger F Schreier PH Smith AJ Staden R Young IG April 1981 Sequence and organization of the human mitochondrial genome Nature 290 5806 457 465 Bibcode 1981Natur 290 457A doi 10 1038 290457a0 PMID 7219534 S2CID 4355527 a b c UniProt the universal protein knowledgebase Nucleic Acids Research 45 D1 D158 D169 January 2017 doi 10 1093 nar gkw1099 PMC 5210571 PMID 27899622 a b c MT RNR1 Mitochondrial derived peptide MOTS c Homo sapiens Human MT RNR1 gene amp protein Retrieved 2018 08 28 nbsp This article incorporates text available under the CC BY 4 0 license Eperon IC Anderson S Nierlich DP July 1980 Distinctive sequence of human mitochondrial ribosomal RNA genes Nature 286 5772 460 467 Bibcode 1980Natur 286 460E doi 10 1038 286460a0 PMID 6157106 S2CID 4262269 Ballana E Morales E Rabionet R Montserrat B Ventayol M Bravo O Gasparini P Estivill X March 2006 Mitochondrial 12S rRNA gene mutations affect RNA secondary structure and lead to variable penetrance in hearing impairment Biochemical and Biophysical Research Communications 341 4 950 957 doi 10 1016 j bbrc 2006 01 049 PMID 16458854 MT RNR1 mitochondrially encoded 12S RNA Homo sapiens human Gene NCBI www ncbi nlm nih gov Usami Shin ichi Nishio Shin ya 1993 Nonsyndromic Hearing Loss and Deafness Mitochondrial GeneReviews University of Washington Seattle PMID 20301595 Reference Genetics Home Nonsyndromic hearing loss Genetics Home Reference Li R Greinwald JH Yang L Choo DI Wenstrup RJ Guan MX August 2004 Molecular analysis of the mitochondrial 12S rRNA and tRNASer UCN genes in paediatric subjects with non syndromic hearing loss Journal of Medical Genetics 41 8 615 620 doi 10 1136 jmg 2004 020230 PMC 1735864 PMID 15286157 Zhao H Li R Wang Q Yan Q Deng JH Han D Bai Y Young WY Guan MX January 2004 Maternally inherited aminoglycoside induced and nonsyndromic deafness is associated with the novel C1494T mutation in the mitochondrial 12S rRNA gene in a large Chinese family American Journal of Human Genetics 74 1 139 152 doi 10 1086 381133 PMC 1181901 PMID 14681830 Yao YG Salas A Bravi CM Bandelt HJ June 2006 A reappraisal of complete mtDNA variation in East Asian families with hearing impairment Human Genetics 119 5 505 515 doi 10 1007 s00439 006 0154 9 PMID 16528519 S2CID 21173284 Reference Genetics Home Cytochrome c oxidase deficiency Genetics Home Reference nbsp This article incorporates text from this source which is in the public domain Hanna MG Nelson IP Rahman S Lane RJ Land J Heales S Cooper MJ Schapira AH Morgan Hughes JA Wood NW July 1998 Cytochrome c oxidase deficiency associated with the first stop codon point mutation in human mtDNA American Journal of Human Genetics 63 1 29 36 doi 10 1086 301910 PMC 1377234 PMID 9634511 External links editGeneReviews NCBI NIH UW entry on Nonsyndromic Hearing Loss and Deafness Mitochondrial This article incorporates text from the United States National Library of Medicine which is in the public domain Retrieved from https en wikipedia org w index php title MT RNR1 amp oldid 1196634326, wikipedia, wiki, book, books, library,

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