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By analogy to the extensive literature on mutators (and antimutators) in bacteria and yeast, mutations affecting a broad range of processes that impinge on the mutation rate could be responsible for the extensive variation in mitochondrial mutation rates in Geraniaceae.
Genetic mutations affecting a single gene play an outsized role in Parkinson's disease.
Genetic mutations affecting a single gene called LRRK2 play an outsized role in Parkinson's disease, but nobody's been able to say what the connection is between the genetic defect and the brain-cell die-off that characterizes the condition.
We have determined the positions and sequences of 31 dominant mutations affecting a C. elegans muscle myosin heavy chain gene.
Conceptually, an accumulation of mutations affecting a number of genes affecting disease specific pathways may establish a genetic liability gradient for schizophrenia where a critical threshold is required for the manifestation of the disease state [54].
To further study this phenomenon, different cells carrying mutations affecting A or S motility were placed on polystyrene surfaces in 1% methylcellulose-containing medium.
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Hence, the typical mutations affecting an OG are missense mutations on key amino acids or on specific domains.
Reporting in Nature, Dr. Tsui and collaborators at the Johns Hopkins School of Medicine in Baltimore said that many of the mutations affected a particular region of the gene.
One of these mutations affects a protein called TNNT2, which is located on the muscle fibers of the heart and helps to regulate their contraction.
The mutations affect a triplet of conserved residues that are situated neither in canonical nucleotide binding and hydrolysis motifs in the ParF tertiary structure nor at interfaces implicated in ParF polymerization.
Thus, it is possible that these mutations affect a common active site.
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