MT-TT是位于线粒体DNA上的一个长66碱基对（bp）的非编码基因，编码线粒体苏氨酸转运RNA[1][2]。
突变
MT-TT基因上的15950G>A突变与线粒体肌病、帕金森氏症等疾病相关[3]。此外，MT-TT基因上的15923A>G突变可能与心脏病变相关[4][5]。此外，15915G>A等突变可能造成细胞色素c功能失调造成听觉丧失、肌无力等病变[6]。
参见
参考资料
- ↑ MT-TT mitochondrially encoded tRNA threonine [Homo sapiens (human)] - Gene - NCBI. www.ncbi.nlm.nih.gov （英语）.
- ↑ 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. Sequence and organization of the human mitochondrial genome. Nature. April 1981, 290 (5806): 457–65. PMID 7219534. doi:10.1038/290457a0.
- ↑ Grasbon-Frodl EM, Kösel S, Sprinzl M, von Eitzen U, Mehraein P, Graeber MB. Two novel point mutations of mitochondrial tRNA genes in histologically confirmed Parkinson disease. Neurogenetics. April 1999, 2 (2): 121–7. PMID 10369889. doi:10.1007/s100480050063.
- ↑ Yoon KL, Aprille JR, Ernst SG. Mitochondrial tRNA(thr) mutation in fatal infantile respiratory enzyme deficiency. Biochemical and Biophysical Research Communications. May 1991, 176 (3): 1112–5. PMID 1645537. doi:10.1016/0006-291X(91)90399-R.
- ↑ Reference, Genetics Home. MT-TT gene. Genetics Home Reference （英语）.
- ↑ Nishino I, Seki A, Maegaki Y, Takeshita K, Horai S, Nonaka I, Goto Y. A novel mutation in the mitochondrial tRNA(Thr) gene associated with a mitochondrial encephalomyopathy. Biochemical and Biophysical Research Communications. August 1996, 225 (1): 180–5. PMID 8769114. doi:10.1006/bbrc.1996.1150.
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