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The strand-biased mutation spectrum has profound consequences on codon usage in mitochondrial protein-coding sequences (CDSs) and the anticodon of tRNA genes [17].
For many ethnic or geographic populations, the mutation spectrum has been determined [ 6– 15].
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These secondary mutation spectra have, however, been poorly characterized, mainly because studies often focused at one or a few reporter loci, or exclusively on mutations at known hotspot sequences.
The mtDNA mutation rate and spectrum have been determined by performing mutation-accumulation experiments on a wide range of model organisms, including Caenorhabidtis elegans (Denver et al. 2000), Caenorhabidtis briggsae (Howe et al. 2010), Pristionchus pacificus (Molnar et al. 2011), Drosophila melanogaster (Haag-Liautard et al. 2008), and Saccharomyces cerevisiae (Lynch et al. 2008).
The BaP mutation spectrum in bone marrow had significant differences from the control spectrum (Fig. 3).
It should be noted that the mtDNA mutation spectrum in the present study has predominance of transversions compared with other types of cancers (MITOMAP (http://www.mitomap.org/)).
Traditionally, analyses of mutation spectra and rates have been based on a small portion of phenotypically and molecularly detectable loci.
The recent sequencing of a melanoma genome has revealed a mutation spectrum reflective of the mutagenic impact of ultraviolet light [23].
Thus, the hypermutated X chromosome has the same mutation spectrum as the autosomes.
In Africa the prevalence of CF is low and the mutation spectrum for CF in African populations has been shown to be different than that in European populations (Carles et al. 1996; Goldman et al. 2001; Padoa et al. 1999).
FBXW7 is classed as a tumour suppressor, but has an unusual mutation spectrum whereby biallelic, simple loss-of-function mutations are rare; instead, most mutations are monoallelic missense changes involving specific arginine residues at β-sheet propellor tips that allow the FBXW7 protein to recognise its substrates.
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