scholarly journals 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

2004 ◽  
Vol 74 (1) ◽  
pp. 139-152 ◽  
Author(s):  
Hui Zhao ◽  
Ronghua Li ◽  
Qiuju Wang ◽  
Qingfeng Yan ◽  
Jian-Hong Deng ◽  
...  
Keyword(s):  
Chinese Family ◽  
12S Rrna ◽  
Rrna Gene ◽  
The Novel ◽  
Nonsyndromic Deafness ◽  
12S Rrna Gene ◽  
Mitochondrial 12S Rrna

Phylogenetic Relationships among the Species of the Genus Testudo (Testudines: Testudinidae) Inferred from Mitochondrial 12S rRNA Gene Sequences

2002 ◽  
Vol 22 (2) ◽  
pp. 174-183 ◽  
Author(s):  
Antoinette C. van der Kuyl ◽  
Donato L. Ph. Ballasina ◽  
John T. Dekker ◽  
Jolanda Maas ◽  
Ronald E. Willemsen ◽  
...  
Keyword(s):  
Phylogenetic Relationships ◽  
12S Rrna ◽  
Rrna Gene ◽  
Gene Sequences ◽  
12S Rrna Gene ◽  
Mitochondrial 12S Rrna

scholarly journals Reassessment of the mitochondrial 12S-rRNA gene for DNA barcoding of museum specimens of shelled marine gastropods from Japan

2021 ◽  
Vol 322 ◽  
pp. 01028
Author(s):  
Nao Fukunaga ◽  
Moe Shimizu ◽  
Shinnosuke Teruya ◽  
Nazifa Naziha Razali ◽  
Satoko Nakashima ◽  
...  
Keyword(s):  
Dna Barcoding ◽  
12S Rrna ◽  
Rrna Gene ◽  
Museum Specimens ◽  
Biodiversity Monitoring ◽  
Marine Gastropods ◽  
12S Rrna Gene ◽  
Reference Databases ◽  
Mitochondrial 12S Rrna ◽  
Comprehensive Reference

DNA barcoding is an effective and powerful tool for taxonomic identification and thus very useful for biodiversity monitoring. This study investigated the usefulness of the mitochondrial 12S-rRNA gene for the DNA barcoding of shelled marine gastropods. To do so, we determined partial 12S-rRNA sequences of 75 vouchered museum specimens from 69 species of shelled gastropods from Japan. The specimens have been identified morphologically, and natural history data catalog. Sequence analyses through BLAST searches, maximum likelihood phylogenetic analysis, and species delimitation analysis suggested that the 12S-rRNA gene is helpful for barcoding shelled marine gastropods. They thus could be helpful to complement barcoding studies using other markers such as COI. The analyses successfully confirmed all samples’ identity at higher taxonomy (subfamily and above), but much less so at the species level. Our result thus also underlines the lingering problem of DNA barcoding: The lack of comprehensive reference databases of sequences. However, since we provided sequences of properly curated, vouchered museum specimens in this study, our result reported here has thus also helped to give taxonomically reliable reference sequences for biodiversity monitoring and identifications of shelled gastropods which include many important fisheries species.

Whole mitochondrial genome screening in two families with hearing loss: detection of a novel mutation in the 12S rRNA gene

2010 ◽  
Vol 30 (6) ◽  
pp. 405-411 ◽  
Author(s):  
Emna Mkaouar-Rebai ◽  
Nourhene Fendri-Kriaa ◽  
Nacim Louhichi ◽  
Abdelaziz Tlili ◽  
Chahnez Triki ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Mitochondrial Genome ◽  
Novel Mutation ◽  
Hot Spot ◽  
12S Rrna ◽  
Rrna Gene ◽  
12S Rrna Gene ◽  
Genome Screening ◽  
Mitochondrial 12S Rrna ◽  
Syndromic Hearing Loss

Sensorineural hearing loss has been described in association with different mitochondrial multisystemic syndromes, often characterized by an important neuromuscular involvement. Until now, mutations in mitochondrial DNA, especially in the 12S rRNA, the tRNASer(UCN) and the tRNALeu(UUR) genes, were implicated in syndromic or non-syndromic hearing loss either as a primary cause or as predisposing factors. In the present study, we performed a whole mitochondrial genome screening in two unrelated Tunisian families with inherited hearing loss. Results showed the presence of a novel mutation in the mitochondrial 12S rRNA gene in the two probands of these two families who belong to two different haplogroups: L3 and H6a1. The m.735A>G mutation affects a conserved nucleotide of the mitochondrial 12S rRNA gene in primates and other species and had a conservation index of 78.5% (11/14). We also detected known polymorphisms and sic novel mitochondrial variants. The present study confirmed that the mitochondrial 12S rRNA gene is a hot spot for mutations associated with hearing impairment.

Analysis of mitochondrial 12S rRNA gene sequence variation in four ethnically defined populations

2003 ◽  
Vol 1239 ◽  
pp. 75-78
Author(s):  
C Albarrán ◽  
P Martı́n ◽  
O Garcı́a ◽  
P Garcı́a ◽  
L Fernández de Simón ◽  
...  
Keyword(s):  
Sequence Variation ◽  
Gene Sequence ◽  
12S Rrna ◽  
Rrna Gene ◽  
Rrna Gene Sequence ◽  
12S Rrna Gene ◽  
Mitochondrial 12S Rrna

scholarly journals Phylogenetic relationships of snails of the genera Oncomelania and Tricula inferred from the mitochondrial 12S rRNA gene

2003 ◽  
Vol 31 (1) ◽  
pp. 5-10 ◽  
Author(s):  
MUNEHIRO OKAMOTO ◽  
CHIN-TSON LO ◽  
WILFRED U. TIU ◽  
DONGCHUAN QUI ◽  
PINARDI HADIDJAJA ◽  
...  
Keyword(s):  
Phylogenetic Relationships ◽  
12S Rrna ◽  
Rrna Gene ◽  
12S Rrna Gene ◽  
Mitochondrial 12S Rrna
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