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Froh,short correlates poorly with the homozygous mutation load when Ne is small.
Longer ROH segments (>5 Megabases (Mb)) instead of short (> 0.5 Mb) and moderate (> 1.5 Mb) segments have been shown by simulation to have a higher correlation with the homozygous mutation load when the effective populations size is low (i.e. 100 animals) [ 6].
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Whereas MILS occurs when mutation load is greater than 90%, NARP is seen with percentages around 50%60%%.
The analysis of mtDNA mutation load in wild-type animals will be complicated when the animals are derived from a mother heterozygous for the mtDNA mutator allele.
However, sequencing sensitivity is low (around 15-20% mutation load) and this may lead to false negative results when analyzing tumor specimens with insufficient neoplastic cells in a background of normal cells.
When we incorporate age-related increases in mutation load in males into our model, we find that females evolve a preference for younger males.
If uncoupled, a mutation load could result in a reduced number of meiotic recombinants when it is selectively expressed in a sexual background.
PGD for mtDNA mutations can only be offered reliably when certain criteria are fulfilled: a close correlation between the mutation load and disease severity is a first requirement; second, there should be no change in mutation load with time; and third, mutant mtDNA should be uniformly distributed over all blastomeres of the cleavage-stage embryo [ 17].
Yet, when mutation probability increased as a cubic function of male age, gamete mutation load was highest in the oldest age classes, despite the fact that these males were of the highest somatic quality.
Numerous nuclear genes were recently reported in Drosophila melanogaster, which exhibit male-specific patterns of differential expression when placed alongside different mtDNA haplotypes, suggesting that nuclear genes are sensitive to an underlying male-specific mitochondrial mutation load.
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