383) To test this association, we characterized the C628T variant using a phylogenetic approach; in addition, we employed the bioinformatics tool to predict the thermodynamic change of the mt-tRNA(Phe) gene with and without this variant. |
PMID:24021014 DOI:10.3109/19401736.2013.823192 |
2015 Mitochondrial DNA |
* The role of mitochondrial tRNAPhe C628T variant in deafness expression. |
- Mutations in mitochondrial genome are one of the most important causes of hearing loss, of these, mitochondrial tRNA (mt-tRNA) genes are the hot spots for mutations associated with deafness. Most recently, a novel mt-tRNA(Phe) C628T variant has been reported to be associated with non-syndromic and sensorineural hearing loss. To test this association, we characterized the C628T variant using a phylogenetic approach; in addition, we employed the bioinformatics tool to predict the thermodynamic change of the mt-tRNA(Phe) gene with and without this variant. Intriguingly, the C628T variant was not evolutionary conserved and had little effect on mt-tRNA(Phe) folding. Moreover, through the application of the pathogenicity scoring system, we classified the C628T variant as a "neutral polymorphism", suggesting that this variant currently lacked sufficient evident to support as a "pathogenic" mutation. |
(1)75 expression | (15)5 of | (29)3 block | (43)2 mutation |
(2)34 order | (16)5 transfer | (30)3 can | (44)2 on |
(3)32 arrangement | (17)5 were | (31)3 contents | (45)2 overlap |
(4)31 and | (18)4 activation | (32)3 polymorphisms | (46)2 peptide |
(5)21 *null* | (19)4 delivery | (33)3 sequencing | (47)2 profiling |
(6)15 was | (20)4 encoding | (34)3 transcription | (48)2 regions |
(7)12 expression, | (21)4 expressions | (35)2 analysis | (49)2 sequence |
(8)9 arrangement, | (22)4 fragments | (36)2 carriers | (50)2 sequences, |
(9)7 composition | (23)4 is | (37)2 cluster | (51)2 spookier |
(10)7 organization | (24)4 silencing | (38)2 clusters | (52)2 synteny |
(11)7 sequences | (25)4 to | (39)2 content | (53)2 therapy, |
(12)5 flow | (26)4 which | (40)2 family | (54)2 used |
(13)5 for | (27)3 alterations | (41)2 from | (55)2 uses |
(14)5 in | (28)3 as | (42)2 has |
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