MT-RNR1

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????	MT-RNR1
??????? ????	MTRNR1
?????	4549
HUGO	7470
??????? ????
??????	Chr. MT [?]

??????? ???? ???????? ???? ????????? ( ??????? : Mitochondrially encoded 12S ribosomal RNA ) ???? ?? ??????? ???? ??????? ????????? ??? ?? ?? ????? ???? ?? ≪MT-RNR1≫ ???????? ??????. ??? ??? ??? ??? ????????? ??? ^[?]^[?]^[?] ? ?? ??? ????? ???? ???????? ???????????? ?? ?????? ????? ?? ???? ???? ? ?? ??? ??? ??? ????? ???????. ^[?]

??????? ???? ???????? ???? ?????????? ??????? ??????????? ??????? ???????? ???? ?? ???????????? ? ??????? ???????? ???? ?? ????????????? . ^[?] ??? ?? ?? ?? ≪MT-RNR1≫ ?? ???? ???????? ?? ?????? ???. ^[?]

?????? [ ?????? ]

?? ≪MT-RNR1≫ ???????? ?? ??????? ?????? ?? ?? ?????? ??????? ?? ??????? ? ?????????? ???????? ??? ????. ??????? ??? ???? ?????????? ????? ????? ??? ? ?? ????? ?????? ????? ???? ?? ???? ?????? ? ???? ?????? ????? ???? ≪ ?-??????????????-?-?????????? ≫ (AICAR) ? ?????? ≪ ????????????? ?????????-?'-??????? ????????? ≫ (AMPK) ???? ???????. ??? ??????? ?????? ?? ???? ?????? ?? ??????? ?????? ?? ?? ? ???? ????? ? ?????? ???? ???? ?? ???? ????? ??????? ??????. ^[?]^[?]

????? ?????? [ ?????? ]

???????? ????????? ???????????? [ ?????? ]

??? ?? ?? ≪MT-RNR1≫ ??? ?????? ???????? ?? ≪???????? ????????? ???????????≫ ?? ??? ???? ???? ??????? ????????????? ??????. ^[?] ?? ??? ????? ????? ??????? ?? ???? ?????? ??? - ???? ?? ?????? ?? ?? ????? ????? ????? ????. ^[?] ????? ????? ???????????? ????????? ?? ???? ?? ?????? ??? ????? ? ???????? ????? ????? ???. ^[?]^[?] ???? ?????? ?? ?? ??? ??? ?? ??? ?? ???? ???????? ????? ??. ^[?]^[??]^[??]

????? ?????? ? ??????? ????? ????????? [ ?????? ]

??? ?? ?? ≪MT-RNR1≫ ?? ???? ????? ?????? ? ??????? ????? ????????? ????? ??? ?? ?? ?? ≪????? ???????? ??????? ??≫ ?? ????????. ??? ?????? ???? ??????? ??????? ?????? ?? ??? ?? ???? ?????? ?????? ? ??? ? ??? ? ??? ?? ??? ????? ???? ??????. ????? ???? ?? ???? ??????? ? ???????? ? ??????????? ? ?????? ?????? ? ????????????? ?????????? ???. ^[??] ?? ??? ?? ??????? ?????? ??? ≪9952G>A≫ ?????? ??. ^[??]

????? [ ?????? ]

↑ 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. doi : 10.1038/290457a0 . PMID 7219534 .
↑ ^??? ^??? ^??? "UniProt: the universal protein knowledgebase" . Nucleic Acids Research . 45 (D1): D158?D169. January 2017. doi : 10.1093/nar/gkw1099 . PMC 5210571 . PMID 27899622 .
↑ ^??? ^??? ^??? "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.
↑ "MT-RNR1 mitochondrially encoded 12S RNA [Homo sapiens (human)] - Gene - NCBI" . www.ncbi.nlm.nih.gov (?? ???????).
↑ Eperon IC, Anderson S, Nierlich DP (July 1980). "Distinctive sequence of human mitochondrial ribosomal RNA genes". Nature . 286 (5772): 460?467. doi : 10.1038/286460a0 . PMID 6157106 .
↑ 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 .
↑ Usami, Shin-ichi; Nishio, Shin-ya (1993). "Nonsyndromic Hearing Loss and Deafness, Mitochondrial". GeneReviews® . University of Washington, Seattle.
↑ 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 .
↑ Reference, Genetics Home. "Cytochrome c oxidase deficiency" . Genetics Home Reference (?? ???????). 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 .

?????????????? ?????????. ≪ MT-RNR1 ≫. ?? ????????? ?????????? ??????? ? ??????????? ?? ?? ???? ????.

??? ?? ?????? ??? ?????????? ??????? ???. ????????? ?? ????? ?? ?? ????????? ??? ????.

[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. doi : 10.1038/290457a0 . PMID 7219534 .

[uniprot0-2] ??? ^??? ^??? "UniProt: the universal protein knowledgebase" . Nucleic Acids Research . 45 (D1): D158?D169. January 2017. doi : 10.1093/nar/gkw1099 . PMC 5210571 . PMID 27899622 .

[uniprot-3] ??? ^??? ^??? "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.

[entrez-4] "MT-RNR1 mitochondrially encoded 12S RNA [Homo sapiens (human)] - Gene - NCBI" . www.ncbi.nlm.nih.gov (?? ???????).

[5] Eperon IC, Anderson S, Nierlich DP (July 1980). "Distinctive sequence of human mitochondrial ribosomal RNA genes". Nature . 286 (5772): 460?467. doi : 10.1038/286460a0 . PMID 6157106 .

[pmid16458854-6] 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 .

[7] Usami, Shin-ichi; Nishio, Shin-ya (1993). "Nonsyndromic Hearing Loss and Deafness, Mitochondrial". GeneReviews® . University of Washington, Seattle.

[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 .

[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 .

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