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The question of whether advantageous mutations have arisen in the human genome as a result of single or multiple mutation events remains unanswered except for the fact that there exist a handful of genes such as those that confer lactase persistence, affect skin pigmentation, or cause sickle cell anemia.
This is even less probable when the private alleles/haplotypes diverge by more than one mutation from other alleles/haplotypes, since this would involve multiple mutation events.
In order to determine whether resistance alleles result from single or multiple mutation events, genotyping of the kdr locus and partial sequencing of the upstream intron-1 was performed on a total of 288 A. gambiae S-form collected from 28 localities in 15 countries.
Interestingly however, all but one of the perfect repeats with more than 30 repeat units recovered multiple mutation events that resulted in a quite stable mutation rate of 2.5−7.5 × 10−4 (Table 2).
Several SNPs located in 5% MCS regions were eliminated from the study due to the nature of the variation precluding genotyping on the Illumina platform (e.g. insertion/deletions or multiple mutation events leading to > 2 alleles) and/or the failure to generate an Illumina score > 0.60.
Similar(55)
This presents an opportunity to systematically interrogate the whole human genome whether a selection signal shared across different populations is the consequence of a single mutation process followed subsequently by gene flow between populations or of convergent evolution due to the occurrence of multiple independent mutation events either at the same variant or within the same gene.
The accumulation of so many contributory mutations is hard to explain solely by the frequency of multiple independent mutation events.
Whether these mutations have arisen only once and are spreading throughout the species distribution or if multiple independent mutation events have occurred, remains to be understood.
As compared to the 27 accessible pathways allowing only single beneficial forward and back mutations, there are 232 accessible pathways allowing one double mutation along a given pathway, and 4800 accessible pathways allowing multiple double mutation events in a pathway.
Conserved long range haplotypes indicate that these deletions occurred once and have been inherited together with the surrounding genomic region, as opposed to arising via multiple independent mutation events.
In addition, the conserved long range haplotypes indicate that these deletions occurred once and have been inherited together with the surrounding genomic region, as opposed to arising via multiple independent mutation events.
Related(20)
numerous mutation events
many mutation events
various mutation events
multiple mutation tests
multiple transfer events
several mutation events
multiple mutation datasets
multiple mutation strategies
multiple mutation combinations
multiple mutation alleles
multiple mutation rates
multiple mutation hotspots
multiple mutation hits
multiple mutation cases
multiple mutation controls
multiple mutation sites
multiple mutation steps
multiple mutation clusters
multiple mutation studies
multiple mutation types
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