Article
The deafness-associated mitochondrial DNA mutation at position 7445, which affects tRNASer(UCN) precursor processing, has long-range effects on NADH dehydrogenase subunit ND6 gene expression.
Molecular and cellular biology - 1 Oct 1998
Guan M X, Enriquez J A, Fischel-Ghodsian N, Puranam R S, Lin C P, Maw M A, Attardi G
Abstract excerpt
The pathogenetic mechanism of the deafness-associated mitochondrial DNA (mtDNA) T7445C mutation has been investigated in several lymphoblastoid cell lines from members of a New Zealand pedigree exhibiting the mutation in homoplasmic form and from control individuals. We show here that the mutatio...
Topics
- Base Sequence
- Binding Sites
- Cell Division
- Cell Respiration
- Culture Media
- DNA, Mitochondrial
- Deafness
- Galactose
- Gene Expression Regulation, Enzymologic
- Glucose
- Humans
- Molecular Sequence Data
- Mutation
- NADH Dehydrogenase