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Human populations carry several mtDNA haplogroups defined by unique sets of mtDNA polymorphisms, reflecting mutations accumulated by a discrete maternal lineage [5], [6].
Secondly, this fixed heterozygosity leads to a dumping of genetic load by masking detrimental mutations accumulated by the pre-hybridization parental lineages.
A human mtDNA haplogroup is defined by unique sets of mtDNA polymorphisms, reflecting mutations accumulated by a discrete maternal lineage[ 12].
Early theories assumed fitness values monotonically decreasing with the number of mutations accumulated by an individual [ 13], and recognised the effect that epistatic interactions could play.
One puzzling result is the high number of new mutations accumulated by the Nt lineages during the second phase of experimental evolution.
Human populations can be divided into mtDNA haplogroups based on SNPs scattered throughout the mitochondrial genome, reflecting mutations accumulated by the maternal lineage.
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This arises not only from genetic mutations accumulating by the continuous proliferation of tumor cells, but also due to differences in the local microenvironment of individual tumor cells 1.
We tested the ability of self-fertilizing populations to purge deleterious mutations at multiple loci by exposing obligately self-fertilizing populations of Caenorhabditis elegans to a range of elevated mutation rates and found that mutations accumulated, as evidenced by a reduction in mean fitness, in each population.
As loss of BRCA1 function results in genomic instability, we wanted to establish whether the dependence on EZH2 is a direct consequence of Brca1 loss, or whether this is a secondary effect caused by mutations accumulated during the tumorigenic process.
Considering K S or K A as a proxy to evolutionary time since gene duplication, we suggest that the correlation between the HM-code divergence and the coding sequence divergence has been mainly driven by mutations accumulated with evolutionary time.
In this study, we also availed of the complete sequencing of a subgroup of GEHA samples [650 ultra nonagenarians (90+) and a comparable number of controls, coming from Denmark, Finland, southern Italy and Greece], to determine whether recurrent or sporadic mutations accumulated in specific genes not detected by haplogroup analysis, may influence longevity.
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