MT-TV

MT-TV
識別號
別名	MT-TV；, TRNV
外部ID	OMIM：590105 MGI：102472 GeneCards：MT-TV
直系同源
	4577
	17745
	ENSG00000210077
	ENSMUSG00000064338
	無數據
	無數據
	無數據
	無數據
	無數據
	無數據
	維基數據
檢視/編輯人類	檢視/編輯小鼠

MT-TV是位於線粒體DNA上的一個長69鹼基對（bp）的非編碼基因^[3]，編碼線粒體纈氨酸轉運RNA（tRNA）MT-tRNA^Val^[4]。

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結構

MT-TV基因長69鹼基對，編碼長69核苷酸殘基的線粒體纈氨酸轉運RNA（tRNA），能在線粒體轉譯過程中將游離的纈氨酸運輸至轉錄中的線粒體核糖體上。線粒體纈氨酸轉運RNA與一般的轉運RNA相同，呈現有三個臂的三葉草結構^[5]。

MT-TV編碼的MT-tRNA^Val能整合到線粒體核糖體大亞基的中央突起（central protuberance）區域，成為核糖體結構的一部份，起到類似細胞質核糖體中5S 核糖體RNA（不存在於線粒體核糖體中）的功能、為線粒體核糖體正常運作所需^[6]。此現象可能與MT-TV基因的位點位於兩個編碼線粒體rRNA的基因MT-RNR1以及MT-RNR2之間有關，因為在細菌中，5S rDNA也臨近其他rDNA^[7]。除MT-tRNA^Val外，MT-TP（英語：MT-TP）編碼的MT-tRNA^Phe也能起到相似作用。且在MT-TV編碼的tRNA數量不足的情況下，MT-tRNA^Phe會代償性增加，補償不足的MT-tRNA^Val^[8]。

臨床醫學

人MT-TV基因的1642G>A、1644G>A等突變會造成線粒體氧化還原功能的缺陷，導致MELAS綜合症等線粒體肌病^[9]。人MT-TV基因的1624C>T突變也可能導致影響中樞神經、腎臟、心臟等多個器官的Leigh綜合症（英語：Leigh syndrome）^[10]；人MT-TV基因的1606A>G突變則會造成聽覺喪失、進行性癲癇發作，以及精神性疾病^[11]。

目前MT-TV突變的致病機理尚不十分明確^[9]。

參見

參考資料

[1]
Human PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine.
[2]
Mouse PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine.
[3]
MT-TV mitochondrially encoded tRNA valine [Homo sapiens (human)] - Gene - NCBI. www.ncbi.nlm.nih.gov. [2021-07-25]. （原始內容存檔於2018-09-06）（英語）.
[4]
Anderson S, Bankier AT, Barrell BG, de Bruijn MH, Coulson AR, Drouin J, et al. Sequence and organization of the human mitochondrial genome. Nature. April 1981, 290 (5806): 457–65. Bibcode:1981Natur.290..457A. PMID 7219534. S2CID 4355527. doi:10.1038/290457a0.
[5]
tRNA / transfer RNA. Learn Science at Scitable. [2021-07-25]. （原始內容存檔於2020-06-01）.
[6]
Brown A, Amunts A, Bai XC, Sugimoto Y, Edwards PC, Murshudov G, et al. Structure of the large ribosomal subunit from human mitochondria. Science. November 2014, 346 (6210): 718–722. Bibcode:2014Sci...346..718B. PMC 4246062 . PMID 25278503. doi:10.1126/science.1258026.
[7]
Brown, A.; Amunts, A.; Bai, X.-c.; Sugimoto, Y.; Edwards, P. C.; Murshudov, G.; Scheres, S. H. W.; Ramakrishnan, V. Structure of the large ribosomal subunit from human mitochondria. Science. 2014, 346 (6210): 718–722. ISSN 0036-8075. doi:10.1126/science.1258026.
[8]
Rorbach, Joanna; Gao, Fei; Powell, Christopher A.; D』Souza, Aaron; Lightowlers, Robert N.; Minczuk, Michal; Chrzanowska-Lightowlers, Zofia M. Human mitochondrial ribosomes can switch their structural RNA composition. Proceedings of the National Academy of Sciences. 2016, 113 (43): 12198–12201. ISSN 0027-8424. doi:10.1073/pnas.1609338113.
[9]
MT-TV gene. Genetics Home Reference. [2021-07-25]. （原始內容存檔於2020-09-28）（英語）. 本文含有此來源中屬於公有領域的內容。
[10]
McFarland R, Clark KM, Morris AA, Taylor RW, Macphail S, Lightowlers RN, Turnbull DM. Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation. Nature Genetics. February 2002, 30 (2): 145–6. PMID 11799391. S2CID 10940372. doi:10.1038/ng819.
[11]
Tiranti V, D'Agruma L, Pareyson D, Mora M, Carrara F, Zelante L, et al. A novel mutation in the mitochondrial tRNA(Val) gene associated with a complex neurological presentation. Annals of Neurology. January 1998, 43 (1): 98–101. PMID 9450773. S2CID 25775432. doi:10.1002/ana.410430116.

[1] [1]
Human PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine.

[2] [2]
Mouse PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-3] [3]
MT-TV mitochondrially encoded tRNA valine [Homo sapiens (human)] - Gene - NCBI. www.ncbi.nlm.nih.gov. [2021-07-25]. （原始內容存檔於2018-09-06）（英語）.

[pmid7219534-4] [4]
Anderson S, Bankier AT, Barrell BG, de Bruijn MH, Coulson AR, Drouin J, et al. Sequence and organization of the human mitochondrial genome. Nature. April 1981, 290 (5806): 457–65. Bibcode:1981Natur.290..457A. PMID 7219534. S2CID 4355527. doi:10.1038/290457a0.

[5] [5]
tRNA / transfer RNA. Learn Science at Scitable. [2021-07-25]. （原始內容存檔於2020-06-01）.

[6] [6]
Brown A, Amunts A, Bai XC, Sugimoto Y, Edwards PC, Murshudov G, et al. Structure of the large ribosomal subunit from human mitochondria. Science. November 2014, 346 (6210): 718–722. Bibcode:2014Sci...346..718B. PMC 4246062 . PMID 25278503. doi:10.1126/science.1258026.

[BrownAmunts2014-7] [7]
Brown, A.; Amunts, A.; Bai, X.-c.; Sugimoto, Y.; Edwards, P. C.; Murshudov, G.; Scheres, S. H. W.; Ramakrishnan, V. Structure of the large ribosomal subunit from human mitochondria. Science. 2014, 346 (6210): 718–722. ISSN 0036-8075. doi:10.1126/science.1258026.

[RorbachGao2016-8] [8]
Rorbach, Joanna; Gao, Fei; Powell, Christopher A.; D』Souza, Aaron; Lightowlers, Robert N.; Minczuk, Michal; Chrzanowska-Lightowlers, Zofia M. Human mitochondrial ribosomes can switch their structural RNA composition. Proceedings of the National Academy of Sciences. 2016, 113 (43): 12198–12201. ISSN 0027-8424. doi:10.1073/pnas.1609338113.

[GHR-9] [9]
MT-TV gene. Genetics Home Reference. [2021-07-25]. （原始內容存檔於2020-09-28）（英語）. 本文含有此來源中屬於公有領域的內容。

[10] [10]
McFarland R, Clark KM, Morris AA, Taylor RW, Macphail S, Lightowlers RN, Turnbull DM. Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation. Nature Genetics. February 2002, 30 (2): 145–6. PMID 11799391. S2CID 10940372. doi:10.1038/ng819.

[11] [11]
Tiranti V, D'Agruma L, Pareyson D, Mora M, Carrara F, Zelante L, et al. A novel mutation in the mitochondrial tRNA(Val) gene associated with a complex neurological presentation. Annals of Neurology. January 1998, 43 (1): 98–101. PMID 9450773. S2CID 25775432. doi:10.1002/ana.410430116.

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