Nuclear background determines biochemical phenotype in the deafness-associated mitochondrial 12S rRNA mutation
نویسندگان
چکیده
منابع مشابه
Nuclear background determines biochemical phenotype in the deafness-associated mitochondrial 12S rRNA mutation.
The pathogenetic mechanism of the human mitochondrial 12S rRNA gene mutation at position 1555, associated with non-syndromic deafness and aminoglycoside-induced deafness, has been investigated in 33 transformants obtained by transferring mitochondria from lymphoblastoid cell lines into human mitochondrial DNA (mtDNA)-less (rho *206) cells. In this nearly constant nuclear background, 15 transfor...
متن کاملBiochemical evidence for nuclear gene involvement in phenotype of non-syndromic deafness associated with mitochondrial 12S rRNA mutation.
The phenotypic effects of the human mitochondrial 12S rRNA gene mutation at position 1555 associated with maternally inherited non-syndromic deafness and sensitivity to aminoglycoside-induced deafness have been analyzed in 25 lymphoblastoid cell lines derived from members of a large family carrying this mutation in homoplasmic form and from control individuals. A clear decrease in the rates of ...
متن کاملInteraction of aminoglycosides with human mitochondrial 12S rRNA carrying the deafness-associated mutation.
The mitochondrial 12S rRNA A1555G mutation is one of the important causes of aminoglycoside-induced and nonsyndromic hearing loss. Here we employed an RNA-directed chemical-modification approach to understanding the pathogenesis of aminoglycoside-induced hearing loss. The patterns of chemical modification of RNA oligonucleotides carrying the A1555G mutation by dimethyl sulfate (DMS) were distin...
متن کاملSuppression of a mitochondrial tRNA gene mutation phenotype associated with changes in the nuclear background.
We previously have characterized a pathogenic mtDNA mutation in the tRNAAsn gene. This mutation (G5703A) was associated with a severe mitochondrial protein synthesis defect and a reduction in steady-state levels of tRNAAsn. We now show that, although transmitochondrial cybrids harboring homoplasmic levels of the mutation do not survive in galactose medium, several galactose-resistant clones cou...
متن کاملIdentification of a mitochondrial 12S rRNA A1555G mutation causing aminoglycoside-induced deafness in a large Thai family
Pongsathorn Chaiyasap, Chalurmpon Srichomthong, Siraprapa Tongkobpetch, Kanya Suphapeetiporn, Vorasuk Shotelersuk Interdepartment of Biomedical Sciences, Faculty of Graduate School, Chulalongkorn University, Bangkok 10330, Thailand Center of Excellence for Medical Genetics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok 10330, Thailand Excellence Center for Med...
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ژورنال
عنوان ژورنال: Human Molecular Genetics
سال: 2001
ISSN: 1460-2083
DOI: 10.1093/hmg/10.6.573